#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
KIAA1522	57648	broad.mit.edu	37	1	33235551	33235551	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:33235551C>T	ENST00000373480.1	+	6	697	c.594C>T	c.(592-594)ccC>ccT	p.P198P	KIAA1522_ENST00000373481.3_Silent_p.P209P|KIAA1522_ENST00000401073.2_Silent_p.P257P|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	198										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCATCCCCACAGTGGACG	0.721																																						uc001bvv.2		NA																	0					0						c.(592-594)CCC>CCT		hypothetical protein LOC57648							15.0	17.0	16.0					1																	33235551		1938	4118	6056	SO:0001819	synonymous_variant	57648							g.chr1:33235551C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.594C>T	1.37:g.33235551C>T						KIAA1522_uc001bvu.1_Silent_p.P257P|KIAA1522_uc010ohm.1_Silent_p.P209P|KIAA1522_uc010ohn.1_Intron	p.P198P	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	730	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	198					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.594C>T	CCDS55588.1																																																																																				0.721	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			13	14	0	0	0	0	13	14				
NSUN4	387338	broad.mit.edu	37	1	46810800	46810800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:46810800C>T	ENST00000474844.1	+	2	1071	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C|NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	141					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGATATCAGTCGCTTCCCTCC	0.567																																						uc001cpr.1		NA																	0					0						c.(421-423)CGC>TGC		NOL1/NOP2/Sun domain family 4 protein							49.0	51.0	50.0					1																	46810800		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46810800C>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.421C>T	1.37:g.46810800C>T	ENSP00000419740:p.Arg141Cys					NSUN4_uc010omc.1_Missense_Mutation_p.R92C|NSUN4_uc009vyf.1_Silent_p.V41V|NSUN4_uc009vyg.1_Missense_Mutation_p.R92C|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_Intron	p.R141C	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN			2	530	+	Acute lymphoblastic leukemia(166;0.155)		141					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.421C>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951744	0.34471	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.16897	2.31;2.33;2.33	5.35	3.49	0.39957	.	0.091114	0.85682	N	0.000000	T	0.27454	0.0674	M	0.90759	3.145	0.58432	D	0.999999	B	0.26708	0.157	B	0.30782	0.12	T	0.06162	-1.0842	10	0.72032	D	0.01	-2.1664	7.227	0.26020	0.1374:0.7137:0.0:0.1489	.	141	Q96CB9	NSUN4_HUMAN	C	141;92;92	ENSP00000419740:R141C;ENSP00000438912:R92C;ENSP00000437758:R92C	ENSP00000419740:R141C	R	+	1	0	NSUN4	46583387	0.247000	0.23920	1.000000	0.80357	0.579000	0.36224	0.384000	0.20668	0.657000	0.30906	0.563000	0.77884	CGC		0.567	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		16	55	0	0	0	0	16	55				
EPHX4	253152	broad.mit.edu	37	1	92495663	92495663	+	Silent	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:92495663C>G	ENST00000370383.4	+	1	125	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	9						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATTGCCTGCCCCGCCTGATGC	0.701																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2		NA																	0				central_nervous_system(1)	1						c.(25-27)CCC>CCG		abhydrolase domain containing 7							28.0	18.0	22.0					1																	92495663		2202	4298	6500	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92495663C>G	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.27C>G	1.37:g.92495663C>G							p.P9P	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			1	131	+			9					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.27C>G	CCDS736.1																																																																																				0.701	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		9	7	0	0	0	0	9	7				
NOTCH2	4853	broad.mit.edu	37	1	120467945	120467945	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:120467945C>T	ENST00000256646.2	-	25	4713	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1498	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCTGTTCCCCTGGCATT	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4492-4494)GGG>GGA		notch 2 preproprotein							230.0	193.0	205.0					1																	120467945		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120467945C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4494G>A	1.37:g.120467945C>T							p.G1498G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4750	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1498			Negative regulatory region (NRR).|LNR 2.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.4494G>A	CCDS908.1																																																																																				0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		27	466	0	0	0	0	27	466				
PLEKHO1	51177	broad.mit.edu	37	1	150128284	150128284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:150128284G>T	ENST00000369124.4	+	3	480	c.202G>T	c.(202-204)Gag>Tag	p.E68*	PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	68	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATATTCAAGAGGTATTTGA	0.438																																						uc001ett.2		NA																	0				lung(1)	1						c.(202-204)GAG>TAG		pleckstrin homology domain containing, family O							109.0	116.0	114.0					1																	150128284		2203	4300	6503	SO:0001587	stop_gained	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150128284G>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.202G>T	1.37:g.150128284G>T	ENSP00000358120:p.Glu68*					PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	p.E68*	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	480	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		68			PH.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Nonsense_Mutation	SNP	ENST00000369124.4	37	c.202G>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	38	7.167565	0.98111	.	.	ENSG00000023902	ENST00000025469;ENST00000369124	.	.	.	4.4	4.4	0.53042	.	0.054461	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-25.3477	16.1611	0.81712	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000025469:E68X	E	+	1	0	PLEKHO1	148394908	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.212000	0.95126	2.276000	0.75962	0.609000	0.83330	GAG		0.438	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		9	236	1	0	0.000673444	0.000705593	9	236				
FLG	2312	broad.mit.edu	37	1	152281214	152281214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:152281214G>T	ENST00000368799.1	-	3	6183	c.6148C>A	c.(6148-6150)Cat>Aat	p.H2050N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2050	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)			TCTTCTGAATGTCCCTCACTG	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6148-6150)CAT>AAT		filaggrin							474.0	395.0	422.0					1																	152281214		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.chr1:152281214G>T	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.6148C>A	1.37:g.152281214G>T	ENSP00000357789:p.His2050Asn						p.H2050N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6184	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2050			Ser-rich.|Filaggrin 12.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6148C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	7.395	0.631507	0.14322	.	.	ENSG00000143631	ENST00000368799	T	0.09817	2.94	3.35	3.35	0.38373	.	.	.	.	.	T	0.11367	0.0277	M	0.66939	2.045	0.09310	N	1	D	0.56287	0.975	P	0.56823	0.807	T	0.11891	-1.0569	9	0.23891	T	0.37	-6.6657	10.4532	0.44535	0.0:0.0:1.0:0.0	.	2050	P20930	FILA_HUMAN	N	2050	ENSP00000357789:H2050N	ENSP00000357789:H2050N	H	-	1	0	FLG	150547838	0.000000	0.05858	0.021000	0.16686	0.012000	0.07955	0.201000	0.17276	1.872000	0.54250	0.485000	0.47835	CAT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		30	859	1	0	1.08e-15	1.24e-15	30	859				
RUSC1	23623	broad.mit.edu	37	1	155292476	155292476	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:155292476C>T	ENST00000368352.5	+	2	1063	c.912C>T	c.(910-912)agC>agT	p.S304S	RUSC1_ENST00000368354.3_Silent_p.S304S|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	304					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGACGTCAGCGAGGAGCCGG	0.557																																						uc001fkj.2		NA																	0				ovary(2)	2						c.(910-912)AGC>AGT		RUN and SH3 domain containing 1 isoform a							78.0	83.0	82.0					1																	155292476		1980	4148	6128	SO:0001819	synonymous_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292476C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.912C>T	1.37:g.155292476C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Silent_p.S304S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	p.S304S	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1141	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		304					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.912C>T	CCDS41410.1																																																																																				0.557	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			35	117	0	0	0	0	35	117				
CD247	919	broad.mit.edu	37	1	167400951	167400951	+	Silent	SNP	G	G	A	rs181656780		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:167400951G>A	ENST00000362089.5	-	8	534	c.462C>T	c.(460-462)gaC>gaT	p.D154D	CD247_ENST00000392122.3_Silent_p.D153D|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	154	ITAM 3. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	TGTGAAGGGCGTCGTAGGTGT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.0				Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NA																	0					0						c.(460-462)GAC>GAT		T-cell receptor zeta chain isoform 1 precursor		G	,	1,4405	2.1+/-5.4	0,1,2202	181.0	165.0	170.0		459,462	-9.4	0.3	1		170	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CD247	NM_000734.3,NM_198053.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	153/164,154/165	167400951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167400951G>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.462C>T	1.37:g.167400951G>A						CD247_uc001gej.3_Silent_p.D153D	p.D154D	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		8	607	-			154			ITAM 3.|Cytoplasmic (Potential).		B1AK49|Q5VX13|Q8TAX4	Silent	SNP	ENST00000362089.5	37	c.462C>T	CCDS1261.1																																																																																				0.562	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		8	211	0	0	0	0	8	211				
SERPINC1	462	broad.mit.edu	37	1	173881055	173881055	+	Missense_Mutation	SNP	G	G	T	rs483352851		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:173881055G>T	ENST00000367698.3	-	3	624	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	169					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TAACTTGGAGGATTTGTTGGC	0.423																																						uc001gjt.2		NA																	0				ovary(1)	1						c.(505-507)TCC>TAC		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						225.0	204.0	211.0					1																	173881055		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881055G>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.506C>A	1.37:g.173881055G>T	ENSP00000356671:p.Ser169Tyr						p.S169Y	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	625	-			169					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.506C>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856598	0.91355	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.83335	-1.71	5.66	5.66	0.87406	Serpin domain (3);	0.099811	0.64402	D	0.000001	D	0.90662	0.7071	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.90867	0.4743	10	0.66056	D	0.02	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	169	P01008	ANT3_HUMAN	Y	169	ENSP00000356671:S169Y	ENSP00000307953:S169Y	S	-	2	0	SERPINC1	172147678	1.000000	0.71417	0.517000	0.27799	0.994000	0.84299	7.540000	0.82074	2.669000	0.90835	0.591000	0.81541	TCC		0.423	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		18	186	1	0	7.08e-05	7.51e-05	18	186				
PRG4	10216	broad.mit.edu	37	1	186275519	186275519	+	Missense_Mutation	SNP	G	G	C	rs28698702		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:186275519G>C	ENST00000445192.2	+	7	713	c.668G>C	c.(667-669)gGa>gCa	p.G223A	PRG4_ENST00000367486.3_Missense_Mutation_p.G180A|PRG4_ENST00000367484.3_Missense_Mutation_p.G182A|PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367483.4_Missense_Mutation_p.G182A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	223					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GATGAAGCTGGAAGTGGATTG	0.393																																						uc001gru.3		NA																	0				skin(1)	1						c.(667-669)GGA>GCA		proteoglycan 4 isoform A							196.0	192.0	193.0					1																	186275519		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275519G>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.668G>C	1.37:g.186275519G>C	ENSP00000399679:p.Gly223Ala					PRG4_uc001grt.3_Missense_Mutation_p.G182A|PRG4_uc009wyl.2_Missense_Mutation_p.G130A|PRG4_uc009wym.2_Missense_Mutation_p.G89A|PRG4_uc010poo.1_RNA	p.G223A	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	719	+			223					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.668G>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226477	0.22542	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.50001	2.68;3.41;0.76;3.31;3.17;3.13	3.97	3.97	0.46021	.	0.162237	0.28996	U	0.013467	T	0.56001	0.1956	M	0.64997	1.995	0.22787	N	0.998738	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.66602	0.945;0.945;0.882;0.945	T	0.51687	-0.8674	10	0.02654	T	1	-3.8751	11.8988	0.52671	0.0:0.0:1.0:0.0	rs28698702	89;130;223;182	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	180;182;132;89;182;130;223	ENSP00000356456:G180A;ENSP00000356454:G182A;ENSP00000431330:G132A;ENSP00000356453:G182A;ENSP00000356455:G130A;ENSP00000399679:G223A	ENSP00000356452:G89A	G	+	2	0	PRG4	184542142	0.997000	0.39634	1.000000	0.80357	0.552000	0.35366	2.352000	0.44080	1.931000	0.55961	0.467000	0.42956	GGA		0.393	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		57	206	0	0	0	0	57	206				
CFH	3075	broad.mit.edu	37	1	196642255	196642255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:196642255G>T	ENST00000359637.2	+	2	268	c.206G>T	c.(205-207)gGa>gTa	p.G69V	CFH_ENST00000367429.4_Missense_Mutation_p.G69V|CFH_ENST00000439155.2_Missense_Mutation_p.G69V|CFH_ENST00000496761.1_3'UTR			P08603	CFAH_HUMAN	complement factor H	132	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAGGAAGGGAGAATGGGTT	0.363																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(205-207)GGA>GTA		complement factor H isoform a precursor							84.0	90.0	88.0					1																	196642255		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196642255G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.206G>T	1.37:g.196642255G>T	ENSP00000352658:p.Gly69Val					CFH_uc001gti.3_Missense_Mutation_p.G69V|CFH_uc009wyw.2_Missense_Mutation_p.G69V|CFH_uc009wyx.2_Missense_Mutation_p.G69V	p.G69V	NM_000186	NP_000177	P08603	CFAH_HUMAN			2	446	+			69			Sushi 1.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.206G>T		.	.	.	.	.	.	.	.	.	.	G	17.34	3.364348	0.61513	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.72615	0.13;0.13;-0.67	5.12	5.12	0.69794	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83505	0.5269	M	0.78637	2.42	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85377	0.1117	9	0.66056	D	0.02	.	14.0495	0.64727	0.0:0.0:1.0:0.0	.	69;69;69;69	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	69	ENSP00000356399:G69V;ENSP00000402656:G69V;ENSP00000352658:G69V	ENSP00000352658:G69V	G	+	2	0	CFH	194908878	1.000000	0.71417	0.118000	0.21660	0.011000	0.07611	5.064000	0.64338	2.390000	0.81377	0.561000	0.74099	GGA		0.363	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		69	44	1	0	2.73e-36	3.23e-36	69	44				
AVPR1B	553	broad.mit.edu	37	1	206224960	206224960	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:206224960C>T	ENST00000367126.4	+	1	985	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	174					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATTTTTTCCCTGCGGGAGGT	0.647																																						uc001hds.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(520-522)CTG>TTG		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						37.0	40.0	39.0					1																	206224960		2199	4285	6484	SO:0001819	synonymous_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224960C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.520C>T	1.37:g.206224960C>T							p.L174L	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	678	+			174			Extracellular (Potential).		B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	c.520C>T	CCDS30994.1																																																																																				0.647	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		14	107	0	0	0	0	14	107				
PGBD5	79605	broad.mit.edu	37	1	230468601	230468601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:230468601G>A	ENST00000525115.1	-	5	1078	c.1055C>T	c.(1054-1056)cCg>cTg	p.P352L	PGBD5_ENST00000321327.2_Missense_Mutation_p.P451L|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral component of membrane (GO:0016021)		p.P451L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCTGCACCGGGGAGTAGGC	0.627																																						uc010pwb.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1054-1056)CCG>CTG		piggyBac transposable element derived 5							157.0	132.0	141.0					1																	230468601		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230468601G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1055C>T	1.37:g.230468601G>A	ENSP00000431404:p.Pro352Leu					PGBD5_uc001htv.2_Missense_Mutation_p.P451L	p.P352L	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	5	1055	-	Breast(184;0.0397)	Prostate(94;0.167)	352					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1055C>T		.	.	.	.	.	.	.	.	.	.	-	33	5.235456	0.95240	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.20738	2.08;2.08;2.05	5.62	5.62	0.85841	.	0.048784	0.85682	D	0.000000	T	0.35537	0.0935	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67231	0.889;0.95	T	0.07888	-1.0749	10	0.59425	D	0.04	-30.9378	19.7826	0.96422	0.0:0.0:1.0:0.0	.	352;42	Q8N414;B4DM72	PGBD5_HUMAN;.	L	306;451;352	ENSP00000375733:P306L;ENSP00000322530:P451L;ENSP00000431404:P352L	ENSP00000322530:P451L	P	-	2	0	PGBD5	228535224	1.000000	0.71417	0.938000	0.37757	0.860000	0.49131	9.542000	0.98086	2.679000	0.91253	0.579000	0.79373	CCG		0.627	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		33	63	0	0	0	0	33	63				
PGBD2	267002	broad.mit.edu	37	1	249211729	249211729	+	Missense_Mutation	SNP	C	C	G	rs75935520		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:249211729C>G	ENST00000329291.5	+	3	1093	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	PGBD2_ENST00000355360.4_Missense_Mutation_p.L65V|PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	316										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGGGCACACTGTTTACCAA	0.512													t|||	1	0.000199681	0.0	0.0	5008	,	,		19457	0.001		0.0	False		,,,				2504	0.0					uc001ifh.2		NA																	0				ovary(1)	1						c.(946-948)CTG>GTG		hypothetical protein LOC267002 isoform a							99.0	100.0	100.0					1																	249211729		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211729C>G	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.946C>G	1.37:g.249211729C>G	ENSP00000331643:p.Leu316Val					PGBD2_uc001ifg.2_Missense_Mutation_p.L65V|PGBD2_uc009xhd.2_Missense_Mutation_p.L313V	p.L316V	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1093	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	316					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.946C>G	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	0.241	-1.013526	0.02095	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.16897	2.31;2.31;2.31	3.76	-3.04	0.05412	.	0.349865	0.17212	N	0.182671	T	0.11623	0.0283	N	0.25647	0.755	0.09310	N	1	P;P	0.48162	0.885;0.906	P;P	0.49085	0.465;0.6	T	0.19224	-1.0312	10	0.29301	T	0.29	-9.1857	4.4043	0.11402	0.1702:0.2891:0.0:0.5407	.	313;316	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	65;316;313	ENSP00000355424:L65V;ENSP00000331643:L316V;ENSP00000439950:L313V	ENSP00000331643:L316V	L	+	1	2	PGBD2	247178352	0.043000	0.20138	0.000000	0.03702	0.028000	0.11728	-0.514000	0.06298	-0.528000	0.06366	-0.222000	0.12452	CTG		0.512	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			82	33	0	0	0	0	82	33				
LARP4B	23185	broad.mit.edu	37	10	931622	931622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:931622G>A	ENST00000316157.3	-	1	80	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	14					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTCTGCGTCTGCGGTTCAGCC	0.512																																						uc001ifs.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(40-42)CAG>TAG		La ribonucleoprotein domain family, member 4B							122.0	106.0	112.0					10																	931622		2203	4300	6503	SO:0001587	stop_gained	23185						nucleotide binding|RNA binding	g.chr10:931622G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.40C>T	10.37:g.931622G>A	ENSP00000326128:p.Gln14*						p.Q14*	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			1	81	-			14					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	ENST00000316157.3	37	c.40C>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	38	6.669280	0.97747	.	.	ENSG00000107929	ENST00000316157;ENST00000406525;ENST00000412411	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.2134	17.8929	0.88878	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000326128:Q14X	Q	-	1	0	LARP4B	921622	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.993000	0.88291	2.494000	0.84150	0.650000	0.86243	CAG		0.512	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		26	45	0	0	0	0	26	45				
