#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
WRAP73	49856	broad.mit.edu	37	1	3548093	3548093	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:3548093C>T	ENST00000270708.7	-	11	1250	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	WRAP73_ENST00000378322.3_Missense_Mutation_p.G393R	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	393						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGCTGCCTCCCGTGCAGATG	0.667																																						uc001ako.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1177-1179)Gga>Aga		Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.							20.0	21.0	21.0					1																	3548093		2200	4295	6495	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3548093C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1177G>A	1.37:g.3548093C>T	ENSP00000270708:p.Gly393Arg					WRAP73_uc001akn.3_Missense_Mutation_p.G393R	p.G393R	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN			10	1285	-			393					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.1177G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106498	0.77096	.	.	ENSG00000116213	ENST00000270708;ENST00000378322	T;T	0.05580	3.42;3.42	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.08207	-1.0733	10	0.28530	T	0.3	-23.131	18.2801	0.90096	0.0:1.0:0.0:0.0	.	393	Q9P2S5	WRP73_HUMAN	R	393	ENSP00000270708:G393R;ENSP00000367573:G393R	ENSP00000270708:G393R	G	-	1	0	WRAP73	3537953	1.000000	0.71417	0.169000	0.22859	0.844000	0.47949	7.154000	0.77437	2.561000	0.86390	0.655000	0.94253	GGA		0.667	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1		
OMA1	115209	broad.mit.edu	37	1	58946683	58946683	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:58946683T>C	ENST00000371226.3	-	9	1642	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	510					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGGTATTTGCTCCTGTTTTTG	0.328																																						uc001cyy.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(1528-1530)gAg>gGg		Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.							166.0	152.0	157.0					1																	58946683		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58946683T>C	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1529A>G	1.37:g.58946683T>C	ENSP00000360270:p.Glu510Gly					DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	p.E510G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN			8	1617	-	all_cancers(7;6.54e-05)		510					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.1529A>G	CCDS608.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029681	0.35797	.	.	ENSG00000162600	ENST00000371226	T	0.18174	2.23	4.47	4.47	0.54385	.	0.351665	0.24441	N	0.038512	T	0.11196	0.0273	N	0.19112	0.55	0.80722	D	1	B	0.30793	0.295	B	0.27608	0.081	T	0.09314	-1.0680	10	0.72032	D	0.01	-3.6528	10.3122	0.43714	0.0:0.0:0.0:1.0	.	510	Q96E52	OMA1_HUMAN	G	510	ENSP00000360270:E510G	ENSP00000360270:E510G	E	-	2	0	OMA1	58719271	0.999000	0.42202	1.000000	0.80357	0.458000	0.32498	2.671000	0.46842	2.016000	0.59253	0.477000	0.44152	GAG		0.328	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
GJA8	2703	broad.mit.edu	37	1	147380346	147380346	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:147380346G>A	ENST00000369235.1	+	1	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P	GJA8_ENST00000240986.4_Silent_p.P88P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	88			P -> S (in CTRCT1; zonular pulverulent). {ECO:0000269|PubMed:9497259}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTCCACCCCGTCCCTGATGT	0.642																																					Melanoma(76;1255 1795 8195 52096)	uc021ovm.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(262-264)ccG>ccA		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							123.0	97.0	106.0					1																	147380346		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380346G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.264G>A	1.37:g.147380346G>A						GJA8_uc001epu.2_Silent_p.P88P	p.P88P	NM_005267	NP_005258	P48165	CXA8_HUMAN			0	264	+	all_hematologic(923;0.0276)		88		P -> S (in CZP1).			A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.264G>A	CCDS30834.1																																																																																				0.642	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
LAMB3	3914	broad.mit.edu	37	1	209803992	209803992	+	Missense_Mutation	SNP	G	G	A	rs114394307	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:209803992G>A	ENST00000356082.4	-	9	1045	c.911C>T	c.(910-912)cCg>cTg	p.P304L	LAMB3_ENST00000367030.3_Missense_Mutation_p.P304L|LAMB3_ENST00000391911.1_Missense_Mutation_p.P304L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	304	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCCCTCCGCCGGTCTCCAGGG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		17475	0.001		0.001	False		,,,				2504	0.0					uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(910-912)cCg>cTg		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	51.0	53.0	52.0		911,911,911	4.9	1.0	1	dbSNP_132	52	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	98,98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	304/1173,304/1173,304/1173	209803992	3,13003	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803992G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.911C>T	1.37:g.209803992G>A	ENSP00000348384:p.Pro304Leu					LAMB3_uc009xco.3_Missense_Mutation_p.P304L|LAMB3_uc001hhh.3_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	p.P304L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	7	1301	-			304			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.911C>T	CCDS1487.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	26.6	4.751562	0.89753	0.0	3.49E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.95	0.65309	EGF-like, laminin (4);	0.058255	0.64402	D	0.000001	T	0.81851	0.4910	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67548	0.952;0.921	D	0.87026	0.2132	10	0.72032	D	0.01	.	18.2272	0.89921	0.0:0.0:1.0:0.0	.	304;304	B4DL55;Q13751	.;LAMB3_HUMAN	L	304	ENSP00000375778:P304L;ENSP00000348384:P304L;ENSP00000355997:P304L	ENSP00000348384:P304L	P	-	2	0	LAMB3	207870615	1.000000	0.71417	0.995000	0.50966	0.783000	0.44284	8.862000	0.92283	2.474000	0.83562	0.650000	0.86243	CCG		0.622	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
RYR2	6262	broad.mit.edu	37	1	237774131	237774131	+	Missense_Mutation	SNP	C	C	T	rs528206995		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:237774131C>T	ENST00000366574.2	+	36	5070	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1569C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1583C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1585	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCCCCGCGCCTCCACGT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16428	0.0		0.0	False		,,,				2504	0.0					uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4753-4755)Cgc>Tgc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							50.0	52.0	51.0					1																	237774131		1950	4124	6074	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774131C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4753C>T	1.37:g.237774131C>T	ENSP00000355533:p.Arg1585Cys						p.R1585C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		35	4873	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1585			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4753C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244925	0.79912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98345	-4.88;-4.86;-4.87	5.24	5.24	0.73138	.	0.192154	0.30501	N	0.009495	D	0.99029	0.9668	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.99709	1.1006	10	0.87932	D	0	.	19.0203	0.92912	0.0:1.0:0.0:0.0	.	1585	Q92736	RYR2_HUMAN	C	1585;1583;1569	ENSP00000355533:R1585C;ENSP00000353174:R1583C;ENSP00000443798:R1569C	ENSP00000353174:R1583C	R	+	1	0	RYR2	235840754	0.991000	0.36638	0.796000	0.32109	0.952000	0.60782	2.931000	0.48932	2.715000	0.92844	0.655000	0.94253	CGC		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ITIH5	80760	broad.mit.edu	37	10	7679260	7679260	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:7679260C>T	ENST00000256861.6	-	5	661	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	ITIH5_ENST00000397145.2_Missense_Mutation_p.A195T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A195T|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCGATGCCCGCGCTCTCCAGG	0.662																																						uc021pmv.1																			0		p.A195V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(583-585)Gcg>Acg		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.							69.0	70.0	70.0					10																	7679260		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679260C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.583G>A	10.37:g.7679260C>T	ENSP00000256861:p.Ala195Thr					ITIH5_uc001ijr.2_Missense_Mutation_p.A195T	p.A195T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			4	689	-			195					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.583G>A		.	.	.	.	.	.	.	.	.	.	C	0.026	-1.370923	0.01225	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02446	4.83;4.29;4.29	5.88	0.627	0.17675	.	0.346115	0.34959	N	0.003556	T	0.01489	0.0048	.	.	.	0.09310	N	0.999996	B;P	0.43750	0.057;0.816	B;B	0.31101	0.062;0.124	T	0.53872	-0.8377	9	0.27785	T	0.31	-3.3728	6.7379	0.23419	0.594:0.2743:0.1317:0.0	.	195;195	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	195	ENSP00000256861:A195T;ENSP00000380333:A195T;ENSP00000380332:A195T	ENSP00000256861:A195T	A	-	1	0	ITIH5	7719266	0.878000	0.30173	0.002000	0.10522	0.002000	0.02628	1.462000	0.35266	0.127000	0.18452	-0.274000	0.10170	GCG		0.662	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
