#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAZN	23254	broad.mit.edu	37	1	14925658	14925658	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:14925658C>T	ENST00000376030.2	+	1	459	c.165C>T	c.(163-165)agC>agT	p.S55S	KAZN_ENST00000422387.2_Silent_p.S55S|KAZN_ENST00000503743.1_Silent_p.S55S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	55					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ccgcggccagcgcctcggcgg	0.756																																						uc001avm.3		NA																	0					0						c.(163-165)AGC>AGT		kazrin isoform E							2.0	3.0	3.0					1																	14925658		1039	2583	3622	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925658C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.165C>T	1.37:g.14925658C>T						KAZ_uc009vog.1_Silent_p.S55S|KAZ_uc010obj.1_Silent_p.S55S	p.S55S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			1	446	+			55					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.165C>T	CCDS152.2																																																																																				0.756	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	4	0	0	0	0	3	4				
IPO13	9670	broad.mit.edu	37	1	44415762	44415762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:44415762C>T	ENST00000372343.3	+	2	1420	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	253					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCAGGACTCGGAGCTCTTC	0.577																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(757-759)TCG>TTG		importin 13							31.0	28.0	29.0					1																	44415762		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415762C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.758C>T	1.37:g.44415762C>T	ENSP00000361418:p.Ser253Leu						p.S253L	NM_014652	NP_055467	O94829	IPO13_HUMAN			2	1553	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	253			HEAT 3.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.758C>T	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760423	0.69763	.	.	ENSG00000117408	ENST00000372343	T	0.47177	0.85	5.5	5.5	0.81552	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.099678	0.64402	D	0.000001	T	0.41673	0.1169	L	0.38175	1.15	0.80722	D	1	B	0.33318	0.408	B	0.31390	0.129	T	0.22836	-1.0205	10	0.35671	T	0.21	-14.2247	19.3949	0.94603	0.0:1.0:0.0:0.0	.	253	O94829	IPO13_HUMAN	L	253	ENSP00000361418:S253L	ENSP00000361418:S253L	S	+	2	0	IPO13	44188349	1.000000	0.71417	0.990000	0.47175	0.955000	0.61496	7.729000	0.84864	2.606000	0.88127	0.491000	0.48974	TCG		0.577	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		12	27	0	0	0	0	12	27				
DNTTIP2	30836	broad.mit.edu	37	1	94342345	94342345	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:94342345G>A	ENST00000436063.2	-	2	1203	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTGCTTTTATGGGGCTCTTTT	0.398																																						uc001dqf.2		NA																	0					0						c.(1144-1146)CCC>CCT		deoxynucleotidyltransferase, terminal,							265.0	246.0	252.0					1																	94342345		1872	4106	5978	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342345G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1146C>T	1.37:g.94342345G>A						DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.P177P	p.P382P	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1184	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	382					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1146C>T	CCDS44174.1																																																																																				0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		139	171	0	0	0	0	139	171				
DDX20	11218	broad.mit.edu	37	1	112309065	112309065	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:112309065C>T	ENST00000369702.4	+	11	2639	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	DDX20_ENST00000475700.1_Silent_p.Y281Y	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	673					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGTCATACTTGGAAGGCT	0.453																																						uc001ebs.2		NA																	0				lung(1)|kidney(1)	2						c.(2017-2019)TAC>TAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							66.0	69.0	68.0					1																	112309065		2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309065C>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2019C>T	1.37:g.112309065C>T						DDX20_uc010owf.1_Silent_p.Y435Y|DDX20_uc001ebt.2_Silent_p.Y281Y	p.Y673Y	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2376	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	673					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.2019C>T	CCDS842.1																																																																																				0.453	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		14	43	0	0	0	0	14	43				
FLG	2312	broad.mit.edu	37	1	152276170	152276170	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:152276170G>A	ENST00000368799.1	-	3	11227	c.11192C>T	c.(11191-11193)aCt>aTt	p.T3731I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3731	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTCCAGTACTGGGCCC	0.617									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11191-11193)ACT>ATT		filaggrin							224.0	229.0	227.0					1																	152276170		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276170G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11192C>T	1.37:g.152276170G>A	ENSP00000357789:p.Thr3731Ile						p.T3731I	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11228	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3731			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11192C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.422	1.083190	0.20309	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.71	-4.99	0.03010	.	.	.	.	.	T	0.02083	0.0065	M	0.77616	2.38	0.09310	N	1	D	0.69078	0.997	P	0.62560	0.904	T	0.04946	-1.0916	9	0.44086	T	0.13	.	5.5695	0.17188	0.0951:0.5422:0.2313:0.1314	.	3731	P20930	FILA_HUMAN	I	3731	ENSP00000357789:T3731I	ENSP00000357789:T3731I	T	-	2	0	FLG	150542794	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.552000	0.06020	-1.167000	0.02779	-0.321000	0.08615	ACT		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		139	307	0	0	0	0	139	307				
IVL	3713	broad.mit.edu	37	1	152883939	152883939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:152883939C>T	ENST00000368764.3	+	2	1730	c.1666C>T	c.(1666-1668)Caa>Taa	p.Q556*	IVL_ENST00000392667.2_Nonsense_Mutation_p.Q410*			P07476	INVO_HUMAN	involucrin	556					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGACATTCAACCAGCCCT	0.592																																						uc001fau.2		NA																	0				ovary(3)	3						c.(1666-1668)CAA>TAA		involucrin							65.0	66.0	65.0					1																	152883939		2203	4300	6503	SO:0001587	stop_gained	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883939C>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1666C>T	1.37:g.152883939C>T	ENSP00000357753:p.Gln556*						p.Q556*	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1712	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		556					Q5T7P4	Nonsense_Mutation	SNP	ENST00000368764.3	37	c.1666C>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087499	0.76642	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	.	.	.	4.8	-0.632	0.11523	.	.	.	.	.	.	.	.	.	.	.	0.43841	D	0.996422	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	1.0612	0.01600	0.2807:0.2783:0.2741:0.167	.	.	.	.	X	556;410	.	ENSP00000357753:Q556X	Q	+	1	0	IVL	151150563	0.004000	0.15560	0.000000	0.03702	0.143000	0.21401	0.781000	0.26774	0.006000	0.14734	0.563000	0.77884	CAA		0.592	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		19	53	0	0	0	0	19	53				
S100A2	6273	broad.mit.edu	37	1	153533987	153533987	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:153533987C>T	ENST00000368708.3	-	3	594	c.222G>A	c.(220-222)gaG>gaA	p.E74E	S100A2_ENST00000368710.1_Silent_p.E74E|S100A2_ENST00000368709.1_Silent_p.E74E|S100A2_ENST00000487430.2_Silent_p.E74E|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000497140.1_Silent_p.E41E	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	75	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AAACAGCATACTCCTGGAAGT	0.527																																						uc001fcb.2		NA																	0				ovary(1)	1						c.(220-222)GAG>GAA		S100 calcium binding protein A2							239.0	226.0	230.0					1																	153533987		2203	4300	6503	SO:0001819	synonymous_variant	6273				endothelial cell migration		calcium ion binding	g.chr1:153533987C>T	BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.222G>A	1.37:g.153533987C>T							p.E74E	NM_005978	NP_005969	P29034	S10A2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	560	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		75			EF-hand 2.|2; high affinity (Potential).		O00266|Q3KRB9|Q5RHS8|Q9BU83	Silent	SNP	ENST00000368708.3	37	c.222G>A	CCDS1044.1																																																																																				0.527	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		56	149	0	0	0	0	56	149				
RAB13	5872	broad.mit.edu	37	1	153957221	153957221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:153957221C>T	ENST00000368575.3	-	2	276	c.161G>A	c.(160-162)gGg>gAg	p.G54E	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	54					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATCTTCTTCCCCTCTATATC	0.448																																					Ovarian(138;395 2427 24306 43415)	uc001fdt.1		NA																	0					0						c.(160-162)GGG>GAG		RAB13, member RAS oncogene family							150.0	127.0	135.0					1																	153957221		2203	4300	6503	SO:0001583	missense	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153957221C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.161G>A	1.37:g.153957221C>T	ENSP00000357564:p.Gly54Glu					RAB13_uc001fdu.1_Missense_Mutation_p.G54E	p.G54E	NM_002870	NP_002861	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	255	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		54					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	37	c.161G>A	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368300	0.82463	.	.	ENSG00000143545	ENST00000368575	D	0.83506	-1.73	5.16	5.16	0.70880	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	L	0.43598	1.365	0.80722	D	1	B;D	0.89917	0.36;1.0	B;D	0.91635	0.159;0.999	D	0.87294	0.2301	10	0.87932	D	0	.	16.1796	0.81890	0.0:1.0:0.0:0.0	.	54;54	D3DV69;P51153	.;RAB13_HUMAN	E	54	ENSP00000357564:G54E	ENSP00000357564:G54E	G	-	2	0	RAB13	152223845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.229000	0.78088	2.702000	0.92279	0.655000	0.94253	GGG		0.448	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		4	31	0	0	0	0	4	31				
OR10J5	127385	broad.mit.edu	37	1	159505792	159505792	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:159505792C>G	ENST00000334857.2	-	1	50	c.6G>C	c.(4-6)aaG>aaC	p.K2N		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGTTCTTTCTCTTCATTCTGC	0.348																																						uc010piw.1		NA																	0				skin(2)|ovary(1)	3						c.(4-6)AAG>AAC		olfactory receptor, family 10, subfamily J,							43.0	44.0	44.0					1																	159505792		2199	4300	6499	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505792C>G		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.6G>C	1.37:g.159505792C>G	ENSP00000334441:p.Lys2Asn						p.K2N	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	6	-	all_hematologic(112;0.0429)		2			Extracellular (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.6G>C	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248471	0.22880	.	.	ENSG00000184155	ENST00000334857	T	0.03152	4.03	4.53	2.63	0.31362	.	.	.	.	.	T	0.00845	0.0028	N	0.25094	0.71	0.09310	N	0.999997	B	0.10296	0.003	B	0.10450	0.005	T	0.48151	-0.9060	9	0.29301	T	0.29	.	4.8903	0.13724	0.0:0.6326:0.1768:0.1906	.	2	Q8NHC4	O10J5_HUMAN	N	2	ENSP00000334441:K2N	ENSP00000334441:K2N	K	-	3	2	OR10J5	157772416	0.000000	0.05858	1.000000	0.80357	0.613000	0.37349	-0.343000	0.07791	0.624000	0.30286	0.557000	0.71058	AAG		0.348	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		14	32	0	0	0	0	14	32				
ATP1A2	477	broad.mit.edu	37	1	160109482	160109482	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:160109482C>A	ENST00000361216.3	+	21	2982	c.2893C>A	c.(2893-2895)Ctc>Atc	p.L965I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.L965I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	965					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTGCCTTTCTCTCTTACTG	0.582																																						uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2893-2895)CTC>ATC		Na+/K+ -ATPase alpha 2 subunit proprotein							121.0	107.0	112.0					1																	160109482		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109482C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2893C>A	1.37:g.160109482C>A	ENSP00000354490:p.Leu965Ile					ATP1A2_uc001fvd.2_Missense_Mutation_p.L684I	p.L965I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		21	3025	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		965			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2893C>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750368|3.750368	0.69533|0.69533	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	D|D;D	0.95001|0.94828	-3.58|-3.53;-3.53	4.37|4.37	3.45|3.45	0.39498|0.39498	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.95095|0.95095	0.8411|0.8411	M|M	0.65320|0.65320	2|2	0.52099|0.52099	D|D	0.999946|0.999946	.|P;P	.|0.39883	.|0.493;0.693	.|P;P	.|0.61800	.|0.83;0.894	D|D	0.94454|0.94454	0.7670|0.7670	7|10	0.46703|0.54805	T|T	0.11|0.06	.|.	10.0238|10.0238	0.42059|0.42059	0.0:0.8983:0.0:0.1017|0.0:0.8983:0.0:0.1017	.|.	.|865;965	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	L|I	658|965;965;668	ENSP00000411705:F658L|ENSP00000354490:L965I;ENSP00000376066:L965I	ENSP00000411705:F658L|ENSP00000354490:L965I	F|L	+|+	3|1	2|0	ATP1A2|ATP1A2	158376106|158376106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.688000|4.688000	0.61715|0.61715	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	TTC|CTC		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		18	51	1	0	6.5e-13	9.46e-13	18	51				
RXRG	6258	broad.mit.edu	37	1	165378880	165378880	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:165378880C>T	ENST00000359842.5	-	7	1263	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	321	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CCATCCTGCACGGAAACTGAG	0.532																																						uc001gda.2		NA																	0					0						c.(961-963)GTG>ATG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						116.0	93.0	101.0					1																	165378880		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165378880C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.961G>A	1.37:g.165378880C>T	ENSP00000352900:p.Val321Met						p.V321M	NM_006917	NP_008848	P48443	RXRG_HUMAN			7	1261	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		321			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.961G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267452	0.80469	.	.	ENSG00000143171	ENST00000359842	D	0.96716	-4.1	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.75884	2.315	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.98498	1.0613	9	0.87932	D	0	.	17.0768	0.86588	0.0:1.0:0.0:0.0	.	321	P48443	RXRG_HUMAN	M	321	ENSP00000352900:V321M	ENSP00000352900:V321M	V	-	1	0	RXRG	163645504	1.000000	0.71417	0.925000	0.36789	0.991000	0.79684	5.625000	0.67770	2.585000	0.87301	0.655000	0.94253	GTG		0.532	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		8	21	0	0	0	0	8	21				
PTPRC	5788	broad.mit.edu	37	1	198685828	198685828	+	Missense_Mutation	SNP	C	C	G	rs372250925		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:198685828C>G	ENST00000367376.2	+	13	1474	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PTPRC_ENST00000352140.3_Missense_Mutation_p.L387V|PTPRC_ENST00000594404.1_Missense_Mutation_p.L274V|PTPRC_ENST00000442510.2_Missense_Mutation_p.L437V|PTPRC_ENST00000348564.6_Missense_Mutation_p.L276V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	435	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGCCTCAATCTGGATAAAAA	0.303																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1303-1305)CTG>GTG		protein tyrosine phosphatase, receptor type, C							43.0	47.0	46.0					1																	198685828		2202	4295	6497	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198685828C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1303C>G	1.37:g.198685828C>G	ENSP00000356346:p.Leu435Val					PTPRC_uc001gus.1_Missense_Mutation_p.L387V|PTPRC_uc001gut.1_Missense_Mutation_p.L274V|PTPRC_uc009wzf.1_Missense_Mutation_p.L323V|PTPRC_uc010ppg.1_Missense_Mutation_p.L371V	p.L435V	NM_002838	NP_002829	P08575	PTPRC_HUMAN			13	1483	+			435			Extracellular (Potential).|Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1303C>G		.	.	.	.	.	.	.	.	.	.	C	0.674	-0.800938	0.02841	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T	0.56941	0.6;0.43;0.43;0.43;0.43	4.32	-0.193	0.13244	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.189322	0.25692	N	0.028930	T	0.25494	0.0620	N	0.16266	0.395	0.09310	N	1	B;B;B;B;B	0.16396	0.007;0.017;0.003;0.003;0.003	B;B;B;B;B	0.23419	0.02;0.046;0.009;0.009;0.009	T	0.17623	-1.0363	10	0.07175	T	0.84	.	3.6399	0.08163	0.0:0.4168:0.1902:0.3929	.	371;371;276;387;435	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	V	437;371;387;387;321;435;369;274	ENSP00000193532:L387V;ENSP00000433536:L321V;ENSP00000411355:L435V;ENSP00000356337:L369V;ENSP00000306782:L274V	ENSP00000306782:L274V	L	+	1	2	PTPRC	196952451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.219000	0.09228	-0.030000	0.13804	-0.156000	0.13503	CTG		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				12	54	0	0	0	0	12	54				
DUSP10	11221	broad.mit.edu	37	1	221913036	221913036	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:221913036G>A	ENST00000366899.3	-	2	289	c.51C>T	c.(49-51)ccC>ccT	p.P17P	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	17					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGGTCGGACGGGCCTAGATA	0.517																																						uc001hmy.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(49-51)CCC>CCT		dual specificity phosphatase 10 isoform a							107.0	103.0	105.0					1																	221913036		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221913036G>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.51C>T	1.37:g.221913036G>A						DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.P17P	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	233	-			17					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.51C>T	CCDS1528.1																																																																																				0.517	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		33	76	0	0	0	0	33	76				
MAP10	54627	broad.mit.edu	37	1	232941709	232941709	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:232941709A>G	ENST00000418460.1	+	1	1067	c.940A>G	c.(940-942)Act>Gct	p.T314A		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	172					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GGGCGAGCGGACTGGGGACAT	0.692																																						uc001hvh.2		NA																	0				ovary(1)	1						c.(940-942)ACT>GCT		hypothetical protein LOC54627							17.0	20.0	19.0					1																	232941709		2072	4196	6268	SO:0001583	missense	54627							g.chr1:232941709A>G	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.940A>G	1.37:g.232941709A>G	ENSP00000403208:p.Thr314Ala						p.T314A	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1072	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	172					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.940A>G	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320534	0.23994	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.47	-1.11	0.09840	.	0.678637	0.12538	U	0.460213	T	0.25121	0.0610	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.20773	-1.0265	9	0.66056	D	0.02	-1.6708	6.2936	0.21073	0.2807:0.0:0.5593:0.16	.	172	Q9P2G4	K1383_HUMAN	A	314	.	ENSP00000403208:T314A	T	+	1	0	KIAA1383	231008332	0.001000	0.12720	0.009000	0.14445	0.011000	0.07611	0.488000	0.22371	-0.114000	0.11936	0.454000	0.30748	ACT		0.692	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		10	17	0	0	0	0	10	17				
LYZL2	119180	broad.mit.edu	37	10	30900884	30900884	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:30900884T>A	ENST00000375318.2	-	5	641	c.585A>T	c.(583-585)taA>taT	p.*195Y		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGTTCCAGTTTAGGAAACCT	0.517																																						uc001ivk.2		NA																	0					0						c.(583-585)TAA>TAT		lysozyme-like 2							284.0	262.0	269.0					10																	30900884		2203	4300	6503	SO:0001578	stop_lost	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30900884T>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.585A>T	10.37:g.30900884T>A							p.*195Y	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			5	598	-		Prostate(175;0.151)	195					Q6NZ69	Nonstop_Mutation	SNP	ENST00000375318.2	37	c.585A>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	T	2.756	-0.258984	0.05791	.	.	ENSG00000151033	ENST00000375318	.	.	.	1.9	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8205	0.18524	0.0:0.0:0.0:1.0	.	.	.	.	Y	195	.	.	X	-	3	2	LYZL2	30940890	0.017000	0.18338	0.056000	0.19401	0.048000	0.14542	3.076000	0.50081	1.118000	0.41863	0.260000	0.18958	TAA		0.517	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		81	156	0	0	0	0	81	156				
ZNF438	220929	broad.mit.edu	37	10	31139092	31139092	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:31139092G>A	ENST00000361310.3	-	6	571	c.242C>T	c.(241-243)gCc>gTc	p.A81V	ZNF438_ENST00000538351.2_Missense_Mutation_p.A32V|ZNF438_ENST00000413025.1_Missense_Mutation_p.A81V|ZNF438_ENST00000442986.1_Missense_Mutation_p.A81V|ZNF438_ENST00000452305.1_Missense_Mutation_p.A71V|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_Missense_Mutation_p.A71V|ZNF438_ENST00000436087.2_Missense_Mutation_p.A81V|ZNF438_ENST00000444692.2_Missense_Mutation_p.A71V			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	81					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGCATCAGGGCATAGTTCTG	0.532																																						uc010qdz.1		NA																	0				ovary(1)|breast(1)	2						c.(241-243)GCC>GTC		zinc finger protein 438 isoform a							127.0	125.0	126.0					10																	31139092		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31139092G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.242C>T	10.37:g.31139092G>A	ENSP00000354663:p.Ala81Val					ZNF438_uc001ivn.2_Missense_Mutation_p.A32V|ZNF438_uc010qdy.1_Missense_Mutation_p.A71V|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.A81V|ZNF438_uc001ivp.3_Missense_Mutation_p.A71V|ZNF438_uc010qea.1_Missense_Mutation_p.A81V|ZNF438_uc010qeb.1_Missense_Mutation_p.A81V|ZNF438_uc010qec.1_Intron	p.A81V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	677	-		Prostate(175;0.0587)	81					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.242C>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431508	0.96150	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.63	5.63	0.86233	.	0.093907	0.64402	D	0.000001	T	0.75759	0.3893	M	0.76002	2.32	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	P;D	0.64595	0.846;0.927	T	0.78119	-0.2328	10	0.87932	D	0	-10.5044	18.6635	0.91479	0.0:0.0:1.0:0.0	.	81;71	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	V	71;81;81;81;81;71;71;32	ENSP00000333571:A71V;ENSP00000354663:A81V;ENSP00000406934:A81V;ENSP00000412363:A81V;ENSP00000387546:A81V;ENSP00000413060:A71V;ENSP00000410898:A71V;ENSP00000445461:A32V	ENSP00000333571:A71V	A	-	2	0	ZNF438	31179098	1.000000	0.71417	0.614000	0.29051	0.954000	0.61252	9.059000	0.93902	2.655000	0.90218	0.655000	0.94253	GCC		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		4	116	0	0	0	0	4	116				
ANKRD30A	91074	broad.mit.edu	37	10	37508040	37508040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:37508040G>A	ENST00000602533.1	+	34	3331	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1078K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1197K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1134					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATACTTTGAGGACATTAA	0.338																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3232-3234)GAG>AAG		ankyrin repeat domain 30A							90.0	91.0	91.0					10																	37508040		1817	4060	5877	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508040G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3232G>A	10.37:g.37508040G>A	ENSP00000473551:p.Glu1078Lys						p.E1078K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3331	+			1134			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3232G>A		.	.	.	.	.	.	.	.	.	.	g	1.358	-0.589673	0.03799	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16743	2.32;2.32	2.81	2.81	0.32909	.	.	.	.	.	T	0.16769	0.0403	L	0.35542	1.07	0.09310	N	0.999999	P	0.48911	0.917	P	0.48704	0.587	T	0.08806	-1.0704	9	0.14252	T	0.57	.	11.074	0.48021	0.0:0.0:1.0:0.0	.	1134	Q9BXX3	AN30A_HUMAN	K	1078;1197	ENSP00000354432:E1078K;ENSP00000363792:E1197K	ENSP00000354432:E1078K	E	+	1	0	ANKRD30A	37548046	1.000000	0.71417	0.038000	0.18304	0.009000	0.06853	4.165000	0.58196	1.402000	0.46780	0.465000	0.42564	GAG		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		48	88	0	0	0	0	48	88				