SLC39A12	221074	broad.mit.edu	37	10	18280093	18280093	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:18280093A>T	ENST00000377369.2	+	8	1556	c.1283A>T	c.(1282-1284)cAt>cTt	p.H428L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	428					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTGGTTTACATAAGCAGGAA	0.373																																						uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1282-1284)CAT>CTT		solute carrier family 39 (zinc transporter),							70.0	73.0	72.0					10																	18280093		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280093A>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1283A>T	10.37:g.18280093A>T	ENSP00000366586:p.His428Leu					SLC39A12_uc001ipn.2_Missense_Mutation_p.H428L|SLC39A12_uc001ipp.2_Missense_Mutation_p.H428L|SLC39A12_uc010qck.1_Missense_Mutation_p.H294L	p.H428L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			8	1556	+			428			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1283A>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937254	0.73557	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.88	4.75	0.60458	.	0.218680	0.47455	D	0.000235	T	0.65688	0.2715	M	0.83692	2.655	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69015	-0.5257	10	0.59425	D	0.04	-3.5164	11.9683	0.53049	0.9325:0.0:0.0675:0.0	.	428;428;428	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	428;428;428;294;348	ENSP00000366586:H428L;ENSP00000366591:H428L;ENSP00000366588:H428L;ENSP00000440445:H294L	ENSP00000366586:H428L	H	+	2	0	SLC39A12	18320099	1.000000	0.71417	0.962000	0.40283	0.940000	0.58332	5.141000	0.64814	1.075000	0.40932	0.529000	0.55759	CAT		0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		11	42	0	0	0	0	11	42				
OR13A1	79290	broad.mit.edu	37	10	45799805	45799805	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:45799805A>G	ENST00000553795.1	-	4	374	c.66T>C	c.(64-66)agT>agC	p.S22S	OR13A1_ENST00000374401.2_Silent_p.S22S|OR13A1_ENST00000536058.1_Silent_p.S22S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGTCTGGTTACTCATCATCC	0.502																																						uc001jcc.1		NA																	0					0						c.(64-66)AGT>AGC		olfactory receptor, family 13, subfamily A,							70.0	79.0	76.0					10																	45799805		2202	4300	6502	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799805A>G	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.66T>C	10.37:g.45799805A>G						OR13A1_uc001jcd.1_Silent_p.S18S	p.S22S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	375	-			22			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.66T>C	CCDS31188.1																																																																																				0.502	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		23	60	0	0	0	0	23	60				
TMEM26	219623	broad.mit.edu	37	10	63170317	63170317	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:63170317G>A	ENST00000399298.3	-	6	1238	c.870C>T	c.(868-870)gcC>gcT	p.A290A	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTTCTTCGCGGCAAAGAACA	0.507																																						uc001jlo.2		NA																	0					0						c.(868-870)GCC>GCT		transmembrane protein 26							103.0	108.0	106.0					10																	63170317		2112	4228	6340	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170317G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.870C>T	10.37:g.63170317G>A						TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	p.A290A	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			6	1239	-	Prostate(12;0.0112)		290			Helical; (Potential).		Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.870C>T	CCDS41530.1																																																																																				0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		3	46	0	0	0	0	3	46				
RTKN2	219790	broad.mit.edu	37	10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:64022543C>T	ENST00000373789.3	-	2	194	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q|RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTCTCGCATTCGAATTTCTAA	0.333																																						uc001jlw.2		NA																	0					0						c.(97-99)CGA>CAA		rhotekin 2							91.0	79.0	83.0					10																	64022543		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64022543C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.98G>A	10.37:g.64022543C>T	ENSP00000362894:p.Arg33Gln					ZNF365_uc001jly.3_Intron|RTKN2_uc001jlx.2_Missense_Mutation_p.R33Q	p.R33Q	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			2	195	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		33					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.98G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299794	0.95574	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.39997	1.2;1.05;1.32	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.63134	-0.6705	10	0.48119	T	0.1	18.0805	19.3863	0.94557	0.0:1.0:0.0:0.0	.	33;33	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	Q	33	ENSP00000378682:R33Q;ENSP00000362894:R33Q;ENSP00000378678:R33Q	ENSP00000362894:R33Q	R	-	2	0	RTKN2	63692549	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.151000	0.64875	2.739000	0.93911	0.655000	0.94253	CGA		0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	26	0	0	0	0	7	26				
CDH23	64072	broad.mit.edu	37	10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A	rs368828743	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:73545397G>A	ENST00000224721.6	+	43	5742	c.5737G>A	c.(5737-5739)Gtc>Atc	p.V1913I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1908	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACAGGGATCGTCACTGTGAA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		20830	0.002		0.0	False		,,,				2504	0.0					uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(5722-5724)GTC>ATC		cadherin-like 23 isoform 1 precursor							41.0	48.0	46.0					10																	73545397		2103	4213	6316	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73545397G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5737G>A	10.37:g.73545397G>A	ENSP00000224721:p.Val1913Ile						p.V1908I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			42	6099	+			1908		V -> I.	Cadherin 18.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5722G>A		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601360	0.28534	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	-0.778	0.10977	Cadherin (4);Cadherin-like (1);	0.397421	0.25060	N	0.033452	T	0.21186	0.0510	N	0.02266	-0.62	0.80722	D	1	B	0.18461	0.028	B	0.24006	0.05	T	0.36504	-0.9745	9	0.02654	T	1	.	12.3907	0.55356	0.4743:0.0:0.5257:0.0	.	1908	Q9H251	CAD23_HUMAN	I	1913;1908;1911	.	ENSP00000224721:V1913I	V	+	1	0	CDH23	73215403	0.405000	0.25336	0.957000	0.39632	0.961000	0.63080	0.674000	0.25218	-0.049000	0.13379	-0.380000	0.06706	GTC		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	4	0	0	0	0	3	4				
C10orf12	26148	broad.mit.edu	37	10	98742657	98742657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:98742657G>A	ENST00000286067.2	+	1	1617	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	504										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398																																						uc001kmv.2		NA																	0				skin(2)	2						c.(1510-1512)GAT>AAT		hypothetical protein LOC26148							62.0	67.0	65.0					10																	98742657		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98742657G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1510G>A	10.37:g.98742657G>A	ENSP00000286067:p.Asp504Asn						p.D504N	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1617	+		Colorectal(252;0.172)	504					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1510G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059860	0.93846	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.23348	1.91	5.82	5.82	0.92795	.	0.957343	0.08557	N	0.928077	T	0.47637	0.1456	L	0.34521	1.04	0.47862	D	0.999534	D	0.89917	1.0	D	0.97110	1.0	T	0.36962	-0.9726	10	0.62326	D	0.03	-14.1062	20.0925	0.97824	0.0:0.0:1.0:0.0	.	504	Q8N655	CJ012_HUMAN	N	504;338	ENSP00000286067:D504N	ENSP00000286067:D504N	D	+	1	0	C10orf12	98732647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.765000	0.95021	0.561000	0.74099	GAT		0.398	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		32	62	0	0	0	0	32	62				
HOGA1	112817	broad.mit.edu	37	10	99371333	99371333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:99371333C>T	ENST00000370646.4	+	7	1262	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	HOGA1_ENST00000370647.4_Missense_Mutation_p.P138S|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	301					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTATGGAGGCCCCTGCCGCGC	0.612																																						uc001kny.2		NA																	0					0						c.(901-903)CCC>TCC		DHDPS-like protein isoform 1							46.0	50.0	48.0					10																	99371333		2203	4300	6503	SO:0001583	missense	112817				glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity	g.chr10:99371333C>T	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.901C>T	10.37:g.99371333C>T	ENSP00000359680:p.Pro301Ser					DHDPSL_uc001knz.2_Missense_Mutation_p.P138S|PI4K2A_uc010qoy.1_Intron	p.P301S	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN			7	1260	+			301					A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.901C>T	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939823	0.18281	.	.	ENSG00000241935	ENST00000370647;ENST00000370646	D;D	0.95035	-3.59;-3.59	5.06	5.06	0.68205	Aldolase-type TIM barrel (1);	0.332562	0.33005	N	0.005381	D	0.89567	0.6752	L	0.37507	1.11	0.28332	N	0.921726	B;B	0.26363	0.147;0.022	B;B	0.23574	0.047;0.016	T	0.78523	-0.2171	10	0.12766	T	0.61	-21.3308	13.0532	0.58966	0.1611:0.8389:0.0:0.0	.	138;301	Q86XE5-3;Q86XE5	.;HOGA1_HUMAN	S	138;301	ENSP00000359681:P138S;ENSP00000359680:P301S	ENSP00000359680:P301S	P	+	1	0	HOGA1	99361323	0.987000	0.35691	1.000000	0.80357	0.976000	0.68499	2.249000	0.43169	2.364000	0.80123	0.561000	0.74099	CCC		0.612	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		17	31	0	0	0	0	17	31				
CHST15	51363	broad.mit.edu	37	10	125771991	125771991	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:125771991C>G	ENST00000346248.5	-	7	1995	c.1353G>C	c.(1351-1353)agG>agC	p.R451S	CHST15_ENST00000435907.1_Missense_Mutation_p.R451S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	451					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CAACCTGGAGCCTCACCTAGG	0.493																																						uc001lhl.2		NA																	0				ovary(1)	1						c.(1351-1353)AGG>AGC		B cell RAG associated protein							96.0	84.0	88.0					10																	125771991		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125771991C>G	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1353G>C	10.37:g.125771991C>G	ENSP00000333947:p.Arg451Ser					CHST15_uc001lhm.2_Missense_Mutation_p.R451S|CHST15_uc001lhn.2_Missense_Mutation_p.R451S	p.R451S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			6	1866	-			451			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1353G>C	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139242	0.77775	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	T;T	0.54866	0.55;0.55	4.86	3.93	0.45458	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67007	-0.5779	10	0.45353	T	0.12	-35.991	13.9979	0.64414	0.0:0.9224:0.0:0.0776	.	451	Q7LFX5	CHSTF_HUMAN	S	451	ENSP00000333947:R451S;ENSP00000402394:R451S	ENSP00000333947:R451S	R	-	3	2	CHST15	125761981	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.484000	0.45242	2.402000	0.81655	0.655000	0.94253	AGG		0.493	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		8	18	0	0	0	0	8	18				
OR51I1	390063	broad.mit.edu	37	11	5462252	5462252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5462252C>T	ENST00000380211.1	-	1	492	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	165					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCGTTTCACCACAAAAGGG	0.458																																						uc010qze.1		NA																	0				ovary(1)	1						c.(493-495)GTG>ATG		olfactory receptor, family 51, subfamily I,							102.0	86.0	92.0					11																	5462252		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462252C>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.493G>A	11.37:g.5462252C>T	ENSP00000369559:p.Val165Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V165M	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	493	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	165			Extracellular (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.493G>A	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828238	0.50845	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00940	5.52	5.47	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.277746	0.25285	N	0.031765	T	0.01489	0.0048	L	0.38692	1.165	0.21325	N	0.999721	P	0.51147	0.942	P	0.55222	0.771	T	0.49570	-0.8926	10	0.87932	D	0	.	2.9644	0.05903	0.1322:0.352:0.3636:0.1521	.	165	Q9H343	O51I1_HUMAN	M	150;162;165	ENSP00000369559:V165M	ENSP00000348350:V150M	V	-	1	0	OR51I1	5418828	0.000000	0.05858	0.984000	0.44739	0.805000	0.45488	-1.283000	0.02796	0.646000	0.30693	0.551000	0.68910	GTG		0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		3	49	0	0	0	0	3	49				
OR52N1	79473	broad.mit.edu	37	11	5809550	5809550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5809550T>C	ENST00000317078.1	-	1	496	c.497A>G	c.(496-498)aAg>aGg	p.K166R	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGAAGGCGCTTGGTGAGGAA	0.488																																						uc010qzo.1		NA																	0				skin(1)	1						c.(496-498)AAG>AGG		olfactory receptor, family 52, subfamily N,							135.0	114.0	121.0					11																	5809550		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809550T>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.497A>G	11.37:g.5809550T>C	ENSP00000322823:p.Lys166Arg					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.K166R	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	497	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	166			Extracellular (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.497A>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150546	0.21371	.	.	ENSG00000181001	ENST00000317078	T	0.00091	8.74	4.59	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.00178	0.0005	L	0.60455	1.87	0.21719	N	0.999572	P	0.36125	0.538	P	0.46975	0.533	T	0.08249	-1.0731	10	0.14656	T	0.56	.	3.2964	0.06968	0.1704:0.1849:0.0:0.6447	.	166	Q8NH53	O52N1_HUMAN	R	166	ENSP00000322823:K166R	ENSP00000322823:K166R	K	-	2	0	OR52N1	5766126	0.000000	0.05858	0.994000	0.49952	0.238000	0.25445	-0.760000	0.04756	0.880000	0.35969	0.496000	0.49642	AAG		0.488	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		15	32	0	0	0	0	15	32				
DKK3	27122	broad.mit.edu	37	11	12030045	12030045	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:12030045A>T	ENST00000396505.2	-	2	323	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	29	O-glycosylated at one site.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACTGGAGCCGAGGTCGCCGTC	0.716																																						uc001mju.2		NA																	0				breast(1)	1						c.(85-87)TCG>ACG		dickkopf homolog 3 precursor							17.0	18.0	18.0					11																	12030045		2197	4294	6491	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12030045A>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.85T>A	11.37:g.12030045A>T	ENSP00000379762:p.Ser29Thr					DKK3_uc010rcf.1_Missense_Mutation_p.S29T|DKK3_uc001mjv.2_Missense_Mutation_p.S29T|DKK3_uc001mjw.2_Missense_Mutation_p.S29T|DKK3_uc010rcg.1_Missense_Mutation_p.S29T|DKK3_uc001mjx.2_Missense_Mutation_p.S29T	p.S29T	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	1	142	-			29			O-glycosylated at one site.		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.85T>A	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027876	0.35797	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000525493;ENST00000450094;ENST00000533813;ENST00000534511;ENST00000529338	T;T;T;T;T;T;T	0.44482	2.26;2.26;2.25;1.52;1.95;0.94;0.92	4.96	2.59	0.31030	.	0.552015	0.18293	N	0.145657	T	0.22781	0.0550	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.33238	0.403;0.281;0.308;0.281	B;B;B;B	0.26969	0.075;0.034;0.032;0.034	T	0.09465	-1.0673	10	0.35671	T	0.21	.	6.1674	0.20398	0.7255:0.0:0.2745:0.0	.	29;29;29;29	F6SYF8;E7EUD0;B4DI69;Q9UBP4	.;.;.;DKK3_HUMAN	T	29	ENSP00000379762:S29T;ENSP00000314910:S29T;ENSP00000433112:S29T;ENSP00000398365:S29T;ENSP00000435269:S29T;ENSP00000436645:S29T;ENSP00000431604:S29T	ENSP00000314910:S29T	S	-	1	0	DKK3	11986621	.	.	0.116000	0.21606	0.205000	0.24178	.	.	0.760000	0.33108	0.454000	0.30748	TCG		0.716	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		3	13	0	0	0	0	3	13				
COPB1	1315	broad.mit.edu	37	11	14504607	14504607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:14504607C>G	ENST00000249923.3	-	8	1228	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	310					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCAGGATGCTCTTTTAATTCT	0.333																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(928-930)GAG>CAG		coatomer protein complex, subunit beta 1							79.0	75.0	76.0					11																	14504607		2199	4294	6493	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14504607C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.928G>C	11.37:g.14504607C>G	ENSP00000249923:p.Glu310Gln					COPB1_uc001mlg.2_Missense_Mutation_p.E310Q|COPB1_uc001mlh.2_Missense_Mutation_p.E310Q	p.E310Q	NM_016451	NP_057535	P53618	COPB_HUMAN			8	1235	-			310			HEAT 4.		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.928G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140814	0.56936	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.26518	1.73;1.73;1.73	5.56	5.56	0.83823	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.141330	0.64402	D	0.000006	T	0.22627	0.0546	L	0.31926	0.97	0.80722	D	1	B	0.25235	0.121	B	0.28553	0.091	T	0.06058	-1.0848	10	0.09590	T	0.72	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	310	P53618	COPB_HUMAN	Q	310	ENSP00000249923:E310Q;ENSP00000397873:E310Q;ENSP00000436383:E310Q	ENSP00000249923:E310Q	E	-	1	0	COPB1	14461183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.796000	0.85898	2.621000	0.88768	0.591000	0.81541	GAG		0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		27	5	0	0	0	0	27	5				
EXT2	2132	broad.mit.edu	37	11	44146485	44146485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:44146485G>A	ENST00000343631.3	+	5	1019	c.890G>A	c.(889-891)cGt>cAt	p.R297H	EXT2_ENST00000395673.3_Missense_Mutation_p.R330H|EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000533608.1_Missense_Mutation_p.R297H			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	297					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTTCTGTCCGTAAGCGCTGC	0.502			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(889-891)CGT>CAT		exostosin 2 isoform 2							92.0	83.0	86.0					11																	44146485		2203	4299	6502	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146485G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.890G>A	11.37:g.44146485G>A	ENSP00000342656:p.Arg297His					EXT2_uc010rfo.1_Missense_Mutation_p.R325H|EXT2_uc001mxy.2_Missense_Mutation_p.R310H|EXT2_uc009ykt.2_Missense_Mutation_p.R297H|EXT2_uc001mya.2_Missense_Mutation_p.R330H	p.R297H	NM_207122	NP_997005	Q93063	EXT2_HUMAN			5	1224	+			297			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.890G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139136	0.56936	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.94966	-3.56;-3.56;-3.57;-3.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	M	0.66939	2.045	0.80722	D	1	D;B;B;D;D	0.89917	1.0;0.337;0.289;0.998;0.998	D;B;B;P;P	0.66602	0.945;0.087;0.082;0.885;0.885	D	0.95653	0.8708	10	0.40728	T	0.16	-0.6981	20.0825	0.97783	0.0:0.0:1.0:0.0	.	297;297;297;297;310	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	H	297;297;330;297	ENSP00000431173:R297H;ENSP00000351509:R297H;ENSP00000379032:R330H;ENSP00000342656:R297H	ENSP00000342656:R297H	R	+	2	0	EXT2	44103061	1.000000	0.71417	0.024000	0.17045	0.457000	0.32468	6.209000	0.72171	2.746000	0.94184	0.655000	0.94253	CGT		0.502	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		19	75	0	0	0	0	19	75				
NXF1	10482	broad.mit.edu	37	11	62571396	62571396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:62571396G>A	ENST00000532297.1	-	3	712	c.83C>T	c.(82-84)cCc>cTc	p.P28L	NXF1_ENST00000531709.2_Missense_Mutation_p.P28L|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L|NXF1_ENST00000439713.2_Missense_Mutation_p.P28L|NXF1_ENST00000531131.1_Intron			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	28	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACCGGAAGGGACCCCGGCC	0.473																																						uc001nvf.1		NA																	0				skin(3)	3						c.(82-84)CCC>CTC		nuclear RNA export factor 1 isoform 1							148.0	153.0	151.0					11																	62571396		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62571396G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.83C>T	11.37:g.62571396G>A	ENSP00000436679:p.Pro28Leu					NXF1_uc001nvg.1_Missense_Mutation_p.P28L|NXF1_uc009yog.1_Missense_Mutation_p.P71L|NXF1_uc010rmh.1_Intron	p.P28L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			2	219	-			28			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.83C>T	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898793	0.52227	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.46063	0.97;0.97;0.93;0.88	4.82	4.82	0.62117	.	0.210998	0.41396	D	0.000887	T	0.44095	0.1277	L	0.52573	1.65	0.58432	D	0.999995	P;P;D	0.59767	0.728;0.818;0.986	B;B;P	0.48873	0.095;0.299;0.593	T	0.20174	-1.0283	10	0.19147	T	0.46	-15.571	15.4751	0.75471	0.0:0.0:1.0:0.0	.	71;41;28	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	L	28;28;71;28	ENSP00000294172:P28L;ENSP00000436679:P28L;ENSP00000435742:P71L;ENSP00000408864:P28L	ENSP00000294172:P28L	P	-	2	0	NXF1	62327972	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.540000	0.67205	2.503000	0.84419	0.655000	0.94253	CCC		0.473	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		96	183	0	0	0	0	96	183				
