#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
DNAJC11	55735	broad.mit.edu	37	1	6705885	6705885	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:6705885T>C	ENST00000377577.5	-	8	981	c.858A>G	c.(856-858)cgA>cgG	p.R286R	DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000294401.7_Silent_p.R286R|DNAJC11_ENST00000542246.1_Silent_p.R248R|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.R196R	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	286						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTAGTGTCTCGGACGATGC	0.587																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(856-858)cgA>cgG		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							139.0	132.0	135.0					1																	6705885		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6705885T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.858A>G	1.37:g.6705885T>C						DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	p.R286R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	7	964	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	286					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.858A>G	CCDS87.1																																																																																				0.587	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
NPPA	4878	broad.mit.edu	37	1	11907662	11907662	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907662G>C	ENST00000376480.3	-	1	178	c.80C>G	c.(79-81)cCc>cGc	p.P27R	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	27					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567																																						uc001ati.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(79-81)cCc>cGc		Homo sapiens natriuretic peptide A (NPPA), mRNA.							219.0	195.0	203.0					1																	11907662		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907662G>C	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.80C>G	1.37:g.11907662G>C	ENSP00000365663:p.Pro27Arg					CLCN6_uc010oba.1_Non-coding_Transcript|CLCN6_uc010oav.1_Non-coding_Transcript|CLCN6_uc010oay.1_Non-coding_Transcript|CLCN6_uc010oax.1_Non-coding_Transcript|CLCN6_uc010oaw.1_Non-coding_Transcript|CLCN6_uc010oaz.1_Non-coding_Transcript	p.P27R	NM_006172	NP_006163	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	0	179	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	27					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.80C>G	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964545	0.34659	.	.	ENSG00000175206	ENST00000376480	T	0.52983	0.64	5.57	5.57	0.84162	.	0.210963	0.42294	D	0.000731	T	0.72700	0.3493	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77498	-0.2565	10	0.87932	D	0	-21.9591	15.0556	0.71910	0.0:0.0:1.0:0.0	.	27	P01160	ANF_HUMAN	R	27	ENSP00000365663:P27R	ENSP00000365663:P27R	P	-	2	0	NPPA	11830249	1.000000	0.71417	0.297000	0.24988	0.061000	0.15899	4.961000	0.63681	2.619000	0.88677	0.491000	0.48974	CCC		0.567	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172	
NPPA	4878	broad.mit.edu	37	1	11907712	11907712	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907712G>C	ENST00000376480.3	-	1	128	c.30C>G	c.(28-30)agC>agG	p.S10R	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	10					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.557																																						uc001ati.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(28-30)agC>agG		Homo sapiens natriuretic peptide A (NPPA), mRNA.							220.0	183.0	195.0					1																	11907712		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907712G>C	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.30C>G	1.37:g.11907712G>C	ENSP00000365663:p.Ser10Arg						p.S10R	NM_006172	NP_006163	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	0	129	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	10					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.30C>G	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667832	0.14710	.	.	ENSG00000175206	ENST00000376480	T	0.50813	0.73	5.57	3.71	0.42584	.	0.438058	0.25762	N	0.028461	T	0.48040	0.1478	M	0.76838	2.35	0.80722	D	1	P	0.37864	0.61	B	0.40534	0.332	T	0.35847	-0.9772	10	0.25106	T	0.35	-2.9477	8.2422	0.31667	0.1806:0.0:0.8194:0.0	.	10	P01160	ANF_HUMAN	R	10	ENSP00000365663:S10R	ENSP00000365663:S10R	S	-	3	2	NPPA	11830299	0.764000	0.28473	0.477000	0.27303	0.079000	0.17450	2.309000	0.43699	0.724000	0.32296	0.491000	0.48974	AGC		0.557	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172	
AZIN2	113451	broad.mit.edu	37	1	33583641	33583641	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:33583641T>A	ENST00000294517.6	+	11	1755	c.1168T>A	c.(1168-1170)Tac>Aac	p.Y390N	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.Y410N|ADC_ENST00000373441.1_Missense_Mutation_p.Y410N|ADC_ENST00000373443.3_Missense_Mutation_p.Y390N	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		390					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CATGGGCGCCTACACTGTGGG	0.632																																						uc009vug.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1228-1230)Tac>Aac		Homo sapiens arginine decarboxylase (ADC), mRNA.	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						60.0	67.0	64.0					1																	33583641		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583641T>A																												ENST00000294517.6:c.1168T>A	1.37:g.33583641T>A	ENSP00000294517:p.Tyr390Asn					ADC_uc001bwr.3_Missense_Mutation_p.Y390N|ADC_uc001bws.3_Missense_Mutation_p.Y390N|ADC_uc009vue.3_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.3_Missense_Mutation_p.Y295N|ADC_uc001bwv.3_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N	p.Y410N	NM_052998	NP_443724	Q96A70	ADC_HUMAN			7	1300	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	390					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1228T>A	CCDS375.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016364	0.54468	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.92	4.92	0.64577	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.56097	D	0.000033	D	0.90549	0.7038	M	0.93898	3.47	0.80722	D	1	P;D;D	0.67145	0.928;0.996;0.996	P;P;P	0.60236	0.463;0.871;0.871	D	0.92266	0.5821	10	0.51188	T	0.08	-17.3996	13.8529	0.63508	0.0:0.0:0.0:1.0	.	410;295;390	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	N	390;390;410;410	ENSP00000294517:Y390N;ENSP00000362542:Y390N;ENSP00000381233:Y410N;ENSP00000362540:Y410N	ENSP00000294517:Y390N	Y	+	1	0	ADC	33356228	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.880000	0.69698	1.971000	0.57363	0.491000	0.48974	TAC		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1		
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc021oul.1																			4	Substitution - coding silent(4)	p.K3445K(8)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.K3445K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
FLG	2312	broad.mit.edu	37	1	152285965	152285965	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:152285965C>A	ENST00000368799.1	-	3	1432	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	466	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)			GAGGGAAGACCCTGAACGTCC	0.607									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.(1396-1398)gGg>gTg		Homo sapiens filaggrin (FLG), mRNA.							220.0	209.0	212.0					1																	152285965		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.chr1:152285965C>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.1397G>T	1.37:g.152285965C>A	ENSP00000357789:p.Gly466Val					AK056431_uc001ezv.3_Non-coding_Transcript	p.G466V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1433	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		466			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1397G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.382	1.073339	0.20147	.	.	ENSG00000143631	ENST00000368799	T	0.02345	4.33	3.29	-0.631	0.11526	.	.	.	.	.	T	0.03178	0.0093	M	0.65320	2	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.35822	-0.9773	9	0.37606	T	0.19	.	3.2475	0.06802	0.0:0.4439:0.2129:0.3432	.	466	P20930	FILA_HUMAN	V	466	ENSP00000357789:G466V	ENSP00000357789:G466V	G	-	2	0	FLG	150552589	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.565000	0.05929	-0.232000	0.09811	0.505000	0.49811	GGG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
AQP10	89872	broad.mit.edu	37	1	154293715	154293715	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:154293715T>C	ENST00000324978.3	+	1	124	c.84T>C	c.(82-84)ttT>ttC	p.F28F	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Silent_p.F28F	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	28					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAGAGTTTCTGGGTGTGT	0.552																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(82-84)ttT>ttC		Homo sapiens aquaporin 10 (AQP10), mRNA.							48.0	47.0	47.0					1																	154293715		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154293715T>C	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.84T>C	1.37:g.154293715T>C							p.F28F	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		0	124	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		28					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.84T>C	CCDS1065.1																																																																																				0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
EFNA3	1944	broad.mit.edu	37	1	155058900	155058900	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:155058900G>A	ENST00000368408.3	+	5	668	c.598G>A	c.(598-600)Gga>Aga	p.G200R	EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.G195R|EFNA3_ENST00000556931.1_Missense_Mutation_p.G195R|EFNA3_ENST00000418360.2_Missense_Mutation_p.G174R	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	200					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fhf.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(598-600)Gga>Aga		Homo sapiens ephrin-A3 (EFNA3), mRNA.							81.0	77.0	78.0					1																	155058900		2203	4300	6503	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058900G>A	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.598G>A	1.37:g.155058900G>A	ENSP00000357393:p.Gly200Arg		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_uc010pew.2_Missense_Mutation_p.G195R|EFNA3_uc010pex.2_Missense_Mutation_p.G174R	p.G200R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	668	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		200					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.598G>A	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230376	0.39399	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.95756	-3.32;-3.29;-3.8;-3.32	4.34	4.34	0.51931	.	0.683869	0.13324	N	0.396462	D	0.92315	0.7562	N	0.08118	0	0.41115	D	0.985777	D;D;D	0.69078	0.991;0.997;0.981	P;D;P	0.63597	0.831;0.916;0.81	D	0.92243	0.5802	10	0.42905	T	0.14	-15.5201	14.7077	0.69203	0.0:0.0:1.0:0.0	.	174;195;200	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	R	195;200;174;195	ENSP00000450814:G195R;ENSP00000357393:G200R;ENSP00000391370:G174R;ENSP00000426741:G195R	ENSP00000357393:G200R	G	+	1	0	RP11-540D14.8;EFNA3	153325524	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	2.632000	0.46511	2.396000	0.81511	0.462000	0.41574	GGA		0.632	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952	
AIM2	9447	broad.mit.edu	37	1	159043117	159043117	+	Missense_Mutation	SNP	G	G	A	rs149324922		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:159043117G>A	ENST00000368130.4	-	2	461	c.173C>T	c.(172-174)gCg>gTg	p.A58V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	58	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393																																						uc001ftj.1																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(172-174)gCg>gTg		Homo sapiens absent in melanoma 2 (AIM2), mRNA.		G	VAL/ALA	0,4406		0,0,2203	88.0	89.0	89.0		173	-7.3	0.0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	AIM2	NM_004833.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	58/344	159043117	1,13005	2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043117G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.173C>T	1.37:g.159043117G>A	ENSP00000357112:p.Ala58Val						p.A58V	NM_004833	NP_004824	O14862	AIM2_HUMAN			1	418	-	all_hematologic(112;0.0429)		58			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.173C>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797207	0.16327	0.0	1.16E-4	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.45276	0.9;0.9	3.67	-7.33	0.01431	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.07548	0.0190	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18618	-1.0331	9	0.56958	D	0.05	-0.0116	4.5128	0.11919	0.2332:0.178:0.488:0.1008	.	58	O14862	AIM2_HUMAN	V	58	ENSP00000357112:A58V;ENSP00000405197:A58V	ENSP00000357112:A58V	A	-	2	0	AIM2	157309741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.278000	0.02809	-2.749000	0.00375	-0.648000	0.03929	GCG		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	