C10orf54	64115	broad.mit.edu	37	10	73521395	73521395	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:73521395C>G	ENST00000394957.3	-	2	529	c.471G>C	c.(469-471)gaG>gaC	p.E157D	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	157	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGACCCTGTGCTCCGAGTGGT	0.617																																						uc001jsd.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(469-471)gaG>gaC		Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.							42.0	35.0	37.0					10																	73521395		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521395C>G	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.471G>C	10.37:g.73521395C>G	ENSP00000378409:p.Glu157Asp					CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.E25D	p.E157D	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			1	612	-			157			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.471G>C	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971255	0.74246	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.47177	0.85	5.75	4.84	0.62591	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.373115	0.32935	N	0.005478	T	0.60090	0.2242	M	0.65975	2.015	0.40851	D	0.983755	D;P	0.60575	0.988;0.92	P;P	0.58721	0.844;0.551	T	0.63883	-0.6536	10	0.54805	T	0.06	-12.9211	11.0598	0.47940	0.0:0.8497:0.0:0.1503	.	153;157	Q2TA85;Q9H7M9	.;GI24_HUMAN	D	157;153	ENSP00000378409:E157D	ENSP00000263569:E153D	E	-	3	2	C10orf54	73191401	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	2.306000	0.43673	1.408000	0.46895	0.655000	0.94253	GAG		0.617	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153	
KCNQ1	3784	broad.mit.edu	37	11	2592573	2592573	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:2592573C>T	ENST00000155840.5	+	4	731	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A81V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	208					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTGGTCGTGGCCTCCATGGTG	0.652																																						uc001lwn.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(622-624)gCc>gTc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	Bepridil(DB01244)|Indapamide(DB00808)						140.0	110.0	120.0					11																	2592573		2201	4299	6500	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2592573C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.623C>T	11.37:g.2592573C>T	ENSP00000155840:p.Ala208Val					KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.A81V	p.A208V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	3	731	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	208					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.623C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611424	0.87258	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97328	-4.34;-4.34;-4.34	4.46	3.53	0.40419	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	L	0.60067	1.865	0.58432	D	0.999994	D;D	0.76494	0.999;0.991	D;P	0.77557	0.99;0.903	D	0.98057	1.0391	10	0.87932	D	0	-45.8507	13.4877	0.61375	0.0:0.8416:0.1584:0.0	.	81;208	Q14D14;P51787	.;KCNQ1_HUMAN	V	121;208;81	ENSP00000434560:A121V;ENSP00000155840:A208V;ENSP00000334497:A81V	ENSP00000155840:A208V	A	+	2	0	KCNQ1	2549149	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.342000	0.59341	1.204000	0.43247	0.491000	0.48974	GCC		0.652	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	
LDHAL6A	160287	broad.mit.edu	37	11	18487327	18487327	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:18487327C>G	ENST00000280706.2	+	3	1185	c.388C>G	c.(388-390)Cac>Gac	p.H130D	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.H130D	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	130					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GTACAGTCCTCACTGCAAACT	0.383																																						uc001mop.1																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(388-390)Cac>Gac		Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	NADH(DB00157)						124.0	126.0	126.0					11																	18487327		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18487327C>G	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.388C>G	11.37:g.18487327C>G	ENSP00000280706:p.His130Asp					LDHAL6A_uc001moq.2_Missense_Mutation_p.H130D	p.H130D	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN			3	649	+			130					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.388C>G	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.832251	0.00070	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.86769	-2.17;-2.17	3.83	-4.06	0.03986	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.395025	0.22962	U	0.053539	T	0.36908	0.0984	N	0.00038	-2.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63677	-0.6583	10	0.02654	T	1	.	0.5795	0.00709	0.2826:0.1942:0.1278:0.3955	.	130	Q6ZMR3	LDH6A_HUMAN	D	130	ENSP00000379516:H130D;ENSP00000280706:H130D	ENSP00000280706:H130D	H	+	1	0	LDHAL6A	18443903	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.704000	0.05058	-0.615000	0.05679	-0.225000	0.12378	CAC		0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972	
ANO5	203859	broad.mit.edu	37	11	22215065	22215065	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:22215065G>A	ENST00000324559.8	+	1	344	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	9					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGAAGTGTTGGCGGAGG	0.667																																						uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(25-27)gtG>gtA		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							55.0	46.0	49.0					11																	22215065		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22215065G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.27G>A	11.37:g.22215065G>A						ANO5_uc001mqj.2_Silent_p.V9V	p.V9V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			0	344	+			9						Silent	SNP	ENST00000324559.8	37	c.27G>A	CCDS31444.1																																																																																				0.667	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
CKAP5	9793	broad.mit.edu	37	11	46801800	46801800	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:46801800A>G	ENST00000529230.1	-	20	2423	c.2377T>C	c.(2377-2379)Ttc>Ctc	p.F793L	CKAP5_ENST00000312055.5_Missense_Mutation_p.F793L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F793L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F793L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	793					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCCTCAAAGAACATTCGCAAA	0.428																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.2																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2377-2379)Ttc>Ctc		Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.							85.0	80.0	81.0					11																	46801800		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46801800A>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2377T>C	11.37:g.46801800A>G	ENSP00000432768:p.Phe793Leu					CKAP5_uc009ylg.1_Missense_Mutation_p.F679L|CKAP5_uc001ndj.2_Missense_Mutation_p.F793L|Metazoa_SRP_uc021qiq.1_5'Flank	p.F793L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			19	2503	-			793					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2377T>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521829	0.64747	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.61	4.46	0.54185	Armadillo-type fold (1);	0.044386	0.85682	D	0.000000	T	0.50956	0.1646	L	0.38733	1.17	0.58432	D	0.999998	B;B;B	0.25563	0.003;0.129;0.079	B;B;B	0.29598	0.004;0.104;0.048	T	0.38023	-0.9680	10	0.20519	T	0.43	-9.4484	11.6467	0.51265	0.863:0.0:0.0:0.137	.	793;793;793	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	793	ENSP00000432768:F793L;ENSP00000395302:F793L;ENSP00000310227:F793L;ENSP00000346566:F793L	ENSP00000310227:F793L	F	-	1	0	CKAP5	46758376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.358000	0.79466	0.909000	0.36697	0.533000	0.62120	TTC		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
OR4C3	256144	broad.mit.edu	37	11	48346804	48346804	+	Silent	SNP	T	T	C	rs200552736		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:48346804T>C	ENST00000319856.4	+	1	333	c.312T>C	c.(310-312)ccT>ccC	p.P104P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTATGGCTCCTAAACTCATTG	0.463																																						uc010rhv.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(310-312)ccT>ccC		Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.							196.0	185.0	189.0					11																	48346804		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346804T>C	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.312T>C	11.37:g.48346804T>C							p.P104P	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			0	312	+			77					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.312T>C	CCDS31489.1																																																																																				0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
OR10V1	390201	broad.mit.edu	37	11	59480721	59480721	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:59480721G>A	ENST00000307552.2	-	1	616	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGATATACAGAGCAGTCTTG	0.498																																						uc001nof.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(598-600)Ctg>Ttg		Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.							108.0	92.0	98.0					11																	59480721		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480721G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.598C>T	11.37:g.59480721G>A							p.L200L	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			0	598	-			200					Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.598C>T	CCDS31565.1																																																																																				0.498	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324	
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2776-2778)gaafs		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	p.E926fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN			10	3063_3064	-			926			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.2776_2777delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