RASGRP2	10235	broad.mit.edu	37	11	64510284	64510284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:64510284C>T	ENST00000354024.3	-	2	307	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	RASGRP2_ENST00000377497.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394428.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377489.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377494.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377486.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000377487.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394429.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394430.1_Missense_Mutation_p.G19R	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	19	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGATGCACCCGCGGAGCAGC	0.731																																						uc009ypu.2		NA																	0					0						c.(55-57)GGG>AGG		RAS guanyl releasing protein 2							35.0	32.0	33.0					11																	64510284		2200	4297	6497	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64510284C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.55G>A	11.37:g.64510284C>T	ENSP00000338864:p.Gly19Arg					RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.G19R|RASGRP2_uc009ypw.2_Missense_Mutation_p.G19R|RASGRP2_uc001oaw.1_Silent_p.A321A	p.G19R	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			2	282	-			19			N-terminal Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.55G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616517	0.66672	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000394429;ENST00000394428;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594;ENST00000377485;ENST00000430645	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.2	4.23	0.50019	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.490853	0.21827	N	0.068536	T	0.28665	0.0710	N	0.02539	-0.55	0.38691	D	0.952768	B	0.28605	0.217	B	0.19391	0.025	T	0.40346	-0.9568	10	0.02654	T	1	-20.3239	11.2303	0.48907	0.0:0.8149:0.1851:0.0	.	19	Q7LDG7	GRP2_HUMAN	R	19	ENSP00000366714:G19R;ENSP00000377953:G19R;ENSP00000366717:G19R;ENSP00000338864:G19R;ENSP00000399114:G19R;ENSP00000377950:G19R;ENSP00000377949:G19R;ENSP00000366706:G19R;ENSP00000366707:G19R;ENSP00000366709:G19R;ENSP00000377951:G19R;ENSP00000366705:G19R;ENSP00000401314:G19R	ENSP00000338864:G19R	G	-	1	0	RASGRP2	64266860	0.897000	0.30589	1.000000	0.80357	0.991000	0.79684	2.559000	0.45888	2.599000	0.87857	0.462000	0.41574	GGG		0.731	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		3	9	0	0	0	0	3	9				
RCE1	9986	broad.mit.edu	37	11	66612403	66612403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:66612403C>T	ENST00000309657.3	+	5	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RCE1_ENST00000525356.1_Missense_Mutation_p.P49L|RCE1_ENST00000524506.1_Missense_Mutation_p.P172L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	172					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGATCGCCCCGCTGACAGAG	0.632																																						uc001ojk.1		NA																	0				ovary(1)|breast(1)	2						c.(514-516)CCG>CTG		prenyl protein peptidase RCE1 isoform 1							37.0	36.0	37.0					11																	66612403		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612403C>T	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.515C>T	11.37:g.66612403C>T	ENSP00000309163:p.Pro172Leu					RCE1_uc001ojl.1_Missense_Mutation_p.P68L	p.P172L	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN			5	559	+			172					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.515C>T	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462786	0.84425	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90416	0.4413	9	0.87932	D	0	-28.1701	14.627	0.68629	0.0:1.0:0.0:0.0	.	172	Q9Y256	FACE2_HUMAN	L	172;172;49	.	ENSP00000309163:P172L	P	+	2	0	RCE1	66368979	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	6.726000	0.74758	2.382000	0.81193	0.561000	0.74099	CCG		0.632	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		21	10	0	0	0	0	21	10				
B3GNT6	192134	broad.mit.edu	37	11	76750656	76750656	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:76750656G>A	ENST00000533140.1	+	2	199	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCTGGTGGGCGTGAGTTTCTT	0.657											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oxw.2		NA																	0					0						c.(61-63)GTG>ATG		UDP-GlcNAc:betaGal							80.0	83.0	82.0					11																	76750656		2008	4167	6175	SO:0001583	missense	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76750656G>A	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.61G>A	11.37:g.76750656G>A	ENSP00000435352:p.Val21Met		OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.V21M	NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN			2	149	+			21			Helical; Signal-anchor for type II membrane protein; (Potential).		Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	c.61G>A	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281493	0.59758	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000528622;ENST00000421061	T;T;T	0.30448	1.53;1.54;2.51	2.92	-5.85	0.02311	.	2.505940	0.01784	U	0.031884	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.25486	0.127	B	0.19946	0.027	T	0.08046	-1.0741	10	0.56958	D	0.05	.	1.5313	0.02536	0.3137:0.281:0.2879:0.1175	.	21	Q6ZMB0	B3GN6_HUMAN	M	21	ENSP00000435352:V21M;ENSP00000346256:V21M;ENSP00000403463:V21M	ENSP00000346256:V21M	V	+	1	0	B3GNT6	76428304	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	-1.265000	0.02844	-2.063000	0.00890	-0.367000	0.07326	GTG		0.657	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		78	37	0	0	0	0	78	37				
C1S	716	broad.mit.edu	37	12	7169971	7169971	+	Silent	SNP	G	G	A	rs377512624		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7169971G>A	ENST00000406697.1	+	6	826	c.198G>A	c.(196-198)gcG>gcA	p.A66A	C1S_ENST00000328916.3_Silent_p.A66A|C1S_ENST00000360817.5_Silent_p.A66A|C1S_ENST00000402681.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent	66	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGAACTGTGCGTATGACTCAG	0.468																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NA																	0				skin(1)	1						c.(196-198)GCG>GCA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	G	,	0,4406		0,0,2203	130.0	118.0	122.0		198,198	-11.5	0.0	12		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C1S	NM_001734.3,NM_201442.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	66/689,66/689	7169971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7169971G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.198G>A	12.37:g.7169971G>A						C1S_uc001qsk.2_Silent_p.A66A|C1S_uc001qsl.2_Silent_p.A66A|C1S_uc009zfr.2_Intron|C1S_uc009zfs.2_RNA	p.A66A	NM_201442	NP_958850	P09871	C1S_HUMAN			6	917	+			66			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.198G>A	CCDS31735.1																																																																																				0.468	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		37	151	0	0	0	0	37	151				
CLSTN3	9746	broad.mit.edu	37	12	7302138	7302138	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7302138G>T	ENST00000266546.6	+	14	2544	c.2094G>T	c.(2092-2094)tcG>tcT	p.S698S	CLSTN3_ENST00000537408.1_Silent_p.S710S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	698					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGCATGTCGGATGAGATTG	0.577																																						uc001qsr.2		NA																	0				large_intestine(1)	1						c.(2092-2094)TCG>TCT		calsyntenin 3 precursor							85.0	76.0	79.0					12																	7302138		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302138G>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2094G>T	12.37:g.7302138G>T						CLSTN3_uc001qss.2_Silent_p.S710S	p.S698S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			14	2372	+			698			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.2094G>T	CCDS8575.1																																																																																				0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		36	54	1	0	9.92e-30	1.17e-29	36	54				
MFAP5	8076	broad.mit.edu	37	12	8800752	8800752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:8800752G>A	ENST00000359478.2	-	10	644	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.R153C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TAATTGGAGCGACGGAGTCTC	0.458																																						uc001qut.1		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(1)	1						c.(457-459)CGC>TGC		microfibrillar associated protein 5 precursor							78.0	76.0	77.0					12																	8800752		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8800752G>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.457C>T	12.37:g.8800752G>A	ENSP00000352455:p.Arg153Cys					MFAP5_uc001qus.2_Missense_Mutation_p.R143C|MFAP5_uc009zge.1_Missense_Mutation_p.R128C	p.R153C	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			10	670	-	Lung SC(5;0.184)		153					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.457C>T	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855999	0.71834	.	.	ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087	.	.	.	4.79	3.88	0.44766	.	0.157344	0.45126	D	0.000397	T	0.64193	0.2576	L	0.32530	0.975	0.43457	D	0.995656	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.66917	-0.5802	9	0.87932	D	0	-24.1146	11.1031	0.48186	0.0:0.1869:0.8131:0.0	.	128;153;143	B3KW70;Q13361;Q7Z490	.;MFAP5_HUMAN;.	C	59;153;128;143;131;89;143	.	ENSP00000352455:R153C	R	-	1	0	MFAP5	8692019	1.000000	0.71417	0.864000	0.33941	0.972000	0.66771	4.677000	0.61634	1.351000	0.45789	0.563000	0.77884	CGC		0.458	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		27	56	0	0	0	0	27	56				
CCDC184	387856	broad.mit.edu	37	12	48578417	48578417	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:48578417A>G	ENST00000316554.3	+	1	1052	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		171						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTTGGGGGGGACGGGCCACTT	0.657																																						uc001rrj.2		NA																	0				central_nervous_system(1)	1						c.(511-513)GAC>GGC		hypothetical protein LOC387856							7.0	7.0	7.0					12																	48578417		2149	4198	6347	SO:0001583	missense	387856					cytoplasm		g.chr12:48578417A>G																												ENST00000316554.3:c.512A>G	12.37:g.48578417A>G	ENSP00000320849:p.Asp171Gly						p.D171G	NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN			1	1052	+			171					Q96MK5|Q96N39	Missense_Mutation	SNP	ENST00000316554.3	37	c.512A>G	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083772	0.07141	.	.	ENSG00000177875	ENST00000316554	T	0.54479	0.57	5.22	4.05	0.47172	.	0.106567	0.41823	D	0.000803	T	0.32041	0.0816	N	0.08118	0	0.31591	N	0.653931	B	0.17038	0.02	B	0.23419	0.046	T	0.33189	-0.9878	10	0.62326	D	0.03	-14.2789	8.9247	0.35632	0.8118:0.1882:0.0:0.0	.	171	Q52MB2	CL068_HUMAN	G	171	ENSP00000320849:D171G	ENSP00000320849:D171G	D	+	2	0	C12orf68	46864684	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	2.686000	0.46968	0.970000	0.38263	0.460000	0.39030	GAC		0.657	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1			2	5	0	0	0	0	2	5				
KMT2D	8085	broad.mit.edu	37	12	49435964	49435964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49435964C>T	ENST00000301067.7	-	28	6016	c.6017G>A	c.(6016-6018)tGg>tAg	p.W2006*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2006					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATCCTTCTCCCAGCGCTGAAG	0.582																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6016-6018)TGG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							44.0	47.0	46.0					12																	49435964		2095	4208	6303	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435964C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6017G>A	12.37:g.49435964C>T	ENSP00000301067:p.Trp2006*	HNSCC(34;0.089)					p.W2006*	NM_003482	NP_003473	O14686	MLL2_HUMAN			28	6017	-			2006					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.6017G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	46	12.388725	0.99663	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.35772	N	0.002991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1988	0.89831	0.0:1.0:0.0:0.0	.	.	.	.	X	2006	.	ENSP00000301067:W2006X	W	-	2	0	MLL2	47722231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.797000	0.85911	2.686000	0.91538	0.561000	0.74099	TGG		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	3	0	0	0	0	11	3				
ATF7	11016	broad.mit.edu	37	12	53918430	53918430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:53918430C>A	ENST00000548446.2	-	10	1188	c.1076G>T	c.(1075-1077)cGc>cTc	p.R359L	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L|ATF7_ENST00000328463.7_Missense_Mutation_p.R359L|ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000420353.2_Missense_Mutation_p.R348L			P17544	ATF7_HUMAN	activating transcription factor 7	359	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Essential for binding adenovirus 2 E1A.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	TTGGCGGCAGCGGGAGGCTGC	0.607																																						uc001sdy.2		NA																	0				ovary(1)|lung(1)	2						c.(1075-1077)CGC>CTC		activating transcription factor 7 isoform 1							49.0	49.0	49.0					12																	53918430		1881	4092	5973	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53918430C>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1076G>T	12.37:g.53918430C>A	ENSP00000449938:p.Arg359Leu					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R348L|ATF7_uc010sol.1_Missense_Mutation_p.R327L	p.R359L	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			9	1097	-			359			Basic motif.|Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.1076G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.623634	0.96660	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.32	5.32	0.75619	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.76572	-0.2910	10	0.87932	D	0	-21.4762	18.3142	0.90213	0.0:1.0:0.0:0.0	.	327;348;359	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	L	359;359;172;327;348;348	ENSP00000449938:R359L;ENSP00000329212:R359L;ENSP00000404880:R327L;ENSP00000399465:R348L;ENSP00000387406:R348L	ENSP00000304187:R172L	R	-	2	0	ATF7	52204697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.941000	0.99782	0.655000	0.94253	CGC		0.607	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		33	45	1	0	3.04e-20	3.54e-20	33	45				
OR10A7	121364	broad.mit.edu	37	12	55615608	55615608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:55615608C>T	ENST00000326258.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCAAACCAGTCCCCTGAGAGC	0.507																																						uc010spf.1		NA																	0				ovary(4)	4						c.(799-801)TCC>TTC		olfactory receptor, family 10, subfamily A,							83.0	75.0	78.0					12																	55615608		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615608C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.800C>T	12.37:g.55615608C>T	ENSP00000326718:p.Ser267Phe						p.S267F	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	800	+			267			Extracellular (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.800C>T	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	13.41	2.228077	0.39399	.	.	ENSG00000179919	ENST00000326258	T	0.00277	8.34	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000965	T	0.00695	0.0023	M	0.88031	2.925	0.09310	N	1	P	0.43607	0.812	P	0.56916	0.809	T	0.11251	-1.0595	10	0.72032	D	0.01	.	15.0435	0.71811	0.0:1.0:0.0:0.0	.	267	Q8NGE5	O10A7_HUMAN	F	267	ENSP00000326718:S267F	ENSP00000326718:S267F	S	+	2	0	OR10A7	53901875	0.000000	0.05858	0.791000	0.31998	0.549000	0.35272	0.445000	0.21677	2.207000	0.71202	0.637000	0.83480	TCC		0.507	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			15	76	0	0	0	0	15	76				
DNAJC14	85406	broad.mit.edu	37	12	56221350	56221350	+	Missense_Mutation	SNP	G	G	A	rs374502377		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56221350G>A	ENST00000357606.3	-	3	1382	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	365					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGAGAAGAGCCAGGTAGCC	0.567																																						uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1093-1095)CTC>TTC		dopamine receptor interacting protein		G	PHE/LEU	0,4406		0,0,2203	69.0	69.0	69.0		1093	4.3	1.0	12		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJC14	NM_032364.5	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	365/703	56221350	1,13005	2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221350G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1093C>T	12.37:g.56221350G>A	ENSP00000350223:p.Leu365Phe					DNAJC14_uc001shu.1_Missense_Mutation_p.L365F|DNAJC14_uc009zob.1_Missense_Mutation_p.L365F|DNAJC14_uc001shy.1_Missense_Mutation_p.L365F	p.L365F	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1297	-			365					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1093C>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615336	0.28801	0.0	1.16E-4	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.40225	1.04;1.04;1.04	5.2	4.3	0.51218	.	0.559533	0.17479	N	0.172806	T	0.31857	0.0810	L	0.27053	0.805	0.33025	D	0.529385	P;P	0.41748	0.761;0.761	B;B	0.41571	0.36;0.251	T	0.39981	-0.9587	9	.	.	.	-4.5617	11.4712	0.50270	0.0:0.0:0.8202:0.1798	.	365;365	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	F	365;365;75;365	ENSP00000350223:L365F;ENSP00000316240:L365F;ENSP00000317500:L365F	.	L	-	1	0	DNAJC14	54507617	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	3.346000	0.52190	1.315000	0.45114	0.655000	0.94253	CTC		0.567	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		22	70	0	0	0	0	22	70				
TIMELESS	8914	broad.mit.edu	37	12	56815168	56815168	+	Silent	SNP	C	C	T	rs113553695		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56815168C>T	ENST00000553532.1	-	23	2985	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	TIMELESS_ENST00000229201.4_Silent_p.K944K|TIMELESS_ENST00000554616.1_Silent_p.K442K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGCCGTTTCTTGTACAGCT	0.527																																						uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2833-2835)AAG>AAA		timeless homolog							152.0	133.0	140.0					12																	56815168		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815168C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2835G>A	12.37:g.56815168C>T							p.K945K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			23	3003	-			945						Silent	SNP	ENST00000553532.1	37	c.2835G>A	CCDS8918.1																																																																																				0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		75	66	0	0	0	0	75	66				
TMEM194A	23306	broad.mit.edu	37	12	57454716	57454716	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:57454716C>T	ENST00000300128.4	-	8	1016	c.993G>A	c.(991-993)aaG>aaA	p.K331K	TMEM194A_ENST00000379391.3_Silent_p.K258K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	331						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCTGCTCCCTTACACACCT	0.438																																						uc001smy.2		NA																	0					0						c.(991-993)AAG>AAA		transmembrane protein 194A isoform a							90.0	89.0	90.0					12																	57454716		2203	4300	6503	SO:0001819	synonymous_variant	23306					integral to membrane		g.chr12:57454716C>T	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.993G>A	12.37:g.57454716C>T						TMEM194A_uc001smx.2_Silent_p.K258K|TMEM194A_uc010sra.1_Silent_p.K72K	p.K331K	NM_001130963	NP_001124435	O14524	T194A_HUMAN			8	1039	-			331					Q17R72|Q68DH0|Q6IQ25	Silent	SNP	ENST00000300128.4	37	c.993G>A	CCDS44927.1																																																																																				0.438	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		29	76	0	0	0	0	29	76				
TMTC2	160335	broad.mit.edu	37	12	83324299	83324299	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:83324299A>G	ENST00000321196.3	+	4	2280	c.1573A>G	c.(1573-1575)Aac>Gac	p.N525D	TMTC2_ENST00000549919.1_Missense_Mutation_p.N519D|TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	525					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACCGCAGCAACATGGCTGA	0.433																																						uc001szt.2		NA																	0				ovary(2)	2						c.(1573-1575)AAC>GAC		transmembrane and tetratricopeptide repeat							160.0	134.0	143.0					12																	83324299		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83324299A>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1573A>G	12.37:g.83324299A>G	ENSP00000322300:p.Asn525Asp					TMTC2_uc001szr.1_Missense_Mutation_p.N525D|TMTC2_uc001szs.1_Missense_Mutation_p.N525D|TMTC2_uc010suk.1_Missense_Mutation_p.N280D	p.N525D	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			4	2005	+			525			TPR 2.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1573A>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693275	0.88735	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.60672	0.17;0.17;0.17	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.088589	0.85682	D	0.000000	T	0.54095	0.1837	N	0.16201	0.385	0.80722	D	1	P;B;D	0.54397	0.908;0.01;0.966	P;B;P	0.57776	0.827;0.038;0.823	T	0.50030	-0.8875	10	0.11794	T	0.64	-17.0251	16.2473	0.82450	1.0:0.0:0.0:0.0	.	525;280;525	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	D	525;525;519;280	ENSP00000322300:N525D;ENSP00000448292:N525D;ENSP00000447609:N519D	ENSP00000322300:N525D	N	+	1	0	TMTC2	81848430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.814000	0.91968	2.238000	0.73509	0.533000	0.62120	AAC		0.433	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		9	43	0	0	0	0	9	43				