CYP2C8	1558	broad.mit.edu	37	10	96818118	96818118	+	Missense_Mutation	SNP	C	C	G	rs551515028		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:96818118C>G	ENST00000371270.3	-	5	887	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179H|CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	265					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.D265N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AGGAAGCAATCGATAAAGTCC	0.358																																						uc001kkb.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(793-795)GAT>CAT		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						175.0	155.0	162.0					10																	96818118		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96818118C>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.793G>C	10.37:g.96818118C>G	ENSP00000360317:p.Asp265His					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.D195H|CYP2C8_uc010qob.1_Missense_Mutation_p.D179H|CYP2C8_uc010qoc.1_Missense_Mutation_p.D163H|CYP2C8_uc010qod.1_Missense_Mutation_p.D179H	p.D265H	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	5	888	-		Colorectal(252;0.0397)	265					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.793G>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578029	0.45902	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.16073	2.37;2.37;2.37	4.17	4.17	0.49024	.	0.000000	0.85682	U	0.000000	T	0.51618	0.1685	M	0.93420	3.415	0.49582	D	0.999805	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.989	T	0.66368	-0.5941	10	0.87932	D	0	.	14.2979	0.66327	0.0:1.0:0.0:0.0	.	179;163;233;265	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	H	265;232;163;179	ENSP00000360317:D265H;ENSP00000445062:D163H;ENSP00000442343:D179H	ENSP00000360317:D265H	D	-	1	0	CYP2C8	96808108	1.000000	0.71417	0.631000	0.29282	0.120000	0.20174	6.452000	0.73485	2.021000	0.59480	0.305000	0.20034	GAT		0.358	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	58	0	0	0	0	4	58				
SLIT1	6585	broad.mit.edu	37	10	98770859	98770859	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:98770859C>T	ENST00000266058.4	-	31	3477	c.3232G>A	c.(3232-3234)Gac>Aac	p.D1078N	SLIT1_ENST00000371070.4_Missense_Mutation_p.D1078N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1078	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCAGTTGTCACCTGCATAA	0.607																																						uc001kmw.2		NA																	0				ovary(4)	4						c.(3232-3234)GAC>AAC		slit homolog 1 precursor							113.0	69.0	84.0					10																	98770859		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98770859C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3232G>A	10.37:g.98770859C>T	ENSP00000266058:p.Asp1078Asn						p.D1078N	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	31	3484	-		Colorectal(252;0.162)	1078			EGF-like 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3232G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728749	0.48833	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.94687	-3.49;-3.49	4.9	3.03	0.35002	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.326232	0.34628	N	0.003810	D	0.91613	0.7350	L	0.39467	1.215	0.80722	D	1	P	0.40970	0.734	P	0.46885	0.53	D	0.87341	0.2331	10	0.30854	T	0.27	.	7.8927	0.29688	0.0:0.7055:0.1355:0.159	.	1078	O75093	SLIT1_HUMAN	N	1078	ENSP00000266058:D1078N;ENSP00000360109:D1078N	ENSP00000266058:D1078N	D	-	1	0	SLIT1	98760849	0.989000	0.36119	0.929000	0.37066	0.993000	0.82548	2.770000	0.47662	0.769000	0.33313	0.555000	0.69702	GAC		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	34	0	0	0	0	5	34				
CFAP58	159686	broad.mit.edu	37	10	106113661	106113661	+	Silent	SNP	T	T	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:106113661T>A	ENST00000369704.3	+	1	140	c.6T>A	c.(4-6)gcT>gcA	p.A2A	CCDC147-AS1_ENST00000435434.1_RNA|CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		2						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCAGGATGGCTGAGGTCAGGA	0.597											OREG0020519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(4-6)GCT>GCA		coiled-coil domain containing 147							82.0	70.0	74.0					10																	106113661		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106113661T>A																												ENST00000369704.3:c.6T>A	10.37:g.106113661T>A			OREG0020519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1394		p.A2A	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	1	140	+		Colorectal(252;0.103)|Breast(234;0.122)	2					D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.6T>A	CCDS31282.1																																																																																				0.597	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			20	32	0	0	0	0	20	32				
TACC2	10579	broad.mit.edu	37	10	123845099	123845099	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:123845099G>C	ENST00000369005.1	+	4	3424	c.3084G>C	c.(3082-3084)tgG>tgC	p.W1028C	TACC2_ENST00000334433.3_Missense_Mutation_p.W1028C|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.W1028C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.W1028C|TACC2_ENST00000515273.1_Missense_Mutation_p.W1028C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1028					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCCACTCTGGGGCTTGAGTA	0.562																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3082-3084)TGG>TGC		transforming, acidic coiled-coil containing							32.0	35.0	34.0					10																	123845099		2203	4297	6500	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845099G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3084G>C	10.37:g.123845099G>C	ENSP00000358001:p.Trp1028Cys					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.W1028C|TACC2_uc010qtv.1_Missense_Mutation_p.W1028C	p.W1028C	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3444	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1028					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3084G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528345	0.27299	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02863	4.14;4.13;4.13;4.14;4.13	5.8	1.4	0.22301	.	3.701350	0.00769	N	0.001181	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	P;P;P	0.44281	0.831;0.831;0.831	B;B;B	0.40741	0.339;0.339;0.339	T	0.27773	-1.0064	10	0.66056	D	0.02	12.1754	1.9187	0.03303	0.177:0.2177:0.4602:0.1452	.	1028;1028;1028	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	C	1028;1028;1028;1028;1028;1018	ENSP00000358001:W1028C;ENSP00000424467:W1028C;ENSP00000427618:W1028C;ENSP00000334280:W1028C;ENSP00000395048:W1028C	ENSP00000334280:W1028C	W	+	3	0	TACC2	123835089	0.922000	0.31269	0.015000	0.15790	0.146000	0.21551	0.987000	0.29603	0.785000	0.33685	0.549000	0.68633	TGG		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	41	0	0	0	0	12	41				
FAM53B	9679	broad.mit.edu	37	10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	rs140442850	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682																																						uc001lhv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1153-1155)GAG>AAG		hypothetical protein LOC9679		C	LYS/GLU	0,4400		0,0,2200	22.0	24.0	24.0		1153	3.0	0.2	10	dbSNP_134	24	2,8594		0,2,4296	yes	missense	FAM53B	NM_014661.3	56	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	385/423	126311927	2,12994	2200	4298	6498	SO:0001583	missense	9679							g.chr10:126311927C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1153G>A	10.37:g.126311927C>T	ENSP00000338532:p.Glu385Lys					FAM53B_uc001lhu.1_Intron	p.E385K	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1676	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	385					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1153G>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025506	0.19512	0.0	2.33E-4	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	4.89	3.0	0.34707	.	0.622254	0.14717	N	0.302565	T	0.30417	0.0764	L	0.44542	1.39	0.21147	N	0.99977	P	0.35700	0.516	B	0.28139	0.086	T	0.15122	-1.0448	9	0.48119	T	0.1	-22.5122	8.9129	0.35563	0.0:0.8252:0.0:0.1748	.	385	Q14153	FA53B_HUMAN	K	385	.	ENSP00000338532:E385K	E	-	1	0	FAM53B	126301917	0.056000	0.20664	0.171000	0.22900	0.045000	0.14185	2.153000	0.42282	1.291000	0.44653	0.655000	0.94253	GAG		0.682	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		7	25	0	0	0	0	7	25				
SIRT3	23410	broad.mit.edu	37	11	233115	233115	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:233115A>G	ENST00000382743.4	-	3	676	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000524564.1_Missense_Mutation_p.F128L|SIRT3_ENST00000532956.1_Missense_Mutation_p.F192L|SIRT3_ENST00000529382.1_Missense_Mutation_p.F50L|SIRT3_ENST00000525319.1_Missense_Mutation_p.F111L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	192	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		AAAGTGAAAAAGGGCTTGGGG	0.547																																						uc001lok.3		NA																	0				urinary_tract(1)	1						c.(574-576)TTT>CTT		sirtuin 3 isoform a							98.0	101.0	100.0					11																	233115		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233115A>G	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.574T>C	11.37:g.233115A>G	ENSP00000372191:p.Phe192Leu					SIRT3_uc001loj.3_Missense_Mutation_p.F50L|SIRT3_uc010qvm.1_Missense_Mutation_p.F128L|SIRT3_uc010qvn.1_Missense_Mutation_p.F111L|SIRT3_uc010qvo.1_Missense_Mutation_p.F192L|SIRT3_uc010qvp.1_Missense_Mutation_p.F192L|SIRT3_uc010qvq.1_Missense_Mutation_p.F50L|SIRT3_uc009ybt.1_RNA	p.F192L	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	608	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	192			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.574T>C	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	a	34	5.358681	0.95854	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	M	0.93375	3.41	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86682	0.1917	10	0.87932	D	0	-17.9326	14.3778	0.66889	1.0:0.0:0.0:0.0	.	192;192;111;128;192	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	L	192;111;128;192;50;50	ENSP00000372191:F192L;ENSP00000435464:F111L;ENSP00000432937:F128L;ENSP00000433077:F192L;ENSP00000437216:F50L;ENSP00000432857:F50L	ENSP00000372191:F192L	F	-	1	0	SIRT3	223115	1.000000	0.71417	0.784000	0.31847	0.987000	0.75469	9.251000	0.95483	1.993000	0.58246	0.529000	0.55759	TTT		0.547	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			3	61	0	0	0	0	3	61				
MUC5B	727897	broad.mit.edu	37	11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:1271273C>T	ENST00000529681.1	+	31	13221	c.13163C>T	c.(13162-13164)aCg>aTg	p.T4388M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4391M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662																																						uc009ycr.1		NA																	0					0						c.(14581-14583)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							83.0	98.0	93.0					11																	1271273		2064	4191	6255	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271273C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13163C>T	11.37:g.1271273C>T	ENSP00000436812:p.Thr4388Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T4391M	p.T4861M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14708	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4388			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14582C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.338	0.062091	0.08339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19669	2.13;2.31	2.64	1.66	0.24008	.	.	.	.	.	T	0.13415	0.0325	L	0.49126	1.545	0.09310	N	1	P;P	0.42456	0.78;0.78	B;B	0.23419	0.046;0.046	T	0.24225	-1.0166	9	0.87932	D	0	.	5.9635	0.19313	0.0:0.821:0.0:0.179	.	4861;4391	A7Y9J9;E9PBJ0	.;.	M	4388;4391;4332;4238;167	ENSP00000436812:T4388M;ENSP00000415793:T4391M	ENSP00000343037:T4332M	T	+	2	0	MUC5B	1227849	0.001000	0.12720	0.002000	0.10522	0.102000	0.19082	0.673000	0.25203	1.192000	0.43071	0.186000	0.17326	ACG		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		55	129	0	0	0	0	55	129				
OR52H1	390067	broad.mit.edu	37	11	5566547	5566547	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:5566547G>C	ENST00000322653.4	-	1	232	c.207C>G	c.(205-207)ttC>ttG	p.F69L	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGAGAAAGAAGAACATGG	0.473																																						uc010qzh.1		NA																	0				ovary(1)|breast(1)	2						c.(205-207)TTC>TTG		olfactory receptor, family 52, subfamily H,							88.0	75.0	80.0					11																	5566547		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566547G>C	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.207C>G	11.37:g.5566547G>C	ENSP00000326259:p.Phe69Leu					HBG2_uc001mak.1_Intron	p.F69L	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	207	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	69			Helical; Name=2; (Potential).		B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.207C>G	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	G	8.741	0.918917	0.17982	.	.	ENSG00000181616	ENST00000322653	T	0.00269	8.37	5.4	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.496373	0.20365	N	0.093764	T	0.00109	0.0003	N	0.11313	0.125	0.31848	N	0.622646	B	0.17038	0.02	B	0.16722	0.016	T	0.00145	-1.1993	10	0.06365	T	0.9	.	9.9904	0.41868	0.168:0.0:0.832:0.0	.	69	Q8NGJ2	O52H1_HUMAN	L	69	ENSP00000326259:F69L	ENSP00000326259:F69L	F	-	3	2	OR52H1	5523123	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-1.290000	0.02777	0.643000	0.30638	0.650000	0.86243	TTC		0.473	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		19	55	0	0	0	0	19	55				
OR10A2	341276	broad.mit.edu	37	11	6891450	6891450	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:6891450C>T	ENST00000307322.4	+	1	527	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTTTCCATTCTGTGGCACCA	0.537																																						uc001meu.1		NA																	0				breast(1)	1						c.(463-465)TTC>TTT		olfactory receptor, family 10, subfamily A,							130.0	118.0	122.0					11																	6891450		2201	4294	6495	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891450C>T	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.465C>T	11.37:g.6891450C>T							p.F155F	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	465	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	155			Extracellular (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.465C>T	CCDS31415.1																																																																																				0.537	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		33	114	0	0	0	0	33	114				
SLC1A2	6506	broad.mit.edu	37	11	35308446	35308446	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:35308446C>G	ENST00000278379.3	-	8	1426	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H	SLC1A2_ENST00000395753.1_Missense_Mutation_p.D373H|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D382H|SLC1A2_ENST00000395750.1_Missense_Mutation_p.D373H|SLC1A2_ENST00000479543.1_5'Flank	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	382					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.D382Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ACACGCTTATCAATCCCCAGA	0.458																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1144-1146)GAT>CAT		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						179.0	170.0	173.0					11																	35308446		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308446C>G	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1144G>C	11.37:g.35308446C>G	ENSP00000278379:p.Asp382His					SLC1A2_uc001mwe.2_Missense_Mutation_p.D373H|SLC1A2_uc010rev.1_Missense_Mutation_p.D382H	p.D382H	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1736	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	382					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1144G>C	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067394|5.067394	0.93898|0.93898	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82806|0.82806	0.5117|0.5117	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.99;1.0|.	T|T	0.82890|0.82890	-0.0233|-0.0233	10|5	0.87932|.	D|.	0|.	-23.2177|-23.2177	20.024|20.024	0.97514|0.97514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	382;382|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	H|F	382;373;373|99	ENSP00000278379:D382H;ENSP00000379099:D373H;ENSP00000379102:D373H|.	ENSP00000278379:D382H|.	D|L	-|-	1|3	0|2	SLC1A2|SLC1A2	35265022|35265022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	7.776000|7.776000	0.85560|0.85560	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|TTG		0.458	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		39	124	0	0	0	0	39	124				
MS4A2	2206	broad.mit.edu	37	11	59857261	59857261	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:59857261G>A	ENST00000278888.3	+	2	255	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	51					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATACATGGCTGACAGTTTTGA	0.468																																						uc001nop.2		NA																	0				ovary(1)	1						c.(151-153)CTG>CTA		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						83.0	81.0	81.0					11																	59857261		2201	4295	6496	SO:0001819	synonymous_variant	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857261G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.153G>A	11.37:g.59857261G>A						MS4A2_uc009ymu.2_Silent_p.L51L	p.L51L	NM_000139	NP_000130	Q01362	FCERB_HUMAN			2	255	+		all_epithelial(135;0.245)	51			Cytoplasmic (Potential).		Q54A81	Silent	SNP	ENST00000278888.3	37	c.153G>A	CCDS7980.1																																																																																				0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			23	44	0	0	0	0	23	44				
ANAPC15	25906	broad.mit.edu	37	11	71822259	71822259	+	Silent	SNP	G	G	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:71822259G>T	ENST00000227618.4	-	3	289	c.64C>A	c.(64-66)Cga>Aga	p.R22R	ANAPC15_ENST00000543587.1_Silent_p.R22R|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000535234.1_Silent_p.R22R|ANAPC15_ENST00000538393.1_Silent_p.R22R|ANAPC15_ENST00000545680.1_Silent_p.R22R|ANAPC15_ENST00000545944.1_Silent_p.R22R|ANAPC15_ENST00000543050.1_Silent_p.R22R|ANAPC15_ENST00000542531.1_Silent_p.R22R|ANAPC15_ENST00000538919.1_Silent_p.R22R|ANAPC15_ENST00000535503.1_Silent_p.R22R	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	22					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											ACACAGGGTCGATCCAGATTA	0.542																																						uc001orw.2		NA																	0					0						c.(64-66)CGA>AGA		hypothetical protein LOC25906							129.0	109.0	116.0					11																	71822259		2200	4293	6493	SO:0001819	synonymous_variant	25906					intracellular		g.chr11:71822259G>T	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.64C>A	11.37:g.71822259G>T						C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Silent_p.R22R	p.R22R	NM_014042	NP_054761	P60006	CK051_HUMAN			3	286	-			22					G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	c.64C>A	CCDS8210.1																																																																																				0.542	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		37	67	1	0	2.42e-17	3.55e-17	37	67				
CCDC83	220047	broad.mit.edu	37	11	85597249	85597249	+	Missense_Mutation	SNP	G	G	A	rs553174518		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:85597249G>A	ENST00000342404.3	+	5	566	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CCDC83_ENST00000280245.4_Missense_Mutation_p.R117H|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	117								p.R117H(2)|p.R117L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGATATGCGCATGCAAATA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		19021	0.001		0.0	False		,,,				2504	0.0					uc001pbh.1		NA																	3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)	skin(1)	1						c.(349-351)CGC>CAC		coiled-coil domain containing 83							61.0	56.0	58.0					11																	85597249		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85597249G>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.350G>A	11.37:g.85597249G>A	ENSP00000344512:p.Arg117His					CCDC83_uc001pbg.1_Missense_Mutation_p.R117H|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Intron	p.R117H	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			5	862	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	117			Potential.		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.350G>A		.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093801	0.07053	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.48201	0.83;0.82	5.26	4.35	0.52113	.	0.261751	0.34110	N	0.004242	T	0.37320	0.0999	L	0.50919	1.6	0.80722	D	1	P;P	0.36048	0.534;0.534	B;B	0.28991	0.067;0.097	T	0.16247	-1.0409	9	.	.	.	-0.2256	11.0699	0.47997	0.088:0.0:0.912:0.0	.	117;117	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	H	117	ENSP00000280245:R117H;ENSP00000344512:R117H	.	R	+	2	0	CCDC83	85274897	0.996000	0.38824	0.891000	0.34965	0.054000	0.15201	1.194000	0.32174	1.200000	0.43188	0.650000	0.86243	CGC		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		6	15	0	0	0	0	6	15				
GPR83	10888	broad.mit.edu	37	11	94134045	94134045	+	Silent	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:94134045G>C	ENST00000243673.2	-	1	540	c.369C>G	c.(367-369)ctC>ctG	p.L123L	GPR83_ENST00000539203.2_Silent_p.L123L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	123					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.L123L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGGGTGTTGAGCAGCGTGA	0.572																																						uc001pet.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(367-369)CTC>CTG		G protein-coupled receptor 83 precursor							62.0	59.0	60.0					11																	94134045		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134045G>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.369C>G	11.37:g.94134045G>C							p.L123L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			1	541	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	123			Helical; Name=2; (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.369C>G	CCDS8297.1																																																																																				0.572	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		12	28	0	0	0	0	12	28				
ROBO3	64221	broad.mit.edu	37	11	124750348	124750348	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:124750348C>T	ENST00000397801.1	+	27	4185	c.3993C>T	c.(3991-3993)ttC>ttT	p.F1331F	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Silent_p.F94F|ROBO3_ENST00000538940.1_Silent_p.F1309F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1331					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GACCAAGCTTCCTGTCCCGGG	0.662																																						uc001qbc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3991-3993)TTC>TTT		roundabout, axon guidance receptor, homolog 3							27.0	32.0	30.0					11																	124750348		2027	4189	6216	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750348C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3993C>T	11.37:g.124750348C>T						ROBO3_uc001qbd.2_Silent_p.F256F|ROBO3_uc010sar.1_Silent_p.F380F|ROBO3_uc001qbe.2_Silent_p.F256F|ROBO3_uc001qbf.1_Silent_p.F215F	p.F1331F	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4185	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1331			Cytoplasmic (Potential).			Silent	SNP	ENST00000397801.1	37	c.3993C>T	CCDS44755.1																																																																																				0.662	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		10	17	0	0	0	0	10	17				
ARHGAP32	9743	broad.mit.edu	37	11	128838895	128838895	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:128838895C>G	ENST00000310343.9	-	22	6170	c.6171G>C	c.(6169-6171)caG>caC	p.Q2057H	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1708H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1708H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2057	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGTCCTGCTCTGTGGATGGG	0.587																																						uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(6169-6171)CAG>CAC		Rho GTPase-activating protein isoform 1							42.0	36.0	38.0					11																	128838895		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128838895C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6171G>C	11.37:g.128838895C>G	ENSP00000310561:p.Gln2057His					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q1016H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1708H	p.Q2057H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	6171	-			2057			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6171G>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	1.412	-0.575270	0.03882	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.07567	3.18;3.18;3.18	5.56	-0.105	0.13601	.	0.304734	0.31784	N	0.007074	T	0.04407	0.0121	L	0.33485	1.01	0.24123	N	0.995799	B	0.16166	0.016	B	0.12156	0.007	T	0.41270	-0.9518	10	0.12766	T	0.61	.	2.7483	0.05273	0.1012:0.3868:0.1351:0.3768	.	2057	A7KAX9	RHG32_HUMAN	H	2057;1708;1708	ENSP00000310561:Q2057H;ENSP00000376425:Q1708H;ENSP00000432862:Q1708H	ENSP00000310561:Q2057H	Q	-	3	2	ARHGAP32	128344105	0.995000	0.38212	0.983000	0.44433	0.768000	0.43524	0.425000	0.21346	0.069000	0.16605	-0.142000	0.14014	CAG		0.587	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		7	25	0	0	0	0	7	25				
IGSF9B	22997	broad.mit.edu	37	11	133792107	133792107	+	Silent	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:133792107G>C	ENST00000321016.8	-	17	2522	c.2292C>G	c.(2290-2292)ctC>ctG	p.L764L	IGSF9B_ENST00000533871.2_Silent_p.L764L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	764					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGTGATGGAGAGTGGAGGGT	0.602																																						uc001qgx.3		NA																	0					0						c.(2290-2292)CTC>CTG		immunoglobulin superfamily, member 9B							57.0	65.0	63.0					11																	133792107		2066	4217	6283	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133792107G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2292C>G	11.37:g.133792107G>C							p.L764L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	17	2523	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	764			Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2292C>G																																																																																					0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	16	0	0	0	0	4	16				
CCND2	894	broad.mit.edu	37	12	4409145	4409145	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:4409145C>T	ENST00000261254.3	+	5	1109	c.840C>T	c.(838-840)acC>acT	p.T280T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	280					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AAGCCAGCACCCCTACAGACG	0.547			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2		NA		Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		0				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(838-840)ACC>ACT		cyclin D2							88.0	69.0	75.0					12																	4409145		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4409145C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.840C>T	12.37:g.4409145C>T							p.T280T	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		5	1145	+			280					A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.840C>T	CCDS8524.1																																																																																				0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		3	29	0	0	0	0	3	29				