SHCBP1L	81626	broad.mit.edu	37	1	182908331	182908331	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:182908331C>G	ENST00000367547.3	-	5	1292	c.1056G>C	c.(1054-1056)atG>atC	p.M352I	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.M233I	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	424										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATCTTCCCACATTTTCAGTA	0.338																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1054-1056)atG>atC		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							75.0	73.0	74.0					1																	182908331		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182908331C>G	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1056G>C	1.37:g.182908331C>G	ENSP00000356518:p.Met352Ile					SHCBP1L_uc001gpv.3_Missense_Mutation_p.M233I|SHCBP1L_uc010pnz.2_Missense_Mutation_p.M210I|SHCBP1L_uc001gpw.3_Missense_Mutation_p.M72I	p.M352I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			4	1341	-			424					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1056G>C	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522196	0.27211	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.40756	1.02;1.02	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000007	T	0.27967	0.0689	L	0.27053	0.805	0.39008	D	0.959487	B;B;B	0.15473	0.013;0.0;0.008	B;B;B	0.15484	0.006;0.001;0.013	T	0.12863	-1.0531	10	0.22706	T	0.39	-9.4868	9.7158	0.40274	0.0:0.905:0.0:0.095	.	424;233;352	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	I	352;421;233	ENSP00000356518:M352I;ENSP00000397308:M233I	ENSP00000287709:M421I	M	-	3	0	SHCBP1L	181174954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.840000	0.27600	2.381000	0.81170	0.563000	0.77884	ATG		0.338	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A	rs201906412		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:223285929G>A	ENST00000540964.1	-	4	906	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	TLR5_ENST00000342210.6_Missense_Mutation_p.R149C			O60602	TLR5_HUMAN	toll-like receptor 5	149					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368																																						uc021pjl.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(445-447)Cgc>Tgc		Homo sapiens toll-like receptor 5 (TLR5), mRNA.							74.0	74.0	74.0					1																	223285929		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285929G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.445C>T	1.37:g.223285929G>A	ENSP00000440643:p.Arg149Cys					TLR5_uc001hnv.2_Missense_Mutation_p.R149C|TLR5_uc001hnw.2_Missense_Mutation_p.R149C	p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	0	445	-			149					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.445C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970939	0.53614	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57752	0.38;0.38;0.38	5.03	4.06	0.47325	.	1.095890	0.06776	N	0.784336	T	0.62853	0.2462	M	0.72479	2.2	0.09310	N	1	D	0.58970	0.984	P	0.56514	0.8	T	0.54879	-0.8227	10	0.54805	T	0.06	.	2.9129	0.05743	0.1585:0.1594:0.5381:0.1439	.	149	O60602	TLR5_HUMAN	C	149	ENSP00000440643:R149C;ENSP00000355846:R149C;ENSP00000340089:R149C	ENSP00000340089:R149C	R	-	1	0	TLR5	221352552	0.000000	0.05858	0.954000	0.39281	0.930000	0.56654	-0.007000	0.12810	2.483000	0.83821	0.655000	0.94253	CGC		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
CUBN	8029	broad.mit.edu	37	10	16873370	16873370	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:16873370C>T	ENST00000377833.4	-	65	10474	c.10409G>A	c.(10408-10410)tGt>tAt	p.C3470Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3470	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGTTCCACAGTACTTGCC	0.368																																						uc001ioo.3																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10408-10410)tGt>tAt		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136.0	125.0	129.0					10																	16873370		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873370C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10409G>A	10.37:g.16873370C>T	ENSP00000367064:p.Cys3470Tyr						p.C3470Y	NM_001081	NP_001072	O60494	CUBN_HUMAN			64	10461	-			3470			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10409G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158366	0.78114	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.49432	0.78	4.6	4.6	0.57074	CUB (5);	0.147770	0.31747	N	0.007130	T	0.76364	0.3977	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83565	0.0109	10	0.87932	D	0	.	17.5839	0.87976	0.0:1.0:0.0:0.0	.	3470	O60494	CUBN_HUMAN	Y	3470;311	ENSP00000367064:C3470Y	ENSP00000367064:C3470Y	C	-	2	0	CUBN	16913376	1.000000	0.71417	0.938000	0.37757	0.966000	0.64601	7.034000	0.76511	2.378000	0.81104	0.561000	0.74099	TGT		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
ARMC3	219681	broad.mit.edu	37	10	23287264	23287264	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:23287264G>A	ENST00000298032.5	+	11	1447	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ARMC3_ENST00000409049.3_Missense_Mutation_p.V455M|ARMC3_ENST00000376528.4_Missense_Mutation_p.V192M|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.V455M	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	455						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACACAGTCGTGCAGAGCAA	0.498																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1363-1365)Gtg>Atg		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							62.0	56.0	59.0					10																	23287264		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287264G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1363G>A	10.37:g.23287264G>A	ENSP00000298032:p.Val455Met					ARMC3_uc010qcv.2_Missense_Mutation_p.V455M|ARMC3_uc010qcw.2_Missense_Mutation_p.V192M	p.V455M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			10	1446	+			455					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1363G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154356	0.78114	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.73575	-0.76;-0.76;0.77;0.26	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.137557	0.49305	D	0.000154	D	0.87783	0.6264	M	0.82323	2.585	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.974	D	0.89199	0.3556	10	0.87932	D	0	-14.0326	19.2475	0.93908	0.0:0.0:1.0:0.0	.	455;455	Q5W041-4;Q5W041	.;ARMC3_HUMAN	M	455;455;391;455;192	ENSP00000298032:V455M;ENSP00000386943:V455M;ENSP00000387288:V455M;ENSP00000365711:V192M	ENSP00000298032:V455M	V	+	1	0	ARMC3	23327270	1.000000	0.71417	0.950000	0.38849	0.742000	0.42306	6.267000	0.72546	2.548000	0.85928	0.467000	0.42956	GTG		0.498	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
Unknown	0	broad.mit.edu	37	10	135491100	135491100	+	IGR	SNP	G	G	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:135491100G>T								AL845259.1 (17921 upstream) : None (None downstream)																							CTGCTCCCTCGTGGGTCGCCT	0.761																																						uc021qbj.1																			0													Homo sapiens double homeobox 2 (DUX2), mRNA.							14.0	17.0	16.0					10																	135491100		1152	2200	3352	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491100G>T																													10.37:g.135491100G>T						DUX4L3_uc010qvh.1_Silent_p.S237S|DUX4L3_uc021qbi.1_5'UTR		NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN					+									Silent	SNP		37																																																																																					0	0.761								
MICAL2	9645	broad.mit.edu	37	11	12261088	12261088	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr11:12261088G>A	ENST00000256194.4	+	17	2458	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	MICAL2_ENST00000527546.1_Missense_Mutation_p.A724T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A724T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A724T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A724T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	724					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2170-2172)Gcc>Acc		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							132.0	107.0	115.0					11																	12261088		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12261088G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2170G>A	11.37:g.12261088G>A	ENSP00000256194:p.Ala724Thr					MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.3_Missense_Mutation_p.A724T|MICAL2_uc010rci.2_Missense_Mutation_p.A724T|MICAL2_uc001mkb.3_Missense_Mutation_p.A724T|MICAL2_uc001mkc.3_Missense_Mutation_p.A724T|MICAL2_uc001mkd.3_Missense_Mutation_p.A553T|MICAL2_uc010rcj.2_Missense_Mutation_p.A126T|MICAL2_uc001mkf.3_Non-coding_Transcript	p.A724T	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	16	2458	+			724					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2170G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837971	0.91117	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.65178	-0.0;-0.14;-0.0;-0.14;0.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.62723	1.935	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.992;1.0;1.0;0.998;1.0;1.0	P;D;D;D;D;D	0.91635	0.904;0.999;0.998;0.96;0.998;0.994	T	0.75900	-0.3154	10	0.40728	T	0.16	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	257;724;724;724;724;724	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	T	724;257;724;724;724;724	ENSP00000441689:A724T;ENSP00000256194:A724T;ENSP00000433965:A724T;ENSP00000344894:A724T;ENSP00000368932:A724T	ENSP00000256194:A724T	A	+	1	0	MICAL2	12217664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.845000	0.86875	2.557000	0.86248	0.655000	0.94253	GCC		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
ABCC9	10060	broad.mit.edu	37	12	21954093	21954093	+	Missense_Mutation	SNP	G	G	A	rs554811993		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:21954093G>A	ENST00000261200.4	-	38	4534	c.4535C>T	c.(4534-4536)aCg>aTg	p.T1512M		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1512	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGGTCTGCCGTCAGAATAGT	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0					uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4534-4536)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						95.0	88.0	91.0					12																	21954093		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21954093G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4535C>T	12.37:g.21954093G>A	ENSP00000261200:p.Thr1512Met						p.T1512M	NM_020297	NP_064693	O60706	ABCC9_HUMAN			37	4555	-			1512			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261200.4	37	c.4535C>T	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042422	0.75732	.	.	ENSG00000069431	ENST00000261200	T	0.79247	-1.25	4.88	4.88	0.63580	.	0.224693	0.47093	D	0.000258	T	0.65790	0.2725	N	0.16307	0.4	0.80722	D	1	P;P	0.48998	0.84;0.918	B;B	0.42798	0.398;0.39	T	0.72440	-0.4293	10	0.87932	D	0	-3.1825	13.5393	0.61664	0.0:0.0:0.8443:0.1557	.	1512;83	O60706-2;Q8N9N1	.;.	M	1512	ENSP00000261200:T1512M	ENSP00000261200:T1512M	T	-	2	0	ABCC9	21845360	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.073000	0.71245	2.695000	0.91970	0.650000	0.86243	ACG		0.383	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691	
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:55758950C>T	ENST00000343399.3	+	1	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(55-57)cCa>cTa		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							134.0	133.0	133.0					12																	55758950		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758950C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.56C>T	12.37:g.55758950C>T	ENSP00000368987:p.Pro19Leu						p.P19L	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	56	+			19						Missense_Mutation	SNP	ENST00000343399.3	37	c.56C>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890191	0.33348	.	.	ENSG00000187857	ENST00000343399	T	0.00421	7.46	5.18	4.3	0.51218	.	0.000000	0.40222	U	0.001142	T	0.00440	0.0014	M	0.65975	2.015	0.33558	D	0.59697	B	0.21309	0.054	B	0.23852	0.049	T	0.31916	-0.9926	10	0.72032	D	0.01	.	8.9569	0.35823	0.0:0.7668:0.1505:0.0827	.	19	A6NL08	O6C75_HUMAN	L	19	ENSP00000368987:P19L	ENSP00000368987:P19L	P	+	2	0	OR6C75	54045217	0.000000	0.05858	0.493000	0.27502	0.970000	0.65996	0.273000	0.18662	1.417000	0.47077	0.586000	0.80456	CCA		0.363	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