USP15	9958	broad.mit.edu	37	12	62777954	62777954	+	Silent	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr12:62777954T>C	ENST00000280377.5	+	11	1402	c.1344T>C	c.(1342-1344)tgT>tgC	p.C448C	USP15_ENST00000393654.3_Silent_p.C423C|USP15_ENST00000353364.3_Silent_p.C419C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	448	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTTTAGTTTGTCCTGAGTGTG	0.358																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0		p.L447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1342-1344)tgT>tgC		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.							110.0	104.0	106.0					12																	62777954		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777954T>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1344T>C	12.37:g.62777954T>C						USP15_uc001srb.2_Silent_p.C419C	p.C448C	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1419	+			448					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1344T>C	CCDS58251.1																																																																																				0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
CTAGE11P	647288	broad.mit.edu	37	13	75814355	75814355	+	IGR	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr13:75814355C>G								AL162571.1 (31182 upstream) : LINC01078 (10260 downstream)																							CACCAGTTCCCATGGAAAACC	0.488																																						uc010ths.2																			0											c.(121-123)tGg>tCg		Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																																				SO:0001628	intergenic_variant	647288							g.chr13:75814355C>G																													13.37:g.75814355C>G							p.W41S							0	163	-									Missense_Mutation	SNP		37	c.122G>C																																																																																				0	0.488								
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													c|||	2	0.000399361	0.0015	0.0	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.0					uc021rvq.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(2101-2103)gtC>gtT		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.		T		6,4400	11.4+/-27.6	0,6,2197	81.0	74.0	77.0		2103	-2.4	0.0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70926319C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2103C>T	14.37:g.70926319C>T						ADAM21_uc001xmd.3_Silent_p.V701V	p.V701V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	0	2103	+			701					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.2103C>T	CCDS9804.1																																																																																				0.413	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ZDHHC1	29800	broad.mit.edu	37	16	67429021	67429021	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr16:67429021A>T	ENST00000348579.2	-	10	1455	c.1114T>A	c.(1114-1116)Tcg>Acg	p.S372T	TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	372					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGCAGAGGCGAGCGCCAGGGT	0.622																																						uc010vjm.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1114-1116)Tcg>Acg		Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.							22.0	24.0	23.0					16																	67429021		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429021A>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1114T>A	16.37:g.67429021A>T	ENSP00000340299:p.Ser372Thr					TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	p.S372T	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	9	1418	-		Ovarian(137;0.223)	372					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.1114T>A	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466160	0.26335	.	.	ENSG00000159714	ENST00000348579	T	0.40476	1.03	3.14	-5.23	0.02798	.	924.597000	0.00166	N	0.000000	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.13853	T	0.58	.	3.2597	0.06844	0.338:0.3549:0.0:0.3071	.	372	Q8WTX9	ZDHC1_HUMAN	T	372	ENSP00000340299:S372T	ENSP00000340299:S372T	S	-	1	0	ZDHHC1	65986522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.011000	0.00647	-1.261000	0.02462	-1.646000	0.00762	TCG		0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304	
KRTAP3-3	85293	broad.mit.edu	37	17	39150169	39150169	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr17:39150169A>G	ENST00000391586.1	-	1	216	c.181T>C	c.(181-183)Tgc>Cgc	p.C61R		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	61						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				GTGGGCACGCAGGGCTGAGGA	0.627																																						uc002hvr.1																			0		p.C61C(1)		lung(2)|prostate(2)	4						c.(181-183)Tgc>Cgc		Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.							107.0	78.0	88.0					17																	39150169		2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150169A>G	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.181T>C	17.37:g.39150169A>G	ENSP00000375428:p.Cys61Arg						p.C61R	NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN			0	217	-		Breast(137;0.00043)	61					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.181T>C	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379244	0.61735	.	.	ENSG00000212899	ENST00000391586	T	0.21543	2.0	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.45538	0.1347	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.40646	-0.9552	9	0.49607	T	0.09	.	12.2758	0.54735	1.0:0.0:0.0:0.0	.	61	Q9BYR6	KRA33_HUMAN	R	61	ENSP00000375428:C61R	ENSP00000375428:C61R	C	-	1	0	KRTAP3-3	36403695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.201000	0.58439	2.143000	0.66587	0.529000	0.55759	TGC		0.627	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1		
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	rs190733334	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		21764	0.003		0.0	False		,,,				2504	0.0					uc002knc.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(547-549)gCg>gTg		Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.							224.0	213.0	217.0					18																	6859874		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859874C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.704C>T	18.37:g.6859874C>T	ENSP00000372964:p.Ala235Val					ARHGAP28_uc002kne.3_Missense_Mutation_p.A76V|ARHGAP28_uc010wzi.2_Missense_Mutation_p.A58V|ARHGAP28_uc002knf.3_Missense_Mutation_p.A67V	p.A183V	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN			4	3759	+		Colorectal(10;0.168)	58					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.548C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
ABCA7	10347	broad.mit.edu	37	19	1042173	1042173	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:1042173C>T	ENST00000263094.6	+	5	644	c.413C>T	c.(412-414)aCg>aTg	p.T138M	ABCA7_ENST00000433129.1_Missense_Mutation_p.T138M|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	138					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGCAGCACGGGTGAGGAG	0.692																																						uc002lqw.4																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(412-414)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.							10.0	12.0	12.0					19																	1042173		2192	4257	6449	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042173C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.413C>T	19.37:g.1042173C>T	ENSP00000263094:p.Thr138Met					ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.T138M	p.T138M	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	644	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	138					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.413C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774034	0.31411	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.98602	-2.21;-5.02;-4.97;-2.21	3.46	-2.45	0.06481	.	.	.	.	.	D	0.92234	0.7537	N	0.14661	0.345	0.09310	N	1	P;P	0.49862	0.929;0.474	B;B	0.38500	0.275;0.032	D	0.88637	0.3173	9	0.33940	T	0.23	.	6.1346	0.20225	0.3192:0.3204:0.3603:0.0	.	138;138	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	M	138;138;136;138	ENSP00000263094:T138M;ENSP00000431473:T138M;ENSP00000433545:T136M;ENSP00000414062:T138M	ENSP00000263094:T138M	T	+	2	0	ABCA7	993173	0.712000	0.27916	0.000000	0.03702	0.022000	0.10575	0.854000	0.27791	-0.235000	0.09767	0.561000	0.74099	ACG		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ZNF833P	401898	broad.mit.edu	37	19	11795746	11795746	+	lincRNA	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:11795746C>G	ENST00000344893.3	+	0	1745					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GTGAAGAGATCTTCAGCCTTG	0.393																																						uc021upi.1																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5								Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.																																						401898							g.chr19:11795746C>G	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11795746C>G						ZNF833P_uc002msl.4_Non-coding_Transcript								2		+								B2RPA0	Translation_Start_Site	SNP	ENST00000344893.3	37																																																																																						0.393	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691	
ZNF833P	401898	broad.mit.edu	37	19	11796182	11796182	+	lincRNA	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:11796182C>T	ENST00000344893.3	+	0	2181					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GGAAAGCCTTCAGTTGTTCCA	0.368																																						uc021upi.1																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(121-123)tCa>tTa		Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.							54.0	58.0	57.0					19																	11796182		2203	4300	6503			401898							g.chr19:11796182C>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796182C>T						ZNF833P_uc002msl.4_Non-coding_Transcript	p.S41L							2	798	+								B2RPA0	Silent	SNP	ENST00000344893.3	37	c.122C>T																																																																																					0.368	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691	