GRIN2B	2904	broad.mit.edu	37	12	13722780	13722780	+	Silent	SNP	C	C	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:13722780C>A	ENST00000609686.1	-	11	2552	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	781					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAAAGAGCTGCAGGATAGCAA	0.488																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2341-2343)CTG>CTT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						73.0	60.0	65.0					12																	13722780		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13722780C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2343G>T	12.37:g.13722780C>A							p.L781L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			11	2522	-			781			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2343G>T	CCDS8662.1																																																																																				0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			18	46	1	0	1.34e-09	1.92e-09	18	46				
TBX5	6910	broad.mit.edu	37	12	114804166	114804166	+	Silent	SNP	G	G	C	rs375955080	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:114804166G>C	ENST00000310346.4	-	8	1452	c.786C>G	c.(784-786)acC>acG	p.T262T	TBX5_ENST00000349716.5_Silent_p.T212T|TBX5_ENST00000405440.2_Silent_p.T262T|TBX5_ENST00000526441.1_Silent_p.T262T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	262					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGCCTCACGGTGCTCCTGG	0.512																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(784-786)ACC>ACG		T-box 5 isoform 1							106.0	90.0	95.0					12																	114804166		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804166G>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.786C>G	12.37:g.114804166G>C						TBX5_uc001tvp.2_Silent_p.T262T|TBX5_uc001tvq.2_Silent_p.T212T|TBX5_uc010syv.1_Silent_p.T262T	p.T262T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1281	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		262					A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.786C>G	CCDS9173.1																																																																																				0.512	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		4	88	0	0	0	0	4	88				
RNF10	9921	broad.mit.edu	37	12	120972767	120972767	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:120972767G>C	ENST00000325954.4	+	1	614	c.153G>C	c.(151-153)aaG>aaC	p.K51N	RNF10_ENST00000413266.2_Missense_Mutation_p.K51N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	51	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAACCCAAGAGCGGTAAGG	0.701																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(151-153)AAG>AAC		ring finger protein 10							10.0	14.0	12.0					12																	120972767		2158	4217	6375	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120972767G>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.153G>C	12.37:g.120972767G>C	ENSP00000322242:p.Lys51Asn					RNF10_uc010szk.1_RNA	p.K51N	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			1	636	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		51			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.153G>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273223	0.59649	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266	D;D	0.90133	-2.62;-2.62	5.08	4.15	0.48705	.	0.169147	0.52532	D	0.000076	T	0.81317	0.4797	L	0.39020	1.185	0.58432	D	0.999996	P	0.38250	0.624	B	0.32864	0.154	T	0.75811	-0.3186	10	0.12103	T	0.63	.	7.9316	0.29905	0.265:0.0:0.735:0.0	.	51	Q8N5U6	RNF10_HUMAN	N	51	ENSP00000322242:K51N;ENSP00000415682:K51N	ENSP00000322242:K51N	K	+	3	2	RNF10	119457150	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	2.243000	0.43115	1.276000	0.44395	-0.367000	0.07326	AAG		0.701	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			8	26	0	0	0	0	8	26				
ORAI1	84876	broad.mit.edu	37	12	122079382	122079382	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:122079382G>A	ENST00000330079.7	+	2	938	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	247					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGTGCCCTTCGGCCTGATCTT	0.627																																						uc010szz.1		NA																	0					0						c.(739-741)GGC>AGC		calcium release-activated calcium channel							69.0	83.0	78.0					12																	122079382		2187	4277	6464	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079382G>A	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.745G>A	12.37:g.122079382G>A	ENSP00000328216:p.Gly249Ser						p.G247S	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	932	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		247			Helical; (Potential).		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.739G>A	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044916	0.55110	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.43294	0.95;0.95	5.22	5.22	0.72569	.	0.046821	0.85682	D	0.000000	T	0.65165	0.2665	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.67628	-0.5622	10	0.59425	D	0.04	-52.0285	19.1239	0.93375	0.0:0.0:1.0:0.0	.	247	Q96D31	CRCM1_HUMAN	S	249;144	ENSP00000328216:G249S;ENSP00000441198:G144S	ENSP00000328216:G249S	G	+	1	0	ORAI1	120563765	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	9.813000	0.99286	2.609000	0.88269	0.591000	0.81541	GGC		0.627	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		28	56	0	0	0	0	28	56				
MYCBP2	23077	broad.mit.edu	37	13	77715011	77715011	+	Silent	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr13:77715011G>C	ENST00000544440.2	-	50	7274	c.7257C>G	c.(7255-7257)gtC>gtG	p.V2419V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.V2457V|MYCBP2_ENST00000357337.6_Silent_p.V2419V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACTTTGGTTTGACCAACTGAG	0.408																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7255-7257)GTC>GTG		MYC binding protein 2							246.0	248.0	248.0					13																	77715011		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77715011G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7257C>G	13.37:g.77715011G>C						MYCBP2_uc010aev.2_Silent_p.V1823V	p.V2419V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	51	7348	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2419						Silent	SNP	ENST00000544440.2	37	c.7257C>G																																																																																					0.408	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		66	179	0	0	0	0	66	179				
OR4K2	390431	broad.mit.edu	37	14	20345329	20345329	+	Silent	SNP	G	G	C	rs540643299	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr14:20345329G>C	ENST00000298642.2	+	1	939	c.903G>C	c.(901-903)ctG>ctC	p.L301L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGGAAACTGAAAAATAGGT	0.348																																						uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(901-903)CTG>CTC		olfactory receptor, family 4, subfamily K,							63.0	68.0	66.0					14																	20345329		2203	4299	6502	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345329G>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.903G>C	14.37:g.20345329G>C							p.L301L	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	903	+	all_cancers(95;0.00108)		301			Cytoplasmic (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.903G>C	CCDS32023.1																																																																																				0.348	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			20	20	0	0	0	0	20	20				
RALGAPA1	253959	broad.mit.edu	37	14	36097115	36097115	+	Missense_Mutation	SNP	C	C	T	rs368647084		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr14:36097115C>T	ENST00000389698.3	-	33	4910	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1507H|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1554H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1520H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1507	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATAACAGTGCGGGCTGCTAT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.0		0.0	False		,,,				2504	0.001					uc001wti.2		NA																	0				ovary(3)|breast(1)	4						c.(4519-4521)CGC>CAC		Ral GTPase activating protein, alpha subunit 1		C	HIS/ARG,HIS/ARG	0,4386		0,0,2193	53.0	58.0	56.0		4520,4520	5.4	1.0	14		56	1,8587		0,1,4293	no	missense,missense	RALGAPA1	NM_014990.1,NM_194301.2	29,29	0,1,6486	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1507/2037,1507/2084	36097115	1,12973	2193	4294	6487	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36097115C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4520G>A	14.37:g.36097115C>T	ENSP00000374348:p.Arg1507His					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1507H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1520H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1554H	p.R1507H	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			33	4911	-			1507			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4520G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668735	0.88348	0.0	1.16E-4	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.37	5.37	0.77165	.	0.046435	0.85682	D	0.000000	T	0.58438	0.2122	L	0.55834	1.745	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.995;0.982;0.987	D;P;P;P	0.87578	0.998;0.849;0.664;0.777	T	0.59674	-0.7410	10	0.87932	D	0	-7.6732	19.4725	0.94969	0.0:1.0:0.0:0.0	.	1554;1520;1507;1507	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1507;1507;1507;1554;145;1520;1554	ENSP00000374348:R1507H;ENSP00000302647:R1507H;ENSP00000258840:R1554H;ENSP00000451133:R145H;ENSP00000371803:R1520H;ENSP00000451877:R1554H	ENSP00000258840:R1554H	R	-	2	0	RALGAPA1	35166866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.659000	0.90383	0.655000	0.94253	CGC		0.398	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		45	35	0	0	0	0	45	35				
TJP1	7082	broad.mit.edu	37	15	30011032	30011032	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:30011032G>C	ENST00000346128.6	-	21	3788	c.3314C>G	c.(3313-3315)cCt>cGt	p.P1105R	TJP1_ENST00000545208.2_Missense_Mutation_p.P1025R|TJP1_ENST00000400011.2_Missense_Mutation_p.P1029R|TJP1_ENST00000356107.6_Missense_Mutation_p.P1105R	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1105					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATTATCAAAAGGTGGCCGAGA	0.493																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(3313-3315)CCT>CGT		tight junction protein 1 isoform a							212.0	213.0	213.0					15																	30011032		2092	4211	6303	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30011032G>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3314C>G	15.37:g.30011032G>C	ENSP00000281537:p.Pro1105Arg					TJP1_uc010azl.2_Missense_Mutation_p.P1093R|TJP1_uc001zcq.2_Missense_Mutation_p.P1029R|TJP1_uc001zcs.2_Missense_Mutation_p.P1025R	p.P1105R	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3789	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1105					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3314C>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991957	0.35131	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T	0.09817	3.34;3.44;2.94	4.79	4.79	0.61399	.	0.484897	0.23650	N	0.045925	T	0.12860	0.0312	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.27853	0.037;0.191;0.072;0.045	B;B;B;B	0.32149	0.031;0.141;0.063;0.034	T	0.09037	-1.0693	10	0.45353	T	0.12	.	18.0183	0.89248	0.0:0.0:1.0:0.0	.	1098;1025;1105;1029	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	R	1105;1029;1105;1025;1025	ENSP00000281537:P1105R;ENSP00000382890:P1029R;ENSP00000441202:P1105R	ENSP00000281537:P1105R	P	-	2	0	TJP1	27798324	1.000000	0.71417	0.501000	0.27601	0.381000	0.30169	4.853000	0.62911	2.484000	0.83849	0.561000	0.74099	CCT		0.493	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		4	162	0	0	0	0	4	162				
EHD4	30844	broad.mit.edu	37	15	42192864	42192864	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:42192864C>A	ENST00000220325.4	-	6	1688	c.1605G>T	c.(1603-1605)aaG>aaT	p.K535N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	535	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGGCAGGGACTTCCTGTGCG	0.667																																						uc001zot.2		NA																	0				ovary(2)	2						c.(1603-1605)AAG>AAT		EH-domain containing 4							16.0	17.0	17.0					15																	42192864		2201	4295	6496	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192864C>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1605G>T	15.37:g.42192864C>A	ENSP00000220325:p.Lys535Asn						p.K535N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1668	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	535			EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1605G>T	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911813	0.52439	.	.	ENSG00000103966	ENST00000220325	T	0.18502	2.21	4.67	1.59	0.23543	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.149456	0.64402	D	0.000019	T	0.10594	0.0259	L	0.42529	1.33	0.47341	D	0.999394	B	0.31413	0.322	B	0.25759	0.063	T	0.16041	-1.0416	10	0.34782	T	0.22	-30.4028	3.4582	0.07523	0.1825:0.4619:0.0:0.3555	.	535	Q9H223	EHD4_HUMAN	N	535	ENSP00000220325:K535N	ENSP00000220325:K535N	K	-	3	2	EHD4	39980156	1.000000	0.71417	0.996000	0.52242	0.742000	0.42306	1.431000	0.34925	0.477000	0.27464	0.411000	0.27672	AAG		0.667	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		11	10	1	0	3.86e-05	5.35e-05	11	10				
SH3GL3	6457	broad.mit.edu	37	15	84286874	84286874	+	Silent	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:84286874C>G	ENST00000427482.2	+	9	1185	c.879C>G	c.(877-879)ctC>ctG	p.L293L	SH3GL3_ENST00000324537.5_Silent_p.L301L|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.L301L	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	293	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCGTGGTCTCTATGACTTTG	0.398																																						uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(877-879)CTC>CTG		SH3-domain GRB2-like 3							84.0	82.0	83.0					15																	84286874		2203	4300	6503	SO:0001819	synonymous_variant	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84286874C>G	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.879C>G	15.37:g.84286874C>G						SH3GL3_uc002bjx.2_Silent_p.L224L|SH3GL3_uc002bju.2_Silent_p.L301L|SH3GL3_uc002bjv.2_RNA	p.L293L	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			9	1074	+			293			SH3.		O43553|O43554	Silent	SNP	ENST00000427482.2	37	c.879C>G	CCDS10325.2																																																																																				0.398	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		20	49	0	0	0	0	20	49				
PDE8A	5151	broad.mit.edu	37	15	85669605	85669605	+	Splice_Site	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:85669605G>A	ENST00000310298.4	+	21	2505	c.2253G>A	c.(2251-2253)caG>caA	p.Q751Q	PDE8A_ENST00000557957.1_Splice_Site_p.Q679Q|PDE8A_ENST00000394553.1_Splice_Site_p.Q751Q|PDE8A_ENST00000339708.5_Splice_Site_p.Q705Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	751	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATTTTTCTCAGGTAAGTTGCT	0.418																																						uc002blh.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2251-2253)CAG>CAA		phosphodiesterase 8A isoform 1							65.0	66.0	66.0					15																	85669605		2203	4299	6502	SO:0001630	splice_region_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85669605G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2253+1G>A	15.37:g.85669605G>A						PDE8A_uc002bli.2_Silent_p.Q705Q|PDE8A_uc010bnc.2_Silent_p.Q504Q|PDE8A_uc010bnd.2_Silent_p.Q504Q|PDE8A_uc002blj.2_Silent_p.Q371Q|PDE8A_uc002blk.2_Silent_p.Q371Q|PDE8A_uc002bll.2_Silent_p.Q103Q	p.Q751Q	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		20	2442	+	Colorectal(223;0.227)		751			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.2253G>A	CCDS10336.1																																																																																				0.418	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	Silent	18	58	0	0	0	0	18	58				
AGBL1	123624	broad.mit.edu	37	15	86687068	86687068	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:86687068G>A	ENST00000441037.2	+	2	211	c.116G>A	c.(115-117)gGc>gAc	p.G39D	AGBL1_ENST00000421325.2_Missense_Mutation_p.G39D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	39					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCCAAAGTTGGCCTAAGAGGT	0.522																																						uc002blz.1		NA																	0					0						c.(115-117)GGC>GAC		ATP/GTP binding protein-like 1							76.0	80.0	79.0					15																	86687068		2001	4171	6172	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86687068G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.116G>A	15.37:g.86687068G>A	ENSP00000413001:p.Gly39Asp						p.G39D	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			2	196	+			39					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.116G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090734	0.76756	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.64803	-0.12	5.61	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.77545	0.4146	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.81033	-0.1116	9	0.87932	D	0	-16.9771	12.7269	0.57176	0.0:0.1653:0.8347:0.0	.	39	Q96MI9	CBPC4_HUMAN	D	68;39	ENSP00000397173:G39D	ENSP00000397173:G39D	G	+	2	0	AGBL1	84488072	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	7.675000	0.84002	1.466000	0.48025	0.655000	0.94253	GGC		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		17	39	0	0	0	0	17	39				
TICRR	90381	broad.mit.edu	37	15	90143870	90143870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:90143870C>T	ENST00000268138.7	+	9	2212	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.R702*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	703					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TAAAAGTCTTCGACAGAATCT	0.303																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2107-2109)CGA>TGA		leucine-rich repeat kinase 1							37.0	35.0	36.0					15																	90143870		1797	4063	5860	SO:0001587	stop_gained	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90143870C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2107C>T	15.37:g.90143870C>T	ENSP00000268138:p.Arg703*						p.R703*	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		9	2107	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		703					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.2107C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	38	7.041872	0.98021	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.35	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.115	13.1526	0.59498	0.5689:0.4311:0.0:0.0	.	.	.	.	X	703	.	ENSP00000268138:R703X	R	+	1	2	C15orf42	87944874	0.990000	0.36364	0.986000	0.45419	0.987000	0.75469	1.403000	0.34612	0.669000	0.31146	0.655000	0.94253	CGA		0.303	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		6	19	0	0	0	0	6	19				
PDIA2	64714	broad.mit.edu	37	16	335330	335330	+	Missense_Mutation	SNP	G	G	A	rs367835970	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:335330G>A	ENST00000219406.6	+	6	832	c.814G>A	c.(814-816)Gcg>Acg	p.A272T	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.A269T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	272					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAAGATCTTCGCGGCCAGGAT	0.642													g|||	3	0.000599042	0.0023	0.0	5008	,	,		13636	0.0		0.0	False		,,,				2504	0.0					uc002cgn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(814-816)GCG>ACG		protein disulfide isomerase A2 precursor			THR/ALA	1,4199		0,1,2099	42.0	48.0	46.0		814	3.0	0.9	16		46	0,8430		0,0,4215	no	missense	PDIA2	NM_006849.2	58	0,1,6314	AA,AG,GG		0.0,0.0238,0.0079	benign	272/526	335330	1,12629	2100	4215	6315	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335330G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.814G>A	16.37:g.335330G>A	ENSP00000219406:p.Ala272Thr					PDIA2_uc010bqt.1_Missense_Mutation_p.A117T|PDIA2_uc002cgo.1_Missense_Mutation_p.A272T	p.A272T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			11	1922	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	272					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.814G>A	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	13.95	2.389987	0.42410	2.38E-4	0.0	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.13538	2.58;2.58	3.97	2.99	0.34606	Thioredoxin-like fold (1);	0.516289	0.19798	N	0.105804	T	0.11239	0.0274	L	0.33485	1.01	0.28003	N	0.935203	B	0.29037	0.231	B	0.26094	0.066	T	0.12604	-1.0541	10	0.56958	D	0.05	.	11.8357	0.52323	0.0:0.0:0.8231:0.1769	.	272	Q13087	PDIA2_HUMAN	T	272;241;269	ENSP00000219406:A272T;ENSP00000384410:A269T	ENSP00000219406:A272T	A	+	1	0	PDIA2	275331	0.394000	0.25246	0.928000	0.36995	0.665000	0.39181	2.692000	0.47018	0.871000	0.35750	0.556000	0.70494	GCG		0.642	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		11	40	0	0	0	0	11	40				
FBXL16	146330	broad.mit.edu	37	16	745785	745785	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:745785C>T	ENST00000397621.1	-	3	1103	c.772G>A	c.(772-774)Gac>Aac	p.D258N	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Missense_Mutation_p.D46N|FBXL16_ENST00000324361.5_Missense_Mutation_p.D258N	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	258										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCGATGGCGTCGTCGGCCACG	0.687																																						uc002cjc.2		NA																	0					0						c.(772-774)GAC>AAC		F-box and leucine-rich repeat protein 16							37.0	34.0	35.0					16																	745785		2198	4294	6492	SO:0001583	missense	146330							g.chr16:745785C>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.772G>A	16.37:g.745785C>T	ENSP00000380746:p.Asp258Asn					FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Missense_Mutation_p.D46N	p.D258N	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			4	975	-		Hepatocellular(780;0.0218)	258			LRR 1.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.772G>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.281970	0.80692	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.02421	4.3;4.3	4.68	4.68	0.58851	.	0.103637	0.64402	D	0.000004	T	0.08223	0.0205	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.63488	0.915	T	0.51631	-0.8681	10	0.20046	T	0.44	.	16.3235	0.82964	0.0:1.0:0.0:0.0	.	258	Q8N461	FXL16_HUMAN	N	258	ENSP00000380746:D258N;ENSP00000318674:D258N	ENSP00000318674:D258N	D	-	1	0	FBXL16	685786	1.000000	0.71417	0.977000	0.42913	0.965000	0.64279	7.524000	0.81866	2.427000	0.82271	0.561000	0.74099	GAC		0.687	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		20	30	0	0	0	0	20	30				
SH2B1	25970	broad.mit.edu	37	16	28883683	28883683	+	Silent	SNP	T	T	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:28883683T>G	ENST00000322610.8	+	9	2125	c.1686T>G	c.(1684-1686)ggT>ggG	p.G562G	SH2B1_ENST00000337120.5_Silent_p.G562G|SH2B1_ENST00000395532.4_Silent_p.G562G|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Silent_p.G562G|SH2B1_ENST00000545570.1_Silent_p.G252G|SH2B1_ENST00000538342.1_Silent_p.G226G			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	562	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAAGGCGGGGTGAATACGTCC	0.612																																						uc002dri.2		NA																	0				ovary(2)	2						c.(1684-1686)GGT>GGG		SH2B adaptor protein 1 isoform 1							58.0	58.0	58.0					16																	28883683		2197	4300	6497	SO:0001819	synonymous_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883683T>G	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1686T>G	16.37:g.28883683T>G						uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.G252G|SH2B1_uc002drj.2_Silent_p.G562G|SH2B1_uc002drk.2_Silent_p.G562G|SH2B1_uc002drl.2_Silent_p.G562G|SH2B1_uc010vdd.1_Silent_p.G226G|SH2B1_uc010vde.1_Silent_p.G562G|SH2B1_uc002drm.2_Silent_p.G562G	p.G562G	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			9	2125	+			562			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.1686T>G	CCDS53996.1																																																																																				0.612	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		4	60	0	0	0	0	4	60				
ATP2A1	487	broad.mit.edu	37	16	28906160	28906160	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:28906160G>A	ENST00000357084.3	+	12	1572	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	ATP2A1_ENST00000536376.1_Silent_p.E310E|ATP2A1_ENST00000395503.4_Silent_p.E435E	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	435					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GTGTCTATGAGAAGGTCGGCG	0.567																																						uc002dro.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1303-1305)GAG>GAA		ATPase, Ca++ transporting, fast twitch 1 isoform							60.0	51.0	54.0					16																	28906160		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28906160G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1305G>A	16.37:g.28906160G>A						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.E435E|ATP2A1_uc002drp.1_Silent_p.E310E	p.E435E	NM_173201	NP_775293	O14983	AT2A1_HUMAN			12	1489	+			435			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1305G>A	CCDS10643.1																																																																																				0.567	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		17	41	0	0	0	0	17	41				
