#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
MST1L	11223	broad.mit.edu	37	1	17084066	17084066	+	RNA	SNP	G	G	A	rs201206414		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:17084066G>A	ENST00000455405.2	-	0	646							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TCGCTCTCCCGCACATGTCCT	0.602																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(1855-1857)Cgg>Tgg		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17084066G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084066G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R219W	p.R619W							13	1855	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1855C>T		.	.	.	.	.	.	.	.	.	.	.	12.75	2.032090	0.35893	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.166530	0.06656	N	0.763598	T	0.54679	0.1873	.	.	.	.	.	.	D;D	0.76494	0.999;0.998	P;D	0.65443	0.888;0.935	T	0.47911	-0.9080	6	0.66056	D	0.02	.	2.9647	0.05903	0.3885:0.0:0.6115:0.0	.	619;645	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	W	619;645	.	ENSP00000439273:R619W	R	-	1	2	MST1P9	16956653	1.000000	0.71417	0.403000	0.26384	0.000000	0.00434	0.941000	0.29005	0.502000	0.28037	0.000000	0.15137	CGG		0.602	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
SZT2	23334	broad.mit.edu	37	1	43906999	43906999	+	Missense_Mutation	SNP	C	C	T	rs150927632	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:43906999C>T	ENST00000562955.1	+	52	7288	c.7288C>T	c.(7288-7290)Cct>Tct	p.P2430S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1588S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2487					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGTTCGGACTCCTGGTGGAGC	0.582																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4762-4764)Cct>Tct		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							70.0	75.0	73.0					1																	43906999		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906999C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7288C>T	1.37:g.43906999C>T	ENSP00000457168:p.Pro2430Ser						p.P1588S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			51	7372	+			2487					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4762C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755940	0.49362	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	4.44	0.53790	.	0.243292	0.42548	D	0.000695	T	0.27063	0.0663	N	0.14661	0.345	0.22017	N	0.99941	B	0.20988	0.05	B	0.17722	0.019	T	0.11690	-1.0577	9	0.32370	T	0.25	.	14.6799	0.69009	0.0:0.7856:0.2144:0.0	.	2430	Q5T011-5	.	S	1588	.	ENSP00000361519:P1588S	P	+	1	0	SZT2	43679586	0.725000	0.28048	0.983000	0.44433	0.922000	0.55478	1.149000	0.31626	2.708000	0.92522	0.591000	0.81541	CCT		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
CYP4A11	1579	broad.mit.edu	37	1	47400170	47400170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:47400170C>G	ENST00000310638.4	-	7	883	c.852G>C	c.(850-852)aaG>aaC	p.K284N	CYP4A11_ENST00000457840.2_Missense_Mutation_p.E129Q|CYP4A11_ENST00000462347.1_Missense_Mutation_p.E233Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K285N|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.K284N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	284					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCTCTTCCTCTTGATCTTCT	0.498																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(850-852)aaG>aaC		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						136.0	129.0	131.0					1																	47400170		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47400170C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.852G>C	1.37:g.47400170C>G	ENSP00000311095:p.Lys284Asn					CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_Non-coding_Transcript	p.K284N	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			6	903	-			284					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.852G>C	CCDS543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	5.999|5.999	0.368193|0.368193	0.11352|0.11352	.|.	.|.	ENSG00000187048|ENSG00000187048	ENST00000457840|ENST00000310638;ENST00000371904;ENST00000371905	T|T;T;T	0.28255|0.68331	1.62|-0.32;-0.32;-0.32	5.23|5.23	2.29|2.29	0.28610|0.28610	.|.	.|0.468479	.|0.22978	.|N	.|0.053358	T|T	0.49167|0.49167	0.1541|0.1541	N|N	0.12422|0.12422	0.21|0.21	0.09310|0.09310	N|N	1|1	.|B	.|0.27951	.|0.195	.|B	.|0.35182	.|0.197	T|T	0.49753|0.49753	-0.8906|-0.8906	7|10	0.27785|0.66056	T|D	0.31|0.02	.|.	9.1526|9.1526	0.36973|0.36973	0.0:0.7036:0.0:0.2964|0.0:0.7036:0.0:0.2964	.|.	.|284	.|Q02928	.|CP4AB_HUMAN	Q|N	129|284;285;284	ENSP00000406272:E129Q|ENSP00000311095:K284N;ENSP00000360971:K285N;ENSP00000360972:K284N	ENSP00000406272:E129Q|ENSP00000311095:K284N	E|K	-|-	1|3	0|2	CYP4A11|CYP4A11	47172757|47172757	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.003000|0.003000	0.03518|0.03518	-0.316000|-0.316000	0.08071|0.08071	0.695000|0.695000	0.31675|0.31675	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.498	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
MROH7	374977	broad.mit.edu	37	1	55136211	55136211	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:55136211C>T	ENST00000421030.2	+	6	1716	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MROH7_ENST00000395690.2_Silent_p.S477S|MROH7-TTC4_ENST00000414150.2_Silent_p.S477S|MROH7_ENST00000339553.5_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7_ENST00000409996.1_Silent_p.S45S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	477						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTCAAGCTCCGTCCGCAAGC	0.637																																						uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1429-1431)tcC>tcT		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.							40.0	46.0	44.0					1																	55136211		2049	4173	6222	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55136211C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1431C>T	1.37:g.55136211C>T						HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S45S|HEATR8_uc010ood.1_5'UTR|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.S477S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript	p.S477S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			5	1755	+			477					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1431C>T	CCDS41342.2																																																																																				0.637	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
CSDE1	7812	broad.mit.edu	37	1	115269683	115269683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:115269683T>C	ENST00000358528.4	-	13	1811	c.1385A>G	c.(1384-1386)gAt>gGt	p.D462G	Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Missense_Mutation_p.D332G|CSDE1_ENST00000339438.6_Missense_Mutation_p.D431G|CSDE1_ENST00000261443.5_Missense_Mutation_p.D431G|CSDE1_ENST00000534699.1_Missense_Mutation_p.D462G|CSDE1_ENST00000369530.1_Missense_Mutation_p.D477G|CSDE1_ENST00000438362.2_Missense_Mutation_p.D508G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	462	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACAGTCATCATAAGCAAT	0.373																																						uc001efi.3																			0		p.R508*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1522-1524)gAt>gGt		Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.							144.0	125.0	131.0					1																	115269683		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115269683T>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1385A>G	1.37:g.115269683T>C	ENSP00000351329:p.Asp462Gly					CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.D462G|CSDE1_uc001efm.3_Missense_Mutation_p.D477G|CSDE1_uc009wgv.3_Missense_Mutation_p.D462G|CSDE1_uc001efl.3_Missense_Mutation_p.D431G|CSDE1_uc001efn.3_Missense_Mutation_p.D431G	p.D508G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2045	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	462					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1523A>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395395	0.62066	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.75	5.75	0.90469	.	0.104733	0.64402	D	0.000003	T	0.58366	0.2117	L	0.38531	1.155	0.80722	D	1	P;B;D	0.67145	0.732;0.155;0.996	B;B;D	0.76071	0.286;0.029;0.987	T	0.57189	-0.7854	9	0.30854	T	0.27	-18.698	16.0487	0.80740	0.0:0.0:0.0:1.0	.	477;462;508	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	G	431;508;462;431;332;477;462	.	ENSP00000261443:D431G	D	-	2	0	CSDE1	115071206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.189000	0.69895	0.533000	0.62120	GAT		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
TCHH	7062	broad.mit.edu	37	1	152084091	152084091	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:152084091G>A	ENST00000368804.1	-	2	1601	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	534	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTTGCTCGCTCCTCAACC	0.652																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1600-1602)agC>agT		Homo sapiens trichohyalin (TCHH), mRNA.							80.0	88.0	85.0					1																	152084091		2046	4183	6229	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084091G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1602C>T	1.37:g.152084091G>A						TCHH_uc001ezp.2_Silent_p.S534S	p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1874	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		534			9 X 28 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1602C>T	CCDS41396.1																																																																																				0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
OR10Z1	128368	broad.mit.edu	37	1	158577031	158577032	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:158577031_158577032delTT	ENST00000361284.1	+	1	803_804	c.803_804delTT	c.(802-804)cttfs	p.L268fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	268						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTACTCTCTTGAGAGAGATC	0.47																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(802-804)cttfs		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.				0,4258		0,0,2129						4.1	0.8			230	5,8245		0,5,4120	no	frameshift	OR10Z1	NM_001004478.1		0,5,6249	A1A1,A1R,RR		0.0606,0.0,0.04				5,12503				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577031_158577032delTT	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.803_804delTT	1.37:g.158577031_158577032delTT	ENSP00000354707:p.Leu268fs						p.L268fs	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			0	803_804	+	all_hematologic(112;0.0378)		268					Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.803_804delTT	CCDS30901.1																																																																																				0.470	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
LGR6	59352	broad.mit.edu	37	1	202287327	202287327	+	Silent	SNP	C	C	T	rs540125583		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:202287327C>T	ENST00000367278.3	+	18	1985	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	LGR6_ENST00000439764.2_Silent_p.Y493Y|LGR6_ENST00000255432.7_Silent_p.Y580Y	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	632					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTGAGTACGGAGCCCGCT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17837	0.0		0.0	False		,,,				2504	0.0					uc001gxu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1894-1896)taC>taT		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.							34.0	29.0	31.0					1																	202287327		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287327C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1896C>T	1.37:g.202287327C>T						LGR6_uc001gxv.3_Silent_p.Y580Y|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Y493Y	p.Y632Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			17	1896	+			632					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1896C>T	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
OR1C1	26188	broad.mit.edu	37	1	247921487	247921487	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:247921487C>T	ENST00000408896.2	-	1	495	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTAGTCGACGTAAAGCAGA	0.463																																						uc010pza.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(220-222)acG>acA		Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.							73.0	69.0	70.0					1																	247921487		2055	4225	6280	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921487C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.222G>A	1.37:g.247921487C>T							p.T74T	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	222	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	74					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.222G>A	CCDS41481.1																																																																																				0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1		
C10orf2	56652	broad.mit.edu	37	10	102749558	102749558	+	Silent	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr10:102749558A>G	ENST00000311916.2	+	2	1586	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Silent_p.Q467Q|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	467	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAAGATCAACTGGACAAAT	0.542																																						uc001ksf.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1399-1401)caA>caG		Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.							133.0	128.0	130.0					10																	102749558		2203	4300	6503	SO:0001819	synonymous_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749558A>G	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1401A>G	10.37:g.102749558A>G						MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc021pxb.1_Non-coding_Transcript	p.Q467Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	2076	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	467			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	c.1401A>G	CCDS7506.1																																																																																				0.542	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	
OR56A4	120793	broad.mit.edu	37	11	6024337	6024337	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:6024337C>T	ENST00000330728.4	-	1	87	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGAGGCCCTGTATCTGTC	0.368																																						uc010qzv.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(40-42)caG>caA		Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.							108.0	121.0	117.0					11																	6024337		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024337C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.42G>A	11.37:g.6024337C>T							p.Q14Q	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	42	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	0					B9EH17	Silent	SNP	ENST00000330728.4	37	c.42G>A	CCDS31404.1																																																																																				0.368	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
OR4P4	81300	broad.mit.edu	37	11	55406071	55406071	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:55406071A>G	ENST00000314612.2	+	1	238	c.238A>G	c.(238-240)Atg>Gtg	p.M80V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CCCCAAATTAATGGTTGACTT	0.413																																						uc010rij.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(238-240)Atg>Gtg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							142.0	122.0	129.0					11																	55406071		2179	4031	6210	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406071A>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.238A>G	11.37:g.55406071A>G	ENSP00000324831:p.Met80Val						p.M80V	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	238	+			80						Missense_Mutation	SNP	ENST00000314612.2	37	c.238A>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	1.458	-0.563240	0.03939	.	.	ENSG00000181927	ENST00000314612	T	0.00361	7.85	5.18	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.955566	0.08621	N	0.918486	T	0.00178	0.0005	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38672	-0.9650	10	0.66056	D	0.02	-13.1196	5.2535	0.15534	0.4569:0.2879:0.0:0.2552	.	80	Q8NGL7	OR4P4_HUMAN	V	80	ENSP00000324831:M80V	ENSP00000324831:M80V	M	+	1	0	OR4P4	55162647	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.788000	0.04614	0.765000	0.33221	0.519000	0.50382	ATG		0.413	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
GLYATL1	92292	broad.mit.edu	37	11	58723260	58723260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:58723260G>A	ENST00000317391.4	+	8	1009	c.669G>A	c.(667-669)atG>atA	p.M223I	GLYATL1_ENST00000300079.5_Missense_Mutation_p.M254I|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	223						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.M254I(1)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522																																						uc001nnh.2																			2	Substitution - Missense(2)	p.M254I(2)|p.M223I(1)	lung(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(760-762)atG>atA		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						59.0	55.0	56.0					11																	58723260		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723260G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.669G>A	11.37:g.58723260G>A	ENSP00000322223:p.Met223Ile					GLYATL1_uc001nnf.3_Missense_Mutation_p.M223I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M223I	p.M254I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			6	812	+			223					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.762G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875194	0.51695	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16073	2.37;2.37	2.62	2.62	0.31277	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.315214	0.22438	U	0.060044	T	0.22205	0.0535	M	0.73430	2.235	0.09310	N	1	P;P	0.40534	0.673;0.72	B;B	0.42959	0.351;0.403	T	0.06373	-1.0830	10	0.41790	T	0.15	.	8.4486	0.32858	0.0:0.0:1.0:0.0	.	254;223	Q969I3-2;Q969I3	.;GLYL1_HUMAN	I	200;223;254	ENSP00000322223:M223I;ENSP00000300079:M254I	ENSP00000300079:M254I	M	+	3	0	GLYATL1	58479836	0.960000	0.32886	0.073000	0.20177	0.303000	0.27691	2.196000	0.42686	1.284000	0.44531	0.411000	0.27672	ATG		0.522	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