FREM2	341640	broad.mit.edu	37	13	39265184	39265184	+	Missense_Mutation	SNP	C	C	A	rs151214132		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:39265184C>A	ENST00000280481.7	+	1	3919	c.3703C>A	c.(3703-3705)Cat>Aat	p.H1235N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1235					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCCCCACTCATGGTCACAT	0.428																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3703-3705)CAT>AAT		FRAS1-related extracellular matrix protein 2							229.0	223.0	225.0					13																	39265184		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265184C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3703C>A	13.37:g.39265184C>A	ENSP00000280481:p.His1235Asn						p.H1235N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4012	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1235			CSPG 8.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3703C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.924936	0.18056	.	.	ENSG00000150893	ENST00000280481	T	0.38401	1.14	6.01	6.01	0.97437	Cadherin (1);	0.046880	0.85682	D	0.000000	T	0.45994	0.1370	M	0.75264	2.295	0.80722	D	1	B	0.14438	0.01	B	0.19148	0.024	T	0.35674	-0.9779	10	0.56958	D	0.05	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	1235	Q5SZK8	FREM2_HUMAN	N	1235	ENSP00000280481:H1235N	ENSP00000280481:H1235N	H	+	1	0	FREM2	38163184	1.000000	0.71417	0.509000	0.27700	0.061000	0.15899	6.067000	0.71193	2.860000	0.98153	0.655000	0.94253	CAT		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		58	258	1	0	2.12e-23	2.48e-23	58	258				
GPC5	2262	broad.mit.edu	37	13	92380812	92380812	+	Silent	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:92380812A>T	ENST00000377067.3	+	4	1419	c.1047A>T	c.(1045-1047)gtA>gtT	p.V349V	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	349					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCGCCCTGTAAGAACACCCA	0.423																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1045-1047)GTA>GTT		glypican 5 precursor							115.0	119.0	118.0					13																	92380812		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380812A>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1047A>T	13.37:g.92380812A>T							p.V349V	NM_004466	NP_004457	P78333	GPC5_HUMAN			4	1413	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	349					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1047A>T	CCDS9468.1																																																																																				0.423	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		14	126	0	0	0	0	14	126				
UGGT2	55757	broad.mit.edu	37	13	96675306	96675306	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:96675306T>A	ENST00000376747.3	-	4	543	c.473A>T	c.(472-474)aAa>aTa	p.K158I	UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I|UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	158					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGAAGCAGCTTTCTTCAGCAG	0.323																																						uc001vmt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(472-474)AAA>ATA		UDP-glucose ceramide glucosyltransferase-like 2							72.0	76.0	75.0					13																	96675306		2203	4298	6501	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675306T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.473A>T	13.37:g.96675306T>A	ENSP00000365938:p.Lys158Ile					UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.K158I|UGGT2_uc010afp.2_Missense_Mutation_p.K158I	p.K158I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			4	643	-			158					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.473A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895755	0.52121	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.32988	3.01;1.43	5.51	5.51	0.81932	.	0.161014	0.56097	D	0.000030	T	0.55162	0.1903	M	0.76574	2.34	0.42482	D	0.992865	D;D;B	0.61697	0.99;0.99;0.167	D;D;B	0.65773	0.938;0.938;0.042	T	0.60999	-0.7151	10	0.87932	D	0	-17.5049	15.6247	0.76845	0.0:0.0:0.0:1.0	.	158;158;158	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	I	158	ENSP00000365938:K158I;ENSP00000380743:K158I	ENSP00000365902:K158I	K	-	2	0	UGGT2	95473307	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.014000	0.40951	2.090000	0.63153	0.528000	0.53228	AAA		0.323	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		22	56	0	0	0	0	22	56				
AKAP6	9472	broad.mit.edu	37	14	33293503	33293503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:33293503G>A	ENST00000280979.4	+	13	6654	c.6484G>A	c.(6484-6486)Ggt>Agt	p.G2162S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2162					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGTGTTGAGGGTGACTCTGA	0.478																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(6484-6486)GGT>AGT		A-kinase anchor protein 6							82.0	76.0	78.0					14																	33293503		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293503G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6484G>A	14.37:g.33293503G>A	ENSP00000280979:p.Gly2162Ser						p.G2162S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6654	+	Breast(36;0.0388)|Prostate(35;0.15)		2162					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6484G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394245	0.62066	.	.	ENSG00000151320	ENST00000280979	T	0.42900	0.96	6.03	5.14	0.70334	.	0.350782	0.30437	N	0.009623	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05801	-1.0863	10	0.72032	D	0.01	-2.201	15.1117	0.72362	0.0673:0.0:0.9327:0.0	.	2162	Q13023	AKAP6_HUMAN	S	2162	ENSP00000280979:G2162S	ENSP00000280979:G2162S	G	+	1	0	AKAP6	32363254	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	5.531000	0.67148	1.561000	0.49584	0.655000	0.94253	GGT		0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		30	17	0	0	0	0	30	17				
C14orf37	145407	broad.mit.edu	37	14	58471868	58471868	+	Silent	SNP	T	T	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:58471868T>G	ENST00000267485.7	-	7	2348	c.2154A>C	c.(2152-2154)gtA>gtC	p.V718V		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	718						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCCAACCCCTACAGGCACCA	0.488																																						uc001xdc.2		NA																	0					0						c.(2152-2154)GTA>GTC		hypothetical protein LOC145407 precursor							92.0	86.0	88.0					14																	58471868		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58471868T>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2154A>C	14.37:g.58471868T>G						C14orf37_uc010tro.1_Silent_p.V756V|C14orf37_uc001xdd.2_Silent_p.V718V	p.V718V	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			7	2265	-			718			Helical; (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.2154A>C	CCDS32089.1																																																																																				0.488	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		47	50	0	0	0	0	47	50				
FCF1	51077	broad.mit.edu	37	14	75182665	75182665	+	Missense_Mutation	SNP	C	C	G	rs114572906		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:75182665C>G	ENST00000341162.4	+	4	209	c.155C>G	c.(154-156)cCt>cGt	p.P52R	FCF1_ENST00000553615.1_Missense_Mutation_p.P37R|AC007956.1_ENST00000338772.5_5'Flank|AREL1_ENST00000356357.4_5'Flank|FCF1_ENST00000534938.2_Missense_Mutation_p.P40R|AREL1_ENST00000557401.1_5'Flank	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	52					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCCCAACACCCTTCCTGCTTA	0.373																																						uc001xqh.2		NA																	0				ovary(1)	1						c.(154-156)CCT>CGT		FCF1 small subunit							115.0	114.0	114.0					14																	75182665		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75182665C>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.155C>G	14.37:g.75182665C>G	ENSP00000344393:p.Pro52Arg					KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqf.1_Missense_Mutation_p.P37R|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	p.P52R	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	4	206	+			52					Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.155C>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171822	0.78452	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.44	5.44	0.79542	.	0.044993	0.85682	D	0.000000	T	0.66963	0.2843	L	0.54965	1.715	0.80722	D	1	P;P	0.42941	0.715;0.794	B;P	0.47941	0.275;0.562	T	0.60727	-0.7206	9	0.24483	T	0.36	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	52;37	Q9Y324;G3V5S9	FCF1_HUMAN;.	R	52;40;37	.	ENSP00000344393:P52R	P	+	2	0	FCF1	74252418	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.798000	0.69095	2.828000	0.97474	0.655000	0.94253	CCT		0.373	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		12	178	0	0	0	0	12	178				
KCNK13	56659	broad.mit.edu	37	14	90650616	90650616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:90650616C>T	ENST00000282146.4	+	2	937	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	166					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCGGCAGCTCCGGAGACGAGG	0.612																																						uc001xye.1		NA																	0				skin(1)	1						c.(496-498)CGG>TGG		potassium channel, subfamily K, member 13							72.0	75.0	74.0					14																	90650616		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650616C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.496C>T	14.37:g.90650616C>T	ENSP00000282146:p.Arg166Trp						p.R166W	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	938	+		all_cancers(154;0.186)	166			Cytoplasmic (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.496C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251628	0.59212	.	.	ENSG00000152315	ENST00000282146	T	0.15603	2.41	5.31	2.13	0.27403	.	0.885835	0.09184	N	0.837065	T	0.29458	0.0734	L	0.52905	1.665	0.18873	N	0.999983	D	0.69078	0.997	P	0.57244	0.816	T	0.12268	-1.0554	10	0.54805	T	0.06	.	8.9283	0.35655	0.3555:0.5403:0.1042:0.0	.	166	Q9HB14	KCNKD_HUMAN	W	166	ENSP00000282146:R166W	ENSP00000282146:R166W	R	+	1	2	KCNK13	89720369	0.004000	0.15560	0.156000	0.22583	0.758000	0.43043	1.485000	0.35519	1.214000	0.43395	0.655000	0.94253	CGG		0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		5	76	0	0	0	0	5	76				
DICER1	23405	broad.mit.edu	37	14	95584087	95584087	+	Missense_Mutation	SNP	T	T	C	rs141163928		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:95584087T>C	ENST00000526495.1	-	11	1672	c.1381A>G	c.(1381-1383)Ata>Gta	p.I461V	DICER1_ENST00000527414.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V|DICER1_ENST00000541352.1_Missense_Mutation_p.I461V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	461	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTTCCTTTATCAATCTAAGA	0.348			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1381-1383)ATA>GTA		dicer1		T	VAL/ILE,VAL/ILE,VAL/ILE	0,4406	2.1+/-5.4	0,0,2203	119.0	106.0	111.0		1381,1381,1381	5.2	1.0	14	dbSNP_134	111	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	29,29,29	0,2,6499	CC,CT,TT		0.0233,0.0,0.0154	benign,benign,benign	461/1830,461/1923,461/1923	95584087	2,13000	2203	4298	6501	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95584087T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1381A>G	14.37:g.95584087T>C	ENSP00000437256:p.Ile461Val					DICER1_uc001ydv.2_Missense_Mutation_p.I451V|DICER1_uc001ydx.2_Missense_Mutation_p.I461V	p.I461V	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1563	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	461			Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1381A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339367	0.81911	0.0	2.33E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.17	5.17	0.71159	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	N	0.17872	0.535	0.80722	D	1	P	0.44816	0.844	B	0.41466	0.358	T	0.64706	-0.6344	10	0.51188	T	0.08	-25.3601	15.3439	0.74320	0.0:0.0:0.0:1.0	.	461	Q9UPY3	DICER_HUMAN	V	461	ENSP00000343745:I461V;ENSP00000437256:I461V;ENSP00000376783:I461V;ENSP00000435681:I461V;ENSP00000444719:I461V	ENSP00000343745:I461V	I	-	1	0	DICER1	94653840	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.965000	0.87945	2.078000	0.62432	0.528000	0.53228	ATA		0.348	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			8	43	0	0	0	0	8	43				
SEMA6D	80031	broad.mit.edu	37	15	48063143	48063143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:48063143G>T	ENST00000316364.5	+	19	2822	c.2383G>T	c.(2383-2385)Gcc>Tcc	p.A795S	SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	795					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCAGAAAAGGCCCATGGCCA	0.542																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(2383-2385)GCC>TCC		semaphorin 6D isoform 4 precursor							61.0	64.0	63.0					15																	48063143		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063143G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2383G>T	15.37:g.48063143G>T	ENSP00000324857:p.Ala795Ser					SEMA6D_uc001zvw.2_Missense_Mutation_p.A733S|SEMA6D_uc001zvy.2_Missense_Mutation_p.A795S|SEMA6D_uc001zvz.2_Missense_Mutation_p.A739S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.A733S|SEMA6D_uc001zwc.2_Missense_Mutation_p.A720S	p.A795S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2743	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	795			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2383G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224600	0.06061	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17213	2.29;2.36;2.36;2.33;2.29;2.29;2.29;2.29	5.19	3.27	0.37495	.	0.896444	0.09827	N	0.750772	T	0.13286	0.0322	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.30937	0.175;0.011;0.301;0.175	B;B;B;B	0.35114	0.135;0.031;0.196;0.19	T	0.08126	-1.0737	10	0.09590	T	0.72	.	6.1736	0.20431	0.2198:0.1377:0.6424:0.0	.	720;739;795;733	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	733;795;795;776;752;739;733;720	ENSP00000442040:A733S;ENSP00000446152:A795S;ENSP00000324857:A795S;ENSP00000374084:A776S;ENSP00000374083:A752S;ENSP00000346786:A739S;ENSP00000350770:A733S;ENSP00000374079:A720S	ENSP00000324857:A795S	A	+	1	0	SEMA6D	45850435	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.701000	0.54793	0.721000	0.32231	0.655000	0.94253	GCC		0.542	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		24	53	1	0	5.45e-15	6.21e-15	24	53				
TAOK2	9344	broad.mit.edu	37	16	29993064	29993064	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:29993064G>T	ENST00000308893.4	+	9	1781	c.738G>T	c.(736-738)caG>caT	p.Q246H	TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGTGCTCCAGTCAGGACACT	0.542																																						uc002dva.1		NA																	0				ovary(1)	1						c.(736-738)CAG>CAT		TAO kinase 2 isoform 2							128.0	112.0	117.0					16																	29993064		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29993064G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.738G>T	16.37:g.29993064G>T	ENSP00000310094:p.Gln246His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Q246H|TAOK2_uc002dvc.1_Missense_Mutation_p.Q246H|TAOK2_uc010bzm.1_Missense_Mutation_p.Q246H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q73H	p.Q246H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			9	1521	+			246			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.738G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976796	0.74360	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.85556	-2.0;-2.0;-2.0	5.91	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	L	0.28115	0.83	0.58432	D	0.99999	D;D;P;P;D	0.67145	0.994;0.996;0.895;0.914;0.984	P;P;P;P;P	0.62885	0.868;0.882;0.637;0.752;0.908	T	0.83265	-0.0046	9	.	.	.	.	12.2891	0.54809	0.1428:0.0:0.8572:0.0	.	430;73;246;246;246	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	H	246	ENSP00000310094:Q246H;ENSP00000440336:Q246H;ENSP00000279394:Q246H	.	Q	+	3	2	TAOK2	29900565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.722000	0.68485	1.511000	0.48818	0.555000	0.69702	CAG		0.542	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		14	59	1	0	7.93e-07	8.61e-07	14	59				
NOS2	4843	broad.mit.edu	37	17	26114800	26114800	+	Missense_Mutation	SNP	C	C	T	rs148763708	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:26114800C>T	ENST00000313735.6	-	5	604	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	124					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCTGGTCAAACTTTTGGGAGT	0.498													C|||	2	0.000399361	0.0	0.0	5008	,	,		20215	0.0		0.002	False		,,,				2504	0.0					uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(370-372)AGT>AAT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	C	ASN/SER	0,4406		0,0,2203	147.0	153.0	151.0		371	1.2	0.9	17	dbSNP_134	151	7,8593	5.7+/-21.5	0,7,4293	yes	missense	NOS2	NM_000625.4	46	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	benign	124/1154	26114800	7,12999	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114800C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.371G>A	17.37:g.26114800C>T	ENSP00000327251:p.Ser124Asn					NOS2_uc010crh.1_Missense_Mutation_p.S124N|NOS2_uc010wab.1_Missense_Mutation_p.S124N	p.S124N	NM_000625	NP_000616	P35228	NOS2_HUMAN			5	635	-			124					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.371G>A	CCDS11223.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	1.470	-0.560129	0.03967	0.0	8.14E-4	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22539	1.95	5.64	1.17	0.20885	Nitric oxide synthase, oxygenase domain (2);	0.611706	0.17499	N	0.172078	T	0.13329	0.0323	L	0.46157	1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29701	-1.0003	10	0.15066	T	0.55	.	2.9365	0.05816	0.1349:0.4568:0.2618:0.1465	.	124;124	F8WEM3;P35228	.;NOS2_HUMAN	N	124	ENSP00000327251:S124N	ENSP00000305638:S124N	S	-	2	0	NOS2	23138927	0.050000	0.20438	0.866000	0.34008	0.285000	0.27093	0.225000	0.17757	0.329000	0.23460	-0.259000	0.10710	AGT		0.498	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		6	164	0	0	0	0	6	164				
ABCA5	23461	broad.mit.edu	37	17	67302927	67302927	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:67302927C>T	ENST00000392676.3	-	6	791	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K|ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	243					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTTCTTTTTCTGCTACGATA	0.254																																						uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(727-729)GAA>AAA		ATP-binding cassette, sub-family A , member 5							23.0	26.0	25.0					17																	67302927		2183	4283	6466	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302927C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.727G>A	17.37:g.67302927C>T	ENSP00000376443:p.Glu243Lys					ABCA5_uc002jig.2_Missense_Mutation_p.E243K|ABCA5_uc002jih.2_Missense_Mutation_p.E243K|ABCA5_uc010dfe.2_Missense_Mutation_p.E243K	p.E243K	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			5	1945	-	Breast(10;3.72e-11)		243					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.727G>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300925	0.95601	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94613	-3.47;-3.47	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000010	D	0.97695	0.9244	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98262	1.0499	9	.	.	.	.	18.5867	0.91192	0.0:1.0:0.0:0.0	.	243;243	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	K	243	ENSP00000376444:E243K;ENSP00000376443:E243K	.	E	-	1	0	ABCA5	64814522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.561000	0.73955	2.353000	0.79882	0.655000	0.94253	GAA		0.254	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	32	0	0	0	0	13	32				
FAM104A	84923	broad.mit.edu	37	17	71223343	71223343	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:71223343A>G	ENST00000403627.3	-	2	342	c.282T>C	c.(280-282)agT>agC	p.S94S	FAM104A_ENST00000405159.3_Silent_p.S94S|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	94	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTTCTGCTACTTCTTTTGG	0.408																																						uc002jji.3		NA																	0					0						c.(280-282)AGT>AGC		hypothetical protein LOC84923 isoform 2							140.0	129.0	133.0					17																	71223343		2203	4300	6503	SO:0001819	synonymous_variant	84923							g.chr17:71223343A>G	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.282T>C	17.37:g.71223343A>G						FAM104A_uc002jjj.3_Silent_p.S94S	p.S94S	NM_032837	NP_116226	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	370	-			94			Ser-rich.		B4E339	Silent	SNP	ENST00000403627.3	37	c.282T>C	CCDS11693.2																																																																																				0.408	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		20	103	0	0	0	0	20	103				