CUX2	23316	broad.mit.edu	37	12	111742051	111742051	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:111742051G>A	ENST00000261726.6	+	10	945	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	AC002979.1_ENST00000408459.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	264					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAAGTCTCCGGGAACAGCTG	0.652																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(790-792)cGg>cAg		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							41.0	49.0	46.0					12																	111742051		2053	4174	6227	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111742051G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.791G>A	12.37:g.111742051G>A	ENSP00000261726:p.Arg264Gln						p.R264Q	NM_015267	NP_056082	O14529	CUX2_HUMAN			9	945	+			264					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.791G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050764	0.93740	.	.	ENSG00000111249	ENST00000261726	T	0.58506	0.33	4.65	4.65	0.58169	.	0.051786	0.85682	D	0.000000	T	0.69611	0.3130	M	0.69823	2.125	0.40460	D	0.980233	D	0.71674	0.998	P	0.54372	0.75	T	0.74728	-0.3567	10	0.52906	T	0.07	-23.5859	17.8962	0.88888	0.0:0.0:1.0:0.0	.	264	O14529	CUX2_HUMAN	Q	264	ENSP00000261726:R264Q	ENSP00000261726:R264Q	R	+	2	0	CUX2	110226434	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	7.006000	0.76329	2.301000	0.77427	0.460000	0.39030	CGG		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL																																	uc001vaz.4				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)Cga>Tga		Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.							132.0	121.0	125.0					13																	46718596		2203	4300	6503	SO:0001587	stop_gained	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718596G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1234C>T	13.37:g.46718596G>A	ENSP00000381581:p.Arg412*					LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Nonsense_Mutation_p.R9*|LCP1_uc001vba.4_Nonsense_Mutation_p.R412*	p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	10	1360	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	c.1234C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637788	0.98895	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	.	.	.	5.91	5.06	0.68205	.	0.117460	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5	16.4266	0.83816	0.0:0.1311:0.8689:0.0	.	.	.	.	X	412	.	ENSP00000315757:R412X	R	-	1	2	LCP1	45616597	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.829000	0.69316	1.488000	0.48433	0.555000	0.69702	CGA		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
RGS6	9628	broad.mit.edu	37	14	72943451	72943451	+	Splice_Site	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr14:72943451C>G	ENST00000553530.1	+	11	902	c.695C>G	c.(694-696)tCc>tGc	p.S232C	RGS6_ENST00000554782.1_Splice_Site_p.S93C|RGS6_ENST00000407322.4_Splice_Site_p.S232C|RGS6_ENST00000553525.1_Splice_Site_p.S232C|RGS6_ENST00000406236.4_Splice_Site_p.S232C|RGS6_ENST00000404301.2_Splice_Site_p.S232C|RGS6_ENST00000434263.2_Splice_Site_p.S163C|RGS6_ENST00000343854.6_Splice_Site_p.S232C|RGS6_ENST00000402788.2_Splice_Site_p.S232C|RGS6_ENST00000556437.1_Splice_Site_p.S232C|RGS6_ENST00000555571.1_Splice_Site_p.S232C|RGS6_ENST00000355512.6_Splice_Site_p.S232C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	232					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.517																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.4																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e11-1		Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.							110.0	94.0	99.0					14																	72943451		2203	4300	6503	SO:0001630	splice_region_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72943451C>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.694-1C>G	14.37:g.72943451C>G						RGS6_uc021rvv.1_Splice_Site_p.S197_splice|RGS6_uc010ttn.2_Splice_Site_p.S232_splice|RGS6_uc021rvw.1_Splice_Site_p.S232_splice|RGS6_uc021rvx.1_Splice_Site_p.S232_splice|RGS6_uc021rvy.1_Splice_Site_p.S232_splice|RGS6_uc021rvz.1_Splice_Site_p.S232_splice|RGS6_uc001xmy.4_Splice_Site_p.S232_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.S232_splice|RGS6_uc021rwa.1_Splice_Site_p.S232_splice|RGS6_uc021rwb.1_Splice_Site_p.S232_splice|RGS6_uc010ttp.1_Splice_Site_p.S163_splice|RGS6_uc021rwc.1_Splice_Site_p.S93_splice	p.S232_splice	NM_001204423	NP_001191352	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	11	1217	+			232					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.694_splice	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553363	0.65425	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.56;1.42;1.42;1.56;1.43;1.57;1.57;1.56;1.42;1.45;1.52;1.57	5.41	5.41	0.78517	.	0.118380	0.64402	D	0.000011	T	0.47229	0.1434	L	0.43152	1.355	0.80722	D	1	D;B;B;B	0.67145	0.996;0.047;0.027;0.011	P;B;B;B	0.60886	0.88;0.049;0.028;0.022	T	0.37526	-0.9702	10	0.59425	D	0.04	0.018	19.5424	0.95280	0.0:1.0:0.0:0.0	.	163;232;237;232	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	C	232;232;232;232;232;232;232;232;232;232;204;163;93;93	ENSP00000451030:S232C;ENSP00000450936:S232C;ENSP00000452331:S232C;ENSP00000451855:S232C;ENSP00000347699:S232C;ENSP00000385243:S232C;ENSP00000384218:S232C;ENSP00000384612:S232C;ENSP00000383953:S232C;ENSP00000341199:S232C;ENSP00000412144:S163C;ENSP00000451912:S93C	ENSP00000341199:S232C	S	+	2	0	RGS6	72013204	1.000000	0.71417	0.968000	0.41197	0.273000	0.26683	7.320000	0.79064	2.706000	0.92434	0.561000	0.74099	TCC		0.517	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		Missense_Mutation
CCPG1	9236	broad.mit.edu	37	15	55652658	55652658	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:55652658A>G	ENST00000310958.6	-	8	1611	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	CCPG1_ENST00000569205.1_Missense_Mutation_p.L438P|CCPG1_ENST00000442196.3_Missense_Mutation_p.L438P|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	438					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413																																						uc010bfk.2																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1312-1314)cTa>cCa		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.							226.0	209.0	214.0					15																	55652658		1875	4124	5999	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652658A>G	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1313T>C	15.37:g.55652658A>G	ENSP00000311656:p.Leu438Pro					CCPG1_uc002acy.3_Missense_Mutation_p.L438P|CCPG1_uc002acu.2_Missense_Mutation_p.L294P|CCPG1_uc002acz.2_Missense_Mutation_p.L438P|CCPG1_uc002acw.2_Missense_Mutation_p.L163P|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.L438P|CCPG1_uc021smu.1_Missense_Mutation_p.L58P	p.L438P	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1612	-			438					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1313T>C	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260593	0.59431	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.41400	1.0;1.0	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.66368	-0.5941	10	0.72032	D	0.01	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	438;438;438;294	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	P	438	ENSP00000311656:L438P;ENSP00000403400:L438P	ENSP00000311656:L438P	L	-	2	0	DYX1C1	53439950	1.000000	0.71417	0.695000	0.30226	0.717000	0.41224	8.798000	0.91888	2.302000	0.77476	0.533000	0.62120	CTA		0.413	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
POLG	5428	broad.mit.edu	37	15	89876416	89876416	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:89876416G>A	ENST00000268124.5	-	2	903	c.570C>T	c.(568-570)ccC>ccT	p.P190P	POLG_ENST00000525806.1_5'UTR|POLG_ENST00000442287.2_Silent_p.P190P|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	190					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(568-570)ccC>ccT	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.							20.0	18.0	19.0					15																	89876416		2198	4295	6493	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876416G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.570C>T	15.37:g.89876416G>A						POLG_uc002bnr.4_Silent_p.P190P|TRNA_Arg_uc021sue.1_5'Flank	p.P190P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		1	852	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		190					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.570C>T	CCDS10350.1																																																																																				0.711	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
IFT140	9742	broad.mit.edu	37	16	1574572	1574572	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:1574572T>A	ENST00000426508.2	-	24	3485	c.3122A>T	c.(3121-3123)aAt>aTt	p.N1041I	IFT140_ENST00000361339.5_Missense_Mutation_p.N235I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1041					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652																																						uc002cmb.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3121-3123)aAt>aTt		Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.							33.0	38.0	36.0					16																	1574572		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1574572T>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3122A>T	16.37:g.1574572T>A	ENSP00000406012:p.Asn1041Ile					IFT140_uc002clz.3_Missense_Mutation_p.N654I	p.N1041I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			23	3484	-		Hepatocellular(780;0.219)	1041					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3122A>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818752	0.90790	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.63255	-0.03;0.59	5.27	5.27	0.74061	.	0.106321	0.64402	D	0.000007	T	0.76521	0.3999	M	0.85710	2.77	0.80722	D	1	P;P	0.43788	0.722;0.817	P;P	0.53360	0.461;0.724	T	0.78173	-0.2307	10	0.40728	T	0.16	.	15.2393	0.73455	0.0:0.0:0.0:1.0	.	1041;728	Q96RY7;B4DR58	IF140_HUMAN;.	I	1041;235;1041	ENSP00000354895:N235I;ENSP00000406012:N1041I	ENSP00000354895:N235I	N	-	2	0	IFT140	1514573	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.887000	0.87295	2.015000	0.59207	0.454000	0.30748	AAT		0.652	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
ZNF768	79724	broad.mit.edu	37	16	30535896	30535897	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30535896_30535897AA>GC	ENST00000380412.5	-	2	1739_1740	c.1564_1565TT>GC	c.(1564-1566)TTc>GCc	p.F522A	ZNF768_ENST00000562803.1_Missense_Mutation_p.F491A	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	522					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGGAGAAGGCCTTTCCG	0.678																																						uc002dyk.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1564-1566)ttc>GCc		Homo sapiens zinc finger protein 768 (ZNF768), mRNA.																																				SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30535896_30535897AA>GC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1564_1565delinsGC	16.37:g.30535896_30535897delinsGC	ENSP00000369777:p.Phe522Ala					ZNF768_uc010vex.2_Missense_Mutation_p.F491A|ZNF768_uc010vew.2_Missense_Mutation_p.F491A	p.F522A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	1740_1741	-			522					Q569L7|Q96CX4	Missense_Mutation	DNP	ENST00000380412.5	37	c.1564_1565TT>GC	CCDS10681.2																																																																																				0.678	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
ZNF629	23361	broad.mit.edu	37	16	30795519	30795519	+	Missense_Mutation	SNP	T	T	G	rs552491350		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30795519T>G	ENST00000262525.4	-	3	337	c.130A>C	c.(130-132)Atc>Ctc	p.I44L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577																																						uc002dzs.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(130-132)Atc>Ctc		Homo sapiens zinc finger protein 629 (ZNF629), mRNA.							32.0	31.0	31.0					16																	30795519		1858	4090	5948	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795519T>G	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.130A>C	16.37:g.30795519T>G	ENSP00000262525:p.Ile44Leu						p.I44L	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		2	338	-			44					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.130A>C	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438077	0.43326	.	.	ENSG00000102870	ENST00000262525	T	0.08370	3.1	4.94	-4.42	0.03579	.	0.718167	0.11997	N	0.509183	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47058	-0.9146	10	0.11485	T	0.65	-9.4593	7.2102	0.25929	0.0:0.4357:0.2175:0.3468	.	44	Q9UEG4	ZN629_HUMAN	L	44	ENSP00000262525:I44L	ENSP00000262525:I44L	I	-	1	0	ZNF629	30703020	0.000000	0.05858	0.994000	0.49952	0.996000	0.88848	-3.466000	0.00461	-0.319000	0.08652	0.533000	0.62120	ATC		0.577	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309	
PKD1L2	114780	broad.mit.edu	37	16	81151072	81151072	+	RNA	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:81151072G>A	ENST00000534142.1	-	0	1064				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATGATGGCCAGCTCCAG	0.612																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(6670-6672)gCc>gTc		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							81.0	84.0	83.0					16																	81151072		1960	4149	6109			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81151072G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81151072G>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_Non-coding_Transcript	p.A2224V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			40	6671	-			2226					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6671C>T																																																																																					0.612	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CI032771|CI064710	NF1	I		c.(1015-1020)aactctfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527568_29527569delCT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1017_1018delCT	17.37:g.29527570_29527571delCT	ENSP00000351015:p.Ser340fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	p.N339fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	8	1400_1401	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	339					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1017_1018delCT	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29684388	29684391	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29684388_29684391delGTAA	ENST00000358273.4	+	54	8353		c.e54+1		NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCCTGTTGTGTAAGTATCTCCTT	0.377			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS000892	NF1	S		c.e54+1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684388_29684391delGTAA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7970+1GTAA>-	17.37:g.29684388_29684391delGTAA		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	p.V2657_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	54	8353	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2657					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	ENST00000358273.4	37	c.7970_splice	CCDS42292.1																																																																																				0.377	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