TRPC6	7225	broad.mit.edu	37	11	101347101	101347101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:101347101C>T	ENST00000344327.3	-	6	2099	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.D504N|TRPC6_ENST00000348423.4_Missense_Mutation_p.D443N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	559					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATTTGCGTCAATGATGCTC	0.378																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1675-1677)Gac>Aac		Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.							107.0	92.0	97.0					11																	101347101		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347101C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1675G>A	11.37:g.101347101C>T	ENSP00000340913:p.Asp559Asn					TRPC6_uc009ywy.3_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	p.D559N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	2100	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	559					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1675G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648218	0.67358	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;T;T	0.89050	-2.46;-0.98;-1.25	5.67	5.67	0.87782	Ion transport (1);	0.089733	0.85682	D	0.000000	T	0.81983	0.4938	N	0.21448	0.665	0.80722	D	1	P;P;P	0.44281	0.629;0.831;0.679	B;B;B	0.35727	0.126;0.209;0.199	T	0.81510	-0.0900	10	0.31617	T	0.26	-13.8704	20.1403	0.98057	0.0:1.0:0.0:0.0	.	504;443;559	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	N	559;443;504	ENSP00000340913:D559N;ENSP00000343672:D443N;ENSP00000353687:D504N	ENSP00000340913:D559N	D	-	1	0	TRPC6	100852311	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.977000	0.56874	2.831000	0.97527	0.643000	0.83706	GAC		0.378	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
USP28	57646	broad.mit.edu	37	11	113677209	113677209	+	Splice_Site	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:113677209A>G	ENST00000003302.4	-	19	2469		c.e19+1		USP28_ENST00000545540.1_Intron|USP28_ENST00000544967.1_Intron|USP28_ENST00000260188.5_Intron	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACAGAGATACCTTAATCAG	0.438																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e19+1		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							52.0	49.0	50.0					11																	113677209		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113677209A>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2400+1T>C	11.37:g.113677209A>G						USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	p.K800_splice	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	19	2433	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	800					B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37	c.2400_splice	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036056	0.75617	.	.	ENSG00000048028	ENST00000003302;ENST00000538224	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3344	0.74241	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113182419	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.729000	0.91490	2.204000	0.70986	0.528000	0.53228	.		0.438	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron
LRP6	4040	broad.mit.edu	37	12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:12311913C>T	ENST00000261349.4	-	12	2717	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	LRP6_ENST00000543091.1_Missense_Mutation_p.V881I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	881	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V881L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAGTGAAAGACGAGGATGTCC	0.537																																						uc001rah.4																			1	Substitution - Missense(1)	p.V881L(2)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2641-2643)Gtc>Atc		Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.							226.0	159.0	181.0					12																	12311913		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12311913C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2641G>A	12.37:g.12311913C>T	ENSP00000261349:p.Val881Ile					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	p.V881I	NM_002336	NP_002327	O75581	LRP6_HUMAN			11	2783	-		Prostate(47;0.0865)	881			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2641G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106476	0.94292	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.53938	D	0.000042	D	0.92941	0.7754	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.76575	0.973;0.988	D	0.88959	0.3392	10	0.15499	T	0.54	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	881;881	F5H7J9;O75581	.;LRP6_HUMAN	I	881	ENSP00000261349:V881I;ENSP00000442472:V881I	ENSP00000261349:V881I	V	-	1	0	LRP6	12203180	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GTC		0.537	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
OVCH1	341350	broad.mit.edu	37	12	29628100	29628100	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:29628100G>A	ENST00000318184.5	-	14	1493	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	498	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAAGTGATGGTCAACATTC	0.299																																						uc001rix.1																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1492-1494)acC>acT		Homo sapiens ovochymase 1 (OVCH1), mRNA.							37.0	33.0	34.0					12																	29628100		1808	4076	5884	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29628100G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1494C>T	12.37:g.29628100G>A							p.T498T	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			13	1494	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		498			CUB 2.			Silent	SNP	ENST00000318184.5	37	c.1494C>T																																																																																					0.299	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
LRP1	4035	broad.mit.edu	37	12	57600507	57600507	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:57600507G>T	ENST00000243077.3	+	76	12308	c.11842G>T	c.(11842-11844)Ggt>Tgt	p.G3948C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3948					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGACCGGGGTGTCACCCA	0.607																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11842-11844)Ggt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						62.0	52.0	55.0					12																	57600507		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57600507G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11842G>T	12.37:g.57600507G>T	ENSP00000243077:p.Gly3948Cys						p.G3948C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	12308	+			3948					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11842G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411988	0.42817	.	.	ENSG00000123384	ENST00000243077	D	0.93247	-3.19	5.38	4.49	0.54785	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.191791	0.39146	N	0.001449	D	0.89525	0.6740	L	0.41492	1.28	0.40744	D	0.982851	P	0.40619	0.724	B	0.37731	0.257	D	0.89979	0.4099	10	0.62326	D	0.03	.	13.095	0.59187	0.0788:0.0:0.9212:0.0	.	3948	Q07954	LRP1_HUMAN	C	3948	ENSP00000243077:G3948C	ENSP00000243077:G3948C	G	+	1	0	LRP1	55886774	0.992000	0.36948	0.882000	0.34594	0.999000	0.98932	2.322000	0.43814	1.410000	0.46936	0.655000	0.94253	GGT		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
GRIP1	23426	broad.mit.edu	37	12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T	rs367635870		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:66911726C>T	ENST00000398016.3	-	6	601	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_ENST00000286445.7_Missense_Mutation_p.R178H|GRIP1_ENST00000359742.4_Missense_Mutation_p.R178H	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAACTGGACGAGATTTATT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.0					uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(532-534)cGt>cAt		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,3715		0,1,1857	80.0	78.0	79.0		533,533	4.9	1.0	12		79	0,8204		0,0,4102	no	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	29,29	0,1,5959	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,probably-damaging	178/1062,178/1077	66911726	1,11919	1858	4102	5960	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66911726C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.533G>A	12.37:g.66911726C>T	ENSP00000381098:p.Arg178His					GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.3_Missense_Mutation_p.R178H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H	p.R178H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	5	774	-			178			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.533G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735396	0.89482	2.69E-4	0.0	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309	T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.88	4.88	0.63580	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.993	T	0.39014	-0.9634	9	.	.	.	-10.1321	18.3993	0.90510	0.0:1.0:0.0:0.0	.	178;178;178	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	H	178;178;178;49;178;122;122;151;122	ENSP00000381098:R178H;ENSP00000352780:R178H;ENSP00000286445:R178H;ENSP00000443006:R49H;ENSP00000446047:R178H;ENSP00000446024:R122H;ENSP00000446011:R122H;ENSP00000439124:R151H;ENSP00000438500:R122H	.	R	-	2	0	GRIP1	65197993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.083000	0.76859	2.431000	0.82371	0.467000	0.42956	CGT		0.388	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
METTL17	64745	broad.mit.edu	37	14	21458199	21458199	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458199G>C	ENST00000339374.6	+	1	271	c.38G>C	c.(37-39)aGa>aCa	p.R13T	METTL17_ENST00000382985.4_Missense_Mutation_p.R13T|METTL17_ENST00000556670.2_Missense_Mutation_p.R13T|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	13					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACATTAGGAAGATGGTGCCCC	0.617																																						uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(37-39)aGa>aCa		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							56.0	63.0	61.0					14																	21458199		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458199G>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.38G>C	14.37:g.21458199G>C	ENSP00000343041:p.Arg13Thr					METTL17_uc010tlk.2_Missense_Mutation_p.R13T|METTL17_uc001vym.3_Missense_Mutation_p.R13T|METTL17_uc001vyn.3_Missense_Mutation_p.R13T	p.R13T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN			0	235	+			13					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.38G>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728035	0.69074	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.39056	1.24;1.1	5.55	5.55	0.83447	.	0.229118	0.33327	N	0.005033	T	0.59756	0.2217	L	0.54323	1.7	0.24707	N	0.993224	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.991;0.996	T	0.53760	-0.8393	10	0.59425	D	0.04	.	14.8648	0.70406	0.0:0.0:1.0:0.0	.	13;13;13;13	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;.;MET17_HUMAN;.	T	13	ENSP00000343041:R13T;ENSP00000372445:R13T	ENSP00000343041:R13T	R	+	2	0	METTL17	20528039	0.086000	0.21541	0.694000	0.30210	0.032000	0.12392	1.807000	0.38902	2.882000	0.98803	0.655000	0.94253	AGA		0.617	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734	
METTL17	64745	broad.mit.edu	37	14	21458453	21458453	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458453G>C	ENST00000339374.6	+	2	373	c.140G>C	c.(139-141)aGg>aCg	p.R47T	METTL17_ENST00000382985.4_Missense_Mutation_p.R47T|METTL17_ENST00000556670.2_Missense_Mutation_p.R47T|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	47					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGCAGAAGAGGCCTCATCGC	0.587											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(139-141)aGg>aCg		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							80.0	92.0	88.0					14																	21458453		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458453G>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.140G>C	14.37:g.21458453G>C	ENSP00000343041:p.Arg47Thr		OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	748	METTL17_uc010tlk.2_Missense_Mutation_p.R47T|METTL17_uc001vym.3_Missense_Mutation_p.R47T|METTL17_uc001vyn.3_Missense_Mutation_p.R47T	p.R47T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN			1	337	+			47					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.140G>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340923	0.24339	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000536700;ENST00000554283	T;T	0.30714	1.55;1.52	6.07	-3.8	0.04307	.	0.723770	0.13760	N	0.364658	T	0.09512	0.0234	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.22003	0.063;0.005;0.0;0.0	B;B;B;B	0.18561	0.022;0.004;0.0;0.001	T	0.34976	-0.9807	10	0.15066	T	0.55	.	6.4081	0.21676	0.591:0.0:0.1955:0.2135	.	47;47;47;47	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;.;MET17_HUMAN;.	T	47;47;85;85	ENSP00000343041:R47T;ENSP00000372445:R47T	ENSP00000343041:R47T	R	+	2	0	METTL17	20528293	0.091000	0.21658	0.964000	0.40570	0.064000	0.16182	-0.426000	0.07008	-0.462000	0.06984	-0.182000	0.12963	AGG		0.587	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734	
GNG2	54331	broad.mit.edu	37	14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	rs139067662		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:52433353C>T	ENST00000335281.4	+	3	570	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_ENST00000555472.1_Missense_Mutation_p.P55L|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556752.1_Missense_Mutation_p.P55L|GNG2_ENST00000553432.1_Missense_Mutation_p.P86L|GNG2_ENST00000556766.1_Missense_Mutation_p.P55L|RP11-463J10.3_ENST00000553603.1_RNA|GNG2_ENST00000557376.1_Missense_Mutation_p.P94L|GNG2_ENST00000554736.1_Missense_Mutation_p.P55L	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	55					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)	p.P55L(2)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		17773	0.0		0.001	False		,,,				2504	0.0					uc001wzi.3																			2	Substitution - Missense(2)	p.P55L(4)	upper_aerodigestive_tract(1)|lung(1)	lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(163-165)cCg>cTg		Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	Halothane(DB01159)						96.0	103.0	101.0					14																	52433353		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433353C>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.164C>T	14.37:g.52433353C>T	ENSP00000334448:p.Pro55Leu					GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P55L|GNG2_uc001wzj.3_Missense_Mutation_p.P55L|GNG2_uc001wzk.3_Missense_Mutation_p.P55L	p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN			3	721	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		55					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.164C>T	CCDS32082.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.1	4.248650	0.80024	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.03	4.14	0.48551	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52071	-0.8624	9	0.46703	T	0.11	-6.3716	13.934	0.64015	0.0:0.9251:0.0:0.0749	.	55	P59768	GBG2_HUMAN	L	86;94;55;55;55;55;55	ENSP00000451279:P86L;ENSP00000450758:P94L;ENSP00000334448:P55L;ENSP00000451102:P55L;ENSP00000451231:P55L;ENSP00000452014:P55L;ENSP00000451576:P55L	ENSP00000334448:P55L	P	+	2	0	GNG2	51503103	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.772000	0.85439	1.422000	0.47177	0.591000	0.81541	CCG		0.527	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1		
LTBP2	4053	broad.mit.edu	37	14	74970199	74970199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:74970199G>A	ENST00000261978.4	-	32	5079	c.4693C>T	c.(4693-4695)Cgc>Tgc	p.R1565C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1521C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1565	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCATGCAGCGCTGCTGGCTG	0.672																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4693-4695)Cgc>Tgc		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							44.0	36.0	39.0					14																	74970199		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74970199G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4693C>T	14.37:g.74970199G>A	ENSP00000261978:p.Arg1565Cys						p.R1565C	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	31	5080	-			1565			EGF-like 18; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4693C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222266	0.79464	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.82255	-1.59;-1.59	4.86	3.96	0.45880	EGF-like calcium-binding (1);	0.000000	0.42053	D	0.000774	D	0.89076	0.6612	M	0.72353	2.195	0.46521	D	0.999087	D	0.89917	1.0	D	0.71870	0.975	D	0.89494	0.3759	10	0.62326	D	0.03	.	12.2373	0.54522	0.0:0.0:0.6913:0.3087	.	1565	Q14767	LTBP2_HUMAN	C	1565;1521	ENSP00000261978:R1565C;ENSP00000451477:R1521C	ENSP00000261978:R1565C	R	-	1	0	LTBP2	74039952	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.193000	0.58385	1.246000	0.43901	0.561000	0.74099	CGC		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