LAMA1	284217	broad.mit.edu	37	18	6943269	6943269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:6943269C>A	ENST00000389658.3	-	62	9070	c.8977G>T	c.(8977-8979)Gtt>Ttt	p.V2993F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2993	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCCCGTCAACAATCAGAGTG	0.488																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8977-8979)GTT>TTT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						317.0	241.0	267.0					18																	6943269		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943269C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8977G>T	18.37:g.6943269C>A	ENSP00000374309:p.Val2993Phe					LAMA1_uc002knk.2_Missense_Mutation_p.V323F|LAMA1_uc002knl.2_Missense_Mutation_p.V446F|LAMA1_uc010wzj.1_Missense_Mutation_p.V2469F	p.V2993F	NM_005559	NP_005550	P25391	LAMA1_HUMAN			62	9071	-		Colorectal(10;0.172)	2993			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8977G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727592	0.48833	.	.	ENSG00000101680	ENST00000389658	D	0.84589	-1.87	5.73	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.077252	0.49305	D	0.000156	D	0.93223	0.7841	M	0.91561	3.22	0.43426	D	0.995589	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	D	0.94001	0.7275	10	0.87932	D	0	.	11.5104	0.50490	0.0:0.8451:0.0:0.1549	.	2993;323	P25391;B3KSD8	LAMA1_HUMAN;.	F	2993	ENSP00000374309:V2993F	ENSP00000374309:V2993F	V	-	1	0	LAMA1	6933269	0.997000	0.39634	0.086000	0.20670	0.134000	0.20937	3.610000	0.54125	1.437000	0.47472	0.563000	0.77884	GTT		0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		99	30	1	0	1.54e-31	1.82e-31	99	30				
CDH20	28316	broad.mit.edu	37	18	59166671	59166671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:59166671G>A	ENST00000262717.4	+	3	897	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CDH20_ENST00000536675.2_Missense_Mutation_p.D167N|CDH20_ENST00000538374.1_Missense_Mutation_p.D167N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D167N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAAGTTCCTGGACGGACCTTA	0.502																																						uc010dps.1		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(499-501)GAC>AAC		cadherin 20, type 2 preproprotein							69.0	71.0	70.0					18																	59166671		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166671G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.499G>A	18.37:g.59166671G>A	ENSP00000262717:p.Asp167Asn					CDH20_uc002lif.2_Missense_Mutation_p.D161N	p.D167N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			2	511	+		Colorectal(73;0.186)	167			Extracellular (Potential).|Cadherin 2.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.499G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414668	0.83449	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.58797	0.31;0.31;0.31	6.06	5.2	0.72013	Cadherin (3);Cadherin-like (1);	0.046797	0.85682	N	0.000000	T	0.52517	0.1739	N	0.02865	-0.47	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60596	-0.7232	10	0.26408	T	0.33	.	15.128	0.72497	0.0672:0.0:0.9328:0.0	.	167	Q9HBT6	CAD20_HUMAN	N	167	ENSP00000444767:D167N;ENSP00000442226:D167N;ENSP00000262717:D167N	ENSP00000262717:D167N	D	+	1	0	CDH20	57317651	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	5.610000	0.67668	1.578000	0.49821	0.650000	0.86243	GAC		0.502	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		14	42	0	0	0	0	14	42				
KCNG2	26251	broad.mit.edu	37	18	77659522	77659522	+	Silent	SNP	C	C	T	rs3744887		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:77659522C>T	ENST00000316249.3	+	2	1107	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	369					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCATGACCACCGTGGGCTACG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		10363	0.001		0.0	False		,,,				2504	0.0					uc010xfl.1		NA																	0					0						c.(1105-1107)ACC>ACT		potassium voltage-gated channel, subfamily G,		C		0,4404		0,0,2202	39.0	37.0	38.0		1107	0.8	1.0	18	dbSNP_107	38	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	KCNG2	NM_012283.1		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		369/467	77659522	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659522C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1107C>T	18.37:g.77659522C>T							p.T369T	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1107	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	369			Selectivity filter (By similarity).			Silent	SNP	ENST00000316249.3	37	c.1107C>T	CCDS12019.1																																																																																				0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		25	15	0	0	0	0	25	15				
DOT1L	84444	broad.mit.edu	37	19	2223362	2223362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:2223362A>G	ENST00000398665.3	+	25	3509	c.3473A>G	c.(3472-3474)cAg>cGg	p.Q1158R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1158					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCTACCAGGACCACGAC	0.622																																						uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(3472-3474)CAG>CGG		DOT1-like, histone H3 methyltransferase							76.0	89.0	85.0					19																	2223362		2005	4156	6161	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2223362A>G	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3473A>G	19.37:g.2223362A>G	ENSP00000381657:p.Gln1158Arg					DOT1L_uc002lvc.1_Missense_Mutation_p.Q452R	p.Q1158R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3509	+		Hepatocellular(1079;0.137)	1158					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3473A>G	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.404044|4.404044	0.83230|0.83230	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590|ENST00000440640	T;T|.	0.35973|.	1.7;1.28|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.71333|0.71333	0.3327|0.3327	M|M	0.68952|0.68952	2.095|2.095	0.40088|0.40088	D|D	0.976221|0.976221	P;D|.	0.63046|.	0.651;0.992|.	B;D|.	0.72982|.	0.118;0.979|.	T|T	0.72711|0.72711	-0.4211|-0.4211	10|5	0.87932|.	D|.	0|.	-19.2352|-19.2352	13.9022|13.9022	0.63812|0.63812	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1158;1158|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	R|G	1158;1158;38|945	ENSP00000381657:Q1158R;ENSP00000407411:Q38R|.	ENSP00000221482:Q1158R|.	Q|R	+|+	2|1	0|2	DOT1L|DOT1L	2174362|2174362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	4.231000|4.231000	0.58639|0.58639	1.897000|1.897000	0.54924|0.54924	0.459000|0.459000	0.35465|0.35465	CAG|AGG		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		11	62	0	0	0	0	11	62				
TICAM1	148022	broad.mit.edu	37	19	4816803	4816803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:4816803C>A	ENST00000248244.5	-	2	1816	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	529	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCTGTGGGGCTTGAAGGTGT	0.657																																						uc002mbi.2		NA																	0				breast(1)	1						c.(1585-1587)AAG>AAT		toll-like receptor adaptor molecule 1							52.0	40.0	44.0					19																	4816803		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816803C>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1587G>T	19.37:g.4816803C>A	ENSP00000248244:p.Lys529Asn						p.K529N	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1838	-			529			Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1587G>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685028	0.29872	.	.	ENSG00000127666	ENST00000248244	T	0.46063	0.88	4.67	-0.996	0.10218	.	0.794643	0.10568	N	0.659501	T	0.34077	0.0885	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32534	-0.9903	10	0.30854	T	0.27	-8.7774	11.2903	0.49245	0.0:0.4689:0.4512:0.0799	.	529	Q8IUC6	TCAM1_HUMAN	N	529	ENSP00000248244:K529N	ENSP00000248244:K529N	K	-	3	2	TICAM1	4767803	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.010000	0.12743	0.075000	0.16796	0.313000	0.20887	AAG		0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		13	23	1	0	7.93e-07	8.61e-07	13	23				
FUT5	2527	broad.mit.edu	37	19	5867388	5867388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:5867388C>T	ENST00000588525.1	-	2	436	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FUT5_ENST00000252675.5_Missense_Mutation_p.D117N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	117					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						ATGACCGCGTCTGCCTGTGGG	0.642																																						uc002mdo.3		NA																	0					0						c.(349-351)GAC>AAC		fucosyltransferase 5							71.0	64.0	67.0					19																	5867388		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867388C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.349G>A	19.37:g.5867388C>T	ENSP00000466880:p.Asp117Asn					FUT5_uc010duo.2_Missense_Mutation_p.D117N	p.D117N	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	437	-			117			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.349G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838351	0.32513	.	.	ENSG00000130383	ENST00000252675	T	0.35421	1.31	2.09	-0.847	0.10730	.	0.192410	0.33938	U	0.004413	T	0.41143	0.1146	M	0.81179	2.53	0.09310	N	0.999997	P	0.35481	0.504	B	0.43018	0.405	T	0.35724	-0.9777	10	0.29301	T	0.29	.	8.921	0.35612	0.0:0.5687:0.4313:0.0	.	117	Q11128	FUT5_HUMAN	N	117	ENSP00000252675:D117N	ENSP00000252675:D117N	D	-	1	0	FUT5	5818388	0.815000	0.29118	0.002000	0.10522	0.001000	0.01503	1.861000	0.39438	0.183000	0.20059	-0.693000	0.03709	GAC		0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		21	38	0	0	0	0	21	38				
SLC1A6	6511	broad.mit.edu	37	19	15072831	15072831	+	Silent	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15072831C>A	ENST00000221742.3	-	5	925	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SLC1A6_ENST00000430939.2_Silent_p.L242L|SLC1A6_ENST00000598504.1_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000600144.1_Silent_p.L306L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	306					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGATGCCCACCAGCCTCATAA	0.572																																						uc002naa.1		NA																	0				pancreas(3)|ovary(2)|skin(1)	6						c.(916-918)CTG>CTT		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						79.0	76.0	77.0					19																	15072831		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072831C>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.918G>T	19.37:g.15072831C>A						SLC1A6_uc010dzu.1_Silent_p.L306L|SLC1A6_uc010xod.1_Silent_p.L242L|SLC1A6_uc002nab.2_Silent_p.L306L|SLC1A6_uc002nac.2_Silent_p.L306L	p.L306L	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	926	-			306			Helical; (Potential).		Q8N753	Silent	SNP	ENST00000221742.3	37	c.918G>T	CCDS12321.1																																																																																				0.572	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	92	1	0	0.00909568	0.00938836	4	92				
CYP4F12	66002	broad.mit.edu	37	19	15784508	15784508	+	Missense_Mutation	SNP	C	C	T	rs558393549	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15784508C>T	ENST00000550308.1	+	2	549	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R57W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	57					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCCCCCAAAACGGAACTGGTT	0.592													.|||	3	0.000599042	0.0	0.0014	5008	,	,		5327	0.002		0.0	False		,,,				2504	0.0					uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(169-171)CGG>TGG		cytochrome P450, family 4, subfamily F,							62.0	70.0	67.0					19																	15784508		2147	4264	6411	SO:0001583	missense	66002							g.chr19:15784508C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.169C>T	19.37:g.15784508C>T	ENSP00000448998:p.Arg57Trp					CYP4F12_uc010xoo.1_Missense_Mutation_p.R57W|CYP4F12_uc010xop.1_Missense_Mutation_p.R57W	p.R57W	NM_023944	NP_076433					2	230	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.169C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	7.855	0.724762	0.15439	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.88431	-2.38;-2.38	2.99	-4.58	0.03410	.	0.408748	0.19223	U	0.119638	T	0.79417	0.4442	L	0.41492	1.28	0.09310	N	1	B;B;B	0.28820	0.224;0.112;0.033	B;B;B	0.33690	0.168;0.075;0.032	T	0.67776	-0.5583	10	0.51188	T	0.08	.	3.2385	0.06772	0.4833:0.2812:0.0:0.2355	.	57;57;57	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	W	57	ENSP00000448998:R57W;ENSP00000321821:R57W	ENSP00000321821:R57W	R	+	1	2	CYP4F12	15645508	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.118000	0.03280	-0.951000	0.03654	-0.332000	0.08345	CGG		0.592	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			6	123	0	0	0	0	6	123				
FCGBP	8857	broad.mit.edu	37	19	40408592	40408592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:40408592C>T	ENST00000221347.6	-	8	4254	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1416	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGAGTTGCCGAACTCATT	0.637																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(4246-4248)GGC>GAC		Fc fragment of IgG binding protein precursor							75.0	72.0	73.0					19																	40408592		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40408592C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4247G>A	19.37:g.40408592C>T	ENSP00000221347:p.Gly1416Asp						p.G1416D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4255	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1416			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.4247G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317740	0.60524	.	.	ENSG00000090920	ENST00000221347	T	0.27104	1.69	4.91	4.91	0.64330	von Willebrand factor, type D domain (1);	0.000000	0.64402	D	0.000001	T	0.66771	0.2823	H	0.97564	4.03	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	T	0.79727	-0.1682	10	0.56958	D	0.05	.	16.935	0.86201	0.0:1.0:0.0:0.0	.	1416	Q9Y6R7	FCGBP_HUMAN	D	1416	ENSP00000221347:G1416D	ENSP00000221347:G1416D	G	-	2	0	FCGBP	45100432	0.948000	0.32251	0.995000	0.50966	0.403000	0.30841	2.371000	0.44248	2.297000	0.77311	0.644000	0.83932	GGC		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		70	35	0	0	0	0	70	35				
RPL13A	23521	broad.mit.edu	37	19	49993179	49993179	+	Splice_Site	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:49993179G>A	ENST00000391857.4	+	2	164	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	SNORD35A_ENST00000363389.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|CTD-3148I10.15_ENST00000595815.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	30					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTACTGCTGGGTAAGTCGCT	0.592																																						uc002pny.2		NA																	0					0						c.(88-90)GGC>AGC		ribosomal protein L13a							107.0	103.0	104.0					19																	49993179		2203	4300	6503	SO:0001630	splice_region_variant	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49993179G>A	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.88+1G>A	19.37:g.49993179G>A						RPL13A_uc002pnz.2_Intron|RPL13A_uc002poa.2_Nonsense_Mutation_p.W20*|SNORD32A_uc010emy.1_5'Flank|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	p.G30S	NM_012423	NP_036555	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	110	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	30					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.88G>A	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620533	0.96660	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	4.65	4.65	0.58169	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000003	D	0.87051	0.6081	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91291	0.5059	9	0.87932	D	0	.	15.3911	0.74744	0.0:0.0:1.0:0.0	.	30	P40429	RL13A_HUMAN	S	30	.	ENSP00000375730:G30S	G	+	1	0	RPL13A	54684991	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.244000	0.89823	2.277000	0.76020	0.561000	0.74099	GGC		0.592	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1		Missense_Mutation	38	100	0	0	0	0	38	100				
SYT5	6861	broad.mit.edu	37	19	55687172	55687172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:55687172G>A	ENST00000354308.3	-	5	814	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SYT5_ENST00000537500.1_Missense_Mutation_p.R149W|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.R146W|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	149	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTAGACCCGCACATAGGGG	0.622																																						uc002qjm.1		NA																	0					0						c.(445-447)CGG>TGG		synaptotagmin V							90.0	91.0	90.0					19																	55687172		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687172G>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.445C>T	19.37:g.55687172G>A	ENSP00000346265:p.Arg149Trp					SYT5_uc002qjp.2_Missense_Mutation_p.R146W|SYT5_uc002qjn.1_Missense_Mutation_p.R149W|SYT5_uc002qjo.1_Missense_Mutation_p.R149W	p.R149W	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	1505	-			149			Cytoplasmic (Potential).|C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.445C>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097278	0.76870	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.08634	3.07;3.07	4.55	-3.39	0.04868	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.248597	0.37219	N	0.002184	T	0.27489	0.0675	M	0.85710	2.77	0.26862	N	0.967927	D;D;D	0.76494	0.999;0.957;0.995	D;P;P	0.66979	0.948;0.448;0.773	T	0.31530	-0.9940	10	0.62326	D	0.03	.	17.1356	0.86738	0.0:0.0:0.1556:0.8444	.	146;149;149	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	W	149;149;146	ENSP00000442896:R149W;ENSP00000346265:R149W	ENSP00000346265:R149W	R	-	1	2	SYT5	60378984	0.989000	0.36119	0.091000	0.20842	0.715000	0.41141	1.867000	0.39499	-0.191000	0.10448	-0.397000	0.06425	CGG		0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		27	82	0	0	0	0	27	82				
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:56042631G>C	ENST00000413299.1	-	3	372	c.335C>G	c.(334-336)tCg>tGg	p.S112W	SBK2_ENST00000344158.3_Missense_Mutation_p.S112W	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667																																						uc010ygc.1		NA																	0					0						c.(334-336)TCG>TGG		SH3-binding domain kinase family, member 2							39.0	46.0	43.0					19																	56042631		2142	4238	6380	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042631G>C		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.335C>G	19.37:g.56042631G>C	ENSP00000389015:p.Ser112Trp						p.S112W	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			2	335	-			112			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.335C>G	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647949	0.29336	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.67865	-0.29;-0.29	4.89	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.867705	0.10243	N	0.698143	T	0.80869	0.4706	M	0.84773	2.715	0.09310	N	0.999998	D	0.76494	0.999	D	0.72075	0.976	T	0.64892	-0.6300	10	0.40728	T	0.16	-9.7133	6.7585	0.23528	0.0982:0.2364:0.6654:0.0	.	112	P0C263	SBK2_HUMAN	W	112	ENSP00000389015:S112W;ENSP00000345044:S112W	ENSP00000345044:S112W	S	-	2	0	SBK2	60734443	0.001000	0.12720	0.479000	0.27329	0.330000	0.28571	1.199000	0.32235	1.069000	0.40788	0.561000	0.74099	TCG		0.667	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		5	24	0	0	0	0	5	24				
OSR1	130497	broad.mit.edu	37	2	19552911	19552911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:19552911C>T	ENST00000272223.2	-	2	1000	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	OSR1_ENST00000536433.1_Missense_Mutation_p.R219Q	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	219					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGTGGTCTCGCAGGTGGTC	0.597																																						uc002rdc.2		NA																	0				ovary(1)	1						c.(655-657)CGA>CAA		odd-skipped related 1							69.0	71.0	70.0					2																	19552911		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552911C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.656G>A	2.37:g.19552911C>T	ENSP00000272223:p.Arg219Gln						p.R219Q	NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN			2	959	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	219			C2H2-type 2.		B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.656G>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872327	0.91587	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.53423	0.62;0.62	6.04	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.41573	1.285	0.53005	D	0.999962	D	0.60575	0.988	P	0.58077	0.832	T	0.45425	-0.9262	9	.	.	.	-16.7395	15.854	0.78960	0.1363:0.8637:0.0:0.0	.	219	Q8TAX0	OSR1_HUMAN	Q	219	ENSP00000272223:R219Q;ENSP00000441801:R219Q	.	R	-	2	0	OSR1	19416392	0.692000	0.27719	0.994000	0.49952	0.732000	0.41865	5.995000	0.70631	2.890000	0.99128	0.650000	0.86243	CGA		0.597	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		48	65	0	0	0	0	48	65				
PLEKHH2	130271	broad.mit.edu	37	2	43927243	43927243	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:43927243C>T	ENST00000282406.4	+	8	1256	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	382					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGATAGTTCCTCGGATGAAC	0.403																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1144-1146)TCC>TCT		pleckstrin homology domain containing, family H							49.0	51.0	50.0					2																	43927243		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927243C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1146C>T	2.37:g.43927243C>T						PLEKHH2_uc002rte.3_Silent_p.S382S|PLEKHH2_uc002rtf.3_Silent_p.S381S	p.S382S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	1229	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	382					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.1146C>T	CCDS1812.1																																																																																				0.403	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		51	63	0	0	0	0	51	63				