ZNF668	79759	broad.mit.edu	37	16	31073297	31073297	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:31073297G>A	ENST00000538906.1	-	3	1736	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	ZNF668_ENST00000300849.4_Missense_Mutation_p.R318W|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R341W|ZNF668_ENST00000539836.3_Missense_Mutation_p.R341W|ZNF668_ENST00000535577.1_Missense_Mutation_p.R318W|ZNF668_ENST00000417110.2_Missense_Mutation_p.R162Q|ZNF668_ENST00000394983.2_Missense_Mutation_p.R318W	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCGGCTGCCGGAAGTCCTTG	0.662																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NA																	0				breast(4)	4						c.(952-954)CGG>TGG		zinc finger protein 668							30.0	28.0	29.0					16																	31073297		2195	4292	6487	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073297G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.952C>T	16.37:g.31073297G>A	ENSP00000440149:p.Arg318Trp					ZNF668_uc002eao.2_Missense_Mutation_p.R318W	p.R318W	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1309	-			318			C2H2-type 10.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.952C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902645|2.902645	0.52227|0.52227	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.18174	.|2.23;2.23;2.23;2.23;2.23	5.76|5.76	2.57|2.57	0.30868|0.30868	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.39306|0.39306	0.1073|0.1073	M|M	0.77616|0.77616	2.38|2.38	0.48696|0.48696	D|D	0.999698|0.999698	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.26258|0.26258	-1.0108|-1.0108	7|10	0.87932|0.66056	D|D	0|0.02	-17.4981|-17.4981	10.7487|10.7487	0.46196|0.46196	0.0:0.1275:0.6083:0.2642|0.0:0.1275:0.6083:0.2642	.|.	.|318	.|Q96K58	.|ZN668_HUMAN	Q|W	162|341;318;318;318;318	.|ENSP00000442573:R341W;ENSP00000441349:R318W;ENSP00000440149:R318W;ENSP00000378434:R318W;ENSP00000300849:R318W	ENSP00000391989:R162Q|ENSP00000300849:R318W	R|R	+|-	2|1	0|2	AC135050.1|ZNF668	30980798|30980798	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.334000|0.334000	0.28698|0.28698	1.781000|1.781000	0.38644|0.38644	0.776000|0.776000	0.33473|0.33473	-0.844000|-0.844000	0.03045|0.03045	CGG|CGG		0.662	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		10	34	0	0	0	0	10	34				
TANGO6	79613	broad.mit.edu	37	16	69007962	69007962	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:69007962G>C	ENST00000261778.1	+	15	2745	c.2733G>C	c.(2731-2733)gaG>gaC	p.E911D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	911						integral component of membrane (GO:0016021)											TCTATCCTGAGAAAATCTTGC	0.458																																						uc002ewi.3		NA																	0					0						c.(2731-2733)GAG>GAC		transmembrane and coiled-coil domains 7							77.0	77.0	77.0					16																	69007962		1931	4142	6073	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:69007962G>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2733G>C	16.37:g.69007962G>C	ENSP00000261778:p.Glu911Asp						p.E911D	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	15	2745	+		Ovarian(137;0.0568)	911					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2733G>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692548	0.48202	.	.	ENSG00000103047	ENST00000261778	T	0.66995	-0.24	5.59	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.142736	0.64402	D	0.000008	T	0.51227	0.1662	L	0.45051	1.395	0.41122	D	0.985821	P	0.42296	0.775	B	0.39660	0.306	T	0.44667	-0.9313	10	0.25751	T	0.34	-11.3192	4.3651	0.11220	0.2413:0.1765:0.5822:0.0	.	911	Q9C0B7	TMCO7_HUMAN	D	911	ENSP00000261778:E911D	ENSP00000261778:E911D	E	+	3	2	TMCO7	67565463	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	0.882000	0.28186	1.170000	0.42753	0.650000	0.86243	GAG		0.458	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		11	23	0	0	0	0	11	23				
MTHFSD	64779	broad.mit.edu	37	16	86580199	86580199	+	Silent	SNP	T	T	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:86580199T>C	ENST00000360900.6	-	5	433	c.408A>G	c.(406-408)ttA>ttG	p.L136L	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Silent_p.L135L|MTHFSD_ENST00000381214.5_Silent_p.L136L|MTHFSD_ENST00000568037.1_5'Flank|MTHFSD_ENST00000543303.2_Silent_p.L135L	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	136							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CCACCACAACTAAATCCACGA	0.537																																						uc002fjn.2		NA																	0					0						c.(406-408)TTA>TTG		methenyltetrahydrofolate synthetase domain							113.0	116.0	115.0					16																	86580199		1972	4143	6115	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86580199T>C	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.408A>G	16.37:g.86580199T>C						MTHFSD_uc010voo.1_Silent_p.L116L|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Silent_p.L135L|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Silent_p.L135L|MTHFSD_uc010vor.1_Silent_p.L136L|MTHFSD_uc002fjp.2_Silent_p.L116L	p.L136L	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			5	459	-			136					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.408A>G	CCDS54047.1																																																																																				0.537	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		3	101	0	0	0	0	3	101				
TRPV1	7442	broad.mit.edu	37	17	3475479	3475479	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:3475479G>A	ENST00000571088.1	-	14	2381	c.2168C>T	c.(2167-2169)tCa>tTa	p.S723L	TRPV1_ENST00000425167.2_Missense_Mutation_p.S734L|TRPV1_ENST00000399759.3_Missense_Mutation_p.S723L|TRPV1_ENST00000310522.5_Missense_Mutation_p.S663L|TRPV1_ENST00000174621.6_Missense_Mutation_p.S721L|SHPK_ENST00000572705.1_Missense_Mutation_p.S723L|TRPV1_ENST00000399756.4_Missense_Mutation_p.S723L|TRPV1_ENST00000576351.1_Missense_Mutation_p.S713L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	723					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGCTTGCCTGAGCGGAAGGC	0.592																																					Melanoma(38;962 1762 15789)	uc010vrr.1		NA																	0				ovary(1)	1						c.(2167-2169)TCA>TTA		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						71.0	74.0	73.0					17																	3475479		2092	4221	6313	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3475479G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2168C>T	17.37:g.3475479G>A	ENSP00000461007:p.Ser723Leu					TRPV1_uc010vro.1_Missense_Mutation_p.S734L|TRPV1_uc010vrp.1_Missense_Mutation_p.S663L|TRPV1_uc010vrq.1_Missense_Mutation_p.S721L|TRPV1_uc010vrs.1_Missense_Mutation_p.S723L|TRPV1_uc010vrt.1_Missense_Mutation_p.S723L|TRPV1_uc010vru.1_Missense_Mutation_p.S723L	p.S723L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	13	2695	-			723			Cytoplasmic (Potential).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.2168C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923753	0.73213	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.05	5.05	0.67936	.	0.061993	0.64402	D	0.000003	D	0.92938	0.7753	L	0.54908	1.71	0.47994	D	0.999568	P;D;P;D	0.89917	0.898;0.97;0.822;1.0	P;P;P;D	0.83275	0.758;0.718;0.642;0.996	D	0.92460	0.5977	10	0.44086	T	0.13	-8.0556	17.7815	0.88524	0.0:0.0:1.0:0.0	.	723;721;663;734	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	723;723;721;734;663	ENSP00000382661:S723L;ENSP00000382659:S723L;ENSP00000174621:S721L;ENSP00000409627:S734L;ENSP00000311692:S663L	ENSP00000174621:S721L	S	-	2	0	TRPV1	3422229	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.037000	0.64170	2.503000	0.84419	0.655000	0.94253	TCA		0.592	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		7	22	0	0	0	0	7	22				
RNF167	26001	broad.mit.edu	37	17	4847869	4847869	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:4847869C>T	ENST00000262482.6	+	9	1343	c.687C>T	c.(685-687)gtC>gtT	p.V229V	RNF167_ENST00000576229.1_Silent_p.V194V|RNF167_ENST00000571816.1_Silent_p.V229V|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000575111.1_Silent_p.V229V|RNF167_ENST00000572430.1_Silent_p.V229V	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	229					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						AGTATGATGTCTGTGCCATTT	0.517																																						uc002fzq.2		NA																	0					0						c.(685-687)GTC>GTT		ring finger protein 167 precursor							132.0	111.0	118.0					17																	4847869		2203	4300	6503	SO:0001819	synonymous_variant	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4847869C>T	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.687C>T	17.37:g.4847869C>T						RNF167_uc002fzr.2_Silent_p.V229V|RNF167_uc002fzs.2_Silent_p.V229V|RNF167_uc002fzt.2_Silent_p.V229V|RNF167_uc002fzu.2_Silent_p.V228V|RNF167_uc002fzv.2_Silent_p.V194V|RNF167_uc002fzx.2_Silent_p.V193V|RNF167_uc002fzy.2_Missense_Mutation_p.S3F	p.V229V	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN			10	1103	+			229					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	ENST00000262482.6	37	c.687C>T	CCDS11060.1																																																																																				0.517	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		20	84	0	0	0	0	20	84				
USP6	9098	broad.mit.edu	37	17	5048764	5048764	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:5048764G>A	ENST00000574788.1	+	27	4287	c.2057G>A	c.(2056-2058)aGa>aAa	p.R686K	USP6_ENST00000332776.4_Missense_Mutation_p.R686K|USP6_ENST00000304328.5_Missense_Mutation_p.R369K|USP6_ENST00000250066.6_Missense_Mutation_p.R686K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	686	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCAGCTAAGATCTCAAGTC	0.373			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2056-2058)AGA>AAA		ubiquitin specific protease 6							136.0	122.0	127.0					17																	5048764		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048764G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2057G>A	17.37:g.5048764G>A	ENSP00000460380:p.Arg686Lys					USP6_uc002gav.1_Missense_Mutation_p.R686K|USP6_uc010ckz.1_Missense_Mutation_p.R369K	p.R686K	NM_004505	NP_004496	P35125	UBP6_HUMAN			27	4287	+			686					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2057G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	0.948	-0.707472	0.03230	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.26957	1.7;1.7;1.7	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.083629	0.85682	D	0.000000	T	0.09335	0.0230	N	0.02985	-0.445	0.38064	D	0.936173	B;B	0.22080	0.006;0.064	B;B	0.28991	0.005;0.097	T	0.24190	-1.0167	10	0.02654	T	1	.	10.4264	0.44380	0.0:0.0:1.0:0.0	.	369;686	P35125-2;P35125	.;UBP6_HUMAN	K	686;686;369	ENSP00000328010:R686K;ENSP00000250066:R686K;ENSP00000305473:R369K	ENSP00000250066:R686K	R	+	2	0	USP6	4989488	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.405000	0.59741	1.318000	0.45170	0.194000	0.17425	AGA		0.373	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		19	47	0	0	0	0	19	47				
LLGL1	3996	broad.mit.edu	37	17	18144788	18144788	+	Silent	SNP	C	C	T	rs376243078		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:18144788C>T	ENST00000316843.4	+	18	2622	c.2526C>T	c.(2524-2526)agC>agT	p.S842S		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	842					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCAAGGTGAGCGCGAAGACCA	0.632																																						uc002gsp.2		NA																	0				breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2524-2526)AGC>AGT		lethal giant larvae homolog 1		C		0,4406		0,0,2203	53.0	42.0	46.0		2526	-4.9	0.9	17		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LLGL1	NM_004140.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		842/1065	18144788	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144788C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2526C>T	17.37:g.18144788C>T							p.S842S	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			18	2587	+	all_neural(463;0.228)		842			WD 12.		A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2526C>T	CCDS32586.1																																																																																				0.632	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			11	29	0	0	0	0	11	29				
SHMT1	6470	broad.mit.edu	37	17	18244076	18244076	+	Missense_Mutation	SNP	G	G	A	rs148701087	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:18244076G>A	ENST00000316694.3	-	6	705	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	SHMT1_ENST00000539052.1_Missense_Mutation_p.R53C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R191C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R191C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	191					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	TGGAAGAGGCGTGCGTTCTCC	0.557																																						uc002gta.2		NA																	0				ovary(1)	1						c.(571-573)CGC>TGC		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	164.0	116.0	132.0		571,571	4.7	1.0	17	dbSNP_134	132	8,8592	6.4+/-24.3	0,8,4292	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	180,180	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	probably-damaging,probably-damaging	191/484,191/445	18244076	11,12995	2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18244076G>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.571C>T	17.37:g.18244076G>A	ENSP00000318868:p.Arg191Cys					SHMT1_uc002gsz.2_Translation_Start_Site|SHMT1_uc002gtb.2_Missense_Mutation_p.R191C|SHMT1_uc010cqb.2_Missense_Mutation_p.R191C|SHMT1_uc010vxt.1_Missense_Mutation_p.R53C|SHMT1_uc002gtd.1_Missense_Mutation_p.R191C|SHMT1_uc010vxu.1_Missense_Mutation_p.R191C	p.R191C	NM_004169	NP_004160	P34896	GLYC_HUMAN			6	761	-			191					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.571C>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938710	0.52972	6.81E-4	9.3E-4	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.66	4.66	0.58398	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.092160	0.85682	D	0.000000	T	0.69251	0.3090	M	0.89968	3.075	0.80722	D	1	D;D;P;D	0.89917	1.0;0.961;0.89;0.991	D;P;P;P	0.66084	0.941;0.849;0.726;0.814	T	0.77051	-0.2731	10	0.56958	D	0.05	-24.7091	15.8551	0.78972	0.0:0.0:0.8593:0.1407	.	191;191;191;191	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	C	191;191;53;191;191	ENSP00000318868:R191C;ENSP00000345881:R191C;ENSP00000440089:R53C;ENSP00000318805:R191C	ENSP00000318868:R191C	R	-	1	0	SHMT1	18184801	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	7.609000	0.82925	1.454000	0.47793	0.655000	0.94253	CGC		0.557	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		5	12	0	0	0	0	5	12				
MED1	5469	broad.mit.edu	37	17	37576168	37576168	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:37576168G>C	ENST00000394287.3	-	14	1304	c.1099C>G	c.(1099-1101)Ctt>Gtt	p.L367V	MED1_ENST00000300651.6_Missense_Mutation_p.L367V			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACCAGGAAGAGCCTGGGCA	0.433										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(1099-1101)CTT>GTT		mediator complex subunit 1							63.0	61.0	62.0					17																	37576168		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37576168G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1099C>G	17.37:g.37576168G>C	ENSP00000377828:p.Leu367Val	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.L195V|MED1_uc002hru.2_Missense_Mutation_p.L367V	p.L367V	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	14	1311	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	367			Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.1099C>G		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275321	0.80580	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.57107	0.42	5.78	5.78	0.91487	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.74876	0.3774	M	0.79011	2.435	0.58432	D	0.999998	D;D	0.65815	0.995;0.976	D;P	0.71870	0.975;0.741	T	0.76716	-0.2857	9	0.87932	D	0	-8.6161	20.0154	0.97476	0.0:0.0:1.0:0.0	.	367;367	Q15648;Q15648-3	MED1_HUMAN;.	V	367	ENSP00000300651:L367V	ENSP00000300651:L367V	L	-	1	0	MED1	34829694	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.019000	0.70818	2.731000	0.93534	0.585000	0.79938	CTT		0.433	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		23	36	0	0	0	0	23	36				
SMARCE1	6605	broad.mit.edu	37	17	38785063	38785063	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:38785063T>C	ENST00000348513.6	-	11	1990	c.1210A>G	c.(1210-1212)Ata>Gta	p.I404V	SMARCE1_ENST00000578044.1_Missense_Mutation_p.I334V|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.I386V|SMARCE1_ENST00000544009.1_Missense_Mutation_p.I334V|SMARCE1_ENST00000400122.3_3'UTR|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.I369V	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	404	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TCTTCTGGTATGGGATCTGTT	0.418																																						uc002hux.2		NA																	0					0						c.(1210-1212)ATA>GTA		SWI/SNF-related matrix-associated							123.0	113.0	116.0					17																	38785063		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38785063T>C	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1210A>G	17.37:g.38785063T>C	ENSP00000323967:p.Ile404Val					SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Missense_Mutation_p.I369V|SMARCE1_uc010wfh.1_Missense_Mutation_p.I334V|SMARCE1_uc010wfi.1_Missense_Mutation_p.I386V	p.I404V	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			11	1334	-		Breast(137;0.000812)	404			Glu-rich.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.1210A>G	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	0.877	-0.729909	0.03135	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.15718	2.4;2.41	5.51	-0.675	0.11364	.	1.025430	0.07682	N	0.937245	T	0.06416	0.0165	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41520	-0.9504	10	0.23891	T	0.37	.	7.5399	0.27731	0.0:0.4356:0.1272:0.4372	.	369;404	C0IMW4;Q969G3	.;SMCE1_HUMAN	V	404;334;386	ENSP00000323967:I404V;ENSP00000445370:I386V	ENSP00000323967:I404V	I	-	1	0	SMARCE1	36038589	0.000000	0.05858	0.063000	0.19743	0.993000	0.82548	-1.207000	0.03008	-0.086000	0.12550	0.528000	0.53228	ATA		0.418	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		64	131	0	0	0	0	64	131				
FZD2	2535	broad.mit.edu	37	17	42635585	42635585	+	Missense_Mutation	SNP	G	G	A	rs530418343		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:42635585G>A	ENST00000315323.3	+	1	661	c.529G>A	c.(529-531)Ggg>Agg	p.G177R		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	177					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		gccgggtgccgggggcacccc	0.766																																						uc002igx.1		NA																	0				ovary(2)|lung(1)	3						c.(529-531)GGG>AGG		frizzled 2 precursor							4.0	5.0	5.0					17																	42635585		1331	2893	4224	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635585G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.529G>A	17.37:g.42635585G>A	ENSP00000323901:p.Gly177Arg						p.G177R	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	661	+		Prostate(33;0.0181)	177			Extracellular (Potential).		Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.529G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	1.043	-0.678170	0.03378	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73469	-0.75	3.98	3.98	0.46160	.	.	.	.	.	T	0.53932	0.1827	N	0.14661	0.345	0.25538	N	0.987201	B	0.29909	0.261	B	0.11329	0.006	T	0.35919	-0.9769	9	0.21540	T	0.41	.	11.5699	0.50829	0.0:0.0:1.0:0.0	.	177	Q14332	FZD2_HUMAN	R	253;177	ENSP00000323901:G177R	ENSP00000323901:G177R	G	+	1	0	FZD2	39991111	0.853000	0.29707	0.138000	0.22173	0.464000	0.32679	2.555000	0.45854	1.749000	0.51849	0.462000	0.41574	GGG		0.766	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		5	13	0	0	0	0	5	13				
KANSL1	284058	broad.mit.edu	37	17	44248386	44248386	+	Nonsense_Mutation	SNP	G	G	C	rs142696045	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:44248386G>C	ENST00000262419.6	-	2	1594	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S375*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	375					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTCTGAAATTGAATTGCTTTT	0.453																																						uc002ikb.2		NA																	0				skin(2)	2						c.(1123-1125)TCA>TGA		hypothetical protein LOC284058							86.0	111.0	103.0					17																	44248386		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44248386G>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1124C>G	17.37:g.44248386G>C	ENSP00000262419:p.Ser375*					KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S375*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S375*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S375*	p.S375*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	1209	-		Melanoma(429;0.211)	375					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.1124C>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991710	0.93106	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.84	5.84	0.93424	.	0.205916	0.42548	D	0.000691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-3.4835	18.7212	0.91694	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000262419:S375X	S	-	2	0	KIAA1267	41604163	1.000000	0.71417	0.416000	0.26546	0.644000	0.38419	7.405000	0.80007	2.769000	0.95229	0.561000	0.74099	TCA		0.453	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		23	121	0	0	0	0	23	121				
DGKE	8526	broad.mit.edu	37	17	54940147	54940147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:54940147G>T	ENST00000284061.3	+	12	1879	c.1699G>T	c.(1699-1701)Gaa>Taa	p.E567*		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	567					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AAAGGCGACTGAATAGATGGA	0.358																																						uc002iur.2		NA																	0				breast(2)	2						c.(1699-1701)GAA>TAA		diacylglycerol kinase epsilon							75.0	69.0	71.0					17																	54940147		2203	4300	6503	SO:0001587	stop_gained	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940147G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1699G>T	17.37:g.54940147G>T	ENSP00000284061:p.Glu567*					DGKE_uc002ius.1_3'UTR	p.E567*	NM_003647	NP_003638	P52429	DGKE_HUMAN			12	1879	+	Breast(9;3.59e-07)		567					Q8TBM4|Q9UKQ3	Nonsense_Mutation	SNP	ENST00000284061.3	37	c.1699G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855204	0.91355	.	.	ENSG00000153933	ENST00000284061	.	.	.	5.82	4.85	0.62838	.	0.526584	0.21447	N	0.074382	.	.	.	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.2458	0.65988	0.0:0.0:0.85:0.15	.	.	.	.	X	567	.	ENSP00000284061:E567X	E	+	1	0	DGKE	52295146	0.996000	0.38824	0.077000	0.20336	0.768000	0.43524	3.467000	0.53078	1.461000	0.47929	0.644000	0.83932	GAA		0.358	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		10	17	1	0	2.18e-05	3.04e-05	10	17				
ITGB4	3691	broad.mit.edu	37	17	73751885	73751885	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:73751885G>A	ENST00000200181.3	+	35	4849	c.4662G>A	c.(4660-4662)gaG>gaA	p.E1554E	ITGB4_ENST00000449880.2_Silent_p.E1537E|ITGB4_ENST00000450894.3_Silent_p.E1484E|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Silent_p.E1537E|ITGB4_ENST00000579662.1_Silent_p.E1484E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1554	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCGGTGCGAGCGGCCGCTGC	0.701																																						uc002jpg.2		NA																	0				lung(4)	4						c.(4660-4662)GAG>GAA		integrin beta 4 isoform 1 precursor							26.0	28.0	27.0					17																	73751885		2203	4299	6502	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73751885G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4662G>A	17.37:g.73751885G>A						ITGB4_uc002jph.2_Silent_p.E1484E|ITGB4_uc002jpi.3_Silent_p.E1484E|ITGB4_uc002jpj.2_Silent_p.E1537E|GALK1_uc010wsi.1_Intron	p.E1554E	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		35	4849	+	all_cancers(13;1.5e-07)		1554			Cytoplasmic (Potential).|Fibronectin type-III 3.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.4662G>A	CCDS11727.1																																																																																				0.701	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			11	25	0	0	0	0	11	25				
PQLC1	80148	broad.mit.edu	37	18	77710917	77710917	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr18:77710917C>G	ENST00000397778.2	-	2	192	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	PQLC1_ENST00000590381.1_Missense_Mutation_p.E4Q|PQLC1_ENST00000409073.1_5'Flank|PQLC1_ENST00000357575.4_Missense_Mutation_p.E4Q	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	4						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCCAGGCCCTCGGCCTCCATC	0.766																																						uc002lnl.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(10-12)GAG>CAG		PQ loop repeat containing 1 isoform 1							9.0	10.0	10.0					18																	77710917		2133	4225	6358	SO:0001583	missense	80148					integral to membrane		g.chr18:77710917C>G	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.10G>C	18.37:g.77710917C>G	ENSP00000380880:p.Glu4Gln					PQLC1_uc010dre.2_5'UTR|PQLC1_uc002lnk.2_Missense_Mutation_p.E4Q|PQLC1_uc010xfm.1_Missense_Mutation_p.E4Q	p.E4Q	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	2	182	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	4					B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.10G>C	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633966	0.29068	.	.	ENSG00000122490	ENST00000397778;ENST00000357575;ENST00000351365	.	.	.	4.27	2.41	0.29592	.	0.399331	0.26907	N	0.021895	T	0.46483	0.1395	L	0.47716	1.5	0.80722	D	1	B;B;B	0.18461	0.028;0.011;0.009	B;B;B	0.17722	0.006;0.003;0.019	T	0.25363	-1.0134	9	0.29301	T	0.29	-5.1319	9.2906	0.37784	0.0:0.7443:0.1687:0.087	.	4;4;4	B7Z7D9;Q8N2U9;G5E989	.;PQLC1_HUMAN;.	Q	4	.	ENSP00000315627:E4Q	E	-	1	0	PQLC1	75811905	0.957000	0.32711	0.019000	0.16419	0.317000	0.28152	2.313000	0.43735	0.253000	0.21552	0.491000	0.48974	GAG		0.766	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		3	6	0	0	0	0	3	6				
ZNRF4	148066	broad.mit.edu	37	19	5456154	5456154	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:5456154G>A	ENST00000222033.4	+	1	729	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	218	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGCGAGGCCGCCTCGCAGGA	0.672																																						uc002mca.3		NA																	0				large_intestine(2)	2						c.(652-654)GCC>ACC		zinc and ring finger 4 precursor							55.0	57.0	56.0					19																	5456154		2178	4265	6443	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456154G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.652G>A	19.37:g.5456154G>A	ENSP00000222033:p.Ala218Thr						p.A218T	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	729	+			218			Extracellular (Potential).|PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.652G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	2.842	-0.240301	0.05944	.	.	ENSG00000105428	ENST00000222033	T	0.06218	3.33	4.28	-2.02	0.07388	Protease-associated domain, PA (1);	0.147543	0.43579	U	0.000543	T	0.03095	0.0091	N	0.12920	0.275	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.44452	-0.9327	10	0.22109	T	0.4	.	9.1122	0.36734	0.4769:0.0:0.5231:0.0	.	218	Q8WWF5	ZNRF4_HUMAN	T	218	ENSP00000222033:A218T	ENSP00000222033:A218T	A	+	1	0	ZNRF4	5407154	0.112000	0.22096	0.004000	0.12327	0.169000	0.22640	0.986000	0.29590	-0.146000	0.11274	-0.424000	0.05967	GCC		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		34	74	0	0	0	0	34	74				