PSMC1	5700	broad.mit.edu	37	14	90736610	90736610	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:90736610C>T	ENST00000261303.8	+	10	1205	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	PSMC1_ENST00000543772.2_Missense_Mutation_p.H295Y	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	368					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTTCAGATTCACACAAGCAG	0.502																																						uc001xyf.3																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(1102-1104)Cac>Tac		Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.							80.0	69.0	73.0					14																	90736610		2203	4297	6500	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90736610C>T	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.1102C>T	14.37:g.90736610C>T	ENSP00000261303:p.His368Tyr					PSMC1_uc001xyg.3_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.3_Missense_Mutation_p.H295Y	p.H368Y	NM_002802	NP_002793	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1150	+		all_cancers(154;0.142)	368					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.1102C>T	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411983	0.83340	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94758	-3.51;-3.51	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97889	1.0296	10	0.62326	D	0.03	-15.1208	14.2789	0.66199	0.0:0.9281:0.0:0.0719	.	368	P62191	PRS4_HUMAN	Y	368;295	ENSP00000261303:H368Y;ENSP00000445147:H295Y	ENSP00000261303:H368Y	H	+	1	0	PSMC1	89806363	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.487000	0.81328	1.384000	0.46424	0.563000	0.77884	CAC		0.502	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802	
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:95080911G>A	ENST00000467132.1	+	2	1281	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	45					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V45M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572																																						uc001ydp.3																			1	Substitution - Missense(1)	p.V45M(2)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(133-135)Gtg>Atg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.							121.0	118.0	119.0					14																	95080911		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080911G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.133G>A	14.37:g.95080911G>A	ENSP00000450540:p.Val45Met					SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	1	292	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	45					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.133G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404725	0.42613	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.68	-0.036	0.13890	Serpin domain (1);	1.940150	0.03623	U	0.236685	T	0.81418	0.4818	N	0.19112	0.55	0.09310	N	1	D;P	0.53885	0.963;0.661	B;B	0.43809	0.432;0.154	T	0.72527	-0.4266	10	0.72032	D	0.01	.	10.9606	0.47383	0.0825:0.5309:0.3866:0.0	.	45;70	P01011;G3V5I3	AACT_HUMAN;.	M	70;45;45;45;45;45	ENSP00000452367:V70M;ENSP00000376793:V45M;ENSP00000376795:V45M;ENSP00000450540:V45M	ENSP00000369712:V45M	V	+	1	0	SERPINA3	94150664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.456000	0.06754	0.073000	0.16731	0.561000	0.74099	GTG		0.572	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
BCL11B	64919	broad.mit.edu	37	14	99642475	99642475	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:99642475G>A	ENST00000357195.3	-	4	707	c.698C>T	c.(697-699)gCg>gTg	p.A233V	BCL11B_ENST00000443726.2_Missense_Mutation_p.A39V|BCL11B_ENST00000345514.2_Missense_Mutation_p.A162V	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	233					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGGAACCACGCGCTGTTGAA	0.617			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(697-699)gCg>gTg		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.							36.0	34.0	35.0					14																	99642475		2198	4298	6496	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642475G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.698C>T	14.37:g.99642475G>A	ENSP00000349723:p.Ala233Val					BCL11B_uc001ygb.3_Missense_Mutation_p.A162V	p.A233V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	965	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	233					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.698C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661377	0.67700	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.38077	1.16;1.69;1.33	4.68	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58509	0.2127	M	0.69523	2.12	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63314	-0.6665	10	0.66056	D	0.02	-17.5658	14.3543	0.66727	0.0:0.0:0.8504:0.1496	.	162;233	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	V	233;162;39	ENSP00000349723:A233V;ENSP00000280435:A162V;ENSP00000387419:A39V	ENSP00000280435:A162V	A	-	2	0	BCL11B	98712228	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	9.681000	0.98653	1.084000	0.41184	-0.181000	0.13052	GCG		0.617	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
HDC	3067	broad.mit.edu	37	15	50535347	50535347	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr15:50535347C>T	ENST00000267845.3	-	11	1637	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R379H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TACCTTTAGACGAAAAACCAC	0.483																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1234-1236)cGt>cAt		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						77.0	75.0	75.0					15																	50535347		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50535347C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1235G>A	15.37:g.50535347C>T	ENSP00000267845:p.Arg412His					HDC_uc001zxy.3_Missense_Mutation_p.R155H|HDC_uc010uff.2_Missense_Mutation_p.R379H	p.R412H	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	10	1577	-		all_lung(180;0.0138)	412						Missense_Mutation	SNP	ENST00000267845.3	37	c.1235G>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662445	0.88251	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.46063	0.88;0.88	5.82	4.91	0.64330	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.306737	0.41001	N	0.000965	T	0.75932	0.3917	H	0.96996	3.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84849	0.0812	10	0.87932	D	0	-11.7372	14.8218	0.70080	0.0:0.9311:0.0:0.0689	.	379;412	B7ZM01;P19113	.;DCHS_HUMAN	H	412;379	ENSP00000267845:R412H;ENSP00000440252:R379H	ENSP00000267845:R412H	R	-	2	0	HDC	48322639	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.787000	0.69013	1.480000	0.48289	0.467000	0.42956	CGT		0.483	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
CCP110	9738	broad.mit.edu	37	16	19547973	19547973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:19547973C>T	ENST00000381396.5	+	4	1229	c.982C>T	c.(982-984)Cga>Tga	p.R328*	CCP110_ENST00000396208.2_Nonsense_Mutation_p.R328*|CCP110_ENST00000396212.2_Nonsense_Mutation_p.R328*	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	328					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATACCTATACGAACTGGCCA	0.373																																						uc002dgl.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(982-984)Cga>Tga		Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.							52.0	50.0	50.0					16																	19547973		2197	4300	6497	SO:0001587	stop_gained	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547973C>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.982C>T	16.37:g.19547973C>T	ENSP00000370803:p.Arg328*					CCP110_uc002dgk.4_Nonsense_Mutation_p.R328*	p.R328*	NM_001199022	NP_001185951	O43303	CP110_HUMAN			3	1229	+			328					B7WP23|O43335|Q68DV9|Q8NE13	Nonsense_Mutation	SNP	ENST00000381396.5	37	c.982C>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384298	0.82792	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	.	.	.	5.83	2.61	0.31194	.	1.306040	0.04977	N	0.465034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4014	10.4874	0.44731	0.2199:0.4243:0.3558:0.0	.	.	.	.	X	328	.	ENSP00000370803:R328X	R	+	1	2	CCP110	19455474	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.810000	0.27183	0.755000	0.32990	0.655000	0.94253	CGA		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711	
CACNG3	10368	broad.mit.edu	37	16	24358110	24358110	+	Silent	SNP	C	C	T	rs368528326		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:24358110C>T	ENST00000005284.3	+	2	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	89					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y89*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562																																						uc002dmf.3																			1	Substitution - Nonsense(1)	p.Y89*(2)|p.D88Y(1)	ovary(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(265-267)taC>taT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.		C		1,4393	2.1+/-5.4	0,1,2196	88.0	80.0	83.0		267	-8.5	0.5	16		83	0,8600		0,0,4300	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		89/316	24358110	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358110C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.267C>T	16.37:g.24358110C>T							p.Y89Y	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1469	+			89						Silent	SNP	ENST00000005284.3	37	c.267C>T	CCDS10620.1																																																																																				0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
OGFOD1	55239	broad.mit.edu	37	16	56510097	56510097	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:56510097T>C	ENST00000566157.1	+	13	1732	c.1609T>C	c.(1609-1611)Tca>Cca	p.S537P	OGFOD1_ENST00000568397.1_Missense_Mutation_p.S494P	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	537					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGACTTTTCATTCATCTA	0.418																																						uc002ejb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1609-1611)Tca>Cca		Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	Vitamin C(DB00126)						50.0	48.0	49.0					16																	56510097		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56510097T>C	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1609T>C	16.37:g.56510097T>C	ENSP00000457258:p.Ser537Pro					OGFOD1_uc002ejc.3_Missense_Mutation_p.S397P	p.S537P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			12	1710	+			537					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1609T>C	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	T	19.26	3.794108	0.70452	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.68	3.24	0.37175	.	0.164767	0.56097	D	0.000032	T	0.49541	0.1563	L	0.59436	1.845	0.80722	D	1	P	0.48998	0.918	P	0.44561	0.453	T	0.46317	-0.9200	9	0.59425	D	0.04	-6.518	8.9582	0.35832	0.1186:0.0:0.4661:0.4154	.	537	Q8N543	OGFD1_HUMAN	P	537;381	.	ENSP00000337196:S537P	S	+	1	0	OGFOD1	55067598	0.998000	0.40836	0.987000	0.45799	0.962000	0.63368	2.491000	0.45303	0.319000	0.23209	0.528000	0.53228	TCA		0.418	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233	
MYH2	4620	broad.mit.edu	37	17	10428349	10428349	+	Missense_Mutation	SNP	G	G	A	rs529367667	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:10428349G>A	ENST00000245503.5	-	34	5080	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1566C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1566					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATGCGCAGGATCTTT	0.408													g|||	2	0.000399361	0.0	0.0	5008	,	,		21940	0.0		0.0	False		,,,				2504	0.002					uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4696-4698)Cgc>Tgc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							90.0	91.0	91.0					17																	10428349		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428349G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4696C>T	17.37:g.10428349G>A	ENSP00000245503:p.Arg1566Cys					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1566C|MYH2_uc010coj.3_Intron	p.R1566C	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			33	4824	-			1566					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4696C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201875	0.58234	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84800	-1.9;-1.9	5.45	5.45	0.79879	Myosin tail (1);	0.181464	0.26460	U	0.024248	D	0.93455	0.7912	M	0.93678	3.445	0.58432	D	0.999999	D	0.69078	0.997	D	0.63283	0.913	D	0.94466	0.7680	10	0.87932	D	0	.	14.3218	0.66491	0.0:0.0:0.8518:0.1482	.	1566	Q9UKX2	MYH2_HUMAN	C	1566	ENSP00000245503:R1566C;ENSP00000380367:R1566C	ENSP00000245503:R1566C	R	-	1	0	MYH2	10369074	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.543000	0.53633	2.838000	0.97847	0.591000	0.81541	CGC		0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
XYLT2	64132	broad.mit.edu	37	17	48433460	48433460	+	Silent	SNP	G	G	A	rs373704915		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:48433460G>A	ENST00000017003.2	+	7	1369	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	XYLT2_ENST00000507602.1_Silent_p.T440T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	440					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTTCCACACGGTGCTGGAGA	0.617																																						uc002iqo.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1318-1320)acG>acA		Homo sapiens xylosyltransferase II (XYLT2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	65.0	63.0	63.0		1320	-4.1	1.0	17		63	0,8600		0,0,4300	no	coding-synonymous	XYLT2	NM_022167.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		440/866	48433460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48433460G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1320G>A	17.37:g.48433460G>A						XYLT2_uc010dbo.3_Non-coding_Transcript	p.T440T	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			6	1429	+	Breast(11;7.18e-19)		440					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.1320G>A	CCDS11563.1																																																																																				0.617	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167	
VEZF1	7716	broad.mit.edu	37	17	56060219	56060219	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:56060219T>C	ENST00000581208.1	-	2	609	c.569A>G	c.(568-570)aAt>aGt	p.N190S	VEZF1_ENST00000584396.1_Missense_Mutation_p.N181S	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	190					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTTGTGTCGATTGAGATGGTA	0.483																																						uc002ivf.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(568-570)aAt>aGt		Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.							86.0	73.0	77.0					17																	56060219		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060219T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.569A>G	17.37:g.56060219T>C	ENSP00000462337:p.Asn190Ser					VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	p.N190S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			1	712	-			190						Missense_Mutation	SNP	ENST00000581208.1	37	c.569A>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424126	0.43020	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	N	0.13098	0.295	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.26467	-1.0102	9	0.16420	T	0.52	-10.1481	15.5805	0.76432	0.0:0.0:0.0:1.0	.	190	Q14119	VEZF1_HUMAN	S	190	.	ENSP00000258963:N190S	N	-	2	0	VEZF1	53415218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.094000	0.63399	0.523000	0.50628	AAT		0.483	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1		
QRICH2	84074	broad.mit.edu	37	17	74276228	74276228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:74276228C>T	ENST00000262765.5	-	12	4315	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGCTCCAGGCGGTCCAGCTG	0.657																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4135-4137)cGc>cAc		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							40.0	47.0	44.0					17																	74276228		2200	4295	6495	SO:0001583	missense	84074						protein binding	g.chr17:74276228C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4136G>A	17.37:g.74276228C>T	ENSP00000262765:p.Arg1379His					QRICH2_uc010dgw.1_Missense_Mutation_p.R223H	p.R1379H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			11	4316	-			1379					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4136G>A	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449094|4.449094	0.84101|0.84101	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.12039	.|2.72	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	T|T	0.39064|0.39064	0.1064|0.1064	M|M	0.68317|0.68317	2.08|2.08	0.45554|0.45554	D|D	0.998508|0.998508	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.08351|0.08351	-1.0726|-1.0726	5|9	.|0.72032	.|D	.|0.01	-19.7287|-19.7287	19.1848|19.1848	0.93639|0.93639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1379	.|Q9H0J4	.|QRIC2_HUMAN	T|H	27|1379	.|ENSP00000262765:R1379H	.|ENSP00000262765:R1379H	A|R	-|-	1|2	0|0	QRICH2|QRICH2	71787823|71787823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.663000|4.663000	0.61532|0.61532	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.657	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
DSG3	1830	broad.mit.edu	37	18	29038537	29038537	+	Missense_Mutation	SNP	G	G	A	rs137884016	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:29038537G>A	ENST00000257189.4	+	4	429	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTATAGTCGACCGGGAGGA	0.443																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(346-348)Gac>Aac		Homo sapiens desmoglein 3 (DSG3), mRNA.		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	83.0	80.0	81.0		346	5.8	0.9	18	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DSG3	NM_001944.2	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	116/1000	29038537	2,13004	2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29038537G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.346G>A	18.37:g.29038537G>A	ENSP00000257189:p.Asp116Asn						p.D116N	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		3	455	+			116			Cadherin 1.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.346G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477191	0.84640	2.27E-4	1.16E-4	ENSG00000134757	ENST00000257189	T	0.63417	-0.04	5.77	5.77	0.91146	Cadherin (5);Cadherin-like (1);	0.000000	0.50627	D	0.000105	D	0.85813	0.5784	H	0.94808	3.585	0.50039	D	0.999842	D	0.89917	1.0	D	0.97110	1.0	D	0.88136	0.2841	10	0.59425	D	0.04	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	116	P32926	DSG3_HUMAN	N	116	ENSP00000257189:D116N	ENSP00000257189:D116N	D	+	1	0	DSG3	27292535	1.000000	0.71417	0.906000	0.35671	0.527000	0.34593	7.456000	0.80751	2.885000	0.99019	0.655000	0.94253	GAC		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