KRT31	3881	broad.mit.edu	37	17	39550299	39550299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:39550299C>T	ENST00000251645.2	-	7	1272	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	407	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632																																						uc002hwn.3																			0		p.P406A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1219-1221)cGc>cAc		Homo sapiens keratin 31 (KRT31), mRNA.							60.0	54.0	56.0					17																	39550299		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550299C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1220G>A	17.37:g.39550299C>T	ENSP00000251645:p.Arg407His					KRT31_uc010cxn.3_3'UTR	p.R407H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			6	1273	-		Breast(137;0.000496)	407			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1220G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	15.90	2.968086	0.53614	.	.	ENSG00000094796	ENST00000251645	D	0.81821	-1.54	5.52	3.51	0.40186	.	0.127917	0.36740	N	0.002423	T	0.76709	0.4025	M	0.70595	2.14	0.31116	N	0.709458	B	0.09022	0.002	B	0.04013	0.001	T	0.73049	-0.4105	10	0.46703	T	0.11	.	8.7085	0.34369	0.0:0.8234:0.0:0.1766	.	407	Q15323	K1H1_HUMAN	H	407	ENSP00000251645:R407H	ENSP00000251645:R407H	R	-	2	0	KRT31	36803825	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.399000	0.20916	0.697000	0.31718	0.655000	0.94253	CGC		0.632	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
LAMA1	284217	broad.mit.edu	37	18	6985300	6985300	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:6985300C>T	ENST00000389658.3	-	39	5689	c.5596G>A	c.(5596-5598)Gac>Aac	p.D1866N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1866	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAGACCAGGTCGACTGCGTTC	0.507																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5596-5598)Gac>Aac		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						202.0	166.0	178.0					18																	6985300		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985300C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5596G>A	18.37:g.6985300C>T	ENSP00000374309:p.Asp1866Asn					LAMA1_uc010wzj.2_Missense_Mutation_p.D1342N	p.D1866N	NM_005559	NP_005550	P25391	LAMA1_HUMAN			38	5690	-		Colorectal(10;0.172)	1866			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5596G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888213	0.17540	.	.	ENSG00000101680	ENST00000389658	T	0.18174	2.23	5.58	3.71	0.42584	.	0.467993	0.22107	N	0.064540	T	0.17152	0.0412	L	0.59436	1.845	0.18873	N	0.999989	B	0.19935	0.04	B	0.08055	0.003	T	0.12344	-1.0551	10	0.44086	T	0.13	.	9.8325	0.40950	0.0:0.7879:0.1375:0.0746	.	1866	P25391	LAMA1_HUMAN	N	1866	ENSP00000374309:D1866N	ENSP00000374309:D1866N	D	-	1	0	LAMA1	6975300	0.926000	0.31397	0.064000	0.19789	0.020000	0.10135	1.788000	0.38714	1.294000	0.44707	0.655000	0.94253	GAC		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
EPG5	57724	broad.mit.edu	37	18	43488003	43488003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:43488003G>A	ENST00000282041.5	-	24	4283	c.4249C>T	c.(4249-4251)Caa>Taa	p.Q1417*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1417					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTCCTTTTTGAAAATTCTCA	0.328																																						uc002lbm.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4249-4251)Caa>Taa		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							68.0	70.0	70.0					18																	43488003		1812	4064	5876	SO:0001587	stop_gained	57724				autophagy			g.chr18:43488003G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4249C>T	18.37:g.43488003G>A	ENSP00000282041:p.Gln1417*					EPG5_uc002lbo.1_Nonsense_Mutation_p.Q1417*|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Nonsense_Mutation_p.Q292*	p.Q1417*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			23	4349	-			1417					A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	c.4249C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	45	11.590012	0.99580	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	5.91	5.91	0.95273	.	1.218800	0.05483	N	0.555126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3228	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	1417;292	.	ENSP00000282041:Q1417X	Q	-	1	0	EPG5	41742001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.684000	0.91242	2.802000	0.96397	0.655000	0.94253	CAA		0.328	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ME2	4200	broad.mit.edu	37	18	48450505	48450505	+	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:48450505T>G	ENST00000321341.5	+	11	1366	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	ME2_ENST00000382927.3_Missense_Mutation_p.F365C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	365					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CAGGAACCATTTACTCACTCA	0.313																																						uc002ley.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(1093-1095)tTt>tGt		Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						112.0	111.0	111.0					18																	48450505		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48450505T>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1094T>G	18.37:g.48450505T>G	ENSP00000321070:p.Phe365Cys					ME2_uc010dpd.3_Missense_Mutation_p.F365C	p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	10	1353	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	365					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.1094T>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418515	0.42918	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.33654	1.4;1.4	5.56	4.37	0.52481	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.045547	0.85682	D	0.000000	T	0.69070	0.3070	H	0.95850	3.73	0.50171	D	0.999859	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.75482	-0.3302	10	0.87932	D	0	-18.7093	9.707	0.40222	0.16:0.0:0.0:0.84	.	365;365	Q9BWL6;P23368	.;MAOM_HUMAN	C	365	ENSP00000321070:F365C;ENSP00000372384:F365C	ENSP00000321070:F365C	F	+	2	0	ME2	46704503	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.083000	0.57643	1.005000	0.39183	0.528000	0.53228	TTT		0.313	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396	
ZNF350	59348	broad.mit.edu	37	19	52472376	52472376	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:52472376T>C	ENST00000243644.4	-	3	251	c.24A>G	c.(22-24)atA>atG	p.I8M	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'UTR	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453																																						uc002pyd.3																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(22-24)atA>atG		Homo sapiens zinc finger protein 350 (ZNF350), mRNA.							119.0	110.0	113.0					19																	52472376		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52472376T>C	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.24A>G	19.37:g.52472376T>C	ENSP00000243644:p.Ile8Met					BC014606_uc002pyc.3_Intron	p.I8M	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	2	252	-		all_neural(266;0.0505)	8			KRAB.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.24A>G	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	T	7.491	0.650625	0.14516	.	.	ENSG00000256683	ENST00000243644	T	0.01821	4.62	3.43	-6.64	0.01801	Krueppel-associated box (4);	0.720633	0.10770	N	0.636180	T	0.00875	0.0029	N	0.04994	-0.135	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46992	-0.9151	10	0.51188	T	0.08	.	5.3763	0.16166	0.0:0.2532:0.4426:0.3043	.	8	Q9GZX5	ZN350_HUMAN	M	8	ENSP00000243644:I8M	ENSP00000243644:I8M	I	-	3	3	ZNF350	57164188	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-1.061000	0.03185	-2.648000	0.00150	ATA		0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
PEG3	5178	broad.mit.edu	37	19	57327924	57327924	+	Missense_Mutation	SNP	C	C	G	rs140555816		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327924C>G	ENST00000326441.9	-	10	2249	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C503S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C505S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C629S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	629					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACACCTTACATTCGTACAT	0.443																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1885-1887)tGt>tCt		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							98.0	95.0	96.0					19																	57327924		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327924C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1886G>C	19.37:g.57327924C>G	ENSP00000326581:p.Cys629Ser					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	p.C629S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2237	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	629					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1886G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664471	0.67700	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	D;D	0.99974	-10.2;-10.2	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255329	0.27627	N	0.018531	D	0.99972	0.9991	M	0.84433	2.695	.	.	.	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.958;0.994;0.999	D	0.94792	0.7963	9	0.87932	D	0	-12.7501	14.7172	0.69277	0.0:1.0:0.0:0.0	.	505;629;564	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	629	ENSP00000326581:C629S;ENSP00000403051:C629S	ENSP00000326581:C629S	C	-	2	0	ZIM2	62019736	1.000000	0.71417	0.040000	0.18447	0.765000	0.43378	6.658000	0.74407	2.596000	0.87737	0.650000	0.86243	TGT		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57327945	57327945	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327945C>G	ENST00000326441.9	-	10	2228	c.1865G>C	c.(1864-1866)gGt>gCt	p.G622A	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G496A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G498A|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G622A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	622					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCTCTTTACCATACATTTT	0.443																																						uc002qnu.2																			0		p.Y621Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1864-1866)gGt>gCt		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							79.0	76.0	77.0					19																	57327945		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327945C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1865G>C	19.37:g.57327945C>G	ENSP00000326581:p.Gly622Ala					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	p.G622A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2216	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	622					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1865G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.422	0.446055	0.12164	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14144	2.53;2.53	4.02	0.588	0.17445	.	1.280700	0.05475	N	0.553874	T	0.20536	0.0494	L	0.53249	1.67	.	.	.	B;D;P	0.62365	0.001;0.991;0.803	B;P;B	0.50109	0.002;0.631;0.338	T	0.31420	-0.9944	9	0.36615	T	0.2	-7.9048	8.0319	0.30470	0.0:0.366:0.5375:0.0964	.	498;622;557	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	A	622	ENSP00000326581:G622A;ENSP00000403051:G622A	ENSP00000326581:G622A	G	-	2	0	ZIM2	62019757	0.001000	0.12720	0.001000	0.08648	0.824000	0.46624	-0.129000	0.10515	0.235000	0.21160	-0.182000	0.12963	GGT		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328102C>G	ENST00000326441.9	-	10	2071	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E444Q|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E446Q|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E570Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	570					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1708-1710)Gaa>Caa		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							127.0	108.0	115.0					19																	57328102		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328102C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1708G>C	19.37:g.57328102C>G	ENSP00000326581:p.Glu570Gln					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	p.E570Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2059	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	570					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1708G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437154	0.62955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.01584	4.75;4.75	4.14	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000224	T	0.04048	0.0113	N	0.17474	0.49	.	