PPM1N	147699	broad.mit.edu	37	19	46003206	46003206	+	Splice_Site	SNP	G	G	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:46003206G>C	ENST00000451287.2	+	2	939		c.e2-1		PPM1N_ENST00000396735.2_Splice_Site|RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000401593.1_5'Flank|PPM1N_ENST00000396736.2_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000401705.1_Splice_Site|PPM1N_ENST00000396737.2_Splice_Site|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000324688.4_3'UTR|RTN2_ENST00000590526.1_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)								magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCGGCTTCAGGGCAGCCTGG	0.607																																						uc002pce.3																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						c.e2-1		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.							11.0	11.0	11.0					19																	46003206		1854	4090	5944	SO:0001630	splice_region_variant	147699						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	g.chr19:46003206G>C	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.940-1G>C	19.37:g.46003206G>C						RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_Splice_Site	p.G314_splice	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN			2	940	+			314			PP2C-like.		Q6P662	Splice_Site	SNP	ENST00000451287.2	37	c.940_splice	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119849	0.56613	.	.	ENSG00000213889	ENST00000451287;ENST00000396734	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1394	0.59426	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPM1N	50695046	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	6.699000	0.74613	2.230000	0.72887	0.557000	0.71058	.		0.607	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	Intron
ZSCAN5B	342933	broad.mit.edu	37	19	56701423	56701423	+	Missense_Mutation	SNP	C	C	T	rs200971173		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:56701423C>T	ENST00000586855.2	-	5	1574	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A421T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	421					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GACTCGTGGGCGAACCGCTTT	0.567																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1261-1263)Gcc>Acc		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.		C	THR/ALA	0,4292		0,0,2146	86.0	88.0	87.0		1261	-5.0	0.0	19		87	8,8524		0,8,4258	yes	missense	ZSCAN5B	NM_001080456.2	58	0,8,6404	TT,TC,CC		0.0938,0.0,0.0624	benign	421/496	56701423	8,12816	2146	4266	6412	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701423C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1261G>A	19.37:g.56701423C>T	ENSP00000466072:p.Ala421Thr						p.A421T	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	1261	-			421						Missense_Mutation	SNP	ENST00000586855.2	37	c.1261G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114939	0.01799	0.0	9.38E-4	ENSG00000197213	ENST00000358992	T	0.07688	3.17	3.15	-5.02	0.02982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.12502	0.225	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.43814	-0.9368	9	0.02654	T	1	.	1.0637	0.01606	0.2976:0.3538:0.1499:0.1986	.	421	A6NJL1	ZSA5B_HUMAN	T	421	ENSP00000351883:A421T	ENSP00000351883:A421T	A	-	1	0	ZSCAN5B	61393235	0.001000	0.12720	0.004000	0.12327	0.046000	0.14306	-0.202000	0.09451	-1.293000	0.02362	0.306000	0.20318	GCC		0.567	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
CAD	790	broad.mit.edu	37	2	27465785	27465785	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:27465785C>A	ENST00000403525.1	+	41	6379	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	CAD_ENST00000264705.4_Missense_Mutation_p.L2142I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGATGTGCTCTACATGAC	0.582																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6424-6426)Ctc>Atc		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						74.0	72.0	73.0					2																	27465785		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465785C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6235C>A	2.37:g.27465785C>A	ENSP00000384510:p.Leu2079Ile					CAD_uc010eyw.3_Missense_Mutation_p.L2079I	p.L2142I	NM_004341	NP_004332	P27708	PYR1_HUMAN			41	6586	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2142			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6424C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.559615|4.559615	0.86335|0.86335	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.98602	.|-5.02;-5.02	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.98153	.|0.9390	L|L	0.49513|0.49513	1.565|1.565	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.69078	.|0.983;0.997	.|P;D	.|0.79108	.|0.895;0.992	.|D	.|0.98083	.|1.0405	.|10	.|0.62326	.|D	.|0.03	-23.7071|-23.7071	11.0376|11.0376	0.47811|0.47811	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	.|2079;2142	.|F8VPD4;P27708	.|.;PYR1_HUMAN	X|I	209|2142;2079	.|ENSP00000264705:L2142I;ENSP00000384510:L2079I	.|ENSP00000264705:L2142I	C|L	+|+	3|1	2|0	CAD|CAD	27319289|27319289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	5.388000|5.388000	0.66249|0.66249	2.452000|2.452000	0.82932|0.82932	0.511000|0.511000	0.50034|0.50034	TGC|CTC		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
PRKD3	23683	broad.mit.edu	37	2	37501816	37501816	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:37501816G>C	ENST00000379066.1	-	11	2161	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	PRKD3_ENST00000234179.2_Missense_Mutation_p.R467G			O94806	KPCD3_HUMAN	protein kinase D3	467	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAAGATATGCGGAGAATTTCT	0.318																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.3																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1399-1401)Cgc>Ggc		Homo sapiens protein kinase D3 (PRKD3), mRNA.							50.0	49.0	49.0					2																	37501816		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37501816G>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1399C>G	2.37:g.37501816G>C	ENSP00000368356:p.Arg467Gly					PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	p.R467G	NM_005813	NP_005804	O94806	KPCD3_HUMAN			9	1954	-		all_hematologic(82;0.21)	467			PH.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1399C>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503867	0.44558	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.21031	2.03;2.03	5.42	5.42	0.78866	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.149116	0.48767	D	0.000163	T	0.13457	0.0326	N	0.14661	0.345	0.38387	D	0.945291	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07908	-1.0748	10	0.41790	T	0.15	-6.271	12.5511	0.56227	0.0762:0.0:0.9238:0.0	.	467;467	O94806-2;O94806	.;KPCD3_HUMAN	G	467	ENSP00000368356:R467G;ENSP00000234179:R467G	ENSP00000234179:R467G	R	-	1	0	PRKD3	37355320	1.000000	0.71417	0.677000	0.29947	0.975000	0.68041	7.827000	0.86722	2.517000	0.84864	0.585000	0.79938	CGC		0.318	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
ST6GAL2	84620	broad.mit.edu	37	2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:107460204C>T	ENST00000409382.3	-	2	840	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(229-231)cGc>cAc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							17.0	22.0	20.0					2																	107460204		2144	4211	6355	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460204C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.230G>A	2.37:g.107460204C>T	ENSP00000386942:p.Arg77His					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	p.R77H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	349	-			77					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.230G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896345	0.33442	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32515	2.46;2.46;1.45	5.18	-4.98	0.03019	.	1.558860	0.03596	N	0.232558	T	0.13756	0.0333	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.26985	-1.0087	10	0.41790	T	0.15	-0.4606	8.5868	0.33664	0.0:0.4994:0.1257:0.3749	.	77;77	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	77	ENSP00000355273:R77H;ENSP00000386942:R77H;ENSP00000387332:R77H	ENSP00000355273:R77H	R	-	2	0	ST6GAL2	106826636	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.727000	0.25999	-1.007000	0.03408	-0.793000	0.03317	CGC		0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
PPIG	9360	broad.mit.edu	37	2	170493100	170493100	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:170493100A>C	ENST00000260970.3	+	14	1552	c.1332A>C	c.(1330-1332)aaA>aaC	p.K444N	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.K429N|PPIG_ENST00000448752.2_Missense_Mutation_p.K444N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	444					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTCAGAAAAAGATGACAAGT	0.313																																						uc002uez.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1330-1332)aaA>aaC		Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	L-Proline(DB00172)						46.0	48.0	47.0					2																	170493100		2183	4271	6454	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493100A>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1332A>C	2.37:g.170493100A>C	ENSP00000260970:p.Lys444Asn					PPIG_uc010fpx.3_Missense_Mutation_p.K429N|PPIG_uc010fpy.3_Missense_Mutation_p.K437N|PPIG_uc002ufb.3_Missense_Mutation_p.K444N|PPIG_uc002ufd.3_Missense_Mutation_p.K441N	p.K444N	NM_004792	NP_004783	Q13427	PPIG_HUMAN			13	1552	+			444					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1332A>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472876	0.43942	.	.	ENSG00000138398	ENST00000260970;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.24350	2.23;1.86;2.22;2.23	5.92	5.92	0.95590	.	0.055851	0.64402	D	0.000001	T	0.33847	0.0877	L	0.27053	0.805	0.42572	D	0.993181	P;P;D;P	0.63880	0.926;0.829;0.993;0.829	P;B;D;B	0.72338	0.454;0.36;0.977;0.36	T	0.23511	-1.0186	10	0.72032	D	0.01	-24.8005	7.3648	0.26766	0.783:0.1456:0.0714:0.0	.	437;429;429;444	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	N	444;437;429;444	ENSP00000260970:K444N;ENSP00000408683:K437N;ENSP00000386245:K429N;ENSP00000407083:K444N	ENSP00000260970:K444N	K	+	3	2	PPIG	170201346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.129000	0.31381	2.266000	0.75297	0.533000	0.62120	AAA		0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