ALPK2	115701	broad.mit.edu	37	18	56203942	56203942	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:56203942C>T	ENST00000361673.3	-	5	3690	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1159						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGATGTCGTAGGCAAAC	0.567																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3475-3477)acG>acA		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							96.0	91.0	93.0					18																	56203942		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203942C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3477G>A	18.37:g.56203942C>T						ALPK2_uc002lhk.1_Silent_p.T490T	p.T1159T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	3691	-			1159					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.3477G>A	CCDS11966.2																																																																																				0.567	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
MAP2K7	5609	broad.mit.edu	37	19	7975352	7975352	+	Silent	SNP	C	C	T	rs373551377		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:7975352C>T	ENST00000397979.3	+	5	516	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.S154S|MAP2K7_ENST00000397983.3_Silent_p.S170S|MAP2K7_ENST00000545011.1_Silent_p.S196S	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGCGGCGCTCCGGGAACAAGG	0.632																																						uc002mit.3																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(460-462)tcC>tcT		Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	Etoposide(DB00773)	G		1,4239		0,1,2119	36.0	37.0	37.0		462	-9.1	0.9	19		37	1,8465		0,1,4232	no	coding-synonymous	MAP2K7	NM_145185.2		0,2,6351	TT,TC,CC		0.0118,0.0236,0.0157		154/420	7975352	2,12704	2120	4233	6353	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975352C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.462C>T	19.37:g.7975352C>T						MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.S29S|MAP2K7_uc010xkb.2_Silent_p.S154S	p.S154S	NM_145185	NP_660186	O14733	MP2K7_HUMAN			4	527	+			154			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.462C>T	CCDS42491.1																																																																																				0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
MUC16	94025	broad.mit.edu	37	19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7168M(1)|p.T11535M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTTGTCGTTGAAACAGC	0.512																																						uc002mkp.3																			2	Substitution - Missense(2)	p.T7168M(1)|p.T11535M(1)	haematopoietic_and_lymphoid_tissue(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34603-34605)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							127.0	122.0	124.0					19																	9047027		2040	4188	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047027G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34604C>T	19.37:g.9047027G>A	ENSP00000381008:p.Thr11535Met						p.T11535M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34808	-			11537			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34604C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.837	0.941290	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.6	0.296	0.15757	.	.	.	.	.	T	0.04003	0.0112	L	0.34521	1.04	.	.	.	D	0.76494	0.999	P	0.57324	0.818	T	0.40572	-0.9556	8	0.87932	D	0	.	5.4895	0.16769	0.3701:0.0:0.6299:0.0	.	11535	B5ME49	.	M	11535	ENSP00000381008:T11535M	ENSP00000381008:T11535M	T	-	2	0	MUC16	8908027	0.002000	0.14202	0.000000	0.03702	0.309000	0.27889	1.143000	0.31553	0.154000	0.19237	0.580000	0.79431	ACG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MRPS12	6183	broad.mit.edu	37	19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	rs140018981	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|SARS2_ENST00000594171.1_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000221431.6_5'Flank|SARS2_ENST00000600042.1_5'Flank	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	84					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		18414	0.002		0.0	False		,,,				2504	0.0					uc002okc.3																			0				endometrium(1)|large_intestine(1)	2						c.(250-252)Cgg>Tgg		Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							58.0	54.0	55.0					19																	39423173		2203	4299	6502	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423173C>T	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"""Mitochondrial ribosomal proteins / small subunits"""	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.250C>T	19.37:g.39423173C>T	ENSP00000384952:p.Arg84Trp					SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.R84W|MRPS12_uc002oke.3_Missense_Mutation_p.R84W	p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	560	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		84					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.250C>T	CCDS12525.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.5	4.155882	0.78114	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.56611	0.45;0.45;0.45	6.07	5.03	0.67393	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054650	0.85682	D	0.000000	D	0.82462	0.5042	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89042	0.3449	10	0.87932	D	0	-32.1337	14.5652	0.68171	0.1473:0.8527:0.0:0.0	.	84	O15235	RT12_HUMAN	W	84	ENSP00000308845:R84W;ENSP00000384952:R84W;ENSP00000384579:R84W	ENSP00000308845:R84W	R	+	1	2	MRPS12	44115013	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	3.906000	0.56340	1.559000	0.49555	0.655000	0.94253	CGG		0.662	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1		
ZNF546	339327	broad.mit.edu	37	19	40520966	40520969	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:40520966_40520969delACTC	ENST00000347077.4	+	7	2005_2008	c.1789_1792delACTC	c.(1789-1794)actcaafs	p.TQ597fs	ZNF546_ENST00000600094.1_Frame_Shift_Del_p.TQ571fs|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	597					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATAATCTTACTCAACATTTTAA	0.353																																						uc002oms.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1789-1794)actcaafs		Homo sapiens zinc finger protein 546 (ZNF546), mRNA.																																				SO:0001589	frameshift_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520966_40520969delACTC	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1789_1792delACTC	19.37:g.40520966_40520969delACTC	ENSP00000339823:p.Thr597fs					ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	p.T597fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			6	2045_2048	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		597					A8K913	Frame_Shift_Del	DEL	ENST00000347077.4	37	c.1789_1792delACTC	CCDS12548.1																																																																																				0.353	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
PSG5	5673	broad.mit.edu	37	19	43689122	43689122	+	Missense_Mutation	SNP	G	G	A	rs377094289		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:43689122G>A	ENST00000366175.3	-	2	372	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG5_ENST00000599812.1_Missense_Mutation_p.S81L|PSG5_ENST00000407356.1_Missense_Mutation_p.S81L|PSG5_ENST00000404580.1_Missense_Mutation_p.S81L|PSG5_ENST00000407568.1_Missense_Mutation_p.S81L|PSG5_ENST00000342951.6_Missense_Mutation_p.S81L|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	81	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TACTACATATGATGTAATGTA	0.433																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(241-243)tCa>tTa		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							256.0	246.0	250.0					19																	43689122		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689122G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.242C>T	19.37:g.43689122G>A	ENSP00000382334:p.Ser81Leu					PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S81L	p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			1	373	-		Prostate(69;0.00899)	81			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.242C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	6.948	0.544716	0.13312	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50531	0.1621	L	0.31476	0.935	0.09310	N	1	B;B;B;P	0.36171	0.407;0.221;0.022;0.541	B;B;B;P	0.45343	0.405;0.216;0.029;0.477	T	0.49113	-0.8973	9	0.42905	T	0.14	.	4.3644	0.11218	0.2815:0.2107:0.5077:0.0	.	81;81;81;81	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	L	81	ENSP00000382334:S81L;ENSP00000386008:S81L;ENSP00000386053:S81L;ENSP00000344413:S81L;ENSP00000385250:S81L	ENSP00000344413:S81L	S	-	2	0	PSG5	48380962	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.223000	0.02962	-1.633000	0.01539	-0.478000	0.04885	TCA		0.433	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	T	rs2271980		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:44055781C>T	ENST00000262887.5	-	10	1688	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	XRCC1_ENST00000543982.1_Missense_Mutation_p.V350M|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors																														uc002owt.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1141-1143)Gtg>Atg	Other BER factors	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.							90.0	83.0	85.0					19																	44055781		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055781C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1141G>A	19.37:g.44055781C>T	ENSP00000262887:p.Val381Met					XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	p.V381M	NM_006297	NP_006288	P18887	XRCC1_HUMAN			9	1261	-		Prostate(69;0.0153)	381			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1141G>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613421	0.87359	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.85629	-2.01;-2.01	5.16	4.11	0.48088	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.77557	0.889;0.99	D	0.91858	0.5497	10	0.72032	D	0.01	-22.7288	13.6093	0.62068	0.1567:0.8433:0.0:0.0	rs2271980;rs2271980	350;381	F5H8D7;P18887	.;XRCC1_HUMAN	M	395;381;350	ENSP00000262887:V381M;ENSP00000443671:V350M	ENSP00000262887:V381M	V	-	1	0	XRCC1	48747621	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	5.071000	0.64382	1.472000	0.48140	0.655000	0.94253	GTG		0.622	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	
APOB	338	broad.mit.edu	37	2	21255225	21255225	+	Splice_Site	DEL	C	C	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:21255225delC	ENST00000233242.1	-	10	1480		c.e10+1		APOB_ENST00000399256.4_Splice_Site	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAACTCACTTGTTGACCG	0.537																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.e10+1		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						78.0	77.0	77.0					2																	21255225		2203	4300	6503	SO:0001630	splice_region_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255225delC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1352+1G>-	2.37:g.21255225delC							p.N451_splice	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		451			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Splice_Site	DEL	ENST00000233242.1	37	c.1352_splice	CCDS1703.1																																																																																				0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		Intron
GLI2	2736	broad.mit.edu	37	2	121747197	121747197	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:121747197G>A	ENST00000452319.1	+	14	3767	c.3707G>A	c.(3706-3708)gGc>gAc	p.G1236D	GLI2_ENST00000361492.4_Missense_Mutation_p.G1236D|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGTCCTGGCATGACTACC	0.652																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3706-3708)gGc>gAc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							27.0	26.0	26.0					2																	121747197		2200	4297	6497	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747197G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3707G>A	2.37:g.121747197G>A	ENSP00000390436:p.Gly1236Asp					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G908D|GLI2_uc002tmu.4_Missense_Mutation_p.G891D	p.G1236D	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	3737	+	Renal(3;0.0496)	Prostate(154;0.0623)	1236						Missense_Mutation	SNP	ENST00000452319.1	37	c.3707G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650448	0.03506	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13657	2.57;2.57	4.57	-3.96	0.04106	.	0.555420	0.19447	N	0.114027	T	0.08935	0.0221	L	0.44542	1.39	0.09310	N	1	B;B	0.26809	0.099;0.16	B;B	0.28232	0.04;0.087	T	0.27331	-1.0077	9	.	.	.	.	6.5821	0.22600	0.4449:0.2168:0.3383:0.0	.	1236;891	P10070;P10070-2	GLI2_HUMAN;.	D	1236	ENSP00000390436:G1236D;ENSP00000354586:G1236D	.	G	+	2	0	GLI2	121463667	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.066000	0.03454	-0.698000	0.05085	-0.519000	0.04390	GGC		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
POTEF	728378	broad.mit.edu	37	2	130877687	130877687	+	Missense_Mutation	SNP	G	G	C	rs200168896		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:130877687G>C	ENST00000409914.2	-	3	801	c.402C>G	c.(400-402)caC>caG	p.H134Q	POTEF_ENST00000360967.5_Missense_Mutation_p.H134Q|POTEF_ENST00000361163.4_Missense_Mutation_p.H134Q|POTEF_ENST00000357462.5_Missense_Mutation_p.H134Q	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	134					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCACGGACGTGGTACCTGG	0.592																																						uc010fmh.2																			0		p.H134D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(400-402)caC>caG		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							66.0	77.0	74.0					2																	130877687		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877687G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.402C>G	2.37:g.130877687G>C	ENSP00000386786:p.His134Gln						p.H134Q	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	802	-			134					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.402C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.318	0.058320	0.08339	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	1.33	-1.4	0.08968	.	.	.	.	.	T	0.36054	0.0953	L	0.50333	1.59	0.09310	N	1	P	0.48350	0.909	B	0.41860	0.368	T	0.28364	-1.0046	9	0.87932	D	0	.	2.7241	0.05209	0.2211:0.3031:0.4758:0.0	.	134	A5A3E0	POTEF_HUMAN	Q	134	ENSP00000350052:H134Q;ENSP00000386786:H134Q;ENSP00000354232:H134Q;ENSP00000355012:H134Q	ENSP00000350052:H134Q	H	-	3	2	POTEF	130594157	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.219000	0.17641	-0.331000	0.08501	-1.597000	0.00832	CAC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
AMER3	205147	broad.mit.edu	37	2	131522112	131522112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:131522112delG	ENST00000423981.1	+	2	2577	c.2467delG	c.(2467-2469)gggfs	p.G824fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G824fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	824					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.V825fs*16(1)									CCAGCAGGAAGGGGGGGTCTC	0.677																																						uc021voy.1																			1	Insertion - Frameshift(1)	p.V825fs*16(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(2467-2469)gggfs		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							9.0	11.0	10.0					2																	131522112		2187	4290	6477	SO:0001589	frameshift_variant	205147							g.chr2:131522112delG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2467delG	2.37:g.131522112delG	ENSP00000392700:p.Gly824fs					FAM123C_uc002trw.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	2467	+	Colorectal(110;0.1)		823					B7ZLH6	Frame_Shift_Del	DEL	ENST00000423981.1	37	c.2467delG	CCDS2164.1																																																																																				0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
KCNJ3	3760	broad.mit.edu	37	2	155711294	155711294	+	Silent	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:155711294T>C	ENST00000295101.2	+	3	1452	c.975T>C	c.(973-975)caT>caC	p.H325H	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	325					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTGGGGTCATCGTTTTTTTC	0.383																																						uc002tyv.1																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(973-975)caT>caC		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	Halothane(DB01159)						127.0	130.0	129.0					2																	155711294		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711294T>C	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.975T>C	2.37:g.155711294T>C						KCNJ3_uc010zce.1_3'UTR	p.H325H	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	1170	+			325					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.975T>C	CCDS2200.1																																																																																				0.383	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