.	.	P;D;D	0.89917	0.757;0.999;1.0	B;D;D	0.91635	0.429;0.996;0.999	T	0.50634	-0.8805	9	0.72032	D	0.01	-19.3328	12.025	0.53365	0.0:0.8237:0.1763:0.0	.	446;570;505	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	570	ENSP00000326581:E570Q;ENSP00000403051:E570Q	ENSP00000326581:E570Q	E	-	1	0	ZIM2	62019914	0.882000	0.30256	1.000000	0.80357	0.994000	0.84299	1.421000	0.34815	1.293000	0.44690	0.650000	0.86243	GAA		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57328544	57328544	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328544C>G	ENST00000326441.9	-	10	1629	c.1266G>C	c.(1264-1266)atG>atC	p.M422I	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M296I|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M298I|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M422I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	422					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCTTTTCTCATCTCACTAC	0.493																																						uc002qnu.2																			0		p.E421E(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1264-1266)atG>atC		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							150.0	148.0	149.0					19																	57328544		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328544C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1266G>C	19.37:g.57328544C>G	ENSP00000326581:p.Met422Ile					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	p.M422I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1617	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	422					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1266G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	9.256	1.042055	0.19748	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02446	4.29;4.29	4.14	3.11	0.35812	.	0.226336	0.31797	N	0.007056	T	0.02494	0.0076	L	0.29908	0.895	.	.	.	B;B;B	0.30914	0.3;0.131;0.167	B;B;B	0.23275	0.027;0.023;0.045	T	0.18967	-1.0320	9	0.72032	D	0.01	-10.748	10.0585	0.42259	0.0:0.9:0.0:0.1	.	298;422;357	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	422;422;392	ENSP00000326581:M422I;ENSP00000403051:M422I	ENSP00000292074:M392I	M	-	3	0	ZIM2	62020356	0.000000	0.05858	0.312000	0.25196	0.962000	0.63368	0.644000	0.24766	1.336000	0.45506	0.650000	0.86243	ATG		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
DHX57	90957	broad.mit.edu	37	2	39088222	39088222	+	Frame_Shift_Del	DEL	A	A	-	rs540582868		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:39088222delA	ENST00000295373.6	-	5	1456	c.1330delT	c.(1330-1332)tctfs	p.S444fs	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	444							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1330-1332)tctfs		Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.							124.0	128.0	127.0					2																	39088222		2203	4300	6503	SO:0001589	frameshift_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088222delA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1330delT	2.37:g.39088222delA	ENSP00000295373:p.Ser444fs					DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Frame_Shift_Del_p.S444fs	p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			4	1429	-		all_hematologic(82;0.248)	444					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Frame_Shift_Del	DEL	ENST00000295373.6	37	c.1330delT	CCDS1800.1																																																																																				0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
SEMA4F	10505	broad.mit.edu	37	2	74902997	74902997	+	Missense_Mutation	SNP	G	G	A	rs146294784		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:74902997G>A	ENST00000357877.2	+	12	1753	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.R380Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	535	PSI.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGCTTCCGGCTGGATGAG	0.587																																						uc002sna.1																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1603-1605)cGg>cAg		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.		G	GLN/ARG	0,4406		0,0,2203	73.0	69.0	71.0		1604	0.6	1.0	2	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	missense	SEMA4F	NM_004263.3	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	535/771	74902997	3,13003	2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902997G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1604G>A	2.37:g.74902997G>A	ENSP00000350547:p.Arg535Gln					SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	p.R535Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN			11	1715	+			535			PSI.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1604G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	9.668	1.146065	0.21288	0.0	3.49E-4	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.15834	2.39;2.39	4.38	0.55	0.17219	.	3.400850	0.00894	N	0.002276	T	0.11879	0.0289	N	0.20986	0.625	0.30091	N	0.808311	B;B	0.17038	0.02;0.004	B;B	0.13407	0.006;0.009	T	0.29058	-1.0024	10	0.13108	T	0.6	.	6.5029	0.22178	0.4218:0.0:0.5782:0.0	.	380;535	O95754-2;O95754	.;SEM4F_HUMAN	Q	535;380	ENSP00000350547:R535Q;ENSP00000342675:R380Q	ENSP00000342675:R380Q	R	+	2	0	SEMA4F	74756505	0.000000	0.05858	0.992000	0.48379	0.748000	0.42578	-0.090000	0.11163	-0.081000	0.12662	0.467000	0.42956	CGG		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
KYNU	8942	broad.mit.edu	37	2	143713833	143713833	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:143713833C>A	ENST00000264170.4	+	6	755	c.497C>A	c.(496-498)cCt>cAt	p.P166H	KYNU_ENST00000375773.2_Missense_Mutation_p.P166H|KYNU_ENST00000409512.1_Missense_Mutation_p.P166H	NM_003937.2	NP_003928.1			kynureninase									p.P166L(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AAAGCCTTCCCTTCTGATCAT	0.343																																						uc010fnm.3																			1	Substitution - Missense(1)	p.P166L(2)	skin(1)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(496-498)cCt>cAt		Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						114.0	115.0	115.0					2																	143713833		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143713833C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.497C>A	2.37:g.143713833C>A	ENSP00000264170:p.Pro166His					KYNU_uc002tvk.3_Missense_Mutation_p.P166H|KYNU_uc002tvl.3_Missense_Mutation_p.P166H	p.P166H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	6	713	+			166			Pyridoxal phosphate binding.			Missense_Mutation	SNP	ENST00000264170.4	37	c.497C>A	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094686	0.76870	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.84873	-1.91;-1.91;-1.91	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.120626	0.64402	D	0.000020	D	0.94857	0.8338	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.966	D	0.96482	0.9357	10	0.87932	D	0	.	18.1028	0.89510	0.0:1.0:0.0:0.0	.	166;166	Q16719;Q9BVW3	KYNU_HUMAN;.	H	166	ENSP00000264170:P166H;ENSP00000364928:P166H;ENSP00000386731:P166H	ENSP00000264170:P166H	P	+	2	0	KYNU	143430303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.315000	0.65810	2.361000	0.80049	0.591000	0.81541	CCT		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
SPC25	57405	broad.mit.edu	37	2	169728042	169728042	+	Missense_Mutation	SNP	C	C	T	rs146133605	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:169728042C>T	ENST00000282074.2	-	7	715	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	192	Interaction with the C-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GCTAGGCCCTCAAGATGAGGG	0.338																																						uc002uel.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(574-576)Gag>Aag		Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.							88.0	93.0	91.0					2																	169728042		2203	4300	6503	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169728042C>T	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.574G>A	2.37:g.169728042C>T	ENSP00000282074:p.Glu192Lys						p.E192K	NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN			6	705	-			192			Interaction with the C-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.574G>A	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534265	0.64972	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.99	5.11	0.69529	.	0.149485	0.64402	D	0.000017	T	0.55162	0.1903	L	0.61387	1.9	0.58432	D	0.999991	P	0.36974	0.576	B	0.37239	0.244	T	0.58306	-0.7659	9	0.49607	T	0.09	-18.6086	12.9298	0.58280	0.0:0.9223:0.0:0.0777	.	192	Q9HBM1	SPC25_HUMAN	K	192	.	ENSP00000282074:E192K	E	-	1	0	SPC25	169436288	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.295000	0.43576	2.852000	0.98041	0.637000	0.83480	GAG		0.338	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675	
LRP2	4036	broad.mit.edu	37	2	170050292	170050292	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:170050292C>T	ENST00000263816.3	-	47	9094	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2937	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTTTTATCCTCGTCACTCATA	0.473																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8809-8811)Gag>Aag		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						253.0	220.0	231.0					2																	170050292		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050292C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8809G>A	2.37:g.170050292C>T	ENSP00000263816:p.Glu2937Lys						p.E2937K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	9022	-			2937			LDL-receptor class A 21.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8809G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.033436	0.97221	.	.	ENSG00000081479	ENST00000263816	D	0.98849	-5.18	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.045785	0.85682	D	0.000000	D	0.99594	0.9853	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97710	1.0190	10	0.87932	D	0	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2937	P98164	LRP2_HUMAN	K	2937	ENSP00000263816:E2937K	ENSP00000263816:E2937K	E	-	1	0	LRP2	169758538	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.625000	0.83145	2.778000	0.95560	0.655000	0.94253	GAG		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
SLC12A5	57468	broad.mit.edu	37	20	44669236	44669236	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:44669236C>T	ENST00000454036.2	+	7	955	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC12A5_ENST00000243964.3_Silent_p.F279F|SLC12A5_ENST00000372315.1_Silent_p.F279F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	302					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCTGCCTTCGACCCACCCA	0.557																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(904-906)ttC>ttT		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						234.0	188.0	204.0					20																	44669236		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669236C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.906C>T	20.37:g.44669236C>T						SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	p.F302F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	982	+		Myeloproliferative disorder(115;0.0122)	302					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.906C>T	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
STAU1	6780	broad.mit.edu	37	20	47734907	47734907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47734907delG	ENST00000371856.2	-	10	1562	c.1152delC	c.(1150-1152)accfs	p.T384fs	STAU1_ENST00000360426.4_Frame_Shift_Del_p.T303fs|STAU1_ENST00000347458.5_Frame_Shift_Del_p.T303fs|STAU1_ENST00000371828.3_Frame_Shift_Del_p.T309fs|STAU1_ENST00000371792.1_Frame_Shift_Del_p.T301fs|STAU1_ENST00000340954.7_Frame_Shift_Del_p.T303fs|STAU1_ENST00000371802.1_Frame_Shift_Del_p.T309fs	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2). {ECO:0000305}.	intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388																																						uc002xud.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1150-1152)accfs		Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.							118.0	114.0	115.0					20																	47734907		2203	4300	6503	SO:0001589	frameshift_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734907delG		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1152delC	20.37:g.47734907delG	ENSP00000360922:p.Thr384fs					STAU1_uc002xua.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.3_Frame_Shift_Del_p.T384fs	p.T384fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		9	1563	-			384	QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).				A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Frame_Shift_Del	DEL	ENST00000371856.2	37	c.1152delC	CCDS13414.1																																																																																				0.388	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	A	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47989844A>C	ENST00000371741.4	-	2	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	751					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G751G(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTGGTGGACACCCGCCTCAA	0.572																																						uc002xur.1																			2	Substitution - coding silent(2)	p.G751G(4)	prostate(1)|kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2251-2253)ggT>ggG		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.							109.0	119.0	116.0					20																	47989844		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989844A>C	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2253T>G	20.37:g.47989844A>C						KCNB1_uc002xus.1_Silent_p.G751G	p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	2419	-			751					Q14193	Silent	SNP	ENST00000371741.4	37	c.2253T>G	CCDS13418.1																																																																																				0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