KRTAP19-2	337969	broad.mit.edu	37	21	31859635	31859635	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:31859635G>T	ENST00000334055.3	-	1	120	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	11						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGCAGAAGCTGCCACATC	0.572																																						uc011acy.2																			0		p.G10S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(31-33)agC>agA		Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.							147.0	144.0	145.0					21																	31859635		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859635G>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.33C>A	21.37:g.31859635G>T	ENSP00000335660:p.Ser11Arg						p.S11R	NM_181608	NP_853639	Q3LHN2	KR192_HUMAN			0	33	-			11						Missense_Mutation	SNP	ENST00000334055.3	37	c.33C>A	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	1.161	-0.643879	0.03531	.	.	ENSG00000186965	ENST00000334055	T	0.15372	2.43	4.31	3.42	0.39159	.	0.979003	0.08356	N	0.958422	T	0.33147	0.0853	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.59546	0.859	T	0.11542	-1.0583	9	0.87932	D	0	.	8.4474	0.32849	0.1081:0.0:0.8919:0.0	.	11	Q3LHN2	KR192_HUMAN	R	11	ENSP00000335660:S11R	ENSP00000335660:S11R	S	-	3	2	KRTAP19-2	30781506	0.525000	0.26290	0.007000	0.13788	0.007000	0.05969	1.672000	0.37523	1.185000	0.42971	-0.137000	0.14449	AGC		0.572	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3		
TMPRSS3	64699	broad.mit.edu	37	21	43803237	43803237	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:43803237G>A	ENST00000291532.3	-	8	1642	c.687C>T	c.(685-687)ccC>ccT	p.P229P	TMPRSS3_ENST00000398397.3_Silent_p.P229P|TMPRSS3_ENST00000433957.2_Silent_p.P229P|TMPRSS3_ENST00000398405.1_Silent_p.P227P|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.P313P	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TGGCCTGCCAGGGCCACTGCG	0.587																																						uc002zbb.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(685-687)ccC>ccT		Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.							97.0	79.0	85.0					21																	43803237		2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43803237G>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.687C>T	21.37:g.43803237G>A						TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.P102P|TMPRSS3_uc002zba.2_Silent_p.P102P|TMPRSS3_uc002zbc.2_Silent_p.P229P|TMPRSS3_uc002zbd.3_Silent_p.P229P	p.P229P	NM_024022	NP_076927	P57727	TMPS3_HUMAN			7	888	-			229			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.687C>T	CCDS13686.1																																																																																				0.587	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					uc002zxf.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gatgcc>gcc		Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.D171del	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			6	810_812	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2		
C22orf24	25775	broad.mit.edu	37	22	32334001	32334001	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr22:32334001T>C	ENST00000248984.3	-	2	218	c.52A>G	c.(52-54)Acc>Gcc	p.T18A	C22orf24_ENST00000543051.1_Missense_Mutation_p.T85A|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	18						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						CTTGACATGGTCCAAAGACTT	0.473																																						uc003aly.3																			0				central_nervous_system(1)|urinary_tract(1)	2						c.(52-54)Acc>Gcc		Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.							212.0	221.0	218.0					22																	32334001		2027	4188	6215	SO:0001583	missense	25775					integral to membrane		g.chr22:32334001T>C		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.52A>G	22.37:g.32334001T>C	ENSP00000248984:p.Thr18Ala					C22orf24_uc003alx.3_Non-coding_Transcript	p.T18A	NM_015372	NP_056187	Q9Y442	CV024_HUMAN			1	219	-			18					B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	c.52A>G	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973714	0.34848	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.39787	1.06;1.06	3.35	2.29	0.28610	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	P	0.40534	0.72	B	0.35353	0.201	T	0.08066	-1.0740	9	0.87932	D	0	.	6.6813	0.23121	0.0:0.0:0.244:0.756	.	18	Q9Y442	CV024_HUMAN	A	18;85	ENSP00000248984:T18A;ENSP00000437643:T85A	ENSP00000248984:T18A	T	-	1	0	C22orf24	30664001	0.001000	0.12720	0.510000	0.27712	0.299000	0.27559	0.445000	0.21677	0.648000	0.30732	0.533000	0.62120	ACC		0.473	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372	
C3orf20	84077	broad.mit.edu	37	3	14802983	14802983	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:14802983T>A	ENST00000253697.3	+	15	2808	c.2356T>A	c.(2356-2358)Ttt>Att	p.F786I	C3orf20_ENST00000435614.1_Missense_Mutation_p.F664I|C3orf20_ENST00000412910.1_Missense_Mutation_p.F664I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	786						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCAACAGATGTTTGCCGGGGG	0.483																																						uc003byy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2356-2358)Ttt>Att		Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.							56.0	57.0	57.0					3																	14802983		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14802983T>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2356T>A	3.37:g.14802983T>A	ENSP00000253697:p.Phe786Ile					C3orf20_uc003byz.3_Missense_Mutation_p.F664I|C3orf20_uc003bza.3_Missense_Mutation_p.F664I|C3orf20_uc003bzb.1_Missense_Mutation_p.F287I|C3orf20_uc011avj.2_Missense_Mutation_p.F113I	p.F786I	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN			14	2808	+			786					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2356T>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638514	0.67130	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.16597	2.61;2.33;2.33	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000125	T	0.23766	0.0575	M	0.72479	2.2	0.36988	D	0.894626	P;P	0.39883	0.693;0.693	B;B	0.41332	0.354;0.354	T	0.23797	-1.0178	10	0.59425	D	0.04	-15.7353	11.8849	0.52596	0.0:0.0:0.0:1.0	.	664;786	Q8ND61-2;Q8ND61	.;CC020_HUMAN	I	786;664;664	ENSP00000253697:F786I;ENSP00000402933:F664I;ENSP00000396081:F664I	ENSP00000253697:F786I	F	+	1	0	C3orf20	14777987	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.436000	0.59948	1.849000	0.53698	0.482000	0.46254	TTT		0.483	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
NR2C2	7182	broad.mit.edu	37	3	15079601	15079601	+	Silent	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:15079601C>G	ENST00000425241.1	+	12	1829	c.1467C>G	c.(1465-1467)ggC>ggG	p.G489G	NR2C2_ENST00000393102.3_Silent_p.G489G|NR2C2_ENST00000323373.6_Silent_p.G508G|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Silent_p.G489G			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	489	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATATAGATGGCTATGAGTATG	0.453																																						uc003bzj.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1465-1467)ggC>ggG		Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.							180.0	160.0	167.0					3																	15079601		2203	4300	6503	SO:0001819	synonymous_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15079601C>G	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1467C>G	3.37:g.15079601C>G						NR2C2_uc003bzi.3_Silent_p.G508G	p.G489G	NM_003298	NP_003289	P49116	NR2C2_HUMAN			11	1684	+			489			Ligand-binding (By similarity).		A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37	c.1467C>G																																																																																					0.453	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
HSPBAP1	79663	broad.mit.edu	37	3	122459942	122459942	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:122459942G>A	ENST00000306103.2	-	7	987	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCTTCTACCCGGGCTAGGTGA	0.423																																						uc003efu.2																			0		p.R282L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(844-846)Cgg>Tgg		Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.							101.0	101.0	101.0					3																	122459942		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459942G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.844C>T	3.37:g.122459942G>A	ENSP00000302562:p.Arg282Trp					HSPBAP1_uc003eft.2_5'UTR	p.R282W	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	983	-			282			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.844C>T	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328554	0.81690	.	.	ENSG00000169087	ENST00000306103	T	0.11821	2.74	5.35	5.35	0.76521	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	1.580070	0.02920	N	0.137847	T	0.48241	0.1489	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02301	-1.1180	10	0.66056	D	0.02	.	16.3722	0.83368	0.0:0.0:1.0:0.0	.	282	Q96EW2	HBAP1_HUMAN	W	282	ENSP00000302562:R282W	ENSP00000302562:R282W	R	-	1	2	HSPBAP1	123942632	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	4.223000	0.58587	2.785000	0.95823	0.655000	0.94253	CGG		0.423	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