UPP2	151531	broad.mit.edu	37	2	158971751	158971751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:158971751G>A	ENST00000005756.4	+	3	513	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	UPP2_ENST00000409859.4_Missense_Mutation_p.G164R|UPP2_ENST00000605860.1_Missense_Mutation_p.G164R|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	107					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GTACAAAACCGGGCCTGTGCT	0.438																																						uc002tzo.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(490-492)Ggg>Agg		Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.							97.0	97.0	97.0					2																	158971751		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971751G>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.319G>A	2.37:g.158971751G>A	ENSP00000005756:p.Gly107Arg					UPP2_uc002tzp.3_Missense_Mutation_p.G107R	p.G164R	NM_001135098	NP_775491	O95045	UPP2_HUMAN			4	510	+			107					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.490G>A	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568186	0.45798	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.86769	-2.17;-2.17	5.7	3.9	0.45041	Nucleoside phosphorylase domain (1);	0.053414	0.85682	N	0.000000	D	0.93910	0.8051	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93534	0.6872	10	0.87932	D	0	.	10.015	0.42010	0.0725:0.0:0.7899:0.1377	.	107	O95045	UPP2_HUMAN	R	164;107	ENSP00000387230:G164R;ENSP00000005756:G107R	ENSP00000005756:G107R	G	+	1	0	UPP2	158679997	1.000000	0.71417	0.041000	0.18516	0.017000	0.09413	4.780000	0.62382	0.758000	0.33059	-0.150000	0.13652	GGG		0.438	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355	
ITGB6	3694	broad.mit.edu	37	2	160964323	160964323	+	Missense_Mutation	SNP	A	A	G	rs367865998		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:160964323A>G	ENST00000283249.2	-	14	2372	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	ITGB6_ENST00000409872.1_Missense_Mutation_p.M712T|ITGB6_ENST00000428609.2_Missense_Mutation_p.M670T|ITGB6_ENST00000409967.2_Missense_Mutation_p.M605T	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	712					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACCCCTAACATGATCATGGG	0.403																																						uc002ubh.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2134-2136)aTg>aCg		Homo sapiens integrin, beta 6 (ITGB6), mRNA.		A	THR/MET	0,4406		0,0,2203	86.0	88.0	87.0		2135	5.8	1.0	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB6	NM_000888.3	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	712/789	160964323	1,13005	2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964323A>G		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2135T>C	2.37:g.160964323A>G	ENSP00000283249:p.Met712Thr					ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	p.M712T	NM_000888	NP_000879	P18564	ITB6_HUMAN			13	2150	-			712					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2135T>C	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628921	0.46944	0.0	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.89939	-2.44;-2.45;-2.59;-2.44	5.79	5.79	0.91817	.	0.270585	0.47455	D	0.000221	D	0.86426	0.5930	L	0.54323	1.7	0.41466	D	0.988074	B;B	0.29716	0.255;0.255	B;B	0.21360	0.034;0.034	D	0.85688	0.1305	10	0.87932	D	0	.	16.1376	0.81497	1.0:0.0:0.0:0.0	.	670;712	E9PEE8;P18564	.;ITB6_HUMAN	T	712;670;605;712	ENSP00000283249:M712T;ENSP00000408024:M670T;ENSP00000386828:M605T;ENSP00000386367:M712T	ENSP00000283249:M712T	M	-	2	0	ITGB6	160672569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.857000	0.75455	2.212000	0.71576	0.533000	0.62120	ATG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
TTN	7273	broad.mit.edu	37	2	179431071	179431071	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:179431071G>A	ENST00000591111.1	-	276	75089	c.74865C>T	c.(74863-74865)tcC>tcT	p.S24955S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S17656S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S17723S|TTN_ENST00000460472.2_Silent_p.S17531S|TTN_ENST00000589042.1_Silent_p.S26596S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.S24028S			Q8WZ42	TITIN_HUMAN	titin	24955	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTAATTCGGAGTCAAGGT	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72082-72084)tcC>tcT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							145.0	148.0	147.0					2																	179431071		2023	4194	6217	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431071G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74865C>T	2.37:g.179431071G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S17723S|TTN_uc021vta.1_Silent_p.S17656S|TTN_uc021vtb.1_Silent_p.S17531S	p.S24028S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	72309	-			24955			Fibronectin type-III 74.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.72084C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UGT1A1	54658	broad.mit.edu	37	2	234669059	234669059	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669059C>T	ENST00000608383.1	+	1	126	c.126C>T	c.(124-126)agC>agT	p.S42S	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.S42S|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.S42S|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	42					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	ACTGGCTGAGCATGCTTGGGG	0.577																																						uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30								Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						75.0	58.0	64.0					2																	234669059		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669059C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.126C>T	2.37:g.234669059C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.S42S|UGT1A1_uc002vvb.3_Silent_p.S42S		NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)			+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37		CCDS2510.1																																																																																				0.577	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding			
UGT1A1	54658	broad.mit.edu	37	2	234669074	234669074	+	Silent	SNP	C	C	T	rs34526305	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669074C>T	ENST00000608383.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.I47I|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.I47I|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	47					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.I47I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTGGGGCCATCCAGCAGCTGC	0.567													C|||	5	0.000998403	0.0008	0.0014	5008	,	,		17075	0.0		0.003	False		,,,				2504	0.0					uc002vuw.3																			1	Substitution - coding silent(1)	p.I47I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30								Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	C	,,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	92.0	72.0	79.0		141,,,,,,,,,	1.5	0.9	2	dbSNP_126	79	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_000463.2,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	0,22,6481	TT,TC,CC		0.2326,0.0454,0.1692	,,,,,,,,,	47/534,,,,,,,,,	234669074	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669074C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.141C>T	2.37:g.234669074C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.I47I|UGT1A1_uc002vvb.3_Silent_p.I47I		NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)			+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37		CCDS2510.1																																																																																				0.567	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding			
BPIFB2	80341	broad.mit.edu	37	20	31606076	31606076	+	Missense_Mutation	SNP	G	G	A	rs147688509	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:31606076G>A	ENST00000170150.3	+	8	784	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	197						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCTCAACCCCGTGGGTCCTGA	0.483													G|||	8	0.00159744	0.0053	0.0	5008	,	,		21074	0.001		0.0	False		,,,				2504	0.0					uc002wyj.3																			0											c.(589-591)Gtg>Atg		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.		G	MET/VAL	29,4377	35.2+/-66.4	0,29,2174	109.0	98.0	102.0		589	3.0	1.0	20	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BPIFB2	NM_025227.1	21	0,32,6471	AA,AG,GG		0.0349,0.6582,0.246	probably-damaging	197/459	31606076	32,12974	2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606076G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.589G>A	20.37:g.31606076G>A	ENSP00000170150:p.Val197Met						p.V197M	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			7	783	+			197					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.589G>A	CCDS13210.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	19.31	3.802440	0.70682	0.006582	3.49E-4	ENSG00000078898	ENST00000170150	T	0.05447	3.44	5.01	2.99	0.34606	.	0.154659	0.31268	N	0.007942	T	0.08223	0.0205	L	0.34521	1.04	0.37087	D	0.899262	D	0.89917	1.0	D	0.73708	0.981	T	0.01966	-1.1238	10	0.87932	D	0	-19.837	6.107	0.20079	0.1005:0.1918:0.7078:0.0	.	197	Q8N4F0	BPIB2_HUMAN	M	197	ENSP00000170150:V197M	ENSP00000170150:V197M	V	+	1	0	BPIFB2	31069737	0.926000	0.31397	0.991000	0.47740	0.931000	0.56810	1.353000	0.34045	2.613000	0.88420	0.561000	0.74099	GTG		0.483	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	
PIGU	128869	broad.mit.edu	37	20	33169458	33169460	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:33169458_33169460delGAA	ENST00000374820.2	-	9	903_905	c.883_885delTTC	c.(883-885)ttcdel	p.F295del	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_In_Frame_Del_p.F315del			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	315					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGATAAACATGAAGAAGATGGGG	0.562																																						uc002xas.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(943-945)ttcdel		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.																																				SO:0001651	inframe_deletion	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33169458_33169460delGAA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.883_885delTTC	20.37:g.33169461_33169463delGAA	ENSP00000363953:p.Phe295del					PIGU_uc010zul.2_In_Frame_Del_p.F315del|PIGU_uc002xat.3_In_Frame_Del_p.F295del	p.F315del	NM_080476	NP_536724	Q9H490	PIGU_HUMAN			9	1143_1145	-			315					Q7Z489|Q8N2F2	In_Frame_Del	DEL	ENST00000374820.2	37	c.943_945delTTC																																																																																					0.562	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476	
RBM38	55544	broad.mit.edu	37	20	55968365	55968365	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:55968365C>G	ENST00000356208.5	+	3	567	c.392C>G	c.(391-393)cCc>cGc	p.P131R	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_Missense_Mutation_p.P50R|RBM38_ENST00000440234.2_Intron	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	131					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGCTGCACCCCACCTTGATC	0.597																																						uc010zzj.2																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(391-393)cCc>cGc		Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.							140.0	150.0	146.0					20																	55968365		2008	4158	6166	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55968365C>G	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.392C>G	20.37:g.55968365C>G	ENSP00000348538:p.Pro131Arg					MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_Intron	p.P131R	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		2	576	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		131					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.392C>G	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990679	0.93106	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.20463	2.3;2.07	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.50684	-0.8799	10	0.72032	D	0.01	2.5392	17.4641	0.87627	0.0:1.0:0.0:0.0	.	131	Q9H0Z9	RBM38_HUMAN	R	131;50	ENSP00000348538:P131R;ENSP00000360263:P50R	ENSP00000345248:P108R	P	+	2	0	RBM38	55401771	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.064000	0.76721	2.191000	0.70037	0.655000	0.94253	CCC		0.597	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425	
KRTAP19-4	337971	broad.mit.edu	37	21	31869311	31869311	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr21:31869311C>T	ENST00000334058.2	-	1	140	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	40						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCCAAAGCCACAGCCATAA	0.527																																						uc011acz.2																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(118-120)Ggc>Agc		Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.							128.0	132.0	131.0					21																	31869311		2203	4300	6503	SO:0001583	missense	337971					intermediate filament		g.chr21:31869311C>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.118G>A	21.37:g.31869311C>T	ENSP00000335567:p.Gly40Ser						p.G40S	NM_181610	NP_853641	Q3LI73	KR194_HUMAN			0	118	-			40					Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	c.118G>A	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068458	0.36470	.	.	ENSG00000186967	ENST00000334058	T	0.33865	1.39	4.57	4.57	0.56435	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.23776	N	0.996878	D	0.71674	0.998	D	0.71414	0.973	T	0.48210	-0.9055	8	0.87932	D	0	.	13.0372	0.58879	0.0:1.0:0.0:0.0	.	40	Q3LI73	KR194_HUMAN	S	40	ENSP00000335567:G40S	ENSP00000335567:G40S	G	-	1	0	KRTAP19-4	30791182	0.660000	0.27420	0.937000	0.37676	0.649000	0.38597	3.142000	0.50601	2.535000	0.85469	0.585000	0.79938	GGC		0.527	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2		
COL7A1	1294	broad.mit.edu	37	3	48629808	48629808	+	Missense_Mutation	SNP	G	G	A	rs146041612		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:48629808G>A	ENST00000328333.8	-	8	1176	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R357C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATGTCACACGGTAGCCAGTG	0.637																																						uc003ctz.2																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1069-1071)Cgt>Tgt		Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.		G	CYS/ARG	1,4405		0,1,2202	33.0	33.0	33.0		1069	3.5	1.0	3	dbSNP_134	33	0,8596		0,0,4298	no	missense	COL7A1	NM_000094.3	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	357/2945	48629808	1,13001	2203	4298	6501	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629808G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1069C>T	3.37:g.48629808G>A	ENSP00000332371:p.Arg357Cys						p.R357C	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	7	1070	-			357			Fibronectin type-III 2.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1069C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069781	0.20147	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.59364	0.27;0.27	3.55	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000673	T	0.73079	0.3541	M	0.74467	2.265	0.44323	D	0.997206	D	0.89917	1.0	D	0.75484	0.986	T	0.76691	-0.2866	10	0.66056	D	0.02	.	12.3713	0.55256	0.0:0.0:1.0:0.0	.	357	Q02388	CO7A1_HUMAN	C	357	ENSP00000332371:R357C;ENSP00000412569:R357C	ENSP00000332371:R357C	R	-	1	0	COL7A1	48604812	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.462000	0.60121	2.007000	0.58848	0.462000	0.41574	CGT		0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
IFT57	55081	broad.mit.edu	37	3	107938379	107938379	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:107938379A>T	ENST00000264538.3	-	2	500	c.253T>A	c.(253-255)Tac>Aac	p.Y85N		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CAAAACATGTAGAACTGTTCG	0.408																																						uc021xcc.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(346-348)Tac>Aac		Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.							104.0	99.0	101.0					3																	107938379		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938379A>T	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.253T>A	3.37:g.107938379A>T	ENSP00000264538:p.Tyr85Asn					IFT57_uc003dwx.4_Missense_Mutation_p.Y85N	p.Y116N	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		1	399	-			85					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.346T>A	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550906	0.86127	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.87	5.87	0.94306	.	0.054403	0.85682	D	0.000000	T	0.78559	0.4302	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.80379	-0.1407	9	0.62326	D	0.03	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	85	Q9NWB7	IFT57_HUMAN	N	85;116	.	ENSP00000264538:Y85N	Y	-	1	0	IFT57	109421069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.352000	0.79404	2.371000	0.80710	0.533000	0.62120	TAC		0.408	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	