GPD1L	23171	broad.mit.edu	37	3	32180198	32180198	+	Silent	SNP	G	G	A	rs149167213		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:32180198G>A	ENST00000282541.5	+	3	546	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	115					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						CCAAGAAAGCGCTGGGAATCA	0.502																																						uc003cew.3																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(343-345)gcG>gcA		Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	98.0	91.0	94.0		345	-11.3	0.2	3	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	GPD1L	NM_015141.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		115/352	32180198	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32180198G>A	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.345G>A	3.37:g.32180198G>A							p.A115A	NM_015141	NP_055956	Q8N335	GPD1L_HUMAN			2	546	+			115					A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	c.345G>A	CCDS33729.1																																																																																				0.502	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141	
RUVBL1	8607	broad.mit.edu	37	3	127806571	127806571	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:127806571T>C	ENST00000322623.5	-	9	1196	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	RUVBL1_ENST00000464873.1_Missense_Mutation_p.Y306C|RUVBL1_ENST00000480616.1_5'UTR|RUVBL1_ENST00000417360.1_Missense_Mutation_p.Y366C	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	366					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.507																																						uc003ekh.3																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1096-1098)tAt>tGt		Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.							230.0	188.0	202.0					3																	127806571		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127806571T>C	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1097A>G	3.37:g.127806571T>C	ENSP00000318297:p.Tyr366Cys					RUVBL1_uc003ekf.3_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.3_Missense_Mutation_p.Y366C	p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	8	1201	-			366					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.1097A>G	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693768	0.68386	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	T;T;T	0.79454	-1.05;-1.27;-0.72	4.97	3.82	0.43975	TIP49, C-terminal (1);	0.056451	0.64402	N	0.000001	D	0.91560	0.7334	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.984;1.0;1.0	D	0.92068	0.5662	10	0.87932	D	0	-15.0374	10.4596	0.44572	0.0:0.0769:0.0:0.9231	.	366;366;306	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	C	306;366;366;177	ENSP00000420738:Y306C;ENSP00000318297:Y366C;ENSP00000393755:Y366C	ENSP00000318297:Y366C	Y	-	2	0	RUVBL1	129289261	1.000000	0.71417	0.965000	0.40720	0.845000	0.48019	7.828000	0.86729	0.749000	0.32854	0.482000	0.46254	TAT		0.507	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		101	Substitution - Missense(101)	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)Cag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61.0	61.0	61.0					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936094C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1793	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1636C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MFSD10	10227	broad.mit.edu	37	4	2934851	2934851	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:2934851C>T	ENST00000329687.4	-	3	888	c.354G>A	c.(352-354)ccG>ccA	p.P118P	MFSD10_ENST00000514800.1_Silent_p.P118P|MFSD10_ENST00000507555.1_Silent_p.P118P|MFSD10_ENST00000355443.4_Silent_p.P118P|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000508221.1_Silent_p.P118P|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	118					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627																																						uc003gfw.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(352-354)ccG>ccA		Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.							39.0	42.0	41.0					4																	2934851		2198	4300	6498	SO:0001819	synonymous_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934851C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.354G>A	4.37:g.2934851C>T						MFSD10_uc021xks.1_Silent_p.P42P|MFSD10_uc003gfz.3_Silent_p.P118P|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	p.P118P	NM_001120	NP_001139541	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	668	-			118					Q07706	Silent	SNP	ENST00000329687.4	37	c.354G>A	CCDS3365.1																																																																																				0.627	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120	
UGT2A3	79799	broad.mit.edu	37	4	69798434	69798434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:69798434A>G	ENST00000251566.4	-	3	938	c.908T>C	c.(907-909)gTg>gCg	p.V303A	UGT2A3_ENST00000420231.2_Missense_Mutation_p.V14A	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	303					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAAACACCACAATACCATC	0.363																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(907-909)gTg>gCg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							139.0	140.0	140.0					4																	69798434		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798434A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.908T>C	4.37:g.69798434A>G	ENSP00000251566:p.Val303Ala					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.V303A	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	939	-			303					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.908T>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478413	0.44044	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.72051	-0.62;2.64	2.08	2.08	0.27032	.	0.066659	0.64402	D	0.000015	D	0.83995	0.5375	M	0.93638	3.44	0.29646	N	0.844377	D	0.63880	0.993	D	0.64144	0.922	T	0.79249	-0.1881	10	0.87932	D	0	.	7.7361	0.28815	1.0:0.0:0.0:0.0	.	303	Q6UWM9	UD2A3_HUMAN	A	303;14	ENSP00000251566:V303A;ENSP00000440115:V14A	ENSP00000251566:V303A	V	-	2	0	UGT2A3	69833023	0.995000	0.38212	0.779000	0.31741	0.415000	0.31203	7.498000	0.81546	0.948000	0.37687	0.459000	0.35465	GTG		0.363	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
PRKG2	5593	broad.mit.edu	37	4	82125748	82125748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:82125748delC	ENST00000395578.1	-	2	570	c.454delG	c.(454-456)gacfs	p.D152fs	PRKG2_ENST00000418486.2_Frame_Shift_Del_p.D152fs|PRKG2_ENST00000264399.1_Frame_Shift_Del_p.D152fs			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	152					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACCTGGAGTCTTTTCTGACT	0.428																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(454-456)gacfs		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							166.0	197.0	187.0					4																	82125748		2203	4299	6502	SO:0001589	frameshift_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82125748delC	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.454delG	4.37:g.82125748delC	ENSP00000378945:p.Asp152fs					PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN			0	467	-			152					B4DMX3|E7EPE6|O00125|O60916	Frame_Shift_Del	DEL	ENST00000395578.1	37	c.454delG	CCDS3589.1																																																																																				0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
FGG	2266	broad.mit.edu	37	4	155527975	155527975	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:155527975C>A	ENST00000336098.3	-	8	1049	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FGG_ENST00000404648.3_Missense_Mutation_p.Q337H|FGG_ENST00000407946.1_Missense_Mutation_p.Q345H|FGG_ENST00000405164.1_Missense_Mutation_p.Q345H	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	337	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1009-1011)caG>caT		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						256.0	231.0	240.0					4																	155527975		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155527975C>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1011G>T	4.37:g.155527975C>A	ENSP00000336829:p.Gln337His					FGG_uc003iog.3_Missense_Mutation_p.Q337H	p.Q337H	NM_021870	NP_068656	P02679	FIBG_HUMAN			7	1152	-	all_hematologic(180;0.215)	Renal(120;0.0458)	337			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.1011G>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	9.921	1.212172	0.22289	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31	5.79	3.08	0.35506	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.110120	0.64402	N	0.000004	D	0.95570	0.8560	M	0.82517	2.595	0.58432	D	0.999991	B;B;B;B;B	0.26577	0.148;0.132;0.153;0.153;0.147	B;B;B;B;B	0.29353	0.027;0.061;0.069;0.101;0.083	D	0.91195	0.4987	10	0.15499	T	0.54	.	8.9109	0.35552	0.0:0.6416:0.2288:0.1296	.	234;345;337;345;337	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	H	337;345;337;345	ENSP00000384860:Q337H;ENSP00000384101:Q345H;ENSP00000336829:Q337H;ENSP00000384552:Q345H	ENSP00000336829:Q337H	Q	-	3	2	FGG	155747425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.611000	0.36879	0.749000	0.32854	0.650000	0.86243	CAG		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
FBXO8	26269	broad.mit.edu	37	4	175160248	175160248	+	Silent	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:175160248G>C	ENST00000393674.2	-	5	1531	c.669C>G	c.(667-669)gcC>gcG	p.A223A	FBXO8_ENST00000503293.1_Silent_p.A182A	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	223	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398																																						uc003itp.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(667-669)gcC>gcG		Homo sapiens F-box protein 8 (FBXO8), mRNA.							79.0	81.0	80.0					4																	175160248		2203	4299	6502	SO:0001819	synonymous_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160248G>C	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.669C>G	4.37:g.175160248G>C						FBXO8_uc003itq.3_Silent_p.A182A	p.A223A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	4	1519	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	223			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.669C>G	CCDS3820.1																																																																																				0.398	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	