SLIT2	9353	broad.mit.edu	37	4	20541195	20541195	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:20541195C>A	ENST00000504154.1	+	19	2216	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	SLIT2_ENST00000273739.5_Missense_Mutation_p.S659Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.S651Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.S647Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	655					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCTCCATTCTTTATCTACT	0.308																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1963-1965)tCt>tAt		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							93.0	88.0	90.0					4																	20541195		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541195C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1964C>A	4.37:g.20541195C>A	ENSP00000422591:p.Ser655Tyr					SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	p.S655Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN			18	2168	+			655					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1964C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139337	0.94560	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.69	5.69	0.88448	.	0.099158	0.64402	D	0.000001	T	0.80019	0.4547	M	0.81682	2.555	0.80722	D	1	D;D	0.58620	0.98;0.983	P;P	0.62382	0.84;0.901	T	0.81357	-0.0969	10	0.62326	D	0.03	.	19.817	0.96573	0.0:1.0:0.0:0.0	.	647;655	O94813-3;O94813	.;SLIT2_HUMAN	Y	647;655;659;651;651	ENSP00000427548:S647Y;ENSP00000422591:S655Y;ENSP00000273739:S659Y;ENSP00000422261:S651Y	ENSP00000273739:S659Y	S	+	2	0	SLIT2	20150293	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	7.807000	0.86032	2.678000	0.91216	0.655000	0.94253	TCT		0.308	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
BANK1	55024	broad.mit.edu	37	4	102946614	102946614	+	Silent	SNP	G	G	A	rs199703882		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:102946614G>A	ENST00000322953.4	+	9	1816	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Silent_p.P484P|BANK1_ENST00000504592.1_Silent_p.P499P|BANK1_ENST00000508653.1_Silent_p.P381P|BANK1_ENST00000428908.1_Silent_p.P381P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	514					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCCCCCGCCGCGACCTGTAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18682	0.001		0.0	False		,,,				2504	0.0					uc003hvy.4																			0		p.P514L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(1540-1542)ccG>ccA		Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.							56.0	57.0	57.0					4																	102946614		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102946614G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1542G>A	4.37:g.102946614G>A						BANK1_uc003hvx.4_Silent_p.P499P|BANK1_uc010ill.3_Silent_p.P381P|BANK1_uc003hvz.4_Silent_p.P484P	p.P514P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1816	+		Hepatocellular(203;0.217)	514					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1542G>A	CCDS34038.1																																																																																				0.433	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
ALPK1	80216	broad.mit.edu	37	4	113353098	113353098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:113353098delC	ENST00000458497.1	+	11	2674	c.2395delC	c.(2395-2397)cccfs	p.P799fs	ALPK1_ENST00000177648.9_Frame_Shift_Del_p.P799fs|ALPK1_ENST00000504176.2_Frame_Shift_Del_p.P721fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	799							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAAGATGCACCCTTAGACTT	0.488																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2395-2397)cccfs		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							61.0	54.0	56.0					4																	113353098		2203	4300	6503	SO:0001589	frameshift_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353098delC	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2395delC	4.37:g.113353098delC	ENSP00000398048:p.Pro799fs					ALPK1_uc003iap.4_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Del_p.P627fs	p.P799fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	2622	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	799					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Frame_Shift_Del	DEL	ENST00000458497.1	37	c.2395delC	CCDS3697.1																																																																																				0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
FHDC1	85462	broad.mit.edu	37	4	153897835	153897835	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:153897835G>A	ENST00000511601.1	+	12	3580	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1131Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1131									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACTCCAGTCGGACCACGCTG	0.637																																						uc003inf.2																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3391-3393)cGg>cAg		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.							15.0	13.0	13.0					4																	153897835		2187	4287	6474	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897835G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3392G>A	4.37:g.153897835G>A	ENSP00000427567:p.Arg1131Gln						p.R1131Q	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	3467	+	all_hematologic(180;0.093)		1131						Missense_Mutation	SNP	ENST00000511601.1	37	c.3392G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531489	0.27387	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.34072	1.38;1.38	5.39	0.384	0.16244	.	0.583336	0.15609	N	0.253519	T	0.16854	0.0405	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.22034	-1.0228	10	0.21540	T	0.41	.	5.7981	0.18397	0.2809:0.3635:0.3556:0.0	.	1131	Q9C0D6	FHDC1_HUMAN	Q	1131	ENSP00000427567:R1131Q;ENSP00000260008:R1131Q	ENSP00000260008:R1131Q	R	+	2	0	FHDC1	154117285	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.461000	0.21940	-0.268000	0.09312	0.655000	0.94253	CGG		0.637	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
POU4F3	5459	broad.mit.edu	37	5	145719603	145719603	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr5:145719603C>A	ENST00000230732.4	+	2	702	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	205	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGTGACCCAGGCGGACGT	0.657																																						uc003loa.2																			0		p.Q205H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(613-615)Cag>Aag		Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.							38.0	43.0	41.0					5																	145719603		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719603C>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.613C>A	5.37:g.145719603C>A	ENSP00000230732:p.Gln205Lys						p.Q205K	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	702	+			205			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.613C>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069195	0.76301	.	.	ENSG00000091010	ENST00000230732	D	0.87650	-2.28	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.92923	3.36	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.96024	0.9011	10	0.87932	D	0	.	16.1394	0.81513	0.0:1.0:0.0:0.0	.	205	Q15319	PO4F3_HUMAN	K	205	ENSP00000230732:Q205K	ENSP00000230732:Q205K	Q	+	1	0	POU4F3	145699796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.312000	0.78011	0.462000	0.41574	CAG		0.657	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
HIST1H2AA	221613	broad.mit.edu	37	6	25726720	25726720	+	Silent	SNP	G	G	A	rs150563946	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:25726720G>A	ENST00000297012.3	-	1	70	c.36C>T	c.(34-36)cgC>cgT	p.R12R	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TAGACTTGGCGCGTGCTTTTC	0.532													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18681	0.0		0.001	False		,,,				2504	0.0					uc003nfc.3																			0		p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(34-36)cgC>cgT		Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	458.0	351.0	388.0		36	-6.1	0.0	6	dbSNP_134	388	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,20,6483	AA,AG,GG		0.1977,0.0681,0.1538		12/132	25726720	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726720G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.36C>T	6.37:g.25726720G>A						HIST1H2BA_uc003nfd.3_5'Flank	p.R12R	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			0	71	-			12						Silent	SNP	ENST00000297012.3	37	c.36C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745	
BTN3A3	10384	broad.mit.edu	37	6	26452287	26452287	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:26452287A>G	ENST00000244519.2	+	11	1646	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	BTN3A3_ENST00000361232.3_Missense_Mutation_p.E419G|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E426G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	468	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTGGACTATGAGACTGGAGAG	0.483																																						uc003nhz.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1402-1404)gAg>gGg		Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.							118.0	110.0	112.0					6																	26452287		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452287A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1403A>G	6.37:g.26452287A>G	ENSP00000244519:p.Glu468Gly					BTN3A3_uc011dkn.2_Missense_Mutation_p.E419G|BTN3A3_uc021ynh.1_Missense_Mutation_p.E258G	p.E468G	NM_006994	NP_008925	O00478	BT3A3_HUMAN			10	1646	+			468			B30.2/SPRY.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1403A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151606	0.38021	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.65549	-0.16;-0.16;-0.16	3.15	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.72614	0.3482	M	0.86178	2.8	0.36640	D	0.876792	P;D	0.76494	0.896;0.999	P;D	0.79108	0.714;0.992	T	0.77330	-0.2628	9	0.87932	D	0	.	9.9611	0.41697	1.0:0.0:0.0:0.0	.	419;468	E9PCP5;O00478	.;BT3A3_HUMAN	G	468;426;419	ENSP00000244519:E468G;ENSP00000344968:E426G;ENSP00000355238:E419G	ENSP00000244519:E468G	E	+	2	0	BTN3A3	26560266	1.000000	0.71417	0.563000	0.28383	0.039000	0.13416	4.868000	0.63021	1.374000	0.46228	0.374000	0.22700	GAG		0.483	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