SMARCA4	6597	broad.mit.edu	37	19	11132522	11132522	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:11132522C>T	ENST00000429416.3	+	20	3019	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	kidney(2)|lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2737-2739)CCG>CTG		SWI/SNF-related matrix-associated							90.0	69.0	76.0					19																	11132522		2202	4300	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132522C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2738C>T	19.37:g.11132522C>T	ENSP00000395654:p.Pro913Leu					SMARCA4_uc010dxp.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P913L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P913L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P133L|SMARCA4_uc002mqh.3_Missense_Mutation_p.P36L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P116L	p.P913L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			19	3022	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	913			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2738C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550120	0.45383	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.51	3.48	0.39840	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99815	4.805	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;0.992;1.0;0.998;0.998	D	0.96538	0.9398	10	0.87932	D	0	-34.2807	11.4789	0.50314	0.0:0.9105:0.0:0.0895	.	913;913;913;913;913;133;913;913	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	913;913;977;913;913;913;913;913	ENSP00000395654:P913L;ENSP00000350720:P913L;ENSP00000343896:P913L;ENSP00000445036:P913L;ENSP00000392837:P913L;ENSP00000397783:P913L;ENSP00000414727:P913L	ENSP00000343896:P913L	P	+	2	0	SMARCA4	10993522	1.000000	0.71417	0.035000	0.18076	0.001000	0.01503	7.651000	0.83577	1.133000	0.42147	-0.136000	0.14681	CCG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		12	44	0	0	0	0	12	44				
NOTCH3	4854	broad.mit.edu	37	19	15290215	15290215	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:15290215G>A	ENST00000263388.2	-	21	3495	c.3420C>T	c.(3418-3420)ctC>ctT	p.L1140L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1140	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCGGGCCACGAGGTCAATGC	0.602																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(3418-3420)CTC>CTT		Notch homolog 3 precursor							96.0	86.0	89.0					19																	15290215		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15290215G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3420C>T	19.37:g.15290215G>A						NOTCH3_uc002nao.1_Silent_p.L1088L	p.L1140L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		21	3496	-			1140			Extracellular (Potential).|EGF-like 29; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3420C>T	CCDS12326.1																																																																																				0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	37	0	0	0	0	12	37				
CEACAM6	4680	broad.mit.edu	37	19	42260628	42260628	+	Missense_Mutation	SNP	G	G	A	rs145319104		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:42260628G>A	ENST00000199764.6	+	2	403	c.185G>A	c.(184-186)cGt>cAt	p.R62H	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	62	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGAATCGTATTGGTTAC	0.512																																						uc002orm.2		NA																	0				ovary(1)	1						c.(184-186)CGT>CAT		carcinoembryonic antigen-related cell adhesion		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	193.0	175.0	181.0		185	-3.5	0.0	19	dbSNP_134	181	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM6	NM_002483.4	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	62/345	42260628	2,13004	2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260628G>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.185G>A	19.37:g.42260628G>A	ENSP00000199764:p.Arg62His						p.R62H	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	334	+			62			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.185G>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837085	0.32513	2.27E-4	1.16E-4	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.55	-3.54	0.04653	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48409	0.1498	N	0.14661	0.345	0.09310	N	1	D	0.55385	0.971	P	0.53062	0.717	T	0.45205	-0.9277	9	0.72032	D	0.01	.	4.4325	0.11535	0.0:0.2951:0.1739:0.5309	.	62	P40199	CEAM6_HUMAN	H	62	ENSP00000199764:R62H	ENSP00000199764:R62H	R	+	2	0	CEACAM6	46952468	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.212000	0.01225	-0.932000	0.03742	-2.321000	0.00252	CGT		0.512	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			6	189	0	0	0	0	6	189				
RUVBL2	10856	broad.mit.edu	37	19	49507659	49507659	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:49507659G>C	ENST00000595090.1	+	4	713	c.249G>C	c.(247-249)aaG>aaC	p.K83N	RUVBL2_ENST00000601968.1_Missense_Mutation_p.K38N|RUVBL2_ENST00000413176.2_Missense_Mutation_p.K38N	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	83					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GCACGGGGAAGACGGCCATCG	0.622																																						uc002plr.1		NA																	0					0						c.(247-249)AAG>AAC		RuvB-like 2							46.0	51.0	49.0					19																	49507659		1943	4141	6084	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507659G>C	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.249G>C	19.37:g.49507659G>C	ENSP00000473172:p.Lys83Asn					RUVBL2_uc002plq.1_Missense_Mutation_p.K38N|RUVBL2_uc010yab.1_Missense_Mutation_p.K83N|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.K38N|RUVBL2_uc010yac.1_Missense_Mutation_p.K38N	p.K83N	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	262	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	83			ATP.		B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.249G>C	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250760	0.59212	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.76709	-1.04;-0.48	5.14	3.0	0.34707	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.098569	0.64402	D	0.000002	D	0.91603	0.7347	H	0.99312	4.51	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.99	D;D;D	0.79784	0.993;0.972;0.966	D	0.90197	0.4254	10	0.87932	D	0	-31.1308	7.3657	0.26772	0.2712:0.0:0.7288:0.0	.	83;83;49	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	N	83;38	ENSP00000221413:K83N;ENSP00000413890:K38N	ENSP00000221413:K83N	K	+	3	2	RUVBL2	54199471	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	1.689000	0.37700	0.689000	0.31550	0.561000	0.74099	AAG		0.622	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			14	60	0	0	0	0	14	60				
PRR12	57479	broad.mit.edu	37	19	50098966	50098966	+	Silent	SNP	G	G	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:50098966G>T	ENST00000418929.2	+	4	1386	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGCCTACGGGCAAGGGTTTG	0.711																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1372-1374)GGG>GGT		proline rich 12							15.0	17.0	17.0					19																	50098966		1734	3931	5665	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50098966G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1374G>T	19.37:g.50098966G>T							p.G458G	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1374	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	207			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.1374G>T	CCDS46143.1																																																																																				0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		7	20	1	0	0.00198382	0.00270109	7	20				
MYBPC2	4606	broad.mit.edu	37	19	50958903	50958903	+	Splice_Site	SNP	T	T	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:50958903T>C	ENST00000357701.5	+	20	2389		c.e20+2			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGAAGGCTGTGAGTGACCCT	0.602																																						uc002psf.2		NA																	0				breast(1)	1						c.e20+2		myosin binding protein C, fast type							57.0	65.0	62.0					19																	50958903		2083	4216	6299	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958903T>C		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2338+2T>C	19.37:g.50958903T>C							p.S780_splice	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	20	2389	+		all_neural(266;0.057)						A1L4G9	Splice_Site	SNP	ENST00000357701.5	37	c.2338_splice	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.033982	0.75504	.	.	ENSG00000086967	ENST00000357701	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6412	0.56711	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC2	55650715	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.888000	0.75622	1.704000	0.51252	0.373000	0.22412	.		0.602	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	Intron	31	46	0	0	0	0	31	46				
C2orf44	80304	broad.mit.edu	37	2	24261267	24261267	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261267G>C	ENST00000295148.4	-	2	1155	c.1098C>G	c.(1096-1098)atC>atG	p.I366M	C2orf44_ENST00000406895.3_Missense_Mutation_p.I366M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	366									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGAGTAGATCAAAATTA	0.393			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1096-1098)ATC>ATG		hypothetical protein LOC80304 isoform 1							57.0	61.0	60.0					2																	24261267		2202	4299	6501	SO:0001583	missense	80304						protein binding	g.chr2:24261267G>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1098C>G	2.37:g.24261267G>C	ENSP00000295148:p.Ile366Met					C2orf44_uc010eya.2_Missense_Mutation_p.I366M	p.I366M	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1229	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		366					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1098C>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339331	0.41398	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.54279	0.58;0.58	5.38	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);	0.106873	0.64402	D	0.000006	T	0.59169	0.2174	M	0.63428	1.95	0.31646	N	0.647433	D;D	0.57571	0.98;0.98	P;P	0.55260	0.772;0.772	T	0.66870	-0.5814	10	0.72032	D	0.01	-9.2394	8.4425	0.32822	0.1509:0.2197:0.6294:0.0	.	366;366	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	M	366	ENSP00000295148:I366M;ENSP00000385816:I366M	ENSP00000295148:I366M	I	-	3	3	C2orf44	24114771	0.986000	0.35501	1.000000	0.80357	0.437000	0.31866	0.199000	0.17237	1.415000	0.47037	0.655000	0.94253	ATC		0.393	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		20	65	0	0	0	0	20	65				
C2orf44	80304	broad.mit.edu	37	2	24261335	24261335	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261335G>A	ENST00000295148.4	-	2	1087	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	C2orf44_ENST00000406895.3_Silent_p.L344L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	344									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCTATCAGATCAGGAACC	0.413			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1030-1032)CTG>TTG		hypothetical protein LOC80304 isoform 1							58.0	56.0	57.0					2																	24261335		2203	4299	6502	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261335G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1030C>T	2.37:g.24261335G>A						C2orf44_uc010eya.2_Silent_p.L344L	p.L344L	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1161	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		344					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.1030C>T	CCDS1705.1																																																																																				0.413	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		16	44	0	0	0	0	16	44				
C2orf44	80304	broad.mit.edu	37	2	24261747	24261747	+	Silent	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261747G>C	ENST00000295148.4	-	2	675	c.618C>G	c.(616-618)gtC>gtG	p.V206V	C2orf44_ENST00000406895.3_Silent_p.V206V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	206									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGAGCAGACGTGGCTGT	0.488			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(616-618)GTC>GTG		hypothetical protein LOC80304 isoform 1							54.0	51.0	52.0					2																	24261747		2203	4300	6503	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261747G>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.618C>G	2.37:g.24261747G>C						C2orf44_uc010eya.2_Silent_p.V206V	p.V206V	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	749	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.618C>G	CCDS1705.1																																																																																				0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		15	47	0	0	0	0	15	47				
ALK	238	broad.mit.edu	37	2	29443686	29443686	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:29443686C>G	ENST00000389048.3	-	23	4437	c.3531G>C	c.(3529-3531)caG>caC	p.Q1177H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GAACAATGTTCTGGTGGTTGA	0.517			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3529-3531)CAG>CAC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						48.0	49.0	49.0					2																	29443686		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443686C>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3531G>C	2.37:g.29443686C>G	ENSP00000373700:p.Gln1177His					ALK_uc010ymo.1_Missense_Mutation_p.Q109H	p.Q1177H	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			23	4438	-	Acute lymphoblastic leukemia(172;0.155)		1177			Protein kinase.|Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3531G>C	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300492	0.60195	.	.	ENSG00000171094	ENST00000389048	D	0.89123	-2.47	5.61	4.72	0.59763	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000350	D	0.90000	0.6878	L	0.37561	1.115	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	D	0.88209	0.2889	9	.	.	.	.	14.288	0.66258	0.0:0.9286:0.0:0.0714	.	1177	Q9UM73	ALK_HUMAN	H	1177	ENSP00000373700:Q1177H	.	Q	-	3	2	ALK	29297190	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.217000	0.51184	2.799000	0.96334	0.650000	0.86243	CAG		0.517	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		13	28	0	0	0	0	13	28				
SMEK2	57223	broad.mit.edu	37	2	55812192	55812192	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:55812192C>T	ENST00000345102.5	-	7	1529	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	SMEK2_ENST00000407823.3_Missense_Mutation_p.D410N|SMEK2_ENST00000272313.5_Missense_Mutation_p.D410N	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	410					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.D410N(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTACGTCATCACTCTGCTGA	0.348																																						uc002rzc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1228-1230)GAT>AAT		SMEK homolog 2, suppressor of mek1 isoform 1							114.0	112.0	113.0					2																	55812192		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55812192C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1228G>A	2.37:g.55812192C>T	ENSP00000339769:p.Asp410Asn					SMEK2_uc002rzb.2_Missense_Mutation_p.D410N|SMEK2_uc002rzd.2_Missense_Mutation_p.D410N|SMEK2_uc002rza.2_Missense_Mutation_p.D286N	p.D410N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		7	1603	-			410					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1228G>A	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418352	0.83559	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.61392	0.11;0.11;0.11	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	L	0.32530	0.975	0.80722	D	1	D;D;D;B	0.76494	0.964;0.999;0.999;0.188	P;D;D;B	0.72982	0.839;0.979;0.979;0.109	T	0.65307	-0.6200	10	0.39692	T	0.17	-16.8847	20.0425	0.97596	0.0:1.0:0.0:0.0	.	410;410;410;410	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	N	410	ENSP00000272313:D410N;ENSP00000385912:D410N;ENSP00000339769:D410N	ENSP00000272313:D410N	D	-	1	0	SMEK2	55665696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.745000	0.94114	0.650000	0.86243	GAT		0.348	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		15	48	0	0	0	0	15	48				
TMEM131	23505	broad.mit.edu	37	2	98408979	98408979	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:98408979C>T	ENST00000186436.5	-	31	4242	c.4014G>A	c.(4012-4014)gcG>gcA	p.A1338A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1338						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACTGTGCCTCGCGCTGCTGG	0.622																																						uc002syh.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(4012-4014)GCG>GCA		RW1 protein							43.0	45.0	44.0					2																	98408979		2056	4211	6267	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98408979C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4014G>A	2.37:g.98408979C>T							p.A1338A	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	4243	-			1338						Silent	SNP	ENST00000186436.5	37	c.4014G>A	CCDS46368.1																																																																																				0.622	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	22	0	0	0	0	5	22				
COL5A2	1290	broad.mit.edu	37	2	189953461	189953461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:189953461G>C	ENST00000374866.3	-	8	879	c.605C>G	c.(604-606)tCt>tGt	p.S202C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	202					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCAAGTCCAGATTTTTCATC	0.353																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(604-606)TCT>TGT		alpha 2 type V collagen preproprotein							115.0	113.0	113.0					2																	189953461		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189953461G>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.605C>G	2.37:g.189953461G>C	ENSP00000364000:p.Ser202Cys					COL5A2_uc010frx.2_5'Flank	p.S202C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		8	880	-			202					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.605C>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162604	0.78226	.	.	ENSG00000204262	ENST00000374866	D	0.94576	-3.46	6.07	6.07	0.98685	.	0.121979	0.37530	N	0.002052	D	0.96210	0.8764	M	0.62723	1.935	0.47905	D	0.999544	D	0.61080	0.989	P	0.61328	0.887	D	0.95258	0.8366	9	.	.	.	.	17.5761	0.87949	0.0:0.0:1.0:0.0	.	202	P05997	CO5A2_HUMAN	C	202	ENSP00000364000:S202C	.	S	-	2	0	COL5A2	189661706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.399000	0.59703	2.885000	0.99019	0.655000	0.94253	TCT		0.353	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		18	49	0	0	0	0	18	49				
SP140	11262	broad.mit.edu	37	2	231112687	231112687	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:231112687G>A	ENST00000392045.3	+	8	913	c.799G>A	c.(799-801)Gag>Aag	p.E267K	SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.E241K|SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E267K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	267					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGCACCAGGGGAGAAACAGGG	0.473																																						uc002vql.2		NA																	0					0						c.(799-801)GAG>AAG		SP140 nuclear body protein isoform 1							154.0	157.0	156.0					2																	231112687		1984	4161	6145	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231112687G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.799G>A	2.37:g.231112687G>A	ENSP00000375899:p.Glu267Lys					SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E267K|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Missense_Mutation_p.E241K|SP140_uc010fxl.2_Missense_Mutation_p.E267K	p.E267K	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	914	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	267					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.799G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.657354	0.00779	.	.	ENSG00000079263	ENST00000392044;ENST00000392045;ENST00000343805;ENST00000420434	T;T;T	0.58060	0.91;0.36;0.89	1.83	-0.817	0.10836	.	.	.	.	.	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21518	-1.0243	9	0.06099	T	0.92	.	1.7326	0.02935	0.5341:0.0:0.1837:0.2822	.	267;241;267;267	E7EUR5;E9PFJ6;Q13342;E7EX75	.;.;LY10_HUMAN;.	K	267;267;241;267	ENSP00000375899:E267K;ENSP00000342096:E241K;ENSP00000398210:E267K	ENSP00000342096:E241K	E	+	1	0	SP140	230820931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.126000	0.15769	-0.209000	0.10156	-0.994000	0.02522	GAG		0.473	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		46	38	0	0	0	0	46	38				
GGTLC1	92086	broad.mit.edu	37	20	23966391	23966391	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:23966391G>A	ENST00000335694.4	-	5	648	c.444C>T	c.(442-444)ggC>ggT	p.G148G	GGTLC1_ENST00000278765.4_Silent_p.G148G|GGTLC1_ENST00000286890.4_Silent_p.G148G	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TCACGTCATAGCCGAACCAGA	0.612																																						uc002wts.2		NA																	0				ovary(1)	1						c.(442-444)GGC>GGT		gamma-glutamyltransferase light chain 1							81.0	84.0	83.0					20																	23966391		2203	4296	6499	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23966391G>A	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.444C>T	20.37:g.23966391G>A						GGTLC1_uc002wtu.2_Silent_p.G148G	p.G148G	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			5	577	-			148					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.444C>T	CCDS13163.1																																																																																				0.612	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		38	142	0	0	0	0	38	142				
GGTLC1	92086	broad.mit.edu	37	20	23967230	23967230	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:23967230A>C	ENST00000335694.4	-	2	223	c.19T>G	c.(19-21)Tct>Gct	p.S7A	GGTLC1_ENST00000278765.4_Missense_Mutation_p.S7A|GGTLC1_ENST00000286890.4_Missense_Mutation_p.S7A	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	7					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						AGCTGGGCAGAGAAGAACTCG	0.642																																						uc002wts.2		NA																	0				ovary(1)	1						c.(19-21)TCT>GCT		gamma-glutamyltransferase light chain 1							70.0	70.0	70.0					20																	23967230		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967230A>C	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.19T>G	20.37:g.23967230A>C	ENSP00000337587:p.Ser7Ala					GGTLC1_uc002wtu.2_Missense_Mutation_p.S7A	p.S7A	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	152	-			7					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.19T>G	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0.010	-1.754729	0.00663	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.04317	3.65;3.65;3.65	0.844	-1.69	0.08186	.	0.992403	0.08180	N	0.985627	T	0.00724	0.0024	N	0.00020	-2.76	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.39840	-0.9594	10	0.02654	T	1	-22.2143	6.4604	0.21954	0.2825:0.7175:0.0:0.0	.	7	Q9BX51	GGTL1_HUMAN	A	7	ENSP00000286890:S7A;ENSP00000278765:S7A;ENSP00000337587:S7A	ENSP00000278765:S7A	S	-	1	0	GGTLC1	23915230	1.000000	0.71417	0.015000	0.15790	0.015000	0.08874	3.399000	0.52586	-2.039000	0.00917	-2.073000	0.00383	TCT		0.642	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		3	83	0	0	0	0	3	83				
RBL1	5933	broad.mit.edu	37	20	35695460	35695460	+	Silent	SNP	A	A	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:35695460A>G	ENST00000373664.3	-	5	687	c.621T>C	c.(619-621)gaT>gaC	p.D207D	RBL1_ENST00000344359.3_Silent_p.D207D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	207					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAAAAATCAGATCCAAGCAGC	0.303																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(619-621)GAT>GAC		retinoblastoma-like protein 1 isoform a							92.0	102.0	99.0					20																	35695460		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35695460A>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.621T>C	20.37:g.35695460A>G						RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.D207D|RBL1_uc010gfv.1_RNA	p.D207D	NM_002895	NP_002886	P28749	RBL1_HUMAN			5	700	-		Myeloproliferative disorder(115;0.00878)	207					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.621T>C	CCDS13289.1																																																																																				0.303	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		25	68	0	0	0	0	25	68				
SEMG1	6406	broad.mit.edu	37	20	43837187	43837187	+	Missense_Mutation	SNP	C	C	A	rs145325570	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:43837187C>A	ENST00000372781.3	+	2	1306	c.1249C>A	c.(1249-1251)Cta>Ata	p.L417I	SEMG1_ENST00000244069.6_Missense_Mutation_p.L357I	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	417	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGAACAAGACCTACTCAGTCA	0.438																																						uc002xni.2		NA																	0				skin(2)	2						c.(1249-1251)CTA>ATA		semenogelin I preproprotein							100.0	87.0	92.0					20																	43837187		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837187C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1249C>A	20.37:g.43837187C>A	ENSP00000361867:p.Leu417Ile					SEMG1_uc002xnj.2_Missense_Mutation_p.L357I|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.L357I	p.L417I	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	1306	+		Myeloproliferative disorder(115;0.0122)	417			42 AA repeat 3.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1249C>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	4.786	0.146095	0.09134	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.14022	2.54;2.54	1.17	0.183	0.15082	.	.	.	.	.	T	0.25531	0.0621	M	0.77820	2.39	0.09310	N	1	B;D;B	0.56521	0.256;0.976;0.106	B;P;B	0.57057	0.132;0.812;0.075	T	0.10337	-1.0634	9	0.56958	D	0.05	.	3.4566	0.07518	0.0:0.7196:0.0:0.2804	.	357;417;357	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	I	357;417	ENSP00000244069:L357I;ENSP00000361867:L417I	ENSP00000244069:L357I	L	+	1	2	SEMG1	43270601	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.219000	0.17641	0.067000	0.16545	-0.259000	0.10710	CTA		0.438	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		21	48	1	0	4.97e-08	7.04e-08	21	48				