PLEKHG4B	153478	broad.mit.edu	37	5	161999	161999	+	Missense_Mutation	SNP	G	G	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:161999G>T	ENST00000283426.6	+	10	1571	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	507							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGTCAGCCAGGCTGAGTGCA	0.627																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1519-1521)caG>caT		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							84.0	73.0	77.0					5																	161999		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161999G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1521G>T	5.37:g.161999G>T	ENSP00000283426:p.Gln507His						p.Q507H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	9	1571	+			507						Missense_Mutation	SNP	ENST00000283426.6	37	c.1521G>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303005	0.23736	.	.	ENSG00000153404	ENST00000283426	D	0.92965	-3.14	2.59	0.58	0.17402	.	.	.	.	.	D	0.83156	0.5193	N	0.22421	0.69	0.09310	N	0.999993	B	0.13145	0.007	B	0.06405	0.002	T	0.69702	-0.5074	9	0.35671	T	0.21	.	5.5008	0.16827	0.3345:0.0:0.6655:0.0	.	507	Q96PX9	PKH4B_HUMAN	H	507	ENSP00000283426:Q507H	ENSP00000283426:Q507H	Q	+	3	2	PLEKHG4B	214999	0.389000	0.25205	0.004000	0.12327	0.140000	0.21249	0.388000	0.20735	0.223000	0.20920	0.460000	0.39030	CAG		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:45262526C>T	ENST00000303230.4	-	8	2227	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	724					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14291	0.0		0.0	False		,,,				2504	0.0					uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2170-2172)Gcc>Acc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.		C	THR/ALA	6,4400	9.9+/-24.2	0,6,2197	31.0	32.0	32.0		2170	4.7	0.0	5	dbSNP_134	32	0,8600		0,0,4300	yes	missense	HCN1	NM_021072.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging	724/891	45262526	6,13000	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262526C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2170G>A	5.37:g.45262526C>T	ENSP00000307342:p.Ala724Thr						p.A724T	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2195	-			724						Missense_Mutation	SNP	ENST00000303230.4	37	c.2170G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976322	0.53720	0.001362	0.0	ENSG00000164588	ENST00000303230	T	0.76578	-1.03	5.52	4.65	0.58169	.	0.000000	0.64402	D	0.000007	T	0.72661	0.3488	L	0.50333	1.59	0.47245	D	0.999362	B	0.13594	0.008	B	0.06405	0.002	T	0.68618	-0.5361	10	0.44086	T	0.13	.	14.4319	0.67257	0.0:0.9293:0.0:0.0707	.	724	O60741	HCN1_HUMAN	T	724	ENSP00000307342:A724T	ENSP00000307342:A724T	A	-	1	0	HCN1	45298283	0.995000	0.38212	0.040000	0.18447	0.974000	0.67602	3.307000	0.51888	1.332000	0.45431	0.655000	0.94253	GCC		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PCDHA7	56141	broad.mit.edu	37	5	140214002	140214002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140214002C>T	ENST00000525929.1	+	1	34	c.34C>T	c.(34-36)Cga>Tga	p.R12*	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.R12*|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	12					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGGGGCCGACATCTACT	0.468																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(34-36)Cga>Tga		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							59.0	72.0	68.0					5																	140214002		2203	4300	6503	SO:0001587	stop_gained	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140214002C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.34C>T	5.37:g.140214002C>T	ENSP00000436426:p.Arg12*					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.R12*	p.R12*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	34	+			0					O75282	Nonsense_Mutation	SNP	ENST00000525929.1	37	c.34C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324749	0.41197	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	.	.	.	3.68	-0.773	0.10995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2406	0.54540	0.7427:0.2573:0.0:0.0	.	.	.	.	X	12	.	ENSP00000367365:R12X	R	+	1	2	PCDHA7	140194186	0.002000	0.14202	0.000000	0.03702	0.096000	0.18686	-0.724000	0.04947	-0.315000	0.08703	0.455000	0.32223	CGA		0.468	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHGB3	56102	broad.mit.edu	37	5	140751755	140751755	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140751755G>A	ENST00000576222.1	+	1	1925	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACTCGGGATACAACG	0.672																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1792-1794)tcG>tcA		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							60.0	69.0	66.0					5																	140751755		2203	4300	6503	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751755G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1794G>A	5.37:g.140751755G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S598S|PCDHGC5_uc011dau.2_5'Flank	p.S598S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1794	+			599			Cadherin 6.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1794G>A	CCDS58980.1																																																																																				0.672	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
DRD1	1812	broad.mit.edu	37	5	174869045	174869045	+	Missense_Mutation	SNP	G	G	A	rs144813919	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:174869045G>A	ENST00000393752.2	-	2	2050	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	353					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATTATTCGTCGCAGGGCAAAG	0.478													G|||	3	0.000599042	0.0	0.0	5008	,	,		21472	0.0		0.001	False		,,,				2504	0.002					uc003mcz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1057-1059)gCg>gTg		Homo sapiens dopamine receptor D1 (DRD1), mRNA.	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	G	VAL/ALA	0,4406		0,0,2203	114.0	111.0	112.0		1058	3.6	0.0	5	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DRD1	NM_000794.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	353/447	174869045	2,13004	2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869045G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1058C>T	5.37:g.174869045G>A	ENSP00000377353:p.Ala353Val					DRD1_uc021yia.1_Missense_Mutation_p.A353V	p.A353V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2003	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	353					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.1058C>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	1.497	-0.553137	0.03996	0.0	2.33E-4	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.36878	1.23	5.41	3.61	0.41365	.	0.591848	0.16475	N	0.212805	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.21930	-1.0231	10	0.12430	T	0.62	.	8.6375	0.33957	0.2371:0.0:0.7629:0.0	.	353	P21728	DRD1_HUMAN	V	353	ENSP00000377353:A353V	ENSP00000327652:A353V	A	-	2	0	DRD1	174801651	0.022000	0.18835	0.003000	0.11579	0.161000	0.22273	2.193000	0.42658	1.429000	0.47314	-0.254000	0.11334	GCG		0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794	
NKAPL	222698	broad.mit.edu	37	6	28227813	28227813	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:28227813A>G	ENST00000343684.3	+	1	716	c.664A>G	c.(664-666)Aga>Gga	p.R222G	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	222	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGATAAAAAGAGAGTTAAAGC	0.313																																						uc003nkt.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(664-666)Aga>Gga		Homo sapiens NFKB activating protein-like (NKAPL), mRNA.							26.0	31.0	29.0					6																	28227813		2180	4294	6474	SO:0001583	missense	222698							g.chr6:28227813A>G	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.664A>G	6.37:g.28227813A>G	ENSP00000345716:p.Arg222Gly					ZKSCAN4_uc011dlb.1_5'Flank	p.R222G	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			0	716	+			222			Lys-rich.		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.664A>G	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	A	6.844	0.524977	0.13066	.	.	ENSG00000189134	ENST00000343684	T	0.14144	2.53	4.21	4.21	0.49690	.	0.654924	0.15583	N	0.254796	T	0.05547	0.0146	L	0.47716	1.5	0.24190	N	0.995552	P	0.44877	0.845	B	0.41860	0.368	T	0.25779	-1.0122	10	0.22109	T	0.4	-10.6372	9.9811	0.41813	1.0:0.0:0.0:0.0	.	222	Q5M9Q1	NKAPL_HUMAN	G	222	ENSP00000345716:R222G	ENSP00000345716:R222G	R	+	1	2	NKAPL	28335792	0.990000	0.36364	0.986000	0.45419	0.573000	0.36030	2.733000	0.47360	2.129000	0.65627	0.533000	0.62120	AGA		0.313	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
PPP1R10	5514	broad.mit.edu	37	6	30573989	30573989	+	Silent	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:30573989A>G	ENST00000376511.2	-	9	1218	c.666T>C	c.(664-666)ccT>ccC	p.P222P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	222	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTTCTTCACAGGCACCAAGG	0.527																																						uc003nqn.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(664-666)ccT>ccC		Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.							115.0	101.0	106.0					6																	30573989		1511	2709	4220	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30573989A>G	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.666T>C	6.37:g.30573989A>G						PPP1R10_uc010jsc.1_5'UTR	p.P222P	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			8	1218	-			222			Interaction with TOX4 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.666T>C	CCDS4681.1																																																																																				0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
COL11A2	1302	broad.mit.edu	37	6	33141808	33141808	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:33141808G>A	ENST00000374708.4	-	31	2509	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	COL11A2_ENST00000395197.1_Missense_Mutation_p.R777W|COL11A2_ENST00000374712.1_Missense_Mutation_p.R756W|COL11A2_ENST00000341947.2_Missense_Mutation_p.R837W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R730W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R811W|COL11A2_ENST00000357486.1_Missense_Mutation_p.R816W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.R790W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	837	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTTCTCCCCGAGGCCCTGAC	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0		p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2509-2511)Cgg>Tgg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							55.0	56.0	56.0					6																	33141808		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141808G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2251C>T	6.37:g.33141808G>A	ENSP00000363840:p.Arg751Trp					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	p.R837W	NM_080680	NP_542411	P13942	COBA2_HUMAN			32	2737	-			837			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2509C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055860	0.76074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.87269	2.87	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.965;0.944;0.985	T	0.72880	-0.4158	10	0.87932	D	0	.	9.7741	0.40607	0.0:0.0:0.7944:0.2056	.	730;751;837	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	751;837;816;811;790;777;756;730	ENSP00000363840:R751W;ENSP00000339915:R837W;ENSP00000350079:R816W;ENSP00000363846:R811W;ENSP00000363845:R790W;ENSP00000378623:R777W;ENSP00000363844:R756W;ENSP00000355123:R730W	ENSP00000339915:R837W	R	-	1	2	COL11A2	33249786	0.990000	0.36364	1.000000	0.80357	0.964000	0.63967	1.278000	0.33179	2.306000	0.77630	0.448000	0.29417	CGG		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
NOX3	50508	broad.mit.edu	37	6	155743956	155743957	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:155743956_155743957TC>AA	ENST00000159060.2	-	10	1281_1282	c.1179_1180GA>TT	c.(1177-1182)ctGAca>ctTTca	p.T394S		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	394	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATACATCTGTCAGGGCAGTTC	0.52																																						uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1177-1182)ctgaca>ctTTca		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.																																				SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743956_155743957TC>AA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1179_1180delinsAA	6.37:g.155743956_155743957delinsAA	ENSP00000159060:p.Thr394Ser						p.T394S	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1282_1283	-		Breast(66;0.0183)	394			FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	DNP	ENST00000159060.2	37	c.1179_1180GA>TT	CCDS5250.1																																																																																				0.520	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T	rs200450439		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:94827740C>T	ENST00000433881.1	+	6	2366	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R612C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)																												uc003unp.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1834-1836)Cgc>Tgc		Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	135.0	136.0	136.0		1834,1834,1834,1834,1834	4.7	1.0	7		136	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/1375,612/1297,612/1254,612/1091,612/1099	94827740	2,13004	2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94827740C>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1834C>T	7.37:g.94827740C>T	ENSP00000398870:p.Arg612Cys	HNSCC(28;0.073)				PPP1R9A_uc010lfj.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.2_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.2_Missense_Mutation_p.R612C	p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	2116	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		612			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1834C>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812555	0.50527	0.0	2.33E-4	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15952	2.38;2.41;2.42;2.41;2.42;2.42	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.20530	0.585	0.80722	D	1	B;P;P;D;B	0.89917	0.253;0.744;0.744;1.0;0.362	B;B;B;D;B	0.73708	0.049;0.161;0.106;0.981;0.06	T	0.11717	-1.0576	10	0.59425	D	0.04	.	16.4256	0.83813	0.1322:0.8678:0.0:0.0	.	612;612;612;612;612	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	C	612	ENSP00000405514:R612C;ENSP00000344524:R612C;ENSP00000411342:R612C;ENSP00000398870:R612C;ENSP00000289495:R612C;ENSP00000402893:R612C	ENSP00000289495:R612C	R	+	1	0	PPP1R9A	94665676	0.994000	0.37717	1.000000	0.80357	0.143000	0.21401	1.406000	0.34646	1.491000	0.48482	0.591000	0.81541	CGC		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