EEF1A1	1915	broad.mit.edu	37	6	74229196	74229196	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:74229196A>C	ENST00000316292.9	-	2	1179	c.188T>G	c.(187-189)cTg>cGg	p.L63R	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.L63R|EEF1A1_ENST00000331523.2_Missense_Mutation_p.L63R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	63	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CTCAGCTTTCAGTTTATCCAA	0.428											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(187-189)cTg>cGg		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							74.0	84.0	81.0					6																	74229196		2201	4293	6494	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229196A>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.188T>G	6.37:g.74229196A>C	ENSP00000339063:p.Leu63Arg		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.L63R|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.L63R	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	1180	-			63					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.188T>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464440	0.43736	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	3.97	3.97	0.46021	Protein synthesis factor, GTP-binding (4);	0.000000	0.56097	U	0.000024	T	0.67192	0.2867	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	0.982;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.885;1.0;1.0;1.0;1.0	T	0.75923	-0.3146	10	0.87932	D	0	.	13.3318	0.60492	1.0:0.0:0.0:0.0	.	63;63;63;63;63	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	R	63	ENSP00000339063:L63R;ENSP00000339053:L63R;ENSP00000330054:L63R;ENSP00000348651:L63R;ENSP00000392366:L63R	ENSP00000339053:L63R	L	-	2	0	EEF1A1	74285917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.829000	0.92055	1.792000	0.52537	0.454000	0.30748	CTG		0.428	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
IQCE	23288	broad.mit.edu	37	7	2611279	2611279	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:2611279G>A	ENST00000402050.2	+	4	434	c.250G>A	c.(250-252)Gca>Aca	p.A84T	IQCE_ENST00000438376.2_Missense_Mutation_p.A68T|IQCE_ENST00000404984.1_Missense_Mutation_p.A33T|IQCE_ENST00000325979.7_Missense_Mutation_p.A19T	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	84						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCTGGGAACCGCAAAGCCAGG	0.572																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(250-252)Gca>Aca		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							42.0	47.0	45.0					7																	2611279		1944	4123	6067	SO:0001583	missense	23288							g.chr7:2611279G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.250G>A	7.37:g.2611279G>A	ENSP00000385597:p.Ala84Thr					IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smo.4_Missense_Mutation_p.A84T|IQCE_uc003smk.4_Missense_Mutation_p.A68T|IQCE_uc003smn.4_Missense_Mutation_p.A19T	p.A84T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	3	434	+		Ovarian(82;0.0112)	84					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.250G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	5.396	0.258202	0.10239	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.35	-10.7	0.00240	.	0.959099	0.08622	N	0.918376	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.31625	0.332;0.332;0.231;0.152;0.332;0.196	B;B;B;B;B;B	0.19148	0.022;0.012;0.024;0.008;0.012;0.011	T	0.36359	-0.9751	10	0.05525	T	0.97	-0.1233	5.844	0.18652	0.0919:0.2015:0.531:0.1757	.	19;68;19;84;84;68	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	T	84;33;84;68;19;19;19	ENSP00000385597:A84T;ENSP00000385945:A33T;ENSP00000404643:A84T;ENSP00000396178:A68T;ENSP00000313772:A19T;ENSP00000413570:A19T	ENSP00000313772:A19T	A	+	1	0	IQCE	2577805	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.192000	0.09587	-2.225000	0.00724	-1.193000	0.01689	GCA		0.572	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
FAM183B	340286	broad.mit.edu	37	7	38725660	38725660	+	5'UTR	SNP	G	G	A	rs569780333		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:38725660G>A	ENST00000409072.3	-	0	880							Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CTTACCACTCGCTTGGCTGCG	0.632																																						uc011kbd.2																			0				endometrium(1)|lung(7)	8						c.(637-639)Cga>Tga		Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.																																				SO:0001623	5_prime_UTR_variant	340286							g.chr7:38725660G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.-55C>T	7.37:g.38725660G>A							p.R213*							1	933	-								A4D1Y1	Nonsense_Mutation	SNP	ENST00000409072.3	37	c.637C>T																																																																																					0.632	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
HBP1	26959	broad.mit.edu	37	7	106829793	106829793	+	Silent	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:106829793C>T	ENST00000222574.4	+	7	1008	c.822C>T	c.(820-822)ggC>ggT	p.G274G	HBP1_ENST00000468410.1_Silent_p.G274G|HBP1_ENST00000461963.1_Intron|HBP1_ENST00000485846.1_Silent_p.G274G	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	274	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TATCATTTGGCGAGTCTGTAC	0.368																																						uc003vdy.3																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(820-822)ggC>ggT		Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.							204.0	172.0	183.0					7																	106829793		2203	4300	6503	SO:0001819	synonymous_variant	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106829793C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.822C>T	7.37:g.106829793C>T						HBP1_uc011klv.2_Silent_p.G284G|HBP1_uc003vdz.3_Silent_p.G274G|HBP1_uc003vea.3_Silent_p.G274G|HBP1_uc003veb.1_Silent_p.G274G	p.G274G	NM_012257	NP_036389	O60381	HBP1_HUMAN			6	1008	+			274			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Silent	SNP	ENST00000222574.4	37	c.822C>T	CCDS5741.1																																																																																				0.368	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257	
SLC30A8	169026	broad.mit.edu	37	8	118170045	118170045	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:118170045G>A	ENST00000456015.2	+	4	534	c.534G>A	c.(532-534)atG>atA	p.M178I	SLC30A8_ENST00000519688.1_Missense_Mutation_p.M129I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.M129I|SLC30A8_ENST00000427715.2_Missense_Mutation_p.M129I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	178					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.3																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(532-534)atG>atA		Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.							231.0	194.0	207.0					8																	118170045		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170045G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.534G>A	8.37:g.118170045G>A	ENSP00000415011:p.Met178Ile					SLC30A8_uc010mcz.3_Missense_Mutation_p.M129I|SLC30A8_uc003yog.3_Missense_Mutation_p.M129I|SLC30A8_uc011lia.2_Missense_Mutation_p.M129I|SLC30A8_uc022bab.1_Missense_Mutation_p.M129I	p.M178I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		3	764	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		178					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.534G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658027	0.67586	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.77	4.89	0.63831	.	0.038129	0.85682	D	0.000000	T	0.76371	0.3978	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.79754	-0.1670	10	0.87932	D	0	-33.4136	14.2057	0.65732	0.0726:0.0:0.9274:0.0	.	178	Q8IWU4	ZNT8_HUMAN	I	129;129;129;178	ENSP00000428545:M129I;ENSP00000407505:M129I;ENSP00000431069:M129I;ENSP00000415011:M178I	ENSP00000407505:M129I	M	+	3	0	SLC30A8	118239226	1.000000	0.71417	0.989000	0.46669	0.085000	0.17905	5.722000	0.68485	2.722000	0.93159	0.655000	0.94253	ATG		0.547	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
TONSL	4796	broad.mit.edu	37	8	145662013	145662013	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:145662013C>T	ENST00000409379.3	-	16	1971	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	648					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGTCCAGGTCCCTGCGGTAC	0.682																																						uc011llg.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1942-1944)Gac>Aac		Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.							49.0	50.0	50.0					8																	145662013		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145662013C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1942G>A	8.37:g.145662013C>T	ENSP00000386239:p.Asp648Asn					AK298596_uc011llh.1_Intron	p.D648N	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN			15	1957	-			648					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1942G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630377	0.67015	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46451	0.87	4.73	4.73	0.59995	.	0.193761	0.43579	D	0.000546	T	0.43942	0.1270	L	0.34521	1.04	0.36588	D	0.873933	D	0.60575	0.988	P	0.54815	0.761	T	0.53194	-0.8473	10	0.52906	T	0.07	-17.6206	11.1499	0.48453	0.0:0.8129:0.1871:0.0	.	648	Q96HA7	TONSL_HUMAN	N	648;647	ENSP00000386239:D648N	ENSP00000386239:D648N	D	-	1	0	TONSL	145632821	0.997000	0.39634	0.057000	0.19452	0.635000	0.38103	3.640000	0.54350	2.161000	0.67846	0.462000	0.41574	GAC		0.682	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
ABO	28	broad.mit.edu	37	9	136136731	136136731	+	RNA	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr9:136136731G>A	ENST00000453660.2	-	0	156							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGAACCCCCGTTCCAGGCTT	0.607																																						uc004cda.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11						c.(145-147)Cgg>Tgg		Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.							49.0	50.0	50.0					9																	136136731		1944	4142	6086			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136136731G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136136731G>A						ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	p.R49W	NM_020469	NP_065202	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	2	170	-			49					B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.145C>T																																																																																					0.607	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469	