DSCAM	1826	broad.mit.edu	37	21	41710050	41710050	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr21:41710050C>G	ENST00000400454.1	-	8	2238	c.1761G>C	c.(1759-1761)caG>caC	p.Q587H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	587	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTGGACGCTCTGGCTGGTGG	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1759-1761)CAG>CAC		Down syndrome cell adhesion molecule isoform							146.0	148.0	147.0					21																	41710050		2088	4211	6299	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710050C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1761G>C	21.37:g.41710050C>G	ENSP00000383303:p.Gln587His					DSCAM_uc002yyr.1_RNA	p.Q587H	NM_001389	NP_001380	O60469	DSCAM_HUMAN			8	2213	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	587			Extracellular (Potential).|Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1761G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192411	0.78902	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67171	-0.25;-0.25	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	L	0.41356	1.27	0.51767	D	0.999939	P	0.49696	0.927	P	0.52267	0.694	T	0.65092	-0.6252	10	0.27785	T	0.31	.	19.2329	0.93847	0.0:1.0:0.0:0.0	.	587	O60469	DSCAM_HUMAN	H	587;339	ENSP00000383303:Q587H;ENSP00000385342:Q339H	ENSP00000383303:Q587H	Q	-	3	2	DSCAM	40631920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.612000	0.67681	2.617000	0.88574	0.655000	0.94253	CAG		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	102	0	0	0	0	12	102				
LZTR1	8216	broad.mit.edu	37	22	21348988	21348988	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr22:21348988C>T	ENST00000215739.8	+	15	2116	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.A567V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	586					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCGAGAGTGCCGCCCGGCTG	0.657																																						uc002zto.2		NA																	0				ovary(2)|lung(2)	4						c.(1756-1758)GCC>GTC		leucine-zipper-like transcription regulator 1																																				SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21348988C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1757C>T	22.37:g.21348988C>T	ENSP00000215739:p.Ala586Val					LZTR1_uc002ztn.2_Missense_Mutation_p.A545V|LZTR1_uc011ahy.1_Missense_Mutation_p.A567V|LZTR1_uc002ztp.2_5'Flank	p.A586V	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1860	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	586					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1757C>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.735351	0.89482	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.87650	-2.28;-2.28	4.72	4.72	0.59763	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	L	0.47716	1.5	0.80722	D	1	D;P;D	0.71674	0.988;0.787;0.998	P;B;D	0.80764	0.815;0.32;0.994	D	0.90906	0.4772	10	0.52906	T	0.07	-20.9608	15.2289	0.73372	0.0:1.0:0.0:0.0	.	567;586;545	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	V	545;586;567	ENSP00000215739:A586V;ENSP00000374006:A567V	ENSP00000215739:A586V	A	+	2	0	LZTR1	19678988	1.000000	0.71417	0.940000	0.37924	0.751000	0.42716	5.877000	0.69675	2.444000	0.82710	0.457000	0.33378	GCC		0.657	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		3	31	0	0	0	0	3	31				
PRRT3	285368	broad.mit.edu	37	3	9989488	9989488	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:9989488G>A	ENST00000412055.1	-	4	1498	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	457	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CAGCGTAGCGGGGGTGCAGTG	0.716																																						uc003bul.2		NA																	0					0						c.(1369-1371)CCG>TCG		proline-rich transmembrane protein 3 precursor							3.0	5.0	4.0					3																	9989488		1817	3829	5646	SO:0001583	missense	285368					integral to membrane		g.chr3:9989488G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1369C>T	3.37:g.9989488G>A	ENSP00000392511:p.Pro457Ser					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	p.P457S	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			4	1499	-			457			Extracellular (Potential).|Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1369C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588785	0.46110	.	.	ENSG00000163704	ENST00000412055	T	0.14640	2.49	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000121	T	0.16385	0.0394	N	0.08118	0	0.58432	D	0.999999	D	0.71674	0.998	P	0.62649	0.905	T	0.26538	-1.0100	9	.	.	.	-21.531	15.76	0.78073	0.0:0.0:1.0:0.0	.	457	Q5FWE3	PRRT3_HUMAN	S	457	ENSP00000392511:P457S	.	P	-	1	0	PRRT3	9964488	0.559000	0.26562	0.749000	0.31150	0.549000	0.35272	2.964000	0.49192	2.564000	0.86499	0.563000	0.77884	CCG		0.716	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		3	5	0	0	0	0	3	5				
ZNF621	285268	broad.mit.edu	37	3	40570902	40570902	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:40570902G>A	ENST00000339296.5	+	3	569	c.117G>A	c.(115-117)gtG>gtA	p.V39V	ZNF621_ENST00000310898.1_Silent_p.V39V|ZNF621_ENST00000403205.2_Silent_p.V39V|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		ACGGGGAGGTGATGCTGGAGA	0.517																																						uc003ckm.2		NA																	0				ovary(1)	1						c.(115-117)GTG>GTA		zinc finger protein 621							181.0	174.0	176.0					3																	40570902		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40570902G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.117G>A	3.37:g.40570902G>A						ZNF621_uc003ckn.2_Silent_p.V39V|ZNF621_uc003cko.2_Intron|ZNF621_uc011aze.1_Intron	p.V39V	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	3	333	+			39			KRAB.		Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.117G>A	CCDS2693.1																																																																																				0.517	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		57	85	0	0	0	0	57	85				
CLDND1	56650	broad.mit.edu	37	3	98240146	98240146	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:98240146T>G	ENST00000503004.1	-	2	1002	c.123A>C	c.(121-123)gaA>gaC	p.E41D	CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.E41D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E41D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E41D|CLDND1_ENST00000510545.1_Missense_Mutation_p.E41D|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000437922.1_Missense_Mutation_p.E64D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E41D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E41D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000507874.1_Missense_Mutation_p.E41D			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	41						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CACTGGAATTTTCTTGAACTG	0.393																																						uc003dsp.2		NA																	0				ovary(1)	1						c.(121-123)GAA>GAC		claudin domain containing 1 protein isoform a							89.0	85.0	86.0					3																	98240146		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240146T>G	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.123A>C	3.37:g.98240146T>G	ENSP00000421226:p.Glu41Asp					CLDND1_uc003dso.2_Missense_Mutation_p.E41D|CLDND1_uc003dsq.2_Missense_Mutation_p.E41D|CLDND1_uc003dss.2_Missense_Mutation_p.E41D|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.E64D|CLDND1_uc003dsu.2_Missense_Mutation_p.E41D|CLDND1_uc003dsv.2_Missense_Mutation_p.E41D	p.E41D	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN			2	1003	-			41					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.123A>C	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961761	0.53400	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.25	0.411	0.16392	.	0.368896	0.29424	N	0.012187	T	0.63450	0.2512	L	0.47716	1.5	0.80722	D	1	D;D;P	0.59767	0.986;0.972;0.764	P;P;B	0.58928	0.848;0.749;0.304	T	0.59726	-0.7400	10	0.15499	T	0.54	-15.5785	4.7723	0.13162	0.0:0.3518:0.1687:0.4795	.	41;41;41	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	D	41;41;64;41;41;41;41;41;41;19;41;41;41;41;41;41;41;19;41;41;41	ENSP00000422428:E41D;ENSP00000340247:E41D;ENSP00000388457:E64D;ENSP00000377734:E41D;ENSP00000421226:E41D;ENSP00000377739:E41D;ENSP00000377735:E41D;ENSP00000423590:E41D;ENSP00000426869:E41D;ENSP00000423732:E19D;ENSP00000425539:E41D;ENSP00000420913:E41D;ENSP00000421413:E41D;ENSP00000423151:E41D;ENSP00000423093:E41D;ENSP00000425204:E41D;ENSP00000427658:E41D	ENSP00000340247:E41D	E	-	3	2	CLDND1	99722836	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.575000	0.23729	0.047000	0.15862	0.533000	0.62120	GAA		0.393	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		15	46	0	0	0	0	15	46				
ARGFX	503582	broad.mit.edu	37	3	121303817	121303817	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:121303817G>C	ENST00000334384.3	+	3	284	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ACAGTATGAGGAGCTAGAAGC	0.443																																						uc003eef.2		NA																	0				skin(2)|ovary(1)	3						c.(274-276)GAG>CAG		arginine-fifty homeobox							168.0	158.0	161.0					3																	121303817		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121303817G>C		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.274G>C	3.37:g.121303817G>C	ENSP00000335578:p.Glu92Gln						p.E92Q	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	4	369	+			92			Homeobox.			Missense_Mutation	SNP	ENST00000334384.3	37	c.274G>C	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603489	0.46423	.	.	ENSG00000186103	ENST00000334384	D	0.96619	-4.07	2.92	2.92	0.33932	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.352168	0.20693	N	0.087434	D	0.95733	0.8612	L	0.41573	1.285	0.21822	N	0.999529	D	0.63046	0.992	P	0.62014	0.897	D	0.89367	0.3672	10	0.54805	T	0.06	-3.7252	9.53	0.39187	0.0:0.0:1.0:0.0	.	92	A6NJG6	ARGFX_HUMAN	Q	92	ENSP00000335578:E92Q	ENSP00000335578:E92Q	E	+	1	0	ARGFX	122786507	0.879000	0.30193	0.673000	0.29887	0.004000	0.04260	1.540000	0.36115	1.955000	0.56771	0.555000	0.69702	GAG		0.443	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		30	116	0	0	0	0	30	116				
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	rs368321325		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(3901-3903)CGC>TGC		myosin light chain kinase isoform 1		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	131.0	133.0		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys					MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R101C|MYLK_uc011bjw.1_Missense_Mutation_p.R1301C|MYLK_uc003egp.2_Missense_Mutation_p.R1232C|MYLK_uc003egq.2_Missense_Mutation_p.R1301C|MYLK_uc003egr.2_Missense_Mutation_p.R1232C|MYLK_uc003egs.2_Missense_Mutation_p.R1125C	p.R1301C	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4183	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		51	171	0	0	0	0	51	171				
MECOM	2122	broad.mit.edu	37	3	168834351	168834351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:168834351C>A	ENST00000464456.1	-	7	1945	c.745G>T	c.(745-747)Gga>Tga	p.G249*	MECOM_ENST00000460814.1_Nonsense_Mutation_p.G249*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.G249*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.G314*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.G437*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.G249*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.G250*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.G250*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCAAAAAATCCACCTGCCGCA	0.453																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(745-747)GGA>TGA		MDS1 and EVI1 complex locus isoform b							368.0	316.0	334.0					3																	168834351		2203	4300	6503	SO:0001587	stop_gained	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168834351C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.745G>T	3.37:g.168834351C>A	ENSP00000419770:p.Gly249*					MECOM_uc010hwk.1_Nonsense_Mutation_p.G272*|MECOM_uc003ffj.3_Nonsense_Mutation_p.G314*|MECOM_uc011bpi.1_Nonsense_Mutation_p.G250*|MECOM_uc003ffn.3_Nonsense_Mutation_p.G249*|MECOM_uc003ffk.2_Nonsense_Mutation_p.G249*|MECOM_uc003ffl.2_Nonsense_Mutation_p.G409*|MECOM_uc011bpj.1_Nonsense_Mutation_p.G437*|MECOM_uc011bpk.1_Nonsense_Mutation_p.G239*|MECOM_uc010hwn.2_Nonsense_Mutation_p.G437*	p.G249*	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1014	-			249			Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000464456.1	37	c.745G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	37	6.486582	0.97607	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	.	.	.	5.88	5.88	0.94601	.	0.175001	0.40640	N	0.001053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-12.4102	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	314;249;249;250;437;249;249;250	.	ENSP00000264674:G314X	G	-	1	0	MECOM	170317045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	GGA		0.453	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		18	59	1	0	1.26e-06	1.78e-06	18	59				
MYNN	55892	broad.mit.edu	37	3	169496734	169496734	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:169496734G>C	ENST00000349841.5	+	3	1108	c.445G>C	c.(445-447)Gat>Cat	p.D149H	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.D149H|MYNN_ENST00000356716.4_Missense_Mutation_p.D149H|MYNN_ENST00000392733.1_Missense_Mutation_p.D149H	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTCTGCGAGATTATAATAA	0.343																																						uc003fft.2		NA																	0				skin(1)	1						c.(445-447)GAT>CAT		myoneurin							43.0	47.0	45.0					3																	169496734		2202	4300	6502	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496734G>C	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.445G>C	3.37:g.169496734G>C	ENSP00000326240:p.Asp149His					MYNN_uc011bpm.1_Missense_Mutation_p.D35H|MYNN_uc003ffu.2_Missense_Mutation_p.D149H|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.D149H|MYNN_uc003ffw.1_RNA	p.D149H	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	874	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		149					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.445G>C	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498956	0.64298	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09817	3.12;3.12;2.94;2.94	5.35	5.35	0.76521	.	0.070349	0.64402	D	0.000016	T	0.22282	0.0537	N	0.24115	0.695	0.39216	D	0.963413	D;D	0.89917	1.0;0.999	D;D	0.77557	0.977;0.99	T	0.04693	-1.0933	10	0.46703	T	0.11	.	19.0559	0.93064	0.0:0.0:1.0:0.0	.	149;149	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	H	149	ENSP00000349150:D149H;ENSP00000326240:D149H;ENSP00000376492:D149H;ENSP00000440637:D149H	ENSP00000326240:D149H	D	+	1	0	MYNN	170979428	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.778000	0.75043	2.510000	0.84645	0.650000	0.86243	GAT		0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		21	36	0	0	0	0	21	36				
SRD5A3	79644	broad.mit.edu	37	4	56230347	56230347	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr4:56230347G>C	ENST00000264228.4	+	3	699	c.471G>C	c.(469-471)atG>atC	p.M157I	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	157					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CCAATGTCATGATTCACGTCG	0.483																																						uc003hau.2		NA																	0					0						c.(469-471)ATG>ATC		steroid 5 alpha-reductase 3							316.0	244.0	268.0					4																	56230347		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56230347G>C	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.471G>C	4.37:g.56230347G>C	ENSP00000264228:p.Met157Ile					uc003hav.1_RNA	p.M157I	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		3	566	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		157			Lumenal (Potential).		Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.471G>C	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311566	0.23821	.	.	ENSG00000128039	ENST00000264228	T	0.35605	1.3	5.48	3.7	0.42460	.	0.577098	0.18781	N	0.131323	T	0.22437	0.0541	N	0.08118	0	0.23391	N	0.997775	B	0.02656	0.0	B	0.04013	0.001	T	0.11470	-1.0586	10	0.35671	T	0.21	-1.4413	16.7997	0.85611	0.0:0.63:0.37:0.0	.	157	Q9H8P0	PORED_HUMAN	I	157	ENSP00000264228:M157I	ENSP00000264228:M157I	M	+	3	0	SRD5A3	55925104	0.556000	0.26538	0.067000	0.19924	0.556000	0.35491	0.540000	0.23191	0.627000	0.30340	0.561000	0.74099	ATG		0.483	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		16	72	0	0	0	0	16	72				
MAP1B	4131	broad.mit.edu	37	5	71491499	71491499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:71491499G>A	ENST00000296755.7	+	5	2615	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	773	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCTGTTGCTGCCGGAAAGCC	0.473																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2317-2319)GCC>ACC		microtubule-associated protein 1B							75.0	81.0	79.0					5																	71491499		2202	4300	6502	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491499G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2317G>A	5.37:g.71491499G>A	ENSP00000296755:p.Ala773Thr					MAP1B_uc010iyw.1_Missense_Mutation_p.A790T|MAP1B_uc010iyx.1_Missense_Mutation_p.A647T|MAP1B_uc010iyy.1_Missense_Mutation_p.A647T	p.A773T	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2558	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	773			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2317G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.543619	0.00934	.	.	ENSG00000131711	ENST00000296755	T	0.19250	2.16	5.63	0.613	0.17597	.	0.386006	0.24618	N	0.036992	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.08055	0.003;0.003	T	0.35325	-0.9793	10	0.12766	T	0.61	-6.3736	8.15	0.31134	0.1906:0.4194:0.3901:0.0	.	647;773	A2BDK6;P46821	.;MAP1B_HUMAN	T	773	ENSP00000296755:A773T	ENSP00000296755:A773T	A	+	1	0	MAP1B	71527255	0.573000	0.26676	0.218000	0.23776	0.025000	0.11179	1.444000	0.35068	0.064000	0.16427	-1.956000	0.00482	GCC		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		37	124	0	0	0	0	37	124				
VCAN	1462	broad.mit.edu	37	5	82808041	82808041	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:82808041G>A	ENST00000265077.3	+	6	1433	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	VCAN_ENST00000513984.1_Missense_Mutation_p.G290S|VCAN_ENST00000342785.4_Missense_Mutation_p.G290S|VCAN_ENST00000512590.2_Missense_Mutation_p.G242S|VCAN_ENST00000502527.2_Missense_Mutation_p.G290S|VCAN_ENST00000343200.5_Missense_Mutation_p.G290S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	290	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.G290S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGGAGGAACGGCTTTGACCA	0.602																																						uc003kii.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(868-870)GGC>AGC		versican isoform 1 precursor							82.0	71.0	75.0					5																	82808041		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808041G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.868G>A	5.37:g.82808041G>A	ENSP00000265077:p.Gly290Ser					VCAN_uc003kij.3_Missense_Mutation_p.G290S|VCAN_uc010jau.2_Missense_Mutation_p.G290S|VCAN_uc003kik.3_Missense_Mutation_p.G290S|VCAN_uc003kih.3_Missense_Mutation_p.G290S	p.G290S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1224	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	290			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.868G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182343	0.57800	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.49	3.67	0.42095	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.236140	0.29775	N	0.011230	T	0.60274	0.2256	M	0.86268	2.805	0.48288	D	0.999625	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.993;0.957;1.0;0.996	T	0.68096	-0.5499	10	0.87932	D	0	.	15.9056	0.79427	0.0:0.2564:0.7436:0.0	.	290;290;290;290;290	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	290;290;290;242;290;290;290	ENSP00000265077:G290S;ENSP00000340062:G290S;ENSP00000342768:G290S;ENSP00000425959:G242S;ENSP00000426251:G290S;ENSP00000426715:G290S;ENSP00000421362:G290S	ENSP00000265077:G290S	G	+	1	0	VCAN	82843797	1.000000	0.71417	0.149000	0.22428	0.001000	0.01503	9.808000	0.99193	0.647000	0.30713	-0.300000	0.09419	GGC		0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		15	26	0	0	0	0	15	26				
SEC24A	10802	broad.mit.edu	37	5	134007526	134007526	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:134007526C>G	ENST00000398844.2	+	4	1055	c.767C>G	c.(766-768)tCt>tGt	p.S256C	SEC24A_ENST00000322887.4_Missense_Mutation_p.S256C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	256					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.S256F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAACGGATCTATGGTGGTC	0.308																																						uc003kzs.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(766-768)TCT>TGT		SEC24 related gene family, member A							115.0	105.0	109.0					5																	134007526		1841	4091	5932	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134007526C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.767C>G	5.37:g.134007526C>G	ENSP00000381823:p.Ser256Cys					SEC24A_uc011cxu.1_Missense_Mutation_p.L24V	p.S256C	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	1055	+			256					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.767C>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941995	0.73557	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.50548	1.04;0.74	5.28	5.28	0.74379	.	0.881402	0.10204	N	0.702902	T	0.50497	0.1619	L	0.50333	1.59	0.39937	D	0.974368	P	0.42375	0.778	B	0.41946	0.371	T	0.53415	-0.8442	10	0.51188	T	0.08	-7.7186	17.0754	0.86585	0.0:1.0:0.0:0.0	.	256	O95486	SC24A_HUMAN	C	256	ENSP00000381823:S256C;ENSP00000321749:S256C	ENSP00000321749:S256C	S	+	2	0	SEC24A	134035425	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.248000	0.51430	2.464000	0.83262	0.591000	0.81541	TCT		0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			12	27	0	0	0	0	12	27				
PCDHA5	56143	broad.mit.edu	37	5	140203521	140203521	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:140203521C>T	ENST00000529859.1	+	1	2161	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R721W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R721W|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	721					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGCGCTGCGGTGCTCGGC	0.667																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2161-2163)CGG>TGG		protocadherin alpha 5 isoform 1 precursor							54.0	51.0	52.0					5																	140203521		2203	4299	6502	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203521C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2161C>T	5.37:g.140203521C>T	ENSP00000436557:p.Arg721Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R721W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R721W	p.R721W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2161	+			721			Cytoplasmic (Potential).		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2161C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113868	0.56398	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.18016	2.24;2.24;2.24	4.17	4.17	0.49024	.	.	.	.	.	T	0.34803	0.0910	M	0.93150	3.385	0.31136	N	0.707201	P;P;P	0.49358	0.875;0.923;0.923	B;B;B	0.43680	0.236;0.427;0.427	T	0.57911	-0.7729	9	0.72032	D	0.01	.	12.4719	0.55792	0.1682:0.8318:0.0:0.0	.	721;721;721	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	721	ENSP00000433416:R721W;ENSP00000436557:R721W;ENSP00000367366:R721W	ENSP00000367366:R721W	R	+	1	2	PCDHA5	140183705	0.032000	0.19561	0.997000	0.53966	0.370000	0.29829	0.353000	0.20130	2.046000	0.60703	0.491000	0.48974	CGG		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		33	69	0	0	0	0	33	69				
PCDHGA4	56111	broad.mit.edu	37	5	140735144	140735144	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:140735144T>C	ENST00000571252.1	+	1	377	c.377T>C	c.(376-378)gTt>gCt	p.V126A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATCGATGTTAATGATAAC	0.423																																						uc003ljq.1		NA																	0					0						c.(376-378)GTT>GCT		protocadherin gamma subfamily A, 4 isoform 1							65.0	67.0	66.0					5																	140735144		1901	4136	6037	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735144T>C	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.377T>C	5.37:g.140735144T>C	ENSP00000458570:p.Val126Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V126A	p.V126A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	377	+			126			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.377T>C	CCDS58979.1																																																																																				0.423	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		19	36	0	0	0	0	19	36				
TCOF1	6949	broad.mit.edu	37	5	149754239	149754239	+	Silent	SNP	C	C	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:149754239C>A	ENST00000504761.2	+	9	1143	c.1143C>A	c.(1141-1143)tcC>tcA	p.S381S	TCOF1_ENST00000377797.3_Silent_p.S381S|TCOF1_ENST00000394269.3_Silent_p.S381S|TCOF1_ENST00000451292.1_Silent_p.S381S|TCOF1_ENST00000445265.2_Silent_p.S304S|TCOF1_ENST00000439160.2_Silent_p.S381S|TCOF1_ENST00000513346.1_Silent_p.S381S|TCOF1_ENST00000323668.7_Silent_p.S304S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	381					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGAGTCCCCCAGGAAAG	0.657																																						uc003lry.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1141-1143)TCC>TCA		Treacher Collins-Franceschetti syndrome 1							41.0	50.0	47.0					5																	149754239		2202	4298	6500	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149754239C>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1143C>A	5.37:g.149754239C>A						TCOF1_uc003lrw.2_Silent_p.S381S|TCOF1_uc011dch.1_Silent_p.S381S|TCOF1_uc003lrz.2_Silent_p.S381S|TCOF1_uc003lrx.2_Silent_p.S304S|TCOF1_uc003lsa.2_Silent_p.S304S|TCOF1_uc011dci.1_5'Flank	p.S381S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1251	+		all_hematologic(541;0.224)	381					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1143C>A	CCDS54936.1																																																																																				0.657	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		20	66	1	0	1.26e-06	1.78e-06	20	66				