EPHB6	2051	broad.mit.edu	37	7	142561895	142561895	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:142561895G>A	ENST00000392957.2	+	7	1124	c.337G>A	c.(337-339)Gca>Aca	p.A113T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A113T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	113	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)					CTCTGTGCGGGCATGCTCCAG	0.657																																						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.(337-339)Gca>Aca		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							70.0	80.0	76.0					7																	142561895		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561895G>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.337G>A	7.37:g.142561895G>A	ENSP00000376684:p.Ala113Thr					EPHB6_uc011ksu.2_Missense_Mutation_p.A113T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	p.A113T	NM_004445	NP_004436	O15197	EPHB6_HUMAN			6	1124	+	Melanoma(164;0.059)		113					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.337G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142638	0.77888	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03663	3.85;3.85	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.44902	D	0.000409	T	0.14313	0.0346	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.00069	-1.2136	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	113	O15197	EPHB6_HUMAN	T	113	ENSP00000376684:A113T;ENSP00000410789:A113T	ENSP00000376684:A113T	A	+	1	0	EPHB6	142272017	1.000000	0.71417	0.946000	0.38457	0.141000	0.21300	8.004000	0.88535	2.640000	0.89533	0.655000	0.94253	GCA		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
IDO1	3620	broad.mit.edu	37	8	39781104	39781104	+	Splice_Site	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr8:39781104C>T	ENST00000518237.1	+	7	1293	c.654C>T	c.(652-654)caC>caT	p.H218H	IDO1_ENST00000522495.1_Splice_Site_p.H218H|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	218					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ACCAAATCCACGGCAAGTGTT	0.433																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.e7+1		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)						69.0	70.0	69.0					8																	39781104		1912	4145	6057	SO:0001630	splice_region_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39781104C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.655+1C>T	8.37:g.39781104C>T							p.D219_splice	NM_002164	NP_002155	P14902	I23O1_HUMAN			7	769	+			219					Q540B4	Silent	SNP	ENST00000518237.1	37	c.655_splice	CCDS47847.1																																																																																				0.433	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	Silent
TAF1L	138474	broad.mit.edu	37	9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:32632187T>C	ENST00000242310.4	-	1	3480	c.3391A>G	c.(3391-3393)Aaa>Gaa	p.K1131E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1131					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3391-3393)Aaa>Gaa		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							210.0	168.0	182.0					9																	32632187		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632187T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3391A>G	9.37:g.32632187T>C	ENSP00000418379:p.Lys1131Glu					AX747113_uc003zrh.1_5'Flank	p.K1131E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3481	-			1131					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3391A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808921	0.70797	.	.	ENSG00000122728	ENST00000242310	T	0.18174	2.23	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.48218	1.51	0.54753	D	0.999983	D	0.59357	0.985	P	0.54431	0.752	T	0.02596	-1.1136	10	0.72032	D	0.01	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1131	Q8IZX4	TAF1L_HUMAN	E	1131	ENSP00000418379:K1131E	ENSP00000418379:K1131E	K	-	1	0	TAF1L	32622187	1.000000	0.71417	0.985000	0.45067	0.667000	0.39255	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	AAA		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
GPR107	57720	broad.mit.edu	37	9	132842036	132842036	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:132842036C>G	ENST00000372406.1	+	5	1021	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	GPR107_ENST00000347136.6_Missense_Mutation_p.Q172E|GPR107_ENST00000372410.3_Missense_Mutation_p.Q172E	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	172						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433																																						uc004bze.2																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(514-516)Cag>Gag		Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.							50.0	45.0	46.0					9																	132842036		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132842036C>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.514C>G	9.37:g.132842036C>G	ENSP00000361483:p.Gln172Glu					GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			4	741	+		Ovarian(14;0.000531)	172					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.514C>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095171	0.08681	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	D;D;D	0.96265	-3.96;-3.96;-3.96	5.12	3.21	0.36854	.	1.158040	0.06168	N	0.677165	D	0.91246	0.7241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.75531	-0.3285	10	0.02654	T	1	-1.7038	12.0613	0.53564	0.0:0.6236:0.3763:0.0	.	172;172;172	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	E	172	ENSP00000361483:Q172E;ENSP00000336988:Q172E;ENSP00000361487:Q172E	ENSP00000336988:Q172E	Q	+	1	0	GPR107	131881857	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.844000	0.27654	0.594000	0.29761	0.563000	0.77884	CAG		0.433	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		
KLHL34	257240	broad.mit.edu	37	X	21675508	21675508	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:21675508G>A	ENST00000379499.2	-	1	940	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	133	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTTGGCGGCGAAGCAGCAGT	0.697																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(397-399)ttC>ttT		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							9.0	9.0	9.0					X																	21675508		2169	4220	6389	SO:0001819	synonymous_variant	257240							g.chrX:21675508G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.399C>T	X.37:g.21675508G>A							p.F133F	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	941	-			133			BACK.			Silent	SNP	ENST00000379499.2	37	c.399C>T	CCDS14199.1																																																																																				0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
GPR34	2857	broad.mit.edu	37	X	41555067	41555067	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:41555067T>C	ENST00000378142.4	+	3	465	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.Y61H|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCACATCCTACTCTGTTAT	0.398																																						uc022bvc.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(181-183)Tac>Cac		Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.							127.0	98.0	107.0					X																	41555067		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555067T>C	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.181T>C	X.37:g.41555067T>C	ENSP00000367384:p.Tyr61His					CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.Y61H|GPR34_uc004dfq.4_Missense_Mutation_p.Y61H|GPR34_uc010nhg.3_Missense_Mutation_p.Y61H|GPR34_uc004dfr.4_Missense_Mutation_p.Y61H	p.Y61H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN			0	181	+			61					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.181T>C	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719422	0.48728	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.42131	0.98;0.98	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.71581	2.175	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.68409	-0.5416	10	0.87932	D	0	-15.1943	15.3733	0.74584	0.0:0.0:0.0:1.0	.	61	Q9UPC5	GPR34_HUMAN	H	61;61;14	ENSP00000367384:Y61H;ENSP00000367378:Y61H	ENSP00000367378:Y61H	Y	+	1	0	GPR34	41440011	1.000000	0.71417	0.877000	0.34402	0.579000	0.36224	6.199000	0.72112	2.014000	0.59158	0.481000	0.45027	TAC		0.398	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
MAGEC3	139081	broad.mit.edu	37	X	140967026	140967026	+	Silent	SNP	G	G	A	rs182076629		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:140967026G>A	ENST00000298296.1	+	3	324	c.324G>A	c.(322-324)ccG>ccA	p.P108P	MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	108										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCAGCCGGAGGGGAAGT	0.562													g|||	1	0.000264901	0.0008	0.0	3775	,	,		11751	0.0		0.0	False		,,,				2504	0.0					uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(322-324)ccG>ccA		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.		A		1,3834		0,1,1631,571	30.0	27.0	28.0		324	-3.7	0.0	X		28	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC3	NM_138702.1		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		108/644	140967026	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140967026G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.324G>A	X.37:g.140967026G>A							p.P108P	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	324	+	Acute lymphoblastic leukemia(192;6.56e-05)		108					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.324G>A	CCDS14676.1																																																																																				0.562	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
ZNF275	10838	broad.mit.edu	37	X	152612297	152612297	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:152612297C>T	ENST00000421401.3	+	4	331	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	ZNF275_ENST00000370251.3_Missense_Mutation_p.H52Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.H82Y|ZNF275_ENST00000370249.2_5'UTR			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	52					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552																																						uc011myn.2																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16								Homo sapiens zinc finger protein 275 (ZNF275), mRNA.							42.0	43.0	43.0					X																	152612297		2009	4163	6172	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612297C>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.154C>T	X.37:g.152612297C>T	ENSP00000398977:p.His52Tyr					ZNF275_uc004fhg.2_Missense_Mutation_p.H52Y|ZNF275_uc022cht.1_5'UTR|ZNF275_uc022chu.1_5'Flank		NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN			1		+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37			.	.	.	.	.	.	.	.	.	.	C	10.52	1.372892	0.24857	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091	T;T;T	0.08370	3.1;3.14;3.15	4.12	2.37	0.29283	.	0.903404	0.09134	N	0.843953	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.22601	0.025;0.04	T	0.40079	-0.9582	10	0.72032	D	0.01	-8.0881	8.0241	0.30427	0.0:0.789:0.0:0.211	.	52;52	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Y	52;52;82	ENSP00000359271:H52Y;ENSP00000398977:H52Y;ENSP00000411097:H82Y	ENSP00000359271:H52Y	H	+	1	0	ZNF275	152265491	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.051000	0.11885	0.522000	0.28464	-0.170000	0.13304	CAC		0.552	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485	
L1CAM	3897	broad.mit.edu	37	X	153128302	153128302	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:153128302C>T	ENST00000370060.1	-	29	3779	c.3590G>A	c.(3589-3591)gGg>gAg	p.G1197E	L1CAM_ENST00000538883.1_Missense_Mutation_p.G1195E|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1197E|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1199E|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1188E|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1188E|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1193E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1197					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGTCCCCGTTGAGCGA	0.607																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3589-3591)gGg>gAg		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							68.0	50.0	56.0					X																	153128302		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128302C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3590G>A	X.37:g.153128302C>T	ENSP00000359077:p.Gly1197Glu					L1CAM_uc004fjc.3_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.3_Missense_Mutation_p.G1188E	p.G1197E	NM_000425	NP_000416	P32004	L1CAM_HUMAN			27	3698	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1197					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3590G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768862	0.31320	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000078	D	0.83271	0.5218	N	0.16567	0.415	0.41823	D	0.990034	D;P;D	0.69078	0.989;0.712;0.997	P;B;D	0.72982	0.843;0.279;0.979	T	0.78234	-0.2283	10	0.02654	T	1	.	15.5329	0.75977	0.0:1.0:0.0:0.0	.	1188;1193;1197	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	E	1197;1199;1197;1195;1188;1188;93;1193	ENSP00000359077:G1197E;ENSP00000438430:G1199E;ENSP00000359074:G1197E;ENSP00000439645:G1195E;ENSP00000354712:G1188E;ENSP00000359072:G1188E;ENSP00000359075:G93E;ENSP00000355380:G1193E	ENSP00000355380:G1193E	G	-	2	0	L1CAM	152781496	0.345000	0.24835	0.489000	0.27452	0.302000	0.27658	2.942000	0.49018	2.175000	0.68902	0.529000	0.55759	GGG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