COL6A6	131873	broad.mit.edu	37	3	130354555	130354555	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:130354555G>A	ENST00000358511.6	+	27	5072	c.5041G>A	c.(5041-5043)Gac>Aac	p.D1681N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1681N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1681	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATTGGGGACCCTGGTGG	0.373																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5041-5043)Gac>Aac		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							78.0	79.0	79.0					3																	130354555		1847	4083	5930	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130354555G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5041G>A	3.37:g.130354555G>A	ENSP00000351310:p.Asp1681Asn					COL6A6_uc003eni.4_5'UTR	p.D1681N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			26	5072	+			1681			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5041G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155323	0.57259	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90563	-2.69;-2.69	5.41	5.41	0.78517	.	.	.	.	.	D	0.91112	0.7202	N	0.20986	0.625	0.31055	N	0.714763	D	0.89917	1.0	D	0.80764	0.994	D	0.87922	0.2704	9	0.27785	T	0.31	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	1681	A6NMZ7	CO6A6_HUMAN	N	1681	ENSP00000351310:D1681N;ENSP00000399236:D1681N	ENSP00000351310:D1681N	D	+	1	0	COL6A6	131837245	0.999000	0.42202	1.000000	0.80357	0.853000	0.48598	3.345000	0.52182	2.531000	0.85337	0.655000	0.94253	GAC		0.373	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:79399128G>A	ENST00000264895.6	+	55	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2667	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8011-8013)Gag>Aag		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							93.0	91.0	91.0					4																	79399128		1910	4136	6046	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79399128G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8011G>A	4.37:g.79399128G>A	ENSP00000264895:p.Glu2671Lys						p.E2671K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			54	8451	+			2666			Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8011G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.224083|3.224083	0.58668|0.58668	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.27890|.	1.64|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82875|0.82875	0.5132|0.5132	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82778|0.82778	-0.0289|-0.0289	10|5	0.39692|.	T|.	0.17|.	.|.	20.181|20.181	0.98201|0.98201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2671|.	E9PHH6|.	.|.	K|Q	2671|899	ENSP00000264895:E2671K|.	ENSP00000264895:E2671K|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79618152|79618152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.034000|0.034000	0.12701|0.12701	9.165000|9.165000	0.94761|0.94761	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NR3C2	4306	broad.mit.edu	37	4	149073647	149073647	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:149073647T>C	ENST00000358102.3	-	6	2845	c.2483A>G	c.(2482-2484)tAt>tGt	p.Y828C	NR3C2_ENST00000512865.1_Missense_Mutation_p.Y711C|NR3C2_ENST00000511528.1_Missense_Mutation_p.Y832C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y828C|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y832C|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	828	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGGTGCAAAATAGAGAAATTG	0.358																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2482-2484)tAt>tGt		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						123.0	124.0	123.0					4																	149073647		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149073647T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2483A>G	4.37:g.149073647T>C	ENSP00000350815:p.Tyr828Cys					NR3C2_uc003ilk.4_Missense_Mutation_p.Y711C|NR3C2_uc010iph.3_Intron	p.Y828C	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2846	-	all_hematologic(180;0.151)		828			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2483A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580187	0.65992	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64	5.76	5.76	0.90799	.	0.247643	0.42548	D	0.000698	D	0.96525	0.8866	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.977	D	0.96191	0.9138	9	.	.	.	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	711;828	B0ZBF5;B0ZBF6	.;.	C	828;832;828;711;832	ENSP00000341390:Y828C;ENSP00000347441:Y832C;ENSP00000350815:Y828C;ENSP00000423510:Y711C;ENSP00000421481:Y832C	.	Y	-	2	0	NR3C2	149293097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.191000	0.70037	0.533000	0.62120	TAT		0.358	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
ADAM29	11086	broad.mit.edu	37	4	175897719	175897719	+	Missense_Mutation	SNP	G	G	A	rs201308805		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:175897719G>A	ENST00000359240.3	+	5	1713	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	ADAM29_ENST00000445694.1_Missense_Mutation_p.R348H|ADAM29_ENST00000514159.1_Missense_Mutation_p.R348H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.R348H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	348	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATACATGTCGTTGTTCACAA	0.373																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1042-1044)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	140.0	141.0		1043,1043,1043,1043	-7.2	0.0	4		141	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	29,29,29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	348/821,348/821,348/821,348/821	175897719	3,13003	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897719G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1043G>A	4.37:g.175897719G>A	ENSP00000352177:p.Arg348His					ADAM29_uc003iud.3_Missense_Mutation_p.R348H|ADAM29_uc010irr.3_Missense_Mutation_p.R348H|ADAM29_uc011cki.2_Missense_Mutation_p.R348H|ADAM29_uc021xuo.1_Missense_Mutation_p.R348H	p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1713	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	348			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1043G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308218	0.23821	2.27E-4	2.33E-4	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	3.6	-7.2	0.01495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	4.010880	0.01831	U	0.034703	T	0.10594	0.0259	N	0.13168	0.305	0.09310	N	1	D	0.71674	0.998	P	0.61592	0.891	T	0.34129	-0.9841	9	.	.	.	.	1.6479	0.02766	0.1398:0.387:0.177:0.2961	.	348	Q9UKF5	ADA29_HUMAN	H	348	ENSP00000352177:R348H;ENSP00000414544:R348H;ENSP00000384229:R348H;ENSP00000423517:R348H	.	R	+	2	0	ADAM29	176134294	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.801000	0.00761	-2.197000	0.00750	-0.496000	0.04628	CGT		0.373	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000379638.4_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	155						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433													G|||	1884	0.376198	0.6831	0.2867	5008	,	,		20786	0.1815		0.3638	False		,,,				2504	0.2382					uc021ycm.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(463-465)Agt>Ggt		RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;																																				SO:0001583	missense	6728							g.chr5:112227799A>G	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.463A>G	5.37:g.112227799A>G	ENSP00000375133:p.Ser155Gly					SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.S155G							0	491	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.463A>G		797	0.3649267399267399	315	0.6402439024390244	109	0.3011049723756906	109	0.19055944055944055	264	0.3482849604221636	G	2.141	-0.396859	0.04899	.	.	ENSG00000212643	ENST00000391338	.	.	.	2.31	2.31	0.28768	.	0.322273	0.37219	N	0.002193	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.47086	-0.9144	7	0.02654	T	1	.	7.0754	0.25201	0.154:0.0:0.846:0.0	rs712665;rs1619690;rs3733965;rs58992073;rs712665	155	Q15695	U2AFL_HUMAN	G	155	.	ENSP00000375133:S155G	S	+	1	0	ZRSR1	112255698	1.000000	0.71417	0.026000	0.17262	0.556000	0.35491	2.463000	0.45058	0.094000	0.17404	-0.349000	0.07799	AGT		0.433	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083	
KIF3A	11127	broad.mit.edu	37	5	132038627	132038627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:132038627C>A	ENST00000378746.4	-	11	1734	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	KIF3A_ENST00000378735.1_Nonsense_Mutation_p.E509*|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000403231.1_Nonsense_Mutation_p.E533*	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	506					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCTTTCTTCCAGTTCC	0.408																																						uc011cxf.2																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1597-1599)Gaa>Taa		Homo sapiens kinesin family member 3A (KIF3A), mRNA.							220.0	219.0	219.0					5																	132038627		2203	4300	6503	SO:0001587	stop_gained	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132038627C>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1516G>T	5.37:g.132038627C>A	ENSP00000368020:p.Glu506*					KIF3A_uc003kxm.3_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.3_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.3_Nonsense_Mutation_p.E506*|KIF3A_uc003kxp.3_Nonsense_Mutation_p.E509*	p.E533*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1751	-		all_cancers(142;0.0751)|Breast(839;0.198)	506					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Nonsense_Mutation	SNP	ENST00000378746.4	37	c.1597G>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	36	5.785410	0.96937	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	506;509;533;34;533	.	ENSP00000368009:E509X	E	-	1	0	KIF3A	132066526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.408	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
SPOCK1	6695	broad.mit.edu	37	5	136324273	136324273	+	Silent	SNP	A	A	G	rs373166420		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:136324273A>G	ENST00000394945.1	-	8	935	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.L256L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	256					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGTCCAACTTGTTGAAC	0.498																																						uc003lbo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(766-768)Ttg>Ctg		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	140.0	118.0	126.0		766	-1.7	0.9	5		126	0,8600		0,0,4300	no	coding-synonymous	SPOCK1	NM_004598.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		256/440	136324273	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324273A>G	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.766T>C	5.37:g.136324273A>G						SPOCK1_uc003lbp.3_Silent_p.L256L	p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	957	-			256					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.766T>C	CCDS4191.1																																																																																				0.498	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
ETF1	2107	broad.mit.edu	37	5	137848498	137848498	+	Silent	SNP	G	G	T	rs145474099	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:137848498G>T	ENST00000360541.5	-	6	908	c.687C>A	c.(685-687)tcC>tcA	p.S229S	ETF1_ENST00000503014.1_Silent_p.S215S|ETF1_ENST00000499810.2_Silent_p.S196S	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	229					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAAGTCAGCGGATCCAGCTA	0.403																																						uc003ldc.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(685-687)tcC>tcA		Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.							73.0	74.0	73.0					5																	137848498		2203	4300	6503	SO:0001819	synonymous_variant	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137848498G>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.687C>A	5.37:g.137848498G>T						ETF1_uc011cyv.2_Silent_p.S215S|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	p.S229S	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	852	-			229					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.687C>A	CCDS4207.1																																																																																				0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
PCDHA2	56146	broad.mit.edu	37	5	140176802	140176802	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:140176802G>A	ENST00000526136.1	+	1	2253	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHA2_ENST00000378132.1_Silent_p.S751S|PCDHA2_ENST00000520672.2_Silent_p.S751S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	751	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672																																						uc003lhd.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.(2251-2253)tcG>tcA		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							43.0	47.0	46.0					5																	140176802		2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176802G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2253G>A	5.37:g.140176802G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S751S|PCDHAC2_uc011czy.2_Silent_p.S751S	p.S751S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2359	+			788					O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2253G>A	CCDS54914.1																																																																																				0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
ARAP3	64411	broad.mit.edu	37	5	141041288	141041288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:141041288G>A	ENST00000239440.4	-	21	3147	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	ARAP3_ENST00000513878.1_Missense_Mutation_p.R690C|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R859C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1028	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTGTGCGGCGGTTGACCCGC	0.557																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3082-3084)Cgc>Tgc		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							91.0	96.0	94.0					5																	141041288		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041288G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3082C>T	5.37:g.141041288G>A	ENSP00000239440:p.Arg1028Cys					ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R690C|ARAP3_uc003lln.3_Missense_Mutation_p.R859C	p.R1028C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			20	3160	-			1028			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3082C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296281	0.81025	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22134	1.97;1.97;1.97	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.125363	0.51477	D	0.000100	T	0.48447	0.1500	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.966	T	0.49781	-0.8903	10	0.87932	D	0	.	13.7431	0.62860	0.0:0.0:0.8462:0.1538	.	690;859;1028	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	C	859;1028;690	ENSP00000421826:R859C;ENSP00000239440:R1028C;ENSP00000421468:R690C	ENSP00000239440:R1028C	R	-	1	0	ARAP3	141021472	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.740000	0.47418	2.777000	0.95525	0.655000	0.94253	CGC		0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
ZNF165	7718	broad.mit.edu	37	6	28053436	28053436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:28053436T>C	ENST00000377325.1	+	2	734	c.178T>C	c.(178-180)Tct>Cct	p.S60P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	60					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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACCAGGATTCTCCTGGACC	0.537																																						uc021yro.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(178-180)Tct>Cct		Homo sapiens zinc finger protein 165 (ZNF165), mRNA.							91.0	99.0	97.0					6																	28053436		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053436T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.178T>C	6.37:g.28053436T>C	ENSP00000366542:p.Ser60Pro					ZNF165_uc003nkh.3_Missense_Mutation_p.S60P|ZNF165_uc003nki.4_Missense_Mutation_p.S60P	p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN			1	1005	+			60						Missense_Mutation	SNP	ENST00000377325.1	37	c.178T>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520454	0.44866	.	.	ENSG00000197279	ENST00000377325	T	0.04551	3.6	3.72	-2.95	0.05564	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05868	0.0153	M	0.87180	2.865	0.09310	N	1	D	0.53462	0.96	P	0.51777	0.679	T	0.10200	-1.0640	9	0.72032	D	0.01	.	7.2063	0.25909	0.152:0.0:0.5963:0.2516	.	60	P49910	ZN165_HUMAN	P	60	ENSP00000366542:S60P	ENSP00000366542:S60P	S	+	1	0	ZNF165	28161415	0.000000	0.05858	0.056000	0.19401	0.607000	0.37147	-0.439000	0.06897	-0.231000	0.09825	0.533000	0.62120	TCT		0.537	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	
ITPR3	3710	broad.mit.edu	37	6	33653482	33653482	+	Missense_Mutation	SNP	C	C	T	rs201614062		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:33653482C>T	ENST00000374316.5	+	42	6605	c.5545C>T	c.(5545-5547)Cgc>Tgc	p.R1849C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1849C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1849					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1849C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCCAGCCTGCGCCGGGGGCA	0.662																																						uc021ywr.1																			1	Substitution - Missense(1)	p.R1849C(2)	central_nervous_system(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5545-5547)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.			CYS/ARG	0,4406		0,0,2203	61.0	58.0	59.0		5545	3.8	1.0	6		59	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ITPR3	NM_002224.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1849/2672	33653482	2,13004	2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653482C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5545C>T	6.37:g.33653482C>T	ENSP00000363435:p.Arg1849Cys						p.R1849C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			40	5769	+			1849					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5545C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688368	0.68271	0.0	2.33E-4	ENSG00000096433	ENST00000374316	D	0.92249	-3.0	4.69	3.8	0.43715	.	1.290140	0.05376	N	0.536346	D	0.89305	0.6677	L	0.60067	1.865	0.32173	N	0.581392	D	0.62365	0.991	P	0.50192	0.634	T	0.77603	-0.2526	10	0.62326	D	0.03	-5.5769	9.171	0.37081	0.1655:0.6748:0.1597:0.0	.	1849	Q14573	ITPR3_HUMAN	C	1849	ENSP00000363435:R1849C	ENSP00000363435:R1849C	R	+	1	0	ITPR3	33761460	0.025000	0.19082	0.998000	0.56505	0.907000	0.53573	0.554000	0.23407	0.946000	0.37632	0.313000	0.20887	CGC		0.662	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