MYLK4	340156	broad.mit.edu	37	6	2675332	2675332	+	Silent	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:2675332G>C	ENST00000274643.7	-	11	1410	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	MYLK4_ENST00000268446.5_Silent_p.L356L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGGGGTGCTTGAGAGCTTCGC	0.488																																						uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.(1066-1068)CTC>CTG		myosin light chain kinase family, member 4							195.0	174.0	181.0					6																	2675332		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2675332G>C		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.1068C>G	6.37:g.2675332G>C						MYLK4_uc003mtx.3_Silent_p.L71L	p.L356L	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			11	1365	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	356			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.1068C>G	CCDS34330.1																																																																																				0.488	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		25	66	0	0	0	0	25	66				
ZNF184	7738	broad.mit.edu	37	6	27420303	27420303	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:27420303C>G	ENST00000211936.6	-	6	1319	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q345H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGGCCTCTCTGGCTAAAGG	0.423																																						uc003njj.2		NA																	0				ovary(1)	1						c.(1033-1035)CAG>CAC		zinc finger protein 184							53.0	54.0	54.0					6																	27420303		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420303C>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1035G>C	6.37:g.27420303C>G	ENSP00000211936:p.Gln345His					ZNF184_uc010jqv.2_Missense_Mutation_p.Q345H|ZNF184_uc003nji.2_Missense_Mutation_p.Q345H	p.Q345H	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1846	-			345			C2H2-type 5.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1035G>C	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267970	0.23136	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.05513	3.43;3.43	4.69	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000397	T	0.01156	0.0038	N	0.20304	0.555	0.35233	D	0.777127	B	0.27286	0.174	B	0.15484	0.013	T	0.49753	-0.8906	10	0.31617	T	0.26	.	4.8175	0.13374	0.1701:0.6616:0.0:0.1683	.	345	Q99676	ZN184_HUMAN	H	345;345;345;33	ENSP00000211936:Q345H;ENSP00000366636:Q345H	ENSP00000211936:Q345H	Q	-	3	2	ZNF184	27528282	0.002000	0.14202	1.000000	0.80357	0.950000	0.60333	0.601000	0.24119	0.714000	0.32081	-1.028000	0.02416	CAG		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		6	30	0	0	0	0	6	30				
HLA-A	3105	broad.mit.edu	37	6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(19-21)CGA>TGA		major histocompatibility complex, class I, A							35.0	37.0	37.0					6																	29910349		2201	4296	6497	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910349C>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.19C>T	6.37:g.29910349C>T	ENSP00000379873:p.Arg7*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.R7*|HLA-A_uc003noo.2_Nonsense_Mutation_p.R7*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.R7*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	p.R7*	NM_002116	NP_002107	P30443	1A01_HUMAN			1	19	+			7					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.19C>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	34	5.323259	0.95708	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	-6.36	0.01969	.	6.449800	0.01184	U	0.007157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6254	0.12476	0.2481:0.1715:0.4911:0.0893	.	.	.	.	X	7	.	ENSP00000348012:R7X	R	+	1	2	HLA-A	30018328	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.254000	0.01183	-1.159000	0.02807	-0.531000	0.04308	CGA		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		17	65	0	0	0	0	17	65				
VPS52	6293	broad.mit.edu	37	6	33219368	33219368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:33219368G>A	ENST00000445902.2	-	19	2170	c.1952C>T	c.(1951-1953)tCa>tTa	p.S651L	HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Missense_Mutation_p.S526L|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	651					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCACTGATGATTTCCAGGA	0.507																																						uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(1951-1953)TCA>TTA		vacuolar protein sorting 52							143.0	131.0	135.0					6																	33219368		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33219368G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1952C>T	6.37:g.33219368G>A	ENSP00000409952:p.Ser651Leu					VPS52_uc003odn.1_Missense_Mutation_p.S462L	p.S651L	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			19	2162	-			651					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1952C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080792	0.55753	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.26	4.26	0.50523	.	0.285900	0.34133	N	0.004228	T	0.13500	0.0327	L	0.27053	0.805	0.26960	N	0.965838	B;B	0.31153	0.31;0.051	B;B	0.24269	0.052;0.017	T	0.05419	-1.0886	9	0.51188	T	0.08	-1.712	9.8089	0.40810	0.0:0.0:0.7951:0.2048	.	462;651	B3KMF7;Q8N1B4	.;VPS52_HUMAN	L	651;629;526	.	ENSP00000414785:S629L	S	-	2	0	VPS52	33327346	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	4.957000	0.63652	2.669000	0.90835	0.551000	0.68910	TCA		0.507	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		30	74	0	0	0	0	30	74				
LRFN2	57497	broad.mit.edu	37	6	40359913	40359913	+	Silent	SNP	C	C	T	rs377714768		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:40359913C>T	ENST00000338305.6	-	3	2681	c.2139G>A	c.(2137-2139)ccG>ccA	p.P713P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	713						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P713P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCCCTCCAACGGCAAGGGGA	0.736																																						uc003oph.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(2137-2139)CCG>CCA		leucine rich repeat and fibronectin type III		G		2,4378		0,2,2188	11.0	11.0	11.0		2139	2.4	1.0	6		11	0,8574		0,0,4287	no	coding-synonymous	LRFN2	NM_020737.1		0,2,6475	TT,TC,CC		0.0,0.0457,0.0154		713/790	40359913	2,12952	2190	4287	6477	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359913C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2139G>A	6.37:g.40359913C>T							p.P713P	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2604	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		713			Cytoplasmic (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.2139G>A	CCDS34443.1																																																																																				0.736	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		5	14	0	0	0	0	5	14				
NCR2	9436	broad.mit.edu	37	6	41318601	41318601	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:41318601G>A	ENST00000373089.5	+	5	918	c.830G>A	c.(829-831)tGa>tAa	p.*277*	NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	0					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cacactttgtgaataataaaa	0.393																																						uc003oqh.2		NA																	0				ovary(1)	1						c.(829-831)TGA>TAA		natural cytotoxicity triggering receptor 2							86.0	85.0	85.0					6																	41318601		2203	4300	6503	SO:0001819	synonymous_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41318601G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.830G>A	6.37:g.41318601G>A						NCR2_uc003oqi.2_3'UTR|NCR2_uc003oqj.2_3'UTR	p.*277*	NM_004828	NP_004819	O95944	NCTR2_HUMAN			5	917	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		277					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	c.830G>A	CCDS4855.1																																																																																				0.393	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			15	39	0	0	0	0	15	39				
MAN1A1	4121	broad.mit.edu	37	6	119501047	119501047	+	Silent	SNP	G	G	A	rs569954263		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:119501047G>A	ENST00000368468.3	-	13	2340	c.1899C>T	c.(1897-1899)agC>agT	p.S633S		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	633					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GATGTGCCTCGCTATTGAAGA	0.378																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1897-1899)AGC>AGT		mannosidase, alpha, class 1A, member 1							98.0	99.0	98.0					6																	119501047		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119501047G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1899C>T	6.37:g.119501047G>A							p.S633S	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	13	2341	-		all_epithelial(87;0.173)	633			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1899C>T	CCDS5122.1																																																																																				0.378	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		9	39	0	0	0	0	9	39				
NCOA7	135112	broad.mit.edu	37	6	126203622	126203622	+	Silent	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:126203622G>A	ENST00000368357.3	+	8	976	c.624G>A	c.(622-624)tcG>tcA	p.S208S	NCOA7_ENST00000392477.2_Silent_p.S208S|NCOA7_ENST00000229634.9_Silent_p.S104S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	208					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGTCTTATCGTCTACTTCTG	0.348																																						uc010kes.2		NA																	0				lung(2)|ovary(1)	3						c.(622-624)TCG>TCA		nuclear receptor coactivator 7 isoform 1							51.0	50.0	50.0					6																	126203622		2203	4300	6503	SO:0001819	synonymous_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126203622G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.624G>A	6.37:g.126203622G>A						NCOA7_uc003qae.3_Silent_p.S208S|NCOA7_uc003qah.2_Silent_p.S208S|NCOA7_uc003qai.2_Silent_p.S208S|NCOA7_uc010ket.2_Silent_p.S104S|NCOA7_uc003qaf.2_Silent_p.S208S|NCOA7_uc003qag.2_Silent_p.S208S	p.S208S	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	9	1073	+			208					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	c.624G>A	CCDS5132.1																																																																																				0.348	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		7	39	0	0	0	0	7	39				
NCOA7	135112	broad.mit.edu	37	6	126210917	126210917	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:126210917G>A	ENST00000368357.3	+	10	2069	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	NCOA7_ENST00000392477.2_Missense_Mutation_p.E573K|NCOA7_ENST00000229634.9_Missense_Mutation_p.E458K	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	573					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TCCCATAACTGAGGGCAATAA	0.438																																						uc010kes.2		NA																	0				lung(2)|ovary(1)	3						c.(1717-1719)GAG>AAG		nuclear receptor coactivator 7 isoform 1							53.0	57.0	55.0					6																	126210917		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210917G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1717G>A	6.37:g.126210917G>A	ENSP00000357341:p.Glu573Lys					NCOA7_uc003qae.3_Missense_Mutation_p.E573K|NCOA7_uc003qah.2_Missense_Mutation_p.E562K|NCOA7_uc003qai.2_Missense_Mutation_p.E573K|NCOA7_uc010ket.2_Missense_Mutation_p.E458K	p.E573K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	2166	+			573					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1717G>A	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054912	0.19907	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.28	4.39	0.52855	.	0.759984	0.12714	N	0.445240	T	0.08447	0.0210	N	0.17082	0.46	0.09310	N	0.999999	B;B;B	0.17852	0.024;0.003;0.001	B;B;B	0.15052	0.012;0.003;0.001	T	0.28170	-1.0052	10	0.20046	T	0.44	-0.4162	9.4648	0.38806	0.0744:0.1447:0.7809:0.0	.	562;562;573	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	K	573;573;458;371	ENSP00000357341:E573K;ENSP00000376269:E573K;ENSP00000229634:E458K;ENSP00000389186:E371K	ENSP00000229634:E458K	E	+	1	0	NCOA7	126252610	1.000000	0.71417	0.032000	0.17829	0.483000	0.33249	3.957000	0.56730	1.417000	0.47077	0.655000	0.94253	GAG		0.438	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		13	43	0	0	0	0	13	43				
SYNE1	23345	broad.mit.edu	37	6	152706952	152706952	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:152706952C>T	ENST00000367255.5	-	55	9110	c.8509G>A	c.(8509-8511)Gag>Aag	p.E2837K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2876K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2837K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2844K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2844K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2837					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCACAATCTCTTCCACTTTC	0.408										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8509-8511)GAG>AAG		spectrin repeat containing, nuclear envelope 1							145.0	133.0	137.0					6																	152706952		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706952C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8509G>A	6.37:g.152706952C>T	ENSP00000356224:p.Glu2837Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E2844K|SYNE1_uc003qou.3_Missense_Mutation_p.E2837K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2820K	p.E2837K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9111	-		Ovarian(120;0.0955)	2837			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8509G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709233	0.48517	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54071	0.68;0.72;0.59;0.73;0.88	5.66	5.66	0.87406	.	0.224147	0.33180	N	0.005181	T	0.34019	0.0883	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.31625	0.181;0.102;0.102;0.332	B;B;B;B	0.29862	0.054;0.05;0.05;0.108	T	0.19128	-1.0315	10	0.18276	T	0.48	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	2820;2837;2837;2844	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2837;2844;2837;2844;2876	ENSP00000356224:E2837K;ENSP00000396024:E2844K;ENSP00000265368:E2837K;ENSP00000390975:E2844K;ENSP00000341887:E2876K	ENSP00000265368:E2837K	E	-	1	0	SYNE1	152748645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.669000	0.90835	0.591000	0.81541	GAG		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	79	0	0	0	0	19	79				
QKI	9444	broad.mit.edu	37	6	163876442	163876442	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:163876442G>C	ENST00000361752.3	+	2	825	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	QKI_ENST00000361195.2_Missense_Mutation_p.E92Q|QKI_ENST00000275262.7_Missense_Mutation_p.E92Q|QKI_ENST00000453779.2_Missense_Mutation_p.E92Q|QKI_ENST00000392127.2_Missense_Mutation_p.E92Q|QKI_ENST00000424802.3_Missense_Mutation_p.E92Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	92	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCCTGTAAAAGAATACCCAGA	0.343																																						uc003qui.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(274-276)GAA>CAA		quaking homolog, KH domain RNA binding isoform							164.0	168.0	167.0					6																	163876442		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163876442G>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.274G>C	6.37:g.163876442G>C	ENSP00000355094:p.Glu92Gln					QKI_uc003que.2_Missense_Mutation_p.E92Q|QKI_uc003quf.2_Missense_Mutation_p.E92Q|QKI_uc003qug.2_Missense_Mutation_p.E92Q|QKI_uc003quh.2_Missense_Mutation_p.E92Q|QKI_uc003quj.2_Missense_Mutation_p.E92Q	p.E92Q	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	2	825	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	92			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.274G>C	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.921208|2.921208	0.52653|0.52653	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000537124;ENST00000544823|ENST00000537883	T;T;T;T;T;T;T;T;T|.	0.17528|.	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27|.	6.16|6.16	6.16|6.16	0.99307|0.99307	K Homology (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64249|0.64249	0.2581|0.2581	L|L	0.46947|0.46947	1.48|1.48	0.80722|0.80722	D|D	1|1	D;P;D;P;P;D|.	0.89917|.	0.963;0.754;1.0;0.924;0.924;1.0|.	P;B;D;B;B;D|.	0.71656|.	0.586;0.107;0.974;0.401;0.401;0.974|.	T|T	0.56535|0.56535	-0.7963|-0.7963	10|5	0.46703|.	T|.	0.11|.	-2.9486|-2.9486	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92;92;92;92;92;92|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	Q|T	92;92;92;92;92;92;37;37;37;37|27	ENSP00000408775:E92Q;ENSP00000275262:E92Q;ENSP00000375973:E92Q;ENSP00000355094:E92Q;ENSP00000354867:E92Q;ENSP00000408382:E92Q;ENSP00000443690:E37Q;ENSP00000440991:E37Q;ENSP00000440599:E37Q|.	ENSP00000275262:E92Q|.	E|R	+|+	1|2	0|0	QKI|QKI	163796432|163796432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.447000|9.447000	0.97595|0.97595	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.343	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		24	54	0	0	0	0	24	54				
DGKB	1607	broad.mit.edu	37	7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CGATGGCTTCGTCTTTTCTTA	0.398																																						uc003ssz.2		NA																	2	Substitution - Nonsense(2)		large_intestine(1)|kidney(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2041-2043)CGA>TGA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						173.0	157.0	162.0					7																	14378224		1861	4099	5960	SO:0001587	stop_gained	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378224G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2041C>T	7.37:g.14378224G>A	ENSP00000385780:p.Arg681*					DGKB_uc011jxt.1_Nonsense_Mutation_p.R662*|DGKB_uc003sta.2_Nonsense_Mutation_p.R681*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R680*	p.R681*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2228	-			681					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	c.2041C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.316506	0.98757	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.5	-0.408	0.12381	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4311	0.87539	0.0:0.0:0.2508:0.7492	.	.	.	.	X	681;681;681;680;673;662;681	.	ENSP00000258767:R681X	R	-	1	2	DGKB	14344749	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	0.877000	0.28106	-0.425000	0.07371	0.650000	0.86243	CGA		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		30	68	0	0	0	0	30	68				
GRM3	2913	broad.mit.edu	37	7	86468769	86468769	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:86468769G>A	ENST00000361669.2	+	4	3038	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R	GRM3_ENST00000546348.1_Missense_Mutation_p.G239R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G519R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	647					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCGCCGACTCGGGCTGGGGAG	0.527																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1939-1941)GGG>AGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						193.0	168.0	176.0					7																	86468769		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468769G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1939G>A	7.37:g.86468769G>A	ENSP00000355316:p.Gly647Arg					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G519R|GRM3_uc010leh.2_Missense_Mutation_p.G239R	p.G647R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3038	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		647			Helical; Name=3; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1939G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982936	0.74474	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88124	-2.34;-2.34;-2.34	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.045649	0.85682	D	0.000000	D	0.93671	0.7978	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.93699	0.7014	10	0.62326	D	0.03	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	239;519;647	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	R	647;239;519	ENSP00000355316:G647R;ENSP00000444064:G239R;ENSP00000441407:G519R	ENSP00000355316:G647R	G	+	1	0	GRM3	86306705	1.000000	0.71417	0.951000	0.38953	0.885000	0.51271	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	GGG		0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			53	136	0	0	0	0	53	136				
ZNF789	285989	broad.mit.edu	37	7	99084583	99084583	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:99084583T>G	ENST00000331410.5	+	5	1020	c.750T>G	c.(748-750)tgT>tgG	p.C250W	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATAAACAGTGTCACCTGCAAA	0.428																																						uc003uqq.1		NA																	0					0						c.(748-750)TGT>TGG		zinc finger protein 789 isoform 1							87.0	93.0	91.0					7																	99084583		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084583T>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.750T>G	7.37:g.99084583T>G	ENSP00000331927:p.Cys250Trp					ZNF789_uc010lfw.1_Missense_Mutation_p.C155W|ZNF789_uc003uqr.1_Missense_Mutation_p.C192W	p.C250W	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN			5	969	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		250			C2H2-type 2.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.750T>G	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622674	0.46840	.	.	ENSG00000198556	ENST00000331410	T	0.30981	1.51	2.68	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28466	0.0704	L	0.35414	1.06	0.80722	D	1	D	0.58620	0.983	P	0.51297	0.665	T	0.06023	-1.0850	9	0.87932	D	0	.	6.0348	0.19702	0.0:0.1344:0.0:0.8656	.	250	Q5FWF6	ZN789_HUMAN	W	250	ENSP00000331927:C250W	ENSP00000331927:C250W	C	+	3	2	ZNF789	98922519	0.000000	0.05858	0.244000	0.24202	0.991000	0.79684	-0.584000	0.05800	0.467000	0.27218	0.528000	0.53228	TGT		0.428	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		27	67	0	0	0	0	27	67				
WASL	8976	broad.mit.edu	37	7	123346798	123346798	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:123346798C>T	ENST00000223023.4	-	3	667	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	112	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTTACATCTCCAGCAAAGGT	0.284																																						uc003vkz.2		NA																	0					0						c.(334-336)GGA>GAA		Wiskott-Aldrich syndrome gene-like protein							46.0	50.0	49.0					7																	123346798		2198	4274	6472	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123346798C>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.335G>A	7.37:g.123346798C>T	ENSP00000223023:p.Gly112Glu						p.G112E	NM_003941	NP_003932	O00401	WASL_HUMAN			3	663	-			112			WH1.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.335G>A	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009460	0.93346	.	.	ENSG00000106299	ENST00000223023	D	0.98717	-5.09	5.56	5.56	0.83823	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99868	1.1092	10	0.87932	D	0	-20.053	19.9019	0.96988	0.0:1.0:0.0:0.0	.	112	O00401	WASL_HUMAN	E	112	ENSP00000223023:G112E	ENSP00000223023:G112E	G	-	2	0	WASL	123134034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.781000	0.95711	0.650000	0.86243	GGA		0.284	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		18	38	0	0	0	0	18	38				
TMEM140	55281	broad.mit.edu	37	7	134849458	134849458	+	Missense_Mutation	SNP	G	G	A	rs143180494		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:134849458G>A	ENST00000275767.3	+	2	488	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	89						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGGCGTGTACGGGTCCCTGGT	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0					uc003vsi.2		NA																	0				large_intestine(1)	1						c.(265-267)GGG>AGG		transmembrane protein 140							67.0	64.0	65.0					7																	134849458		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849458G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.265G>A	7.37:g.134849458G>A	ENSP00000275767:p.Gly89Arg					C7orf49_uc003vsh.2_Intron	p.G89R	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	546	+			89			Helical; (Potential).		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.265G>A	CCDS5837.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.82	3.229745	0.58777	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.31510	1.49	5.28	5.28	0.74379	.	0.000000	0.53938	D	0.000042	T	0.55593	0.1930	M	0.69823	2.125	0.37507	D	0.917009	D	0.89917	1.0	D	0.87578	0.998	T	0.61978	-0.6951	10	0.72032	D	0.01	-28.3504	15.9541	0.79871	0.0:0.0:1.0:0.0	.	89	Q9NV12	TM140_HUMAN	R	89	ENSP00000275767:G89R	ENSP00000275767:G89R	G	+	1	0	TMEM140	134499998	0.362000	0.24980	0.957000	0.39632	0.174000	0.22865	2.565000	0.45939	2.746000	0.94184	0.655000	0.94253	GGG		0.652	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		38	69	0	0	0	0	38	69				
TAF2	6873	broad.mit.edu	37	8	120818639	120818639	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr8:120818639C>T	ENST00000378164.2	-	4	600	c.302G>A	c.(301-303)aGa>aAa	p.R101K		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	101					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTGAGGTTTCTCCTGGGGAA	0.348																																						uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(301-303)AGA>AAA		TBP-associated factor 2							95.0	92.0	93.0					8																	120818639		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120818639C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.302G>A	8.37:g.120818639C>T	ENSP00000367406:p.Arg101Lys						p.R101K	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	572	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		101					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.302G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200407	0.79015	.	.	ENSG00000064313	ENST00000378164	T	0.02579	4.24	5.35	5.35	0.76521	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04003	0.0112	N	0.25647	0.755	0.80722	D	1	P	0.36599	0.56	B	0.40659	0.336	T	0.62210	-0.6902	10	0.17369	T	0.5	-23.2562	19.4318	0.94772	0.0:1.0:0.0:0.0	.	101	Q6P1X5	TAF2_HUMAN	K	101	ENSP00000367406:R101K	ENSP00000367406:R101K	R	-	2	0	TAF2	120887820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.734000	0.84928	2.668000	0.90789	0.591000	0.81541	AGA		0.348	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		18	64	0	0	0	0	18	64				
ZC3H3	23144	broad.mit.edu	37	8	144557590	144557590	+	Silent	SNP	G	G	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr8:144557590G>T	ENST00000262577.5	-	5	1912	c.1881C>A	c.(1879-1881)ggC>ggA	p.G627G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	627					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGCCTGCTGCCCGCATCAC	0.657																																						uc003yyd.2		NA																	0				skin(1)	1						c.(1879-1881)GGC>GGA		zinc finger CCCH-type containing 3							42.0	44.0	44.0					8																	144557590		2202	4300	6502	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144557590G>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1881C>A	8.37:g.144557590G>T							p.G627G	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		5	1910	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		627					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.1881C>A	CCDS6402.1																																																																																				0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		13	37	1	0	4.37e-10	6.3e-10	13	37				