ABCG8	64241	broad.mit.edu	37	2	44078781	44078781	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:44078781C>G	ENST00000272286.2	+	4	471	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	127	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GCGGCAAGATCAAGTCAGGCC	0.602																																						uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(379-381)ATC>ATG		ATP-binding cassette sub-family G member 8							80.0	66.0	70.0					2																	44078781		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078781C>G	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.381C>G	2.37:g.44078781C>G	ENSP00000272286:p.Ile127Met					ABCG8_uc010yoa.1_Missense_Mutation_p.I127M	p.I127M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			4	471	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	127			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.381C>G	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	9.155	1.017197	0.19355	.	.	ENSG00000143921	ENST00000272286	T	0.40225	1.04	4.92	0.946	0.19549	ABC transporter-like (2);	0.189782	0.56097	N	0.000038	T	0.23806	0.0576	N	0.24115	0.695	0.36645	D	0.877088	B;B	0.21225	0.043;0.053	B;B	0.23574	0.028;0.047	T	0.08472	-1.0720	10	0.27785	T	0.31	.	5.7224	0.17995	0.0:0.3191:0.1826:0.4983	.	127;127	Q9H221-2;Q9H221	.;ABCG8_HUMAN	M	127	ENSP00000272286:I127M	ENSP00000272286:I127M	I	+	3	3	ABCG8	43932285	0.998000	0.40836	0.992000	0.48379	0.949000	0.60115	0.873000	0.28052	-0.129000	0.11620	-0.136000	0.14681	ATC		0.602	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		42	48	0	0	0	0	42	48				
ZNF514	84874	broad.mit.edu	37	2	95815442	95815442	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815442C>A	ENST00000295208.2	-	5	1250	c.788G>T	c.(787-789)aGt>aTt	p.S263I	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	263					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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCCACATTCACTGCATTCATA	0.433																																						uc002sue.1		NA																	0					0						c.(787-789)AGT>ATT		zinc finger protein 514							94.0	102.0	99.0					2																	95815442		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815442C>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.788G>T	2.37:g.95815442C>A	ENSP00000295208:p.Ser263Ile					ZNF514_uc002sud.1_Missense_Mutation_p.S336I	p.S263I	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1162	-			263			C2H2-type 3.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.788G>T	CCDS2011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352498|2.352498	0.41700|0.41700	.|.	.|.	ENSG00000144026|ENSG00000144026	ENST00000295208;ENST00000411425|ENST00000542127	T;T|.	0.07800|.	3.16;3.16|.	2.85|2.85	2.85|2.85	0.33270|0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.49455|0.49455	1.56|1.56	0.19775|0.19775	N|N	0.999956|0.999956	D;P|.	0.65815|.	0.995;0.662|.	P;P|.	0.60789|.	0.879;0.496|.	T|T	0.23476|0.23476	-1.0187|-1.0187	9|6	0.38643|0.36615	T|T	0.18|0.2	.|.	7.9779|7.9779	0.30166|0.30166	0.0:0.746:0.254:0.0|0.0:0.746:0.254:0.0	.|.	263;82|.	Q96K75;Q658L7|.	ZN514_HUMAN;.|.	I|L	263|47	ENSP00000295208:S263I;ENSP00000405509:S263I|.	ENSP00000295208:S263I|ENSP00000443532:V47L	S|V	-|-	2|1	0|0	ZNF514|ZNF514	95179169|95179169	0.000000|0.000000	0.05858|0.05858	0.970000|0.970000	0.41538|0.41538	0.998000|0.998000	0.95712|0.95712	-0.614000|-0.614000	0.05604|0.05604	1.887000|1.887000	0.54652|0.54652	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.433	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		26	115	1	0	3.01e-09	3.34e-09	26	115				
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	G	C	rs140564139		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815453G>C	ENST00000295208.2	-	5	1239	c.777C>G	c.(775-777)ccC>ccG	p.P259P	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Silent_p.P259P	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418																																						uc002sue.1		NA																	0					0						c.(775-777)CCC>CCG		zinc finger protein 514							97.0	104.0	102.0					2																	95815453		2203	4300	6503	SO:0001819	synonymous_variant	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815453G>C	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.777C>G	2.37:g.95815453G>C						ZNF514_uc002sud.1_Silent_p.P332P	p.P259P	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1151	-			259					Q5JPJ3	Silent	SNP	ENST00000295208.2	37	c.777C>G	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	7.704	0.693672	0.15039	.	.	ENSG00000144026	ENST00000542127	.	.	.	2.74	0.117	0.14652	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	5	0.87932	D	0	.	2.378	0.04346	0.3974:0.0:0.3722:0.2304	.	.	.	.	R	43	.	ENSP00000443532:P43R	P	-	2	0	ZNF514	95179180	0.000000	0.05858	0.998000	0.56505	0.998000	0.95712	-2.142000	0.01298	-0.010000	0.14271	0.655000	0.94253	CCT		0.418	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		30	130	0	0	0	0	30	130				
TUBA3E	112714	broad.mit.edu	37	2	130951598	130951598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:130951598C>T	ENST00000312988.7	-	4	917	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	273					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ATGACTGGGGCGTAGGTGGCC	0.597																																						uc002tqv.2		NA																	0				skin(1)	1						c.(817-819)GCC>ACC		tubulin, alpha 3e							141.0	115.0	124.0					2																	130951598		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951598C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.817G>A	2.37:g.130951598C>T	ENSP00000318197:p.Ala273Thr						p.A273T	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	918	-	Colorectal(110;0.1)		273						Missense_Mutation	SNP	ENST00000312988.7	37	c.817G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.945345	0.34377	.	.	ENSG00000152086	ENST00000312988	D	0.82984	-1.67	2.92	2.03	0.26663	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49305	U	0.000141	D	0.90844	0.7124	M	0.93720	3.45	0.44289	D	0.99715	P	0.49307	0.922	P	0.61592	0.891	D	0.89753	0.3941	10	0.72032	D	0.01	.	7.8744	0.29584	0.0:0.8679:0.0:0.1321	.	273	Q6PEY2	TBA3E_HUMAN	T	273	ENSP00000318197:A273T	ENSP00000318197:A273T	A	-	1	0	TUBA3E	130668068	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	3.933000	0.56545	0.584000	0.29591	0.449000	0.29647	GCC		0.597	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		32	199	0	0	0	0	32	199				
BAZ2B	29994	broad.mit.edu	37	2	160204131	160204131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:160204131C>T	ENST00000392783.2	-	31	5815	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1774					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGTTTTCTTCATTTTCATTC	0.343																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(5320-5322)GAA>AAA		bromodomain adjacent to zinc finger domain, 2B							114.0	97.0	102.0					2																	160204131		1828	4080	5908	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160204131C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5320G>A	2.37:g.160204131C>T	ENSP00000376534:p.Glu1774Lys					BAZ2B_uc002uap.2_Missense_Mutation_p.E1738K	p.E1774K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			31	5672	-			1774					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5320G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844132	0.51164	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.60424	0.23;0.25;0.23;0.19	5.65	5.65	0.86999	.	0.000000	0.37623	U	0.002013	T	0.49029	0.1533	L	0.34521	1.04	0.58432	D	0.999996	B;P	0.35456	0.126;0.502	B;B	0.31614	0.027;0.133	T	0.44483	-0.9325	10	0.36615	T	0.2	-22.0352	20.0781	0.97751	0.0:1.0:0.0:0.0	.	1738;1774	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1738;1774;1740;1674	ENSP00000376533:E1738K;ENSP00000376534:E1774K;ENSP00000348087:E1740K;ENSP00000339670:E1674K	ENSP00000339670:E1674K	E	-	1	0	BAZ2B	159912377	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.423000	0.59861	2.817000	0.96982	0.563000	0.77884	GAA		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			14	33	0	0	0	0	14	33				
TBR1	10716	broad.mit.edu	37	2	162274717	162274717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:162274717C>T	ENST00000389554.3	+	3	1170	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	285					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCTAGGAAATCGGGTCTATAT	0.478																																						uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(853-855)CGG>TGG		T-box, brain, 1							55.0	58.0	57.0					2																	162274717		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274717C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.853C>T	2.37:g.162274717C>T	ENSP00000374205:p.Arg285Trp					TBR1_uc010foy.2_5'UTR	p.R285W	NM_006593	NP_006584	Q16650	TBR1_HUMAN			3	1155	+			285			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.853C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705734	0.68615	.	.	ENSG00000136535	ENST00000389554;ENST00000411412	D;D	0.89681	-2.55;-2.55	5.07	5.07	0.68467	p53-like transcription factor, DNA-binding (1);	0.160851	0.53938	D	0.000053	D	0.95255	0.8461	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95599	0.8661	10	0.87932	D	0	.	13.5747	0.61866	0.1555:0.8445:0.0:0.0	.	285	Q16650	TBR1_HUMAN	W	285;20	ENSP00000374205:R285W;ENSP00000393934:R20W	ENSP00000374205:R285W	R	+	1	2	TBR1	161982963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.914000	0.39966	2.790000	0.95986	0.650000	0.86243	CGG		0.478	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		19	28	0	0	0	0	19	28				
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)ATA>ACA		nuclear factor erythroid 2-like 2 isoform 1							64.0	57.0	59.0					2																	178098962		1844	4100	5944	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098962A>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.83T>C	2.37:g.178098962A>G	ENSP00000380252:p.Ile28Thr	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.I12T|NFE2L2_uc010zfa.1_Missense_Mutation_p.I12T|NFE2L2_uc002uli.3_Missense_Mutation_p.I12T|NFE2L2_uc010fra.2_Missense_Mutation_p.I12T|NFE2L2_uc010frb.2_Missense_Mutation_p.I12T	p.I28T	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	638	-			28					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.83T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.744913	0.69418	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	.	0.042355	0.85682	D	0.000000	T	0.61961	0.2389	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.922;0.991;0.964;0.922	T	0.69254	-0.5193	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	12;12;12;28	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	T	12;28;12;12;12;12;12	ENSP00000380253:I12T;ENSP00000380252:I28T;ENSP00000411575:I12T;ENSP00000391590:I12T;ENSP00000400073:I12T;ENSP00000412191:I12T;ENSP00000410015:I12T	ENSP00000380252:I28T	I	-	2	0	NFE2L2	177807208	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	ATA		0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	14	0	0	0	0	19	14				
TTN	7273	broad.mit.edu	37	2	179463494	179463494	+	Silent	SNP	C	C	T	rs370998052		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179463494C>T	ENST00000591111.1	-	241	52244	c.52020G>A	c.(52018-52020)gcG>gcA	p.A17340A	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A10108A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.A18981A|TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN_ENST00000460472.2_Silent_p.A9916A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17340	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTAGCAGTCGCTGGGTCTG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		19712	0.001		0.0	False		,,,				2504	0.0					uc010zfg.1		NA																	4	Substitution - coding silent(4)		large_intestine(4)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49237-49239)GCG>GCA		titin isoform N2-A		C	,,,	0,3730		0,0,1865	144.0	141.0	142.0		29748,49239,30123,30324	3.9	1.0	2		142	1,8169		0,1,4084	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5949	TT,TC,CC		0.0122,0.0,0.0084	,,,	9916/26927,16413/33424,10041/27052,10108/27119	179463494	1,11899	1865	4085	5950	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463494C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52020G>A	2.37:g.179463494C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10108A|TTN_uc010zfi.1_Silent_p.A10041A|TTN_uc010zfj.1_Silent_p.A9916A	p.A16413A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49463	-			17340					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.49239G>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	162	0	0	0	0	56	162				
BARD1	580	broad.mit.edu	37	2	215645436	215645436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:215645436T>C	ENST00000260947.4	-	4	1296	c.1162A>G	c.(1162-1164)Att>Gtt	p.I388V	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.I244V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	388					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGACTAATGAATTCATCG	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NA																	0				lung(2)	2						c.(1162-1164)ATT>GTT		BRCA1 associated RING domain 1							186.0	162.0	170.0					2																	215645436		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645436T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1162A>G	2.37:g.215645436T>C	ENSP00000260947:p.Ile388Val					BARD1_uc010zjm.1_Missense_Mutation_p.I244V	p.I388V	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1297	-		Renal(323;0.0243)	388					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1162A>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	6.363	0.434988	0.12045	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72942	-0.7;-0.05	5.52	0.026	0.14148	.	0.976100	0.08431	N	0.946861	T	0.61160	0.2325	L	0.50333	1.59	0.09310	N	1	B;B	0.26195	0.144;0.07	B;B	0.21546	0.035;0.024	T	0.42816	-0.9429	10	0.24483	T	0.36	-3.8001	8.8231	0.35039	0.118:0.0:0.388:0.494	.	244;388	E7EUI3;Q99728	.;BARD1_HUMAN	V	388;244	ENSP00000260947:I388V;ENSP00000406752:I244V	ENSP00000260947:I388V	I	-	1	0	BARD1	215353681	0.000000	0.05858	0.046000	0.18839	0.023000	0.10783	-0.273000	0.08548	-0.226000	0.09899	0.460000	0.39030	ATT		0.423	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		6	114	0	0	0	0	6	114				
PAX3	5077	broad.mit.edu	37	2	223161823	223161823	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:223161823G>T	ENST00000350526.4	-	2	331	c.195C>A	c.(193-195)caC>caA	p.H65Q	PAX3_ENST00000409551.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Q|PAX3_ENST00000258387.5_Missense_Mutation_p.H65Q|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Q|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Q|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	65	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		Missing (in WS1). {ECO:0000269|PubMed:1347148}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H65H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGATGCCGTGGTGGGCCA	0.657			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - coding silent(1)		large_intestine(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(193-195)CAC>CAA		paired box 3 isoform PAX3							35.0	33.0	34.0					2																	223161823		2202	4298	6500	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223161823G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.195C>A	2.37:g.223161823G>T	ENSP00000343052:p.His65Gln					PAX3_uc002vmt.1_Missense_Mutation_p.H65Q|PAX3_uc002vmy.1_Missense_Mutation_p.H65Q|PAX3_uc002vmv.1_Missense_Mutation_p.H65Q|PAX3_uc002vmw.1_Missense_Mutation_p.H65Q|PAX3_uc002vmx.1_Missense_Mutation_p.H65Q|PAX3_uc002vmz.1_Missense_Mutation_p.H65Q|PAX3_uc002vna.1_Missense_Mutation_p.H65Q|CCDC140_uc002vnb.1_5'Flank	p.H65Q	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	561	-		Renal(207;0.0183)	65		Missing (in WS1).	Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.195C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089689	0.55968	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99264	-5.65;-5.65;-5.65;-5.65;-5.65;-5.65;-5.65;-5.65	5.24	1.31	0.21738	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	N	0.03967	-0.31	0.48696	D	0.999699	P;P;D;D;D;P;D	0.89917	0.817;0.771;1.0;1.0;1.0;0.87;1.0	P;B;D;D;D;P;D	0.91635	0.839;0.315;0.997;0.999;0.968;0.467;0.998	D	0.92889	0.6329	10	0.05833	T	0.94	.	10.0031	0.41940	0.413:0.0:0.587:0.0	.	65;65;65;65;65;65;65	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	Q	65	ENSP00000375921:H65Q;ENSP00000342092:H65Q;ENSP00000343052:H65Q;ENSP00000375922:H65Q;ENSP00000338767:H65Q;ENSP00000386750:H65Q;ENSP00000386817:H65Q;ENSP00000258387:H65Q	ENSP00000258387:H65Q	H	-	3	2	PAX3	222870067	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.318000	0.19504	0.196000	0.20367	0.655000	0.94253	CAC		0.657	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			15	7	1	0	4.75e-09	5.26e-09	15	7				
PLCB1	23236	broad.mit.edu	37	20	8745992	8745992	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:8745992G>T	ENST00000338037.6	+	26	2944	c.2917G>T	c.(2917-2919)Gac>Tac	p.D973Y	PLCB1_ENST00000378641.3_Missense_Mutation_p.D973Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	973					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGCCAAAAAGGACAGTAAGAA	0.328																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2917-2919)GAC>TAC		phosphoinositide-specific phospholipase C beta 1							50.0	54.0	53.0					20																	8745992		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8745992G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2917G>T	20.37:g.8745992G>T	ENSP00000338185:p.Asp973Tyr					PLCB1_uc010zrb.1_Missense_Mutation_p.D872Y|PLCB1_uc002wna.2_Missense_Mutation_p.D973Y|PLCB1_uc002wnc.1_Missense_Mutation_p.D872Y|PLCB1_uc002wnd.1_Missense_Mutation_p.D550Y	p.D973Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			26	2920	+			973					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2917G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309528	0.81247	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.19250	2.17;2.16;2.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	N	0.19112	0.55	0.80722	D	1	D;D	0.62365	0.991;0.967	P;P	0.51999	0.687;0.6	T	0.00733	-1.1589	10	0.35671	T	0.21	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	973;973	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Y	973;973;973;893;893	ENSP00000367908:D973Y;ENSP00000338185:D973Y;ENSP00000367904:D973Y	ENSP00000338185:D973Y	D	+	1	0	PLCB1	8693992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.890000	0.99128	0.650000	0.86243	GAC		0.328	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			31	27	1	0	7.64e-26	8.97e-26	31	27				
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	rs368872232		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)GTG>ATG		somatostatin receptor 4							195.0	203.0	200.0					20																	23016973		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016973G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.853G>A	20.37:g.23016973G>A	ENSP00000255008:p.Val285Met						p.V285M	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	917	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		285			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.853G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	2.403	-0.337113	0.05278	.	.	ENSG00000132671	ENST00000255008	T	0.72167	-0.63	3.36	-0.825	0.10809	GPCR, rhodopsin-like superfamily (1);	0.372260	0.21521	U	0.073207	T	0.48786	0.1519	N	0.25789	0.76	0.18873	N	0.999988	B	0.27498	0.18	B	0.26202	0.067	T	0.27938	-1.0059	10	0.34782	T	0.22	.	4.4573	0.11649	0.4609:0.2801:0.259:0.0	.	285	P31391	SSR4_HUMAN	M	285	ENSP00000255008:V285M	ENSP00000255008:V285M	V	+	1	0	SSTR4	22964973	0.893000	0.30496	0.193000	0.23327	0.330000	0.28571	-0.061000	0.11693	-0.109000	0.12044	-0.119000	0.15052	GTG		0.552	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			42	127	0	0	0	0	42	127				
TTLL9	164395	broad.mit.edu	37	20	30486334	30486334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:30486334C>T	ENST00000375938.4	+	4	425	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F|RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	58	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGGACGTCCTTCGCCACAG	0.522																																						uc010gdx.1		NA																	0				ovary(2)	2						c.(172-174)CTT>TTT		tubulin tyrosine ligase-like family, member 9							97.0	99.0	99.0					20																	30486334		2055	4201	6256	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30486334C>T	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.172C>T	20.37:g.30486334C>T	ENSP00000365105:p.Leu58Phe					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.P67L|TTLL9_uc010ztp.1_RNA	p.L58F	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	425	+			58			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.172C>T	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981200	0.53827	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.11277	3.73;3.73;3.51;2.85;2.79;3.61	5.48	4.54	0.55810	.	0.140698	0.48767	D	0.000173	T	0.19366	0.0465	L	0.33753	1.03	0.45930	D	0.998769	D	0.64830	0.994	D	0.67725	0.953	T	0.01071	-1.1461	10	0.46703	T	0.11	.	10.5436	0.45047	0.0:0.9106:0.0:0.0894	.	58	Q3SXZ7	TTLL9_HUMAN	F	58;58;8;8;40;40;8	ENSP00000365105:L58F;ENSP00000442515:L58F;ENSP00000308980:L8F;ENSP00000365086:L8F;ENSP00000365100:L40F;ENSP00000365088:L8F	ENSP00000308980:L8F	L	+	1	0	TTLL9	29949995	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.002000	0.40835	1.336000	0.45506	-0.219000	0.12488	CTT		0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		24	45	0	0	0	0	24	45				
BPIFB4	149954	broad.mit.edu	37	20	31677343	31677343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:31677343G>C	ENST00000375483.3	+	7	1030	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	344						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTTGTCAATGACCAGCTGGG	0.582																																						uc010zue.1		NA																	0					0						c.(1030-1032)GAC>CAC		antimicrobial peptide RY2G5 precursor							152.0	114.0	127.0					20																	31677343		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31677343G>C	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1030G>C	20.37:g.31677343G>C	ENSP00000364632:p.Asp344His						p.D344H	NM_182519	NP_872325	P59827	LPLC4_HUMAN			7	1045	+			344					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1030G>C	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829689	0.71258	.	.	ENSG00000186191	ENST00000375483	T	0.04862	3.54	5.2	5.2	0.72013	.	0.081943	0.52532	D	0.000079	T	0.14313	0.0346	L	0.29908	0.895	0.38243	D	0.941396	D	0.76494	0.999	D	0.69142	0.962	T	0.04115	-1.0976	10	0.48119	T	0.1	-31.2319	14.2208	0.65826	0.0:0.0:1.0:0.0	.	344	P59827	BPIB4_HUMAN	H	344	ENSP00000364632:D344H	ENSP00000364632:D344H	D	+	1	0	BPIFB4	31141004	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.000000	0.57039	2.430000	0.82344	0.549000	0.68633	GAC		0.582	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		54	66	0	0	0	0	54	66				