SNAP91	9892	broad.mit.edu	37	6	84292053	84292053	+	Silent	SNP	C	C	T	rs202058742		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:84292053C>T	ENST00000439399.2	-	23	2353	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SNAP91_ENST00000428679.2_Silent_p.A679A|SNAP91_ENST00000521485.1_Silent_p.A679A|SNAP91_ENST00000437520.1_Silent_p.A372A|SNAP91_ENST00000369694.2_Silent_p.A679A|SNAP91_ENST00000521743.1_Silent_p.A679A|SNAP91_ENST00000520302.1_Silent_p.A649A|SNAP91_ENST00000520213.1_Silent_p.A372A|SNAP91_ENST00000195649.6_Silent_p.A679A|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	679					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATGGGGAAGGCGCCATGAAAG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		16405	0.001		0.0	False		,,,				2504	0.0					uc021zcf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2035-2037)gcG>gcA		Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.							60.0	61.0	61.0					6																	84292053		1937	4140	6077	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84292053C>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2037G>A	6.37:g.84292053C>T						SNAP91_uc011dzd.2_Silent_p.A182A|SNAP91_uc003pka.3_Silent_p.A677A|SNAP91_uc011dze.2_Silent_p.A677A|SNAP91_uc003pkc.3_Silent_p.A649A|SNAP91_uc003pkd.3_Silent_p.A372A|SNAP91_uc003pkb.3_Silent_p.A588A	p.A679A	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	21	2067	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	679					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.2037G>A	CCDS47455.1																																																																																				0.433	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
PM20D2	135293	broad.mit.edu	37	6	89868090	89868090	+	Missense_Mutation	SNP	A	A	G	rs141826904		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:89868090A>G	ENST00000275072.4	+	5	1054	c.959A>G	c.(958-960)aAt>aGt	p.N320S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	320						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GTTCTTCCCAATAAGAGCCTA	0.318													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16644	0.0		0.0	False		,,,				2504	0.0					uc003pmz.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(958-960)aAt>aGt		Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.		A	SER/ASN	5,4401	8.1+/-20.4	0,5,2198	93.0	100.0	98.0		959	5.3	1.0	6	dbSNP_134	98	0,8596		0,0,4298	yes	missense	PM20D2	NM_001010853.1	46	0,5,6496	GG,GA,AA		0.0,0.1135,0.0385	probably-damaging	320/437	89868090	5,12997	2203	4298	6501	SO:0001583	missense	135293						hydrolase activity	g.chr6:89868090A>G	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.959A>G	6.37:g.89868090A>G	ENSP00000275072:p.Asn320Ser						p.N320S	NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	4	1054	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	320					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.959A>G	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235486	0.79800	0.001135	0.0	ENSG00000146281	ENST00000275072	T	0.47869	0.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.86097	2.795	0.46396	D	0.999025	D	0.65815	0.995	D	0.67231	0.95	T	0.70630	-0.4819	10	0.54805	T	0.06	-14.5779	15.309	0.74016	1.0:0.0:0.0:0.0	.	320	Q8IYS1	P20D2_HUMAN	S	320	ENSP00000275072:N320S	ENSP00000275072:N320S	N	+	2	0	PM20D2	89924809	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.287000	0.72671	2.016000	0.59253	0.477000	0.44152	AAT		0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853	
SIM1	6492	broad.mit.edu	37	6	100841583	100841583	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:100841583C>T	ENST00000369208.3	-	11	2132	c.1350G>A	c.(1348-1350)gcG>gcA	p.A450A	SIM1_ENST00000262901.4_Silent_p.A450A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	450	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1348-1350)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							83.0	80.0	81.0					6																	100841583		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841583C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1350G>A	6.37:g.100841583C>T						SIM1_uc021zdg.1_Silent_p.A450A|SIM1_uc010kcu.3_Silent_p.A450A	p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1817	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	450			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1350G>A	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
BCLAF1	9774	broad.mit.edu	37	6	136599630	136599630	+	Missense_Mutation	SNP	C	C	T	rs147614051		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:136599630C>T	ENST00000531224.1	-	4	641	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R130H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R128H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R130H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R128H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R128H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	130					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATGACCGGCGAGATCTGCT	0.458																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(388-390)cGc>cAc		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	188.0	201.0	196.0		383,389,389	5.6	1.0	6	dbSNP_134	196	0,8600		0,0,4300	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	128/870,130/748,130/921	136599630	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599630C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.389G>A	6.37:g.136599630C>T	ENSP00000435210:p.Arg130His					BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H	p.R130H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	642	-	Colorectal(23;0.24)		130					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.389G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150168	0.57151	2.27E-4	0.0	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.13114	0.0318	N	0.16368	0.405	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	P;P;P;P	0.57324	0.706;0.818;0.706;0.706	T	0.08743	-1.0707	10	0.52906	T	0.07	-1.1415	19.6986	0.96043	0.0:1.0:0.0:0.0	.	128;128;130;130	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	130;128;130;130;128;128;130	ENSP00000435210:R130H;ENSP00000229446:R128H;ENSP00000435441:R130H;ENSP00000436501:R130H;ENSP00000434826:R128H;ENSP00000376159:R128H;ENSP00000431734:R130H	ENSP00000229446:R128H	R	-	2	0	BCLAF1	136641323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.469000	0.53093	2.660000	0.90430	0.557000	0.71058	CGC		0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
OPRM1	4988	broad.mit.edu	37	6	154412347	154412347	+	Missense_Mutation	SNP	G	G	A	rs187512719		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:154412347G>A	ENST00000330432.7	+	3	1141	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	OPRM1_ENST00000360422.4_Missense_Mutation_p.V302I|OPRM1_ENST00000419506.2_Missense_Mutation_p.V302I|OPRM1_ENST00000522236.1_Missense_Mutation_p.V202I|OPRM1_ENST00000518759.1_Missense_Mutation_p.V221I|OPRM1_ENST00000522555.1_Missense_Mutation_p.V202I|OPRM1_ENST00000414028.2_Missense_Mutation_p.V302I|OPRM1_ENST00000435918.2_Missense_Mutation_p.V302I|OPRM1_ENST00000428397.2_Missense_Mutation_p.V302I|OPRM1_ENST00000434900.2_Missense_Mutation_p.V395I|OPRM1_ENST00000520708.1_Missense_Mutation_p.V202I|OPRM1_ENST00000337049.4_Missense_Mutation_p.V302I|OPRM1_ENST00000524163.1_Missense_Mutation_p.V302I|OPRM1_ENST00000452687.2_Missense_Mutation_p.V302I|OPRM1_ENST00000229768.5_Missense_Mutation_p.V302I	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	302					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCACATTTACGTCATCATTAA	0.483													G|||	0	0.0	0.0	0.0	5008	,	,		21287	0.0		0.0	False		,,,				2504	0.0					uc011efe.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1183-1185)Gtc>Atc		Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	157.0	171.0	166.0		904,904,904,904,1183,604,661,904,904,904,904,904,604	5.9	1.0	6		166	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001008504.2,NM_001008505.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1	29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	302/401,302/419,302/393,302/447,395/494,202/301,221/320,302/407,302/398,302/404,302/390,302/421,202/301	154412347	1,12997	2200	4299	6499	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412347G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.904G>A	6.37:g.154412347G>A	ENSP00000328264:p.Val302Ile					OPRM1_uc011efd.2_Missense_Mutation_p.V202I|OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.2_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpr.2_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	p.V395I	NM_001145279	NP_001138751	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1706	+		Ovarian(120;0.196)	302					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1183G>A	CCDS55070.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.15	3.041155	0.55003	2.27E-4	0.0	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.20574	0.59	0.52501	D	0.999958	D;P;P;D;D;P;P;P;P;P;P;P	0.89917	1.0;0.848;0.848;1.0;0.97;0.717;0.469;0.919;0.875;0.692;0.919;0.669	D;B;B;D;P;B;B;P;B;B;P;B	0.83275	0.996;0.267;0.267;0.996;0.555;0.28;0.182;0.555;0.386;0.139;0.555;0.184	T	0.07046	-1.0793	10	0.21540	T	0.41	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	302;302;302;302;395;221;202;302;302;302;302;302	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	I	395;202;221;302;302;302;302;302;302;302;302;302;302;202;202	ENSP00000394624:V395I;ENSP00000430876:V202I;ENSP00000430260:V221I;ENSP00000328264:V302I;ENSP00000353598:V302I;ENSP00000411903:V302I;ENSP00000410497:V302I;ENSP00000229768:V302I;ENSP00000403549:V302I;ENSP00000430097:V302I;ENSP00000399359:V302I;ENSP00000413752:V302I;ENSP00000338381:V302I;ENSP00000429719:V202I;ENSP00000429373:V202I	ENSP00000229768:V302I	V	+	1	0	OPRM1	154454040	1.000000	0.71417	0.984000	0.44739	0.891000	0.51852	6.722000	0.74735	2.774000	0.95407	0.650000	0.86243	GTC		0.483	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914	
SDK1	221935	broad.mit.edu	37	7	4011107	4011107	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:4011107C>A	ENST00000404826.2	+	12	1863	c.1724C>A	c.(1723-1725)tCc>tAc	p.S575Y	SDK1_ENST00000389531.3_Missense_Mutation_p.S575Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	575	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATCGGACGTCCATCGTCCAC	0.552																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1723-1725)tCc>tAc		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							89.0	77.0	81.0					7																	4011107		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4011107C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1724C>A	7.37:g.4011107C>A	ENSP00000385899:p.Ser575Tyr						p.S575Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1863	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	575			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1724C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.913799	0.00503	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61392	0.11;0.13	5.35	-0.546	0.11840	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.032200	0.07673	N	0.935756	T	0.55924	0.1951	L	0.50333	1.59	0.09310	N	1	B	0.33883	0.43	B	0.39771	0.309	T	0.55192	-0.8179	10	0.56958	D	0.05	.	11.1674	0.48552	0.0:0.4934:0.0:0.5066	.	575	Q7Z5N4	SDK1_HUMAN	Y	575	ENSP00000385899:S575Y;ENSP00000374182:S575Y	ENSP00000374182:S575Y	S	+	2	0	SDK1	3977633	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	0.035000	0.13797	-0.030000	0.13804	-0.302000	0.09304	TCC		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
IKZF1	10320	broad.mit.edu	37	7	50468038	50468038	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:50468038G>A	ENST00000331340.3	+	8	1428	c.1273G>A	c.(1273-1275)Ggg>Agg	p.G425R	IKZF1_ENST00000349824.4_Missense_Mutation_p.G282R|IKZF1_ENST00000346667.4_Missense_Mutation_p.G195R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Missense_Mutation_p.G338R|IKZF1_ENST00000439701.1_Missense_Mutation_p.G383R|IKZF1_ENST00000438033.1_Missense_Mutation_p.G338R|IKZF1_ENST00000343574.5_Missense_Mutation_p.G338R|IKZF1_ENST00000359197.5_Missense_Mutation_p.G383R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683). {ECO:0000305}.	B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCGCGCAACGGGCTGTCGCT	0.677			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.4				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1273-1275)Ggg>Agg		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							30.0	36.0	34.0					7																	50468038		2158	4249	6407	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468038G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1273G>A	7.37:g.50468038G>A	ENSP00000331614:p.Gly425Arg					IKZF1_uc022acq.1_Missense_Mutation_p.G282R|IKZF1_uc003tpa.4_Missense_Mutation_p.G190R|IKZF1_uc022acr.1_Missense_Mutation_p.G200R|IKZF1_uc022acs.1_Missense_Mutation_p.G155R|IKZF1_uc022act.1_Missense_Mutation_p.G328R|IKZF1_uc022acu.1_Missense_Mutation_p.G338R|IKZF1_uc003tox.4_Missense_Mutation_p.G383R|IKZF1_uc022acv.1_Missense_Mutation_p.G286R|IKZF1_uc022acw.1_Missense_Mutation_p.G296R|IKZF1_uc022acx.1_Missense_Mutation_p.G338R|IKZF1_uc022acy.1_Missense_Mutation_p.G232R|IKZF1_uc022acz.1_Missense_Mutation_p.G242R|IKZF1_uc011kck.2_Missense_Mutation_p.G338R|IKZF1_uc003toy.4_Missense_Mutation_p.G383R|IKZF1_uc003toz.4_Missense_Mutation_p.G395R|IKZF1_uc010kyx.3_Missense_Mutation_p.G165R	p.G425R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1428	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	425	PHARNGL -> RRAQRV (in Ref. 2; AAB50683).				A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205721	0.39003	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.05786	4.75;3.39;3.46;4.47;3.57;3.47;3.39;3.46	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.896;1.0;0.998;1.0	T	0.02437	-1.1159	9	0.23891	T	0.37	-18.1057	16.2319	0.82347	0.0:0.0:0.8661:0.1339	.	338;195;338;383;425	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	R	195;338;383;282;338;425;338;383	ENSP00000340080:G195R;ENSP00000342750:G338R;ENSP00000352123:G383R;ENSP00000342485:G282R;ENSP00000349928:G338R;ENSP00000331614:G425R;ENSP00000396554:G338R;ENSP00000413025:G383R	ENSP00000331614:G425R	G	+	1	0	IKZF1	50435532	1.000000	0.71417	0.970000	0.41538	0.048000	0.14542	9.789000	0.99068	1.414000	0.47017	-0.175000	0.13238	GGG		0.677	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
VSTM2A	222008	broad.mit.edu	37	7	54636702	54636702	+	Splice_Site	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:54636702G>C	ENST00000407838.3	+	5	1041	c.635G>C	c.(634-636)gGt>gCt	p.G212A	VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000498834.1_Intron|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000402613.3_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	212						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCTTCCGCAGGTGCGAGGATA	0.383																																						uc010kzf.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.e5-1		Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.							173.0	160.0	164.0					7																	54636702		1878	4101	5979	SO:0001630	splice_region_variant	222008					extracellular region		g.chr7:54636702G>C	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.635-1G>C	7.37:g.54636702G>C						AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	p.G212_splice	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		5	1040	+			212					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.635_splice	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656080	0.29425	.	.	ENSG00000170419	ENST00000407838	T	0.46451	0.87	6.09	6.09	0.99107	.	.	.	.	.	T	0.30727	0.0774	N	0.21142	0.635	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.07366	-1.0776	8	.	.	.	.	16.195	0.82021	0.0:0.0:1.0:0.0	.	212	Q8TAG5	VTM2A_HUMAN	A	212	ENSP00000384967:G212A	.	G	+	2	0	VSTM2A	54604196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.050000	0.76620	2.899000	0.99337	0.655000	0.94253	GGT		0.383	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	Missense_Mutation
CALCR	799	broad.mit.edu	37	7	93106887	93106887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:93106887G>A	ENST00000394441.1	-	4	614	c.299C>T	c.(298-300)cCg>cTg	p.P100L	CALCR_ENST00000360249.4_Missense_Mutation_p.P100L|CALCR_ENST00000426151.1_Missense_Mutation_p.P100L|CALCR_ENST00000359558.2_Missense_Mutation_p.P118L|CALCR_ENST00000421592.1_Missense_Mutation_p.P100L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	118					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATCAAAATCCGGAAAATAATC	0.413																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(352-354)cCg>cTg		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						87.0	79.0	82.0					7																	93106887		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106887G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.299C>T	7.37:g.93106887G>A	ENSP00000377959:p.Pro100Leu					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	p.P118L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	653	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		100					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.353C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006326	0.07773	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.06	4.06	0.47325	.	.	.	.	.	T	0.41696	0.1170	L	0.50847	1.595	0.50039	D	0.999843	P;B	0.35411	0.5;0.055	B;B	0.26517	0.066;0.07	T	0.36237	-0.9756	9	0.10636	T	0.68	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	118;100	F5H605;A4D1G6	.;.	L	118;100;100;100;100;100	ENSP00000352561:P118L;ENSP00000353385:P100L;ENSP00000399552:P100L;ENSP00000377959:P100L;ENSP00000389295:P100L	ENSP00000352561:P118L	P	-	2	0	CALCR	92944823	0.028000	0.19301	0.941000	0.38009	0.019000	0.09904	0.966000	0.29331	2.544000	0.85801	0.557000	0.71058	CCG		0.413	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