NLGN4X	57502	broad.mit.edu	37	X	5811156	5811156	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:5811156G>T	ENST00000381095.3	-	6	2780	c.2153C>A	c.(2152-2154)aCa>aAa	p.T718K	NLGN4X_ENST00000381093.2_Missense_Mutation_p.T738K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T718K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T718K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T718K	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	718					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATATCATTTGTGGTGTTTCT	0.522																																						uc010ndi.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2263-2265)aCa>aAa		Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.							150.0	114.0	126.0					X																	5811156		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811156G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2153C>A	X.37:g.5811156G>T	ENSP00000370485:p.Thr718Lys					NLGN4X_uc004crp.3_Missense_Mutation_p.T738K|NLGN4X_uc010ndh.3_Missense_Mutation_p.T718K|NLGN4X_uc004crq.3_Missense_Mutation_p.T718K|NLGN4X_uc004crr.3_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.3_Missense_Mutation_p.T718K	p.T755K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2728	-			718					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2264C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919459	0.02396	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	3.82	3.82	0.43975	.	.	.	.	.	T	0.14184	0.0343	L	0.33485	1.01	0.09310	N	1	B;B;P	0.36315	0.036;0.224;0.547	B;B;B	0.32624	0.028;0.045;0.149	T	0.10870	-1.0611	9	0.40728	T	0.16	.	14.222	0.65833	0.0:0.0:1.0:0.0	.	775;718;738	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	K	718;738;718;718;718	ENSP00000370485:T718K;ENSP00000370483:T738K;ENSP00000275857:T718K;ENSP00000370482:T718K;ENSP00000439203:T718K	ENSP00000275857:T718K	T	-	2	0	NLGN4X	5821156	1.000000	0.71417	0.002000	0.10522	0.063000	0.16089	6.336000	0.72954	1.508000	0.48769	0.513000	0.50165	ACA		0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
SSX3	10214	broad.mit.edu	37	X	48209558	48209558	+	Splice_Site	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48209558C>T	ENST00000298396.2	-	6	383		c.e6-1		SSX3_ENST00000376895.1_Splice_Site|SSX3_ENST00000376893.3_Splice_Site	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TGGGCATGATCTTTATAATGT	0.433																																					Colon(37;227 826 19399 40970 48007)	uc004djd.1																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.e6-1		Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.							208.0	202.0	204.0					X																	48209558		2203	4300	6503	SO:0001630	splice_region_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209558C>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.331-1G>A	X.37:g.48209558C>T						SSX3_uc004dje.3_Splice_Site_p.I111_splice	p.I111_splice	NM_021014	NP_066294	Q99909	SSX3_HUMAN			6	425	-			111					O60223|Q5JQZ3|Q9BRW7	Splice_Site	SNP	ENST00000298396.2	37	c.331_splice	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	c	4.610	0.113442	0.08831	.	.	ENSG00000165584	ENST00000298396;ENST00000376895;ENST00000376893	.	.	.	1.72	0.816	0.18768	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6714	0.08276	0.0:0.7422:0.0:0.2578	.	.	.	.	.	-1	.	.	.	-	.	.	SSX3	48094502	0.058000	0.20735	0.010000	0.14722	0.180000	0.23129	1.655000	0.37345	0.195000	0.20347	0.171000	0.16805	.		0.433	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014	Intron
KCND1	3750	broad.mit.edu	37	X	48822565	48822565	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48822565G>A	ENST00000218176.3	-	5	2912	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	KCND1_ENST00000376477.1_Missense_Mutation_p.R162C	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	539					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	ATGGCGCGGCGCTTGGCCCTG	0.682																																						uc004dlx.1																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1615-1617)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.							25.0	27.0	26.0					X																	48822565		2202	4300	6502	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48822565G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1615C>T	X.37:g.48822565G>A	ENSP00000218176:p.Arg539Cys					KCND1_uc004dlw.1_Missense_Mutation_p.R162C	p.R539C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			4	3188	-			539					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1615C>T	CCDS14314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695204|3.695204	0.68386|0.68386	.|.	.|.	ENSG00000102057|ENSG00000102057	ENST00000419374|ENST00000376477;ENST00000218176	.|D;D	.|0.84800	.|-1.9;-1.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Potassium channel, voltage dependent, Kv4, C-terminal (1);	.|0.058943	.|0.64402	.|D	.|0.000003	D|D	0.90317|0.90317	0.6971|0.6971	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.65443	.|0.935	D|D	0.90504|0.90504	0.4476|0.4476	5|10	.|0.51188	.|T	.|0.08	.|.	16.9484|16.9484	0.86236|0.86236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|539	.|Q9NSA2	.|KCND1_HUMAN	V|C	110|162;539	.|ENSP00000365660:R162C;ENSP00000218176:R539C	.|ENSP00000218176:R539C	A|R	-|-	2|1	0|0	KCND1|KCND1	48707509|48707509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.545000|3.545000	0.53648|0.53648	2.265000|2.265000	0.75225|0.75225	0.523000|0.523000	0.50628|0.50628	GCG|CGC		0.682	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
KIAA1210	57481	broad.mit.edu	37	X	118222577	118222577	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:118222577G>A	ENST00000402510.2	-	11	2615	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	872										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAGAGGCAGGTCTTCCTCTG	0.448																																						uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2614-2616)gaC>gaT		Homo sapiens KIAA1210 (KIAA1210), mRNA.							51.0	49.0	49.0					X																	118222577		1943	4113	6056	SO:0001819	synonymous_variant	57481							g.chrX:118222577G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2616C>T	X.37:g.118222577G>A							p.D872D	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			10	2616	-			872					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.2616C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353117	0.05173	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.34	-8.67	0.00863	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05338	-1.0891	4	.	.	.	.	2.7954	0.05400	0.0926:0.4497:0.2257:0.2319	.	.	.	.	S	279	.	.	P	-	1	0	KIAA1210	118106605	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.986000	0.00163	-4.977000	0.00025	-1.002000	0.02502	CCT		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
MAGEC2	51438	broad.mit.edu	37	X	141291256	141291256	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:141291256T>G	ENST00000247452.3	-	3	865	c.518A>C	c.(517-519)aAg>aCg	p.K173T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	173	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTGTACTTGATGACAAT	0.478										HNSCC(46;0.14)																												uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(517-519)aAg>aCg		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							173.0	165.0	168.0					X																	141291256		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291256T>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.518A>C	X.37:g.141291256T>G	ENSP00000354660:p.Lys173Thr	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.K173T	p.K173T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	518	-	Acute lymphoblastic leukemia(192;6.56e-05)		173			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.518A>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.179	0.218512	0.09810	.	.	ENSG00000046774	ENST00000247452	T	0.05649	3.41	0.97	-1.94	0.07571	.	0.344132	0.27691	U	0.018253	T	0.08980	0.0222	L	0.35793	1.09	0.09310	N	1	B	0.27117	0.168	P	0.47118	0.538	T	0.45205	-0.9277	10	0.87932	D	0	.	4.4848	0.11785	0.0:0.5085:0.0:0.4915	.	173	Q9UBF1	MAGC2_HUMAN	T	173	ENSP00000354660:K173T	ENSP00000354660:K173T	K	-	2	0	MAGEC2	141118922	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.325000	0.07976	-0.907000	0.03862	-0.832000	0.03076	AAG		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
MAGEA6	4105	broad.mit.edu	37	X	151870086	151870086	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522																																						uc022chf.1																			1	Substitution - Missense(1)	p.R259Q(2)|p.R259R(1)	breast(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(775-777)cGg>cAg		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.							127.0	129.0	128.0					X																	151870086		2203	4298	6501	SO:0001583	missense	4105						protein binding	g.chrX:151870086G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.776G>A	X.37:g.151870086G>A	ENSP00000329199:p.Arg259Gln					MAGEA6_uc004ffq.1_Missense_Mutation_p.R259Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R259Q	p.R259Q	NM_175868	NP_787064	P43360	MAGA6_HUMAN			0	776	+	Acute lymphoblastic leukemia(192;6.56e-05)		259			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.776G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	5.557	0.287720	0.10513	.	.	ENSG00000197172	ENST00000329342	T	0.05786	3.39	0.605	-0.541	0.11858	.	.	.	.	.	T	0.04227	0.0117	L	0.53249	1.67	0.09310	N	1	P	0.44986	0.847	B	0.26310	0.068	T	0.38585	-0.9654	8	0.35671	T	0.21	.	.	.	.	.	259	P43360	MAGA6_HUMAN	Q	259	ENSP00000329199:R259Q	ENSP00000329199:R259Q	R	+	2	0	MAGEA6	151620742	0.000000	0.05858	0.008000	0.14137	0.156000	0.22039	-1.148000	0.03185	-0.309000	0.08779	0.181000	0.17075	CGG		0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