ATP9A	10079	broad.mit.edu	37	20	50234077	50234077	+	Silent	SNP	G	G	A	rs377730874		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:50234077G>A	ENST00000338821.5	-	22	2631	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	ATP9A_ENST00000311637.5_Silent_p.D653D|ATP9A_ENST00000402822.1_Silent_p.D668D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	789					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGCTGACGTCATTGCCTC	0.498																																						uc002xwg.1		NA																	0				ovary(4)	4						c.(2365-2367)GAC>GAT		ATPase, class II, type 9A		G		1,4405	2.1+/-5.4	0,1,2202	118.0	74.0	89.0		2367	-2.1	1.0	20		89	0,8600		0,0,4300	no	coding-synonymous	ATP9A	NM_006045.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		789/1048	50234077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50234077G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2367C>T	20.37:g.50234077G>A						ATP9A_uc010gih.1_Silent_p.D653D|ATP9A_uc002xwf.1_Intron	p.D789D	NM_006045	NP_006036	O75110	ATP9A_HUMAN			22	2367	-			789			Cytoplasmic (Potential).	Magnesium (By similarity).	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2367C>T	CCDS33489.1																																																																																				0.498	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		6	11	0	0	0	0	6	11				
LIPI	149998	broad.mit.edu	37	21	15538694	15538694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr21:15538694G>C	ENST00000536861.1	-	5	721	c.722C>G	c.(721-723)tCa>tGa	p.S241*	LIPI_ENST00000344577.2_Nonsense_Mutation_p.S262*			Q6XZB0	LIPI_HUMAN	lipase, member I	241					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGAAAATTGATTTAGGACA	0.358																																						uc002yjm.2		NA																	0				ovary(2)	2						c.(784-786)TCA>TGA		lipase, member I							118.0	113.0	115.0					21																	15538694		2203	4300	6503	SO:0001587	stop_gained	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15538694G>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.722C>G	21.37:g.15538694G>C	ENSP00000440381:p.Ser241*					LIPI_uc010gkw.1_Intron	p.S262*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	5	795	-			241					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Nonsense_Mutation	SNP	ENST00000536861.1	37	c.785C>G		.	.	.	.	.	.	.	.	.	.	G	15.98	2.993322	0.54041	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	.	.	.	5.48	5.48	0.80851	.	0.226599	0.43579	D	0.000554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	16.6428	0.85130	0.0:0.0:1.0:0.0	.	.	.	.	X	262;241	.	ENSP00000343331:S262X	S	-	2	0	LIPI	14460565	0.799000	0.28903	1.000000	0.80357	0.145000	0.21501	4.805000	0.62561	2.733000	0.93635	0.650000	0.86243	TCA		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		21	57	0	0	0	0	21	57				
CECR2	27443	broad.mit.edu	37	22	18022469	18022469	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:18022469G>T	ENST00000400585.2	+	16	2586	c.2148G>T	c.(2146-2148)atG>atT	p.M716I	CECR2_ENST00000400573.5_Missense_Mutation_p.M857I|CECR2_ENST00000262608.8_Missense_Mutation_p.M858I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	899					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGACTCCATGATGGACAGCC	0.637																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(2569-2571)ATG>ATT		cat eye syndrome chromosome region, candidate 2							56.0	63.0	61.0					22																	18022469		2032	4186	6218	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022469G>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2148G>T	22.37:g.18022469G>T	ENSP00000383428:p.Met716Ile					CECR2_uc010gqv.1_Missense_Mutation_p.M716I|CECR2_uc002zml.2_Missense_Mutation_p.M716I	p.M857I	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2697	+		all_epithelial(15;0.139)	899					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2571G>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.532834	0.85812	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.36520	1.35;1.34;1.25	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.58495	0.2126	M	0.69823	2.125	0.54753	D	0.999983	D;D;D	0.59357	0.985;0.969;0.969	P;D;D	0.63381	0.885;0.914;0.914	T	0.57312	-0.7833	10	0.44086	T	0.13	-20.6755	18.7183	0.91684	0.0:0.0:1.0:0.0	.	899;716;857	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	716;857;858	ENSP00000383428:M716I;ENSP00000383417:M857I;ENSP00000262608:M858I	ENSP00000262608:M858I	M	+	3	0	CECR2	16402469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.757000	0.91657	2.654000	0.90174	0.561000	0.74099	ATG		0.637	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		26	61	1	0	2.45e-14	2.77e-14	26	61				
LZTR1	8216	broad.mit.edu	37	22	21349206	21349206	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:21349206G>A	ENST00000215739.8	+	16	2192	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.V592V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	611					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)			TCAACCAGGTGATCATGATGA	0.617																																						uc002zto.2		NA																	0				ovary(2)|lung(2)	4						c.(1831-1833)GTG>GTA		leucine-zipper-like transcription regulator 1							100.0	90.0	93.0					22																	21349206		2203	4300	6503	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349206G>A	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.1833G>A	22.37:g.21349206G>A						LZTR1_uc002ztn.2_Silent_p.V570V|LZTR1_uc011ahy.1_Silent_p.V592V|LZTR1_uc002ztp.2_5'Flank	p.V611V	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	1936	+	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)	611					Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.1833G>A	CCDS33606.1																																																																																				0.617	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		51	108	0	0	0	0	51	108				
SEPT3	55964	broad.mit.edu	37	22	42383247	42383247	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:42383247C>T	ENST00000396426.3	+	4	624	c.369C>T	c.(367-369)gtC>gtT	p.V123V	SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000396425.3_Silent_p.V123V	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	123	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGCTGACCGTCATCGACACCC	0.493																																						uc003bbr.3		NA																	0					0						c.(367-369)GTC>GTT		septin 3 isoform A							96.0	89.0	92.0					22																	42383247		2203	4300	6503	SO:0001819	synonymous_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42383247C>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.369C>T	22.37:g.42383247C>T						WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.V123V|SEPT3_uc010gyr.2_Silent_p.V59V|SEPT3_uc011apj.1_Silent_p.V59V|SEPT3_uc010gys.2_Intron	p.V123V	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			4	507	+			123					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	c.369C>T	CCDS14026.2																																																																																				0.493	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		22	54	0	0	0	0	22	54				
GRAMD4	23151	broad.mit.edu	37	22	47054120	47054120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:47054120C>T	ENST00000406902.1	+	4	533	c.320C>T	c.(319-321)gCg>gTg	p.A107V	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	107					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAAACCAACGCGGAGATGCTG	0.657																																						uc003bhx.2		NA																	0				ovary(1)	1						c.(319-321)GCG>GTG		death-inducing-protein							59.0	60.0	60.0					22																	47054120		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47054120C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.320C>T	22.37:g.47054120C>T	ENSP00000385689:p.Ala107Val					GRAMD4_uc010had.2_Missense_Mutation_p.A46V	p.A107V	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	3	359	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	107			Potential.		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.320C>T	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	c	5.645	0.303646	0.10678	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.42131	0.98;0.98	4.85	4.85	0.62838	.	1.063610	0.07475	N	0.902870	T	0.17066	0.0410	N	0.02142	-0.665	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.09997	-1.0649	10	0.02654	T	1	-1.638	9.5449	0.39275	0.0:0.9025:0.0:0.0975	.	107	Q6IC98	GRAM4_HUMAN	V	107	ENSP00000385689:A107V;ENSP00000354313:A107V	ENSP00000354313:A107V	A	+	2	0	GRAMD4	45432784	0.061000	0.20836	0.654000	0.29608	0.841000	0.47740	1.670000	0.37502	2.407000	0.81776	0.552000	0.68991	GCG		0.657	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		10	42	0	0	0	0	10	42				
TTC21A	199223	broad.mit.edu	37	3	39170771	39170771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:39170771G>A	ENST00000431162.2	+	15	2260	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	TTC21A_ENST00000301819.6_Missense_Mutation_p.R710K|TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	709										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGACCCTCAGAGACAGGCGC	0.522																																						uc003cjc.2		NA																	0				ovary(1)	1						c.(2125-2127)AGA>AAA		tetratricopeptide repeat domain 21A isoform 2							119.0	121.0	120.0					3																	39170771		2100	4243	6343	SO:0001583	missense	199223						binding	g.chr3:39170771G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2126G>A	3.37:g.39170771G>A	ENSP00000398211:p.Arg709Lys					TTC21A_uc003cje.2_Missense_Mutation_p.R710K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R661K	p.R709K	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	15	2303	+			709					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.2126G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	5.622	0.299557	0.10622	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54479	0.58;0.57;0.67	5.85	3.51	0.40186	Tetratricopeptide-like helical (1);	0.137371	0.46758	N	0.000276	T	0.13286	0.0322	N	0.00201	-1.865	0.26522	N	0.974412	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35968	-0.9767	10	0.02654	T	1	-12.0793	8.9926	0.36033	0.8444:0.0:0.1556:0.0	.	661;710;709	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	710;692;709;661	ENSP00000301819:R710K;ENSP00000398211:R709K;ENSP00000410882:R661K	ENSP00000301819:R710K	R	+	2	0	TTC21A	39145775	1.000000	0.71417	0.961000	0.40146	0.838000	0.47535	3.127000	0.50484	0.491000	0.27793	-0.302000	0.09304	AGA		0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		67	52	0	0	0	0	67	52				
MAGI1	9223	broad.mit.edu	37	3	65376930	65376930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:65376930G>A	ENST00000497477.2	-	14	2302	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L|MAGI1_ENST00000330909.8_Missense_Mutation_p.P768L			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	768					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGGAACTCGGGGAGCACCTG	0.547																																						uc003dmn.2		NA																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2302-2304)CCC>CTC		membrane associated guanylate kinase, WW and PDZ							120.0	106.0	111.0					3																	65376930		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376930G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2303C>T	3.37:g.65376930G>A	ENSP00000424369:p.Pro768Leu					MAGI1_uc003dmm.2_Missense_Mutation_p.P768L|MAGI1_uc003dmo.2_Missense_Mutation_p.P768L|MAGI1_uc003dmp.2_Missense_Mutation_p.P768L|MAGI1_uc010hnx.1_Missense_Mutation_p.P51L	p.P768L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2829	-		Lung NSC(201;0.0016)	768					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2303C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.465309|2.465309	0.43839|0.43839	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|T	0.23754|0.21031	2.48;1.99;1.99;2.0;1.89;2.0|2.03	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.211483|0.211483	0.50627|0.50627	D|D	0.000111|0.000111	T|T	0.39200|0.39200	0.1069|0.1069	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B;D;D;D;B|.	0.62365|.	0.001;0.991;0.98;0.965;0.004|.	B;P;P;D;B|.	0.65874|.	0.003;0.801;0.818;0.939;0.008|.	T|T	0.00726|0.00726	-1.1592|-1.1592	10|8	0.39692|0.48119	T|T	0.17|0.1	-4.0297|-4.0297	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	768;768;768;768;768|.	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	L|S	768;768;664;643;768;768;554|649	ENSP00000385450:P768L;ENSP00000331157:P768L;ENSP00000418177:P643L;ENSP00000420323:P768L;ENSP00000424369:P768L;ENSP00000420796:P554L|ENSP00000418862:P649S	ENSP00000331157:P768L|ENSP00000418862:P649S	P|P	-|-	2|1	0|0	MAGI1|MAGI1	65351970|65351970	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.845000|0.845000	0.48019|0.48019	5.264000|5.264000	0.65513|0.65513	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	CCC|CCG		0.547	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		54	25	0	0	0	0	54	25				
ZDHHC23	254887	broad.mit.edu	37	3	113672830	113672830	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:113672830C>T	ENST00000330212.3	+	3	744	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	ZDHHC23_ENST00000498275.1_Silent_p.L143L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	149					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L149V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTGTTCTCTCTGGGCTACAT	0.522																																						uc003eau.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(445-447)CTG>TTG		zinc finger, DHHC domain containing 23							141.0	128.0	133.0					3																	113672830		2203	4300	6503	SO:0001819	synonymous_variant	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113672830C>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.445C>T	3.37:g.113672830C>T						ZDHHC23_uc003eav.2_Silent_p.L143L	p.L149L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	744	+			149			Helical; (Potential).		D3DN76	Silent	SNP	ENST00000330212.3	37	c.445C>T	CCDS33827.1																																																																																				0.522	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		34	96	0	0	0	0	34	96				
SHOX2	6474	broad.mit.edu	37	3	157820514	157820514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:157820514G>A	ENST00000425436.3	-	2	533	c.508C>T	c.(508-510)Cga>Tga	p.R170*	SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000490689.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194*|SHOX2_ENST00000554685.1_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	170					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGTTCCTCTCGCATGAAGGCG	0.597																																						uc003fbr.2		NA																	0					0						c.(508-510)CGA>TGA		short stature homeobox 2 isoform a							111.0	96.0	101.0					3																	157820514		2203	4300	6503	SO:0001587	stop_gained	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820514G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.508C>T	3.37:g.157820514G>A	ENSP00000398704:p.Arg170*					SHOX2_uc003fbs.2_Nonsense_Mutation_p.R194*|SHOX2_uc010hvw.2_Nonsense_Mutation_p.R170*	p.R170*	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	647	-			170			Homeobox.		O60465|O60467|O60903	Nonsense_Mutation	SNP	ENST00000425436.3	37	c.508C>T	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.253123|8.253123	0.98727|0.98727	.|.	.|.	ENSG00000168779|ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000555977|ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	.|.	.|.	.|.	5.49|5.49	4.56|4.56	0.56223|0.56223	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32346|.	0.0826|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30736|.	-0.9968|.	3|.	.|0.02654	.|T	.|1	.|.	12.984|12.984	0.58581|0.58581	0.0:0.0:0.7168:0.2831|0.0:0.0:0.7168:0.2831	.|.	.|.	.|.	.|.	V|X	73|194;41;170;41;41;170	.|.	.|ENSP00000327294:R41X	A|R	-|-	2|1	0|2	SHOX2|SHOX2;AC112502.1	159303208|159303208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.608000|1.608000	0.36847|0.36847	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.597	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			23	246	0	0	0	0	23	246				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605682	159605682	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:159605682C>T	ENST00000460298.1	+	5	1303	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	SCHIP1_ENST00000445224.2_Silent_p.P151P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P381P|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.P394P|SCHIP1_ENST00000482804.1_Silent_p.P167P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P470P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P162P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P443P					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAAAGTCTCCCGTCGCTGATC	0.458																																						uc003fcs.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1180-1182)CCC>CCT		schwannomin interacting protein 1							42.0	44.0	43.0					3																	159605682		2202	4300	6502	SO:0001819	synonymous_variant	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159605682C>T		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1062C>T	3.37:g.159605682C>T						SCHIP1_uc003fcq.1_Silent_p.P470P|SCHIP1_uc003fcr.1_Silent_p.P383P|SCHIP1_uc003fct.1_Silent_p.P381P|SCHIP1_uc010hvz.1_Silent_p.P354P|SCHIP1_uc003fcu.1_Silent_p.P151P|SCHIP1_uc003fcv.1_Silent_p.P167P	p.P394P	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	1248	+			394						Silent	SNP	ENST00000460298.1	37	c.1182C>T																																																																																					0.458	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		21	97	0	0	0	0	21	97				
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169540507G>A	ENST00000340806.6	+	1	798	c.798G>A	c.(796-798)ggG>ggA	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612																																						uc003fgb.2		NA																	0					0						c.(796-798)GGG>GGA		leucine-rich repeats and IQ motif containing 4							33.0	37.0	36.0					3																	169540507		2049	4182	6231	SO:0001819	synonymous_variant	344657							g.chr3:169540507G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.798G>A	3.37:g.169540507G>A							p.G266G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	798	+			266			LRR 11.			Silent	SNP	ENST00000340806.6	37	c.798G>A	CCDS46951.1																																																																																				0.612	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		7	114	0	0	0	0	7	114				
PHC3	80012	broad.mit.edu	37	3	169840414	169840414	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169840414C>G	ENST00000494943.1	-	9	1939	c.1871G>C	c.(1870-1872)aGa>aCa	p.R624T	PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.2_Missense_Mutation_p.R636T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	624	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTTCTCCTCTCCCCACTGT	0.398																																						uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1870-1872)AGA>ACA		polyhomeotic like 3							122.0	117.0	119.0					3																	169840414		1879	4110	5989	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169840414C>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1871G>C	3.37:g.169840414C>G	ENSP00000420271:p.Arg624Thr					PHC3_uc003fgl.2_Missense_Mutation_p.R636T|PHC3_uc011bpq.1_Missense_Mutation_p.R583T	p.R624T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		9	1935	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		624			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1871G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.72|14.72	2.619959|2.619959	0.46736|0.46736	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000486042|ENST00000494943;ENST00000495893;ENST00000467570	.|T;T	.|0.30448	.|1.53;1.53	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.148179	.|0.47093	.|D	.|0.000255	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24426	.|0.103;0.035;0.103	.|B;B;B	.|0.28011	.|0.085;0.018;0.04	T|T	0.07121|0.07121	-1.0789|-1.0789	5|10	.|0.12430	.|T	.|0.62	-12.3681|-12.3681	12.7072|12.7072	0.57067|0.57067	0.0:0.918:0.0:0.082|0.0:0.918:0.0:0.082	.|.	.|583;624;636	.|E7EX82;Q8NDX5;Q8NDX5-7	.|.;PHC3_HUMAN;.	D|T	97|624;636;583	.|ENSP00000420271:R624T;ENSP00000420294:R636T	.|ENSP00000419089:R583T	E|R	-|-	3|2	2|0	PHC3|PHC3	171323108|171323108	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	2.743000|2.743000	0.47442|0.47442	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.398	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		10	202	0	0	0	0	10	202				