ZAN	7455	broad.mit.edu	37	7	100357434	100357434	+	RNA	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:100357434G>A	ENST00000348028.3	+	0	3827				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGCCCGAGAGCACCGTCACC	0.602																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(3661-3663)aGc>aAc		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							40.0	43.0	42.0					7																	100357434		2097	4220	6317			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100357434G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100357434G>A						ZAN_uc003uwk.3_Missense_Mutation_p.S1221N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	p.S1221N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		17	3827	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1221			VWFD 1.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3662G>A		.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276834	0.05679	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.59083	0.29;0.29;0.29	4.23	1.25	0.21368	von Willebrand factor, type D domain (3);	0.750729	0.11395	N	0.568414	T	0.40015	0.1100	L	0.31420	0.93	0.09310	N	0.999997	B;B	0.20780	0.039;0.048	B;B	0.25291	0.035;0.059	T	0.27054	-1.0085	10	0.23891	T	0.37	.	4.3196	0.11011	0.0:0.5775:0.189:0.2336	.	1221;1221	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1221	ENSP00000445943:S1221N;ENSP00000445091:S1221N;ENSP00000444427:S1221N	ENSP00000423579:S1221N	S	+	2	0	ZAN	100195370	0.027000	0.19231	0.001000	0.08648	0.013000	0.08279	0.237000	0.17985	0.113000	0.18004	-0.255000	0.11280	AGC		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
CPED1	79974	broad.mit.edu	37	7	120655897	120655897	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:120655897A>G	ENST00000310396.5	+	3	895	c.428A>G	c.(427-429)gAa>gGa	p.E143G	CPED1_ENST00000450913.2_Missense_Mutation_p.E143G|CPED1_ENST00000340646.5_Missense_Mutation_p.E143G|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	143						endoplasmic reticulum (GO:0005783)											GGGCTACTAGAACAAGGTCAG	0.423																																						uc003vjq.4																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66						c.(427-429)gAa>gGa		Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.							48.0	39.0	42.0					7																	120655897		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120655897A>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.428A>G	7.37:g.120655897A>G	ENSP00000309772:p.Glu143Gly					C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.4_Missense_Mutation_p.E143G	p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	875	+	all_neural(327;0.117)		143					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.428A>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413991	0.11870	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.84	2.04	0.26737	.	0.979102	0.08396	N	0.952112	T	0.47414	0.1444	L	0.47716	1.5	0.21762	N	0.99955	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.37033	-0.9723	10	0.41790	T	0.15	.	4.5661	0.12187	0.6562:0.1631:0.1807:0.0	.	143;143	A4D0V7-2;A4D0V7	.;CG058_HUMAN	G	143	ENSP00000309772:E143G;ENSP00000398082:E143G;ENSP00000406122:E143G;ENSP00000345235:E143G	ENSP00000309772:E143G	E	+	2	0	C7orf58	120443133	0.266000	0.24112	0.382000	0.26119	0.286000	0.27126	0.399000	0.20916	0.094000	0.17404	0.482000	0.46254	GAA		0.423	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
KDM7A	80853	broad.mit.edu	37	7	139826573	139826573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:139826573A>T	ENST00000397560.2	-	6	849	c.752T>A	c.(751-753)gTg>gAg	p.V251E	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V251E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		251	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTTTCCACCCAGGAAAG	0.378																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(751-753)gTg>gAg		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.							84.0	79.0	81.0					7																	139826573		1818	4082	5900	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139826573A>T																												ENST00000397560.2:c.752T>A	7.37:g.139826573A>T	ENSP00000380692:p.Val251Glu						p.V251E	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			5	756	-	Melanoma(164;0.0142)		251			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.752T>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879666	0.91740	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.71698	-0.59;-0.59	5.9	5.9	0.94986	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91256	0.5033	10	0.87932	D	0	-14.7119	16.315	0.82915	1.0:0.0:0.0:0.0	.	251	Q6ZMT4	KDM7_HUMAN	E	251	ENSP00000380692:V251E;ENSP00000006967:V251E	ENSP00000006967:V251E	V	-	2	0	JHDM1D	139473042	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	2.250000	0.74265	0.533000	0.62120	GTG		0.378	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
PRSS3P2	154754	broad.mit.edu	37	7	142482278	142482278	+	RNA	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142482278T>C	ENST00000603901.1	+	0	658					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGGCTATGGCTGTGCCCAGAA	0.517																																						uc011ksq.2																			0											c.(658-660)Tgt>Cgt		Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																																						154754							g.chr7:142482278T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482278T>C						TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron	p.C220R							4	741	+									Missense_Mutation	SNP	ENST00000603901.1	37	c.658T>C																																																																																					0.517	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
GSTK1	373156	broad.mit.edu	37	7	142964771	142964771	+	Missense_Mutation	SNP	C	C	T	rs41275042	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142964771C>T	ENST00000358406.5	+	6	553	c.482C>T	c.(481-483)aCg>aTg	p.T161M	GSTK1_ENST00000409500.3_Missense_Mutation_p.T149M|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.T118M|GSTK1_ENST00000479303.1_Missense_Mutation_p.T217M	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	161					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAGATCGCAACGCCAAAGGTG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		19423	0.0		0.001	False		,,,				2504	0.001					uc003wci.3																			0				lung(4)	4						c.(481-483)aCg>aTg		Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glutathione(DB00143)	C	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	139.0	127.0	131.0		650,446,353,482	5.3	0.1	7	dbSNP_127	131	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense	GSTK1	NM_001143679.1,NM_001143680.1,NM_001143681.1,NM_015917.2	81,81,81,81	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging	217/283,149/215,118/184,161/227	142964771	7,12999	2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142964771C>T		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.482C>T	7.37:g.142964771C>T	ENSP00000351181:p.Thr161Met					GSTK1_uc011ksy.2_Missense_Mutation_p.T118M|GSTK1_uc003wcj.3_Missense_Mutation_p.T217M|GSTK1_uc011ksz.2_Missense_Mutation_p.T149M	p.T161M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN			5	567	+	Melanoma(164;0.059)		161					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.482C>T	CCDS5877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.77	3.215603	0.58452	4.54E-4	5.81E-4	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.28	5.28	0.74379	Protein disulphide isomerase, central domain (1);DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.151776	0.64402	D	0.000017	T	0.64316	0.2587	M	0.78049	2.395	0.09310	N	1	D;D;D;D	0.76494	0.998;0.995;0.999;0.994	P;P;D;P	0.62955	0.819;0.901;0.909;0.721	T	0.61013	-0.7148	9	0.72032	D	0.01	-17.4483	9.994	0.41887	0.0:0.9083:0.0:0.0917	rs41275042	149;118;217;161	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	M	149;118;161;217	.	ENSP00000351181:T161M	T	+	2	0	GSTK1	142674893	0.014000	0.17966	0.135000	0.22099	0.107000	0.19398	2.020000	0.41010	2.494000	0.84150	0.549000	0.68633	ACG		0.512	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917	
NOBOX	135935	broad.mit.edu	37	7	144098495	144098495	+	Missense_Mutation	SNP	C	C	T	rs558507338		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:144098495C>T	ENST00000467773.1	-	4	487	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R78H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R163H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	163					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGG	0.627																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(487-489)cGc>cAc		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							20.0	23.0	22.0					7																	144098495		1865	4084	5949	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098495C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.488G>A	7.37:g.144098495C>T	ENSP00000419457:p.Arg163His						p.R163H	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	488	-	Melanoma(164;0.14)		163					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.488G>A		.	.	.	.	.	.	.	.	.	.	C	13.07	2.126491	0.37533	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94376	-3.06;-3.41;-2.98	3.77	2.79	0.32731	.	2.097640	0.02878	U	0.132534	D	0.85435	0.5696	N	0.14661	0.345	0.09310	N	1	P	0.42973	0.796	B	0.32393	0.145	T	0.80279	-0.1449	10	0.51188	T	0.08	-0.0153	7.9025	0.29742	0.2458:0.7542:0.0:0.0	.	163	O60393	NOBOX_HUMAN	H	163;163;78	ENSP00000419565:R163H;ENSP00000419457:R163H;ENSP00000223140:R78H	ENSP00000223140:R78H	R	-	2	0	NOBOX	143729428	0.063000	0.20901	0.047000	0.18901	0.013000	0.08279	0.439000	0.21575	2.101000	0.63845	0.561000	0.74099	CGC		0.627	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
AGAP3	116988	broad.mit.edu	37	7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T	rs372948404		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:150840441C>T	ENST00000463381.1	+	15	1790	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	AGAP3_ENST00000397238.2_Missense_Mutation_p.R763C	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	727	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R763C(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGAAGGAACGCTGGATACG	0.617																																						uc003wjg.1																			1	Substitution - Missense(1)	p.R763C(2)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2287-2289)Cgc>Tgc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.		C	CYS/ARG	1,4215		0,1,2107	48.0	54.0	52.0		2287	4.4	1.0	7		52	1,8481		0,1,4240	no	missense	AGAP3	NM_031946.4	180	0,2,6347	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	763/912	150840441	2,12696	2108	4241	6349	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840441C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1294C>T	7.37:g.150840441C>T	ENSP00000418016:p.Arg432Cys					AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	p.R763C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2290	+			727					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2287C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.034843	0.75617	2.37E-4	1.18E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.44881	0.91;0.91	5.28	4.4	0.53042	.	0.300824	0.37304	N	0.002143	T	0.64103	0.2568	M	0.87547	2.89	0.80722	D	1	D;D;D;B	0.65815	0.995;0.989;0.994;0.06	P;P;P;B	0.58820	0.846;0.67;0.799;0.013	T	0.72228	-0.4354	10	0.87932	D	0	.	13.3045	0.60345	0.0:0.9242:0.0:0.0758	.	727;262;763;432	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	C	432;262;763;727	ENSP00000418016:R432C;ENSP00000380413:R763C	ENSP00000334157:R727C	R	+	1	0	AGAP3	150471374	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.192000	0.50989	1.458000	0.47871	0.655000	0.94253	CGC		0.617	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
RBM33	155435	broad.mit.edu	37	7	155538204	155538204	+	Missense_Mutation	SNP	G	G	T	rs371777379		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:155538204G>T	ENST00000401878.3	+	14	3085	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	963							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGCCTGGCGTGAAAAGGAC	0.602																																						uc010lqk.1																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2887-2889)Gtg>Ttg		Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.							41.0	39.0	40.0					7																	155538204		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155538204G>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2887G>T	7.37:g.155538204G>T	ENSP00000384160:p.Val963Leu					RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	p.V963L	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	3255	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	963					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2887G>T	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227253	0.58668	.	.	ENSG00000184863	ENST00000401878	T	0.46063	0.88	5.63	3.81	0.43845	.	0.471857	0.19435	N	0.114324	T	0.33760	0.0874	L	0.46157	1.445	0.28495	N	0.914295	B;P	0.43542	0.001;0.81	B;B	0.40702	0.005;0.338	T	0.22765	-1.0207	10	0.45353	T	0.12	.	6.044	0.19750	0.2124:0.1388:0.6488:0.0	.	680;963	B4DVQ2;Q96EV2	.;RBM33_HUMAN	L	963	ENSP00000384160:V963L	ENSP00000384160:V963L	V	+	1	0	RBM33	155230965	0.987000	0.35691	0.794000	0.32065	0.977000	0.68977	2.402000	0.44521	0.724000	0.32296	0.655000	0.94253	GTG		0.602	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	
RB1CC1	9821	broad.mit.edu	37	8	53571454	53571454	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr8:53571454G>A	ENST00000025008.5	-	13	2295	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S591L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S591L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	591					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGAACTTCCGAAGGACAAAA	0.323																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1771-1773)tCg>tTg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							35.0	36.0	36.0					8																	53571454		2203	4297	6500	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53571454G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1772C>T	8.37:g.53571454G>A	ENSP00000025008:p.Ser591Leu					RB1CC1_uc003xrf.4_Missense_Mutation_p.S591L	p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			12	2330	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	591					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1772C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681823	0.47991	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14766	2.48;2.48;2.48	5.02	4.14	0.48551	.	0.272646	0.31797	N	0.007042	T	0.13030	0.0316	L	0.51422	1.61	0.41456	D	0.988014	P;P	0.42757	0.789;0.685	B;B	0.31337	0.128;0.06	T	0.05402	-1.0887	10	0.66056	D	0.02	-8.3249	15.808	0.78531	0.0:0.1364:0.8636:0.0	.	591;591	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	591	ENSP00000025008:S591L;ENSP00000396067:S591L;ENSP00000445960:S591L	ENSP00000025008:S591L	S	-	2	0	RB1CC1	53734007	1.000000	0.71417	0.977000	0.42913	0.848000	0.48234	3.602000	0.54066	1.224000	0.43551	0.563000	0.77884	TCG		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
KIAA2022	340533	broad.mit.edu	37	X	73963609	73963609	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:73963609G>A	ENST00000055682.6	-	3	1394	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	261					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAAGTCTCGAAGTAACCCC	0.393																																						uc004eby.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(781-783)ttC>ttT		Homo sapiens KIAA2022 (KIAA2022), mRNA.							122.0	113.0	116.0					X																	73963609		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963609G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.783C>T	X.37:g.73963609G>A							p.F261F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	1400	-			261					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.783C>T	CCDS35337.1																																																																																				0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
NRK	203447	broad.mit.edu	37	X	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:105152945C>T	ENST00000243300.9	+	13	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_ENST00000428173.2_Nonsense_Mutation_p.R439*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	438	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1312-1314)Cga>Tga		Homo sapiens Nik related kinase (NRK), mRNA.							39.0	41.0	40.0					X																	105152945		2056	4168	6224	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152945C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1312C>T	X.37:g.105152945C>T	ENSP00000434830:p.Arg438*	HNSCC(51;0.14)				NRK_uc010npc.1_Nonsense_Mutation_p.R106*	p.R438*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			12	1615	+			438			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.1312C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.343265	0.98224	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.49	1.58	0.23477	.	0.557677	0.14978	N	0.287426	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2705	0.20951	0.32:0.5859:0.0:0.0941	.	.	.	.	X	438;439	.	ENSP00000434830:R438X	R	+	1	2	NRK	105039601	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.256000	0.08757	0.188000	0.20168	0.600000	0.82982	CGA		0.557	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
SH2D1A	4068	broad.mit.edu	37	X	123504148	123504149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:123504148_123504149insA	ENST00000371139.4	+	3	623_624	c.324_325insA	c.(325-327)agafs	p.R109fs	SH2D1A_ENST00000360027.4_Frame_Shift_Ins_p.R109fs|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_3'UTR|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	109					cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTCCTCAGCTAGAAGTACACA	0.371																																						uc004euf.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(322-327)gctagafs		Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504148_123504149insA	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.325dupA	X.37:g.123504149_123504149dupA	ENSP00000360181:p.Arg109fs					SH2D1A_uc004euh.4_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	p.A108fs	NM_002351	NP_002342	O60880	SH21A_HUMAN			2	685_686	+			108					A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Frame_Shift_Ins	INS	ENST00000371139.4	37	c.324_325insA	CCDS14608.1																																																																																				0.371	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351	