TAF1L	138474	broad.mit.edu	37	9	32635389	32635389	+	Silent	SNP	C	C	T	rs55895024	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:32635389C>T	ENST00000242310.4	-	1	278	c.189G>A	c.(187-189)aaG>aaA	p.K63K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	63					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGCCAAGTGCTTCTTACACT	0.547													C|||	40	0.00798722	0.0023	0.0029	5008	,	,		15202	0.001		0.0209	False		,,,				2504	0.0133					uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(187-189)AAG>AAA		TBP-associated factor RNA polymerase 1-like		C		23,4383	29.9+/-59.1	0,23,2180	114.0	109.0	110.0		189	0.5	0.9	9	dbSNP_129	110	192,8408	85.8+/-148.2	1,190,4109	no	coding-synonymous	TAF1L	NM_153809.2		1,213,6289	TT,TC,CC		2.2326,0.522,1.6531		63/1827	32635389	215,12791	2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635389C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.189G>A	9.37:g.32635389C>T						uc003zrh.1_Intron	p.K63K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	279	-			63					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.189G>A	CCDS35003.1																																																																																				0.547	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			35	134	0	0	0	0	35	134				
UBE2R2	54926	broad.mit.edu	37	9	33917126	33917126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:33917126C>G	ENST00000263228.3	+	5	799	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	203	Asp/Glu-rich (acidic).				protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GACAACAGCTCAGATTTGCTT	0.463																																						uc003ztm.2		NA																	0					0						c.(607-609)TCA>TGA		ubiquitin-conjugating enzyme UBC3B							195.0	162.0	173.0					9																	33917126		2203	4300	6503	SO:0001587	stop_gained	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33917126C>G	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.608C>G	9.37:g.33917126C>G	ENSP00000263228:p.Ser203*						p.S203*	NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	5	1182	+			203			Asp/Glu-rich (acidic).		D3DRL5|Q9NX64	Nonsense_Mutation	SNP	ENST00000263228.3	37	c.608C>G	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164687	0.94727	.	.	ENSG00000107341	ENST00000263228	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-3.8637	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000263228:S203X	S	+	2	0	UBE2R2	33907126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.991000	0.70602	2.882000	0.98803	0.655000	0.94253	TCA		0.463	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		8	66	0	0	0	0	8	66				
ARID3C	138715	broad.mit.edu	37	9	34623560	34623560	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:34623560G>A	ENST00000378909.2	-	4	819	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	243	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGAGCGCCCCGAGGGGGCGGC	0.746																																						uc011lon.1		NA																	0				ovary(1)	1						c.(727-729)CGG>TGG		AT rich interactive domain 3C (BRIGHT- like)							10.0	14.0	13.0					9																	34623560		2148	4172	6320	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623560G>A		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.727C>T	9.37:g.34623560G>A	ENSP00000368189:p.Arg243Trp						p.R243W	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	727	-	all_epithelial(49;0.102)		243			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.727C>T	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098656	0.56183	.	.	ENSG00000205143	ENST00000378909	T	0.44881	0.91	4.45	2.57	0.30868	.	1.902110	0.03220	N	0.177326	T	0.39682	0.1087	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21518	-1.0243	10	0.46703	T	0.11	-8.3529	5.8879	0.18892	0.101:0.0:0.7114:0.1876	.	243	A6NKF2	ARI3C_HUMAN	W	243	ENSP00000368189:R243W	ENSP00000368189:R243W	R	-	1	2	ARID3C	34613560	0.986000	0.35501	0.064000	0.19789	0.038000	0.13279	3.379000	0.52440	0.428000	0.26173	0.478000	0.44815	CGG		0.746	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		7	42	0	0	0	0	7	42				
TLN1	7094	broad.mit.edu	37	9	35715166	35715166	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:35715166C>T	ENST00000314888.9	-	21	2997	c.2644G>A	c.(2644-2646)Gac>Aac	p.D882N	TLN1_ENST00000540444.1_Missense_Mutation_p.D882N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	882					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCACTGTCAGGGTGGGCA	0.592																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2644-2646)GAC>AAC		talin 1							27.0	30.0	29.0					9																	35715166		2199	4297	6496	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715166C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2644G>A	9.37:g.35715166C>T	ENSP00000316029:p.Asp882Asn						p.D882N	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	2998	-	all_epithelial(49;0.167)		882					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2644G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807231	0.50421	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.29;-0.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	N	0.02142	-0.665	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43861	-0.9365	10	0.10377	T	0.69	-23.1839	19.7629	0.96329	0.0:1.0:0.0:0.0	.	882	Q9Y490	TLN1_HUMAN	N	882	ENSP00000316029:D882N;ENSP00000442981:D882N	ENSP00000316029:D882N	D	-	1	0	TLN1	35705166	1.000000	0.71417	0.974000	0.42286	0.814000	0.46013	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GAC		0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	93	0	0	0	0	10	93				
C9orf135	138255	broad.mit.edu	37	9	72471558	72471558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:72471558G>A	ENST00000377197.3	+	3	436	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.E117K	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	117						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTTATTGAATGAGGAAACAGT	0.348																																						uc004ahl.2		NA																	0				ovary(1)	1						c.(349-351)GAG>AAG		hypothetical protein LOC138255							109.0	115.0	113.0					9																	72471558		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72471558G>A		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.349G>A	9.37:g.72471558G>A	ENSP00000366402:p.Glu117Lys					C9orf135_uc011lrw.1_Missense_Mutation_p.E9K|C9orf135_uc010moq.2_Missense_Mutation_p.E9K|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Missense_Mutation_p.E117K	p.E117K	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN			3	414	+			117			Extracellular (Potential).		A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.349G>A	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661210	0.14645	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	5.09	3.98	0.46160	.	0.346415	0.24713	N	0.036207	T	0.32763	0.0840	L	0.40543	1.245	0.31370	N	0.680348	B;B	0.22909	0.077;0.077	B;B	0.23275	0.045;0.045	T	0.23190	-1.0195	9	0.07813	T	0.8	-9.5236	9.3565	0.38171	0.1138:0.0:0.8862:0.0	.	117;117	A7E2U4;Q5VTT2	.;CI135_HUMAN	K	117	.	ENSP00000366402:E117K	E	+	1	0	C9orf135	71661378	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	2.192000	0.42649	2.378000	0.81104	0.591000	0.81541	GAG		0.348	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		8	69	0	0	0	0	8	69				
IARS	3376	broad.mit.edu	37	9	95043130	95043130	+	Missense_Mutation	SNP	C	C	G	rs267602313		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:95043130C>G	ENST00000375643.3	-	7	909	c.643G>C	c.(643-645)Gat>Cat	p.D215H	IARS_ENST00000447699.2_Missense_Mutation_p.D105H|IARS_ENST00000443024.2_Missense_Mutation_p.D215H|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	215					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACAGTTTCATCTTCTTCCAAA	0.353																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(643-645)GAT>CAT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						96.0	89.0	91.0					9																	95043130		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043130C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.643G>C	9.37:g.95043130C>G	ENSP00000364794:p.Asp215His					IARS_uc004ars.1_Missense_Mutation_p.D60H|IARS_uc004aru.3_Missense_Mutation_p.D215H|IARS_uc010mqr.2_Missense_Mutation_p.D105H|IARS_uc010mqt.2_Intron	p.D215H	NM_013417	NP_038203	P41252	SYIC_HUMAN			7	900	-			215					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.643G>C	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006304	0.54361	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.55	5.55	0.83447	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.099573	0.64402	D	0.000002	T	0.66096	0.2755	M	0.87038	2.855	0.80722	D	1	D;P	0.64830	0.994;0.703	D;B	0.67382	0.951;0.41	T	0.71388	-0.4608	10	0.87932	D	0	-24.7841	18.6371	0.91383	0.0:1.0:0.0:0.0	.	215;60	P41252;Q6P0M4	SYIC_HUMAN;.	H	215;215;105;215;215	ENSP00000364794:D215H;ENSP00000406448:D215H;ENSP00000415020:D105H;ENSP00000378922:D215H	ENSP00000364794:D215H	D	-	1	0	IARS	94082951	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.677000	0.61634	2.773000	0.95371	0.655000	0.94253	GAT		0.353	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		4	52	0	0	0	0	4	52				
C5	727	broad.mit.edu	37	9	123731393	123731393	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:123731393G>C	ENST00000223642.1	-	33	4195	c.4166C>G	c.(4165-4167)tCc>tGc	p.S1389C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1389					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCTGTAGTGGGATGCTGGCAC	0.413																																						uc004bkv.2		NA																	0				ovary(2)	2						c.(4165-4167)TCC>TGC		complement component 5 preproprotein	Eculizumab(DB01257)						125.0	116.0	119.0					9																	123731393		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123731393G>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4166C>G	9.37:g.123731393G>C	ENSP00000223642:p.Ser1389Cys						p.S1389C	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	33	4196	-			1389					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4166C>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669948	0.47677	.	.	ENSG00000106804	ENST00000223642	T	0.32515	1.45	5.25	3.2	0.36748	Alpha-macroglobulin, receptor-binding (2);	1.561810	0.03925	N	0.284292	T	0.32224	0.0822	L	0.54323	1.7	0.09310	N	1	P	0.50369	0.934	B	0.40702	0.338	T	0.27123	-1.0083	10	0.54805	T	0.06	.	7.3614	0.26748	0.0967:0.0:0.7255:0.1777	.	1389	P01031	CO5_HUMAN	C	1389	ENSP00000223642:S1389C	ENSP00000223642:S1389C	S	-	2	0	C5	122771214	0.066000	0.20996	0.601000	0.28877	0.172000	0.22775	1.323000	0.33701	1.220000	0.43490	0.313000	0.20887	TCC		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		15	106	0	0	0	0	15	106				
TTLL11	158135	broad.mit.edu	37	9	124751422	124751422	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:124751422T>A	ENST00000373776.3	-	4	1778	c.1591A>T	c.(1591-1593)Agg>Tgg	p.R531W	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	531	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAGAGAGCCCTCTTGAGGCCG	0.627																																						uc004blt.1		NA																	0					0						c.(1591-1593)AGG>TGG		tubulin tyrosine ligase-like family, member 11							60.0	60.0	60.0					9																	124751422		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751422T>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1591A>T	9.37:g.124751422T>A	ENSP00000362881:p.Arg531Trp					TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR	p.R531W	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1779	-			531			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1591A>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	T	7.242	0.601516	0.13939	.	.	ENSG00000175764	ENST00000373776	T	0.09723	2.95	2.61	0.113	0.14631	.	0.573703	0.16472	U	0.212941	T	0.04497	0.0123	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33675	-0.9859	10	0.87932	D	0	.	3.3714	0.07222	0.2335:0.0:0.2415:0.525	.	531	Q8NHH1	TTL11_HUMAN	W	531	ENSP00000362881:R531W	ENSP00000362881:R531W	R	-	1	2	TTLL11	123791243	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-1.244000	0.02902	0.006000	0.14734	-1.511000	0.00944	AGG		0.627	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		29	113	0	0	0	0	29	113				
LRSAM1	90678	broad.mit.edu	37	9	130257620	130257620	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:130257620G>A	ENST00000323301.4	+	21	2225	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E541K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E541K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E514K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	541					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGCCAAAAGTGAAACCAGGCA	0.468																																						uc004brb.1		NA																	0					0						c.(1621-1623)GAA>AAA		leucine rich repeat and sterile alpha motif							83.0	79.0	80.0					9																	130257620		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130257620G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1621G>A	9.37:g.130257620G>A	ENSP00000322937:p.Glu541Lys					LRSAM1_uc010mxk.1_Missense_Mutation_p.E514K|LRSAM1_uc004brc.1_Missense_Mutation_p.E541K|LRSAM1_uc004brd.1_Missense_Mutation_p.E541K|LRSAM1_uc004bre.1_Missense_Mutation_p.E121K|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_5'UTR	p.E541K	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			22	1966	+			541			Potential.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1621G>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008374	0.93346	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76186	1.36;-1.0;1.36;1.36	5.73	5.73	0.89815	.	0.047524	0.85682	D	0.000000	D	0.83908	0.5356	L	0.53249	1.67	0.58432	D	0.999995	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.98	D	0.84361	0.0538	10	0.72032	D	0.01	-17.9414	17.7591	0.88459	0.0:0.0:1.0:0.0	.	514;541	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	541;514;541;541	ENSP00000300417:E541K;ENSP00000362421:E514K;ENSP00000322937:E541K;ENSP00000362419:E541K	ENSP00000300417:E541K	E	+	1	0	LRSAM1	129297441	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	7.709000	0.84645	2.854000	0.98071	0.655000	0.94253	GAA		0.468	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		8	46	0	0	0	0	8	46				
AK1	203	broad.mit.edu	37	9	130630646	130630646	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:130630646G>A	ENST00000373176.1	-	6	622	c.470C>T	c.(469-471)aCa>aTa	p.T157I	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Missense_Mutation_p.T173I|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.T157I	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						GACAGGTTCTGTGGCCTTGTA	0.592																																						uc004bsm.3		NA																	0					0						c.(469-471)ACA>ATA		adenylate kinase 1							93.0	67.0	76.0					9																	130630646		2203	4300	6503	SO:0001583	missense	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130630646G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.470C>T	9.37:g.130630646G>A	ENSP00000362271:p.Thr157Ile						p.T157I	NM_000476	NP_000467	P00568	KAD1_HUMAN			6	623	-			157						Missense_Mutation	SNP	ENST00000373176.1	37	c.470C>T	CCDS6881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.518569|4.518569	0.85495|0.85495	.|.	.|.	ENSG00000106992|ENSG00000106992	ENST00000413016|ENST00000373176;ENST00000373156;ENST00000223836	.|T;T;T	.|0.73897	.|-0.79;-0.79;-0.79	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.88610	.|0.6483	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.90622	.|0.4560	.|10	.|0.87932	.|D	.|0	-13.765|-13.765	17.6353|17.6353	0.88120|0.88120	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|157	.|P00568	.|KAD1_HUMAN	X|I	98|157;157;173	.|ENSP00000362271:T157I;ENSP00000362249:T157I;ENSP00000223836:T173I	.|ENSP00000223836:T173I	Q|T	-|-	1|2	0|0	AK1|AK1	129670467|129670467	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.929000|0.929000	0.56500|0.56500	9.378000|9.378000	0.97191|0.97191	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	CAG|ACA		0.592	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			10	17	0	0	0	0	10	17				
PRRC2B	84726	broad.mit.edu	37	9	134321939	134321939	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:134321939C>T	ENST00000357304.4	+	6	820	c.765C>T	c.(763-765)ctC>ctT	p.L255L	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Silent_p.L255L|PRRC2B_ENST00000405995.1_Silent_p.L255L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	255							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACCCCTCTCTCCGCCCGGCTC	0.562																																						uc004can.3		NA																	0					0						c.(763-765)CTC>CTT		HLA-B associated transcript 2-like							63.0	62.0	62.0					9																	134321939		1915	4124	6039	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134321939C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.765C>T	9.37:g.134321939C>T						BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.L255L	p.L255L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			6	820	+			255					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.765C>T	CCDS48044.1																																																																																				0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	48	0	0	0	0	5	48				
FAM69B	138311	broad.mit.edu	37	9	139617956	139617956	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:139617956C>T	ENST00000371692.4	+	5	1122	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	FAM69B_ENST00000371691.1_Silent_p.Y255Y|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	342						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACTGCACCTACGGGCGCGACT	0.687																																						uc004cik.2		NA																	0					0						c.(1024-1026)TAC>TAT		hypothetical protein LOC138311							18.0	15.0	16.0					9																	139617956		2197	4294	6491	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617956C>T		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.1026C>T	9.37:g.139617956C>T						FAM69B_uc004cil.2_Silent_p.Y255Y|SNHG7_uc004cim.2_Intron	p.Y342Y	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	5	1120	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	342			Lumenal (Potential).		Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.1026C>T	CCDS7004.1																																																																																				0.687	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		8	13	0	0	0	0	8	13				
SYAP1	94056	broad.mit.edu	37	X	16737953	16737953	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chrX:16737953G>C	ENST00000380155.3	+	1	199	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	SYAP1_ENST00000495743.1_3'UTR	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	36						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GACGGTGGCTGAGTCTGCGGA	0.667																																						uc004cxp.2		NA																	0				skin(1)	1						c.(106-108)GAG>CAG		SYAP1 protein							12.0	14.0	13.0					X																	16737953		2190	4279	6469	SO:0001583	missense	94056							g.chrX:16737953G>C	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.106G>C	X.37:g.16737953G>C	ENSP00000369500:p.Glu36Gln					SYAP1_uc004cxo.2_Missense_Mutation_p.E36Q|SYAP1_uc011miv.1_Silent_p.L14L	p.E36Q	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN			1	199	+	Hepatocellular(33;0.0997)		36					Q68CP1|Q96C60|Q96JQ6|Q96T20	Missense_Mutation	SNP	ENST00000380155.3	37	c.106G>C	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	G	7.730	0.698955	0.15106	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.93	3.13	0.36017	.	1.039030	0.07464	N	0.901055	T	0.33556	0.0867	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.12156	0.002;0.007	T	0.29882	-0.9997	9	0.25751	T	0.34	-32.9068	8.3373	0.32221	0.0811:0.2874:0.6314:0.0	.	36;36	Q96A49;B2RBI2	SYAP1_HUMAN;.	Q	36	.	ENSP00000369500:E36Q	E	+	1	0	SYAP1	16647874	0.782000	0.28689	0.001000	0.08648	0.016000	0.09150	2.195000	0.42677	0.238000	0.21222	-0.196000	0.12772	GAG		0.667	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		4	3	0	0	0	0	4	3				
SSX1	6756	broad.mit.edu	37	X	48123288	48123288	+	Silent	SNP	C	C	T			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chrX:48123288C>T	ENST00000376919.3	+	6	538	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GCCCACAAAACGATGGGAAAC	0.423			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1		NA		Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	0				soft_tissue(1169)	1169						c.(400-402)AAC>AAT		synovial sarcoma, X breakpoint 1							156.0	144.0	148.0					X																	48123288		2203	4299	6502	SO:0001819	synonymous_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48123288C>T	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.402C>T	X.37:g.48123288C>T							p.N134N	NM_005635	NP_005626	Q16384	SSX1_HUMAN			6	493	+			134					A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	ENST00000376919.3	37	c.402C>T	CCDS14290.1																																																																																				0.423	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		82	59	0	0	0	0	82	59				
MBD6	114785	broad.mit.edu	37	12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:57920934delC	ENST00000355673.3	+	7	2362	c.2006delC	c.(2005-2007)gccfs	p.A669fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.A669fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCACTTTCAGCCCCCCCTACC	0.642																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2005-2007)GCCfs		methyl-CpG binding domain protein 6							17.0	18.0	18.0					12																	57920934		2200	4294	6494	SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920934delC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2006delC	12.37:g.57920934delC	ENSP00000347896:p.Ala669fs					MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA	p.A669fs	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			7	2230	+			669			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.2006delC	CCDS8944.1																																																																																				0.642	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			14	29	NA	NA	NA	NA	14	29	---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17720296	17720297	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:17720296_17720297insTT	ENST00000261646.5	-	9	1944_1945	c.1760_1761insAA	c.(1759-1761)aagfs	p.K587fs	SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.K333fs|SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.K617fs|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Frame_Shift_Ins_p.K587fs	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	587					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGTCAGCCTGCTTGCGATGCCT	0.653																																						uc002gru.1		NA																	0				skin(1)	1						c.(1759-1761)AAGfs		sterol regulatory element binding transcription																																				SO:0001589	frameshift_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17720296_17720297insTT	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1759_1760dupAA	17.37:g.17720297_17720298dupTT	ENSP00000261646:p.Lys587fs					SREBF1_uc002grp.1_Frame_Shift_Ins_p.K206fs|SREBF1_uc002grq.1_Frame_Shift_Ins_p.K106fs|SREBF1_uc002grr.1_Frame_Shift_Ins_p.K333fs|SREBF1_uc002grs.1_Frame_Shift_Ins_p.K563fs|SREBF1_uc002grt.1_Frame_Shift_Ins_p.K617fs	p.K587fs	NM_004176	NP_004167	P36956	SRBP1_HUMAN			9	1954_1955	-			587			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	ENST00000261646.5	37	c.1760_1761insAA	CCDS11189.1																																																																																				0.653	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		37	100	NA	NA	NA	NA	37	100	---	---	---	---
RSAD1	55316	broad.mit.edu	37	17	48556334	48556334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:48556334delC	ENST00000258955.2	+	1	174	c.89delC	c.(88-90)tccfs	p.S30fs		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	30					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGAGGGTCCCCGAGTCCT	0.776											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iqw.1		NA																	0					0						c.(88-90)TCCfs		radical S-adenosyl methionine domain containing							3.0	4.0	4.0					17																	48556334		1890	3726	5616	SO:0001589	frameshift_variant	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48556334delC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.89delC	17.37:g.48556334delC	ENSP00000258955:p.Ser30fs		OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	RSAD1_uc010wmp.1_Frame_Shift_Del_p.S30fs|RSAD1_uc010wmq.1_RNA	p.S30fs	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	145	+	Breast(11;1.93e-18)		30					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Frame_Shift_Del	DEL	ENST00000258955.2	37	c.89delC	CCDS11569.1																																																																																				0.776	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768086	57768086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:57768086delT	ENST00000371030.2	+	1	2012	c.2012delT	c.(2011-2013)gtcfs	p.V671fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	671							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCAGGCACAGTCCCCACCCAA	0.622																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2011-2013)GTCfs		zinc finger protein 831							37.0	47.0	43.0					20																	57768086		2086	4217	6303	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768086delT	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2012delT	20.37:g.57768086delT	ENSP00000360069:p.Val671fs						p.V671fs	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2012	+	all_lung(29;0.0085)		671					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.2012delT	CCDS42894.1																																																																																				0.622	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		19	35	NA	NA	NA	NA	19	35	---	---	---	---