N4BP2	55728	broad.mit.edu	37	4	40122594	40122594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:40122594G>A	ENST00000261435.6	+	9	3279	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	955					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGCTCAGTGAAATGACCTG	0.438																																						uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2863-2865)GAA>AAA		Nedd4 binding protein 2							77.0	76.0	76.0					4																	40122594		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122594G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2863G>A	4.37:g.40122594G>A	ENSP00000261435:p.Glu955Lys					N4BP2_uc010ifq.2_Missense_Mutation_p.E875K|N4BP2_uc010ifr.2_Missense_Mutation_p.E875K	p.E955K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3201	+			955					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2863G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	7.146	0.582750	0.13749	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.25912	1.77	5.62	2.96	0.34315	.	0.712116	0.13525	N	0.381349	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.13145	0.005;0.007	B;B	0.11329	0.006;0.004	T	0.20273	-1.0280	10	0.49607	T	0.09	-4.9338	9.013	0.36153	0.1337:0.1229:0.7434:0.0	.	955;955	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	K	955;875	ENSP00000261435:E955K	ENSP00000261435:E955K	E	+	1	0	N4BP2	39798989	1.000000	0.71417	0.005000	0.12908	0.167000	0.22549	2.451000	0.44952	0.408000	0.25621	0.655000	0.94253	GAA		0.438	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		28	36	0	0	0	0	28	36				
ADAMTS3	9508	broad.mit.edu	37	4	73149358	73149358	+	Missense_Mutation	SNP	G	G	A	rs201524333		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:73149358G>A	ENST00000286657.4	-	22	3149	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1038	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTGGTATGGAGCAGTATCG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.0		0.001	False		,,,				2504	0.0				NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(3112-3114)TCC>TTC		ADAM metallopeptidase with thrombospondin type 1		G	PHE/SER	0,4406		0,0,2203	111.0	105.0	107.0		3113	5.3	1.0	4		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADAMTS3	NM_014243.2	155	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1038/1206	73149358	2,13004	2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149358G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3113C>T	4.37:g.73149358G>A	ENSP00000286657:p.Ser1038Phe						p.S1038F	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3150	-			1038			PLAC.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3113C>T	CCDS3553.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.83	3.486248	0.63962	0.0	2.33E-4	ENSG00000156140	ENST00000286657	T	0.64085	-0.08	5.35	5.35	0.76521	PLAC (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.53249	1.67	0.80722	D	1	B	0.32382	0.368	B	0.39068	0.289	T	0.64101	-0.6486	10	0.42905	T	0.14	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	1038	O15072	ATS3_HUMAN	F	1038	ENSP00000286657:S1038F	ENSP00000286657:S1038F	S	-	2	0	ADAMTS3	73368222	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.869000	0.99810	2.506000	0.84524	0.591000	0.81541	TCC		0.418	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			7	116	0	0	0	0	7	116				
IL2	3558	broad.mit.edu	37	4	123377563	123377563	+	Silent	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:123377563T>C	ENST00000226730.4	-	1	317	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	11					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	CAAGACTTAGTGCAATGCAAG	0.413			T	TNFRSF17	intestinal T-cell lymphoma																																	uc003ier.2		NA		Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				skin(1)	1						c.(31-33)GCA>GCG		interleukin 2 precursor							141.0	132.0	135.0					4																	123377563		2203	4300	6503	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123377563T>C	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.33A>G	4.37:g.123377563T>C							p.A11A	NM_000586	NP_000577	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	1	88	-			11					P01585	Silent	SNP	ENST00000226730.4	37	c.33A>G	CCDS3726.1																																																																																				0.413	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			39	22	0	0	0	0	39	22				
F11	2160	broad.mit.edu	37	4	187205256	187205256	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:187205256C>T	ENST00000403665.2	+	11	1498	c.1146C>T	c.(1144-1146)acC>acT	p.T382T	F11_ENST00000264692.4_Silent_p.T330T|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	382					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGTACCACCAAAATCAAGC	0.502																																						uc003iza.1		NA																	0					0						c.(1144-1146)ACC>ACT		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						155.0	139.0	144.0					4																	187205256		2203	4300	6503	SO:0001819	synonymous_variant	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187205256C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1146C>T	4.37:g.187205256C>T							p.T382T	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	11	1479	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	382					D3DP64|Q4W5C2|Q9Y495	Silent	SNP	ENST00000403665.2	37	c.1146C>T	CCDS3847.1																																																																																				0.502	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			32	27	0	0	0	0	32	27				
SLC6A3	6531	broad.mit.edu	37	5	1416215	1416215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:1416215G>T	ENST00000270349.9	-	7	1156	c.1029C>A	c.(1027-1029)taC>taA	p.Y343*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	343					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGGCTCACCTGTAGCAGTTGT	0.587																																						uc003jck.2		NA																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(1027-1029)TAC>TAA		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						84.0	75.0	78.0					5																	1416215		2203	4300	6503	SO:0001587	stop_gained	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1416215G>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1029C>A	5.37:g.1416215G>T	ENSP00000270349:p.Tyr343*						p.Y343*	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		7	1150	-			343					A2RUN4|Q14996	Nonsense_Mutation	SNP	ENST00000270349.9	37	c.1029C>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368820	0.95900	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	.	.	.	3.88	-1.23	0.09465	.	0.168455	0.45867	D	0.000324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3804	0.32468	0.7664:0.0:0.2336:0.0	.	.	.	.	X	343;343;269	.	ENSP00000270349:Y343X	Y	-	3	2	SLC6A3	1469215	0.997000	0.39634	0.840000	0.33206	0.822000	0.46500	0.326000	0.19646	-0.177000	0.10690	0.561000	0.74099	TAC		0.587	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		14	57	1	0	1.05e-09	1.17e-09	14	57				
FAM173B	134145	broad.mit.edu	37	5	10239377	10239377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:10239377C>T	ENST00000511437.1	-	2	120	c.108G>A	c.(106-108)tgG>tgA	p.W36*	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36*	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	36						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGAACCCCCAGTTGCTTT	0.478																																						uc003jeo.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(106-108)TGG>TGA		hypothetical protein LOC134145							104.0	110.0	108.0					5																	10239377		1949	4139	6088	SO:0001587	stop_gained	134145					integral to membrane		g.chr5:10239377C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.108G>A	5.37:g.10239377C>T	ENSP00000422338:p.Trp36*					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Nonsense_Mutation_p.W36*	p.W36*	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			2	137	-			36					B4DT41|B4DXK2|E9PBZ4	Nonsense_Mutation	SNP	ENST00000511437.1	37	c.108G>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679845	0.88542	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	.	.	.	5.19	5.19	0.71726	.	0.220288	0.41396	D	0.000883	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-19.4077	17.7316	0.88379	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000424210:W36X	W	-	3	0	FAM173B	10292377	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	5.983000	0.70540	2.430000	0.82344	0.655000	0.94253	TGG		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		60	109	0	0	0	0	60	109				
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617																																						uc003jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1282-1284)GTC>ATC		catenin (cadherin-associated protein), delta 2		C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	50.0	54.0	53.0		1282	4.6	1.0	5	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CTNND2	NM_001332.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	428/1226	11364898	4,13002	2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364898C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1282G>A	5.37:g.11364898C>T	ENSP00000307134:p.Val428Ile					CTNND2_uc010itt.2_Missense_Mutation_p.V337I|CTNND2_uc011cmy.1_Missense_Mutation_p.V91I|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	p.V428I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			8	1427	-			428			ARM 1.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1282G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977602	0.92982	6.81E-4	1.16E-4	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.78707	-1.08;-1.15;-1.09;-1.2	5.47	4.6	0.57074	.	0.086833	0.45361	N	0.000371	D	0.84129	0.5404	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72982	0.959;0.979	D	0.85369	0.1112	10	0.66056	D	0.02	-16.9562	13.9713	0.64242	0.0:0.9272:0.0:0.0728	.	91;428	B4DRK2;Q9UQB3	.;CTND2_HUMAN	I	428;428;337;91;168	ENSP00000307134:V428I;ENSP00000352661:V428I;ENSP00000426510:V337I;ENSP00000426887:V91I	ENSP00000307134:V428I	V	-	1	0	CTNND2	11417898	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.748000	0.68697	1.313000	0.45069	0.655000	0.94253	GTC		0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		15	59	0	0	0	0	15	59				
DNAH5	1767	broad.mit.edu	37	5	13830755	13830755	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:13830755G>A	ENST00000265104.4	-	36	6116	c.6012C>T	c.(6010-6012)ttC>ttT	p.F2004F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2004	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAACAATTGAAAACCACGA	0.473									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6010-6012)TTC>TTT		dynein, axonemal, heavy chain 5							131.0	128.0	129.0					5																	13830755		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13830755G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6012C>T	5.37:g.13830755G>A							p.F2004F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			36	6054	-	Lung NSC(4;0.00476)		2004			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.6012C>T	CCDS3882.1																																																																																				0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		19	104	0	0	0	0	19	104				
UGT3A2	167127	broad.mit.edu	37	5	36049095	36049095	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36049095A>G	ENST00000282507.3	-	4	840	c.739T>C	c.(739-741)Tgg>Cgg	p.W247R	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	247					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATGAACCACAACTCTGCT	0.428																																						uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(739-741)TGG>CGG		UDP glycosyltransferase 3 family, polypeptide A2							151.0	148.0	149.0					5																	36049095		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049095A>G		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.739T>C	5.37:g.36049095A>G	ENSP00000282507:p.Trp247Arg					UGT3A2_uc011cos.1_Missense_Mutation_p.W213R|UGT3A2_uc011cot.1_Intron	p.W247R	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	832	-	all_lung(31;0.000179)		247			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.739T>C	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.498212	0.64186	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61859	0.07;0.07	3.45	3.45	0.39498	.	0.000000	0.64402	D	0.000002	T	0.81654	0.4868	H	0.96691	3.865	0.80722	D	1	D;D	0.65815	0.995;0.993	D;D	0.68943	0.961;0.954	D	0.86923	0.2068	10	0.87932	D	0	.	11.8643	0.52484	1.0:0.0:0.0:0.0	.	213;247	E9PFK7;Q3SY77	.;UD3A2_HUMAN	R	247;213	ENSP00000282507:W247R;ENSP00000427404:W213R	ENSP00000282507:W247R	W	-	1	0	UGT3A2	36084852	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	5.389000	0.66255	1.819000	0.53055	0.533000	0.62120	TGG		0.428	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		66	77	0	0	0	0	66	77				
LMBRD2	92255	broad.mit.edu	37	5	36111350	36111350	+	Missense_Mutation	SNP	G	G	A	rs183850401		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36111350G>A	ENST00000296603.4	-	14	2113	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	551						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAACAACGGGTTCCCAAA	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17396	0.0		0.0	False		,,,				2504	0.0					uc003jkb.1		NA																	0					0						c.(1651-1653)CGT>TGT		LMBR1 domain containing 2							41.0	40.0	40.0					5																	36111350		2199	4299	6498	SO:0001583	missense	92255					integral to membrane		g.chr5:36111350G>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1651C>T	5.37:g.36111350G>A	ENSP00000296603:p.Arg551Cys						p.R551C	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	2066	-	all_lung(31;0.000146)		551			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.1651C>T	CCDS34145.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.9	4.958407	0.92726	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86116	0.1565	9	0.87932	D	0	-10.3784	19.2896	0.94093	0.0:0.0:1.0:0.0	.	551	Q68DH5	LMBD2_HUMAN	C	551;445	.	ENSP00000296603:R551C	R	-	1	0	LMBRD2	36147107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.376000	0.79658	2.563000	0.86464	0.585000	0.79938	CGT		0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		16	36	0	0	0	0	16	36				
PCDHA2	56146	broad.mit.edu	37	5	140176624	140176624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140176624C>T	ENST00000526136.1	+	1	2075	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	692					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)	p.T692M(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGCTACGCTGGTGGAT	0.647																																						uc003lhd.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)	4						c.(2074-2076)ACG>ATG		protocadherin alpha 2 isoform 1 precursor							81.0	81.0	81.0					5																	140176624		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176624C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2075C>T	5.37:g.140176624C>T	ENSP00000431748:p.Thr692Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T692M|PCDHA2_uc011czy.1_Missense_Mutation_p.T692M	p.T692M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2181	+			692			Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2075C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.414616	0.42817	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.69;0.63;0.66	3.96	2.14	0.27477	.	0.563798	0.13024	U	0.419845	T	0.35508	0.0934	N	0.25647	0.755	0.09310	N	1	P;B;P	0.45594	0.755;0.211;0.862	B;B;B	0.43360	0.299;0.048;0.417	T	0.13388	-1.0511	10	0.62326	D	0.03	.	7.3937	0.26923	0.0:0.7181:0.0:0.2819	.	692;692;692	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	692	ENSP00000430584:T692M;ENSP00000367372:T692M;ENSP00000431748:T692M	ENSP00000367372:T692M	T	+	2	0	PCDHA2	140156808	0.000000	0.05858	0.028000	0.17463	0.180000	0.23129	-0.458000	0.06737	0.282000	0.22254	0.580000	0.79431	ACG		0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		41	97	0	0	0	0	41	97				
PCDHA7	56141	broad.mit.edu	37	5	140215817	140215817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140215817G>A	ENST00000525929.1	+	1	1849	c.1849G>A	c.(1849-1851)Ggt>Agt	p.G617S	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCCGGTGCGAGCAT	0.642																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1849-1851)GGT>AGT		protocadherin alpha 7 isoform 1 precursor							107.0	104.0	105.0					5																	140215817		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215817G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1849G>A	5.37:g.140215817G>A	ENSP00000436426:p.Gly617Ser					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_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.G617S	p.G617S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1849	+			617			Cadherin 6.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1849G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	0.367	-0.936099	0.02340	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.42131	0.98;0.98	3.67	0.819	0.18785	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18299	0.0439	N	0.04959	-0.14	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.15484	0.013;0.008	T	0.27331	-1.0077	9	0.05959	T	0.93	.	10.389	0.44158	0.2347:0.0:0.7653:0.0	.	617;617	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	617	ENSP00000436426:G617S;ENSP00000367365:G617S	ENSP00000367365:G617S	G	+	1	0	PCDHA7	140196001	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.598000	0.05706	-0.201000	0.10284	-1.587000	0.00848	GGT		0.642	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		28	41	0	0	0	0	28	41				
PCDHB1	29930	broad.mit.edu	37	5	140431883	140431883	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140431883G>T	ENST00000306549.3	+	1	905	c.828G>T	c.(826-828)gcG>gcT	p.A276A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACAAAGCGATAACTTACT	0.507																																						uc003lik.1		NA																	0					0						c.(826-828)GCG>GCT		protocadherin beta 1 precursor							67.0	66.0	66.0					5																	140431883		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431883G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.828G>T	5.37:g.140431883G>T							p.A276A	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	905	+			276			Cadherin 3.|Extracellular (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.828G>T	CCDS4243.1																																																																																				0.507	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		7	31	1	0	0.00198382	0.00207331	7	31				
PCDHB7	56129	broad.mit.edu	37	5	140554402	140554402	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140554402G>T	ENST00000231137.3	+	1	2160	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.701																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1984-1986)CTG>CTT		protocadherin beta 7 precursor							39.0	61.0	53.0					5																	140554402		2175	4274	6449	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554402G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1986G>T	5.37:g.140554402G>T							p.L662L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2160	+			662			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1986G>T	CCDS4249.1																																																																																				0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		15	54	1	0	1.34e-09	1.49e-09	15	54				
PCDHB12	56124	broad.mit.edu	37	5	140590512	140590512	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140590512C>T	ENST00000239450.2	+	1	2222	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	678					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGCCCAGGCC	0.692																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(2032-2034)CCG>CTG		protocadherin beta 12 precursor							52.0	58.0	56.0					5																	140590512		2187	4266	6453	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590512C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2033C>T	5.37:g.140590512C>T	ENSP00000239450:p.Pro678Leu					PCDHB12_uc011dak.1_Missense_Mutation_p.P341L|PCDHB13_uc003lja.1_5'Flank	p.P678L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2222	+			678			Extracellular (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2033C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	c	10.87	1.471301	0.26423	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.54279	0.58;0.72	2.22	-0.878	0.10617	.	.	.	.	.	T	0.45034	0.1322	M	0.72894	2.215	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43589	-0.9382	9	0.49607	T	0.09	.	3.1467	0.06474	0.4285:0.4212:0.0:0.1504	.	678	Q9Y5F1	PCDBC_HUMAN	L	341;678;298	ENSP00000440199:P341L;ENSP00000239450:P678L	ENSP00000239450:P678L	P	+	2	0	PCDHB12	140570696	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	-0.228000	0.09114	-0.231000	0.09825	0.479000	0.44913	CCG		0.692	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		11	148	0	0	0	0	11	148				
FNDC9	408263	broad.mit.edu	37	5	156770492	156770492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:156770492G>T	ENST00000312349.4	-	2	240	c.53C>A	c.(52-54)tCg>tAg	p.S18*	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCCGAGGACGACCAGGAGAT	0.498																																						uc003lwu.2		NA																	0					0						c.(52-54)TCG>TAG		hypothetical protein LOC408263							64.0	63.0	63.0					5																	156770492		2203	4300	6503	SO:0001587	stop_gained	408263					integral to membrane		g.chr5:156770492G>T	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.53C>A	5.37:g.156770492G>T	ENSP00000310594:p.Ser18*					CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	p.S18*	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	241	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	18			Fibronectin type-III.		A8K0Y6	Nonsense_Mutation	SNP	ENST00000312349.4	37	c.53C>A	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429693	0.96131	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	.	.	.	5.19	4.31	0.51392	.	0.429601	0.20304	N	0.094964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7473	14.1421	0.65327	0.0:0.0:0.8489:0.1511	.	.	.	.	X	18	.	ENSP00000310594:S18X	S	-	2	0	FNDC9	156703070	0.999000	0.42202	0.970000	0.41538	0.917000	0.54804	6.838000	0.75359	1.156000	0.42514	0.491000	0.48974	TCG		0.498	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		16	42	1	0	3.57e-18	4.14e-18	16	42				
SH3PXD2B	285590	broad.mit.edu	37	5	171849445	171849445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:171849445C>T	ENST00000311601.5	-	2	301	c.131G>A	c.(130-132)cGc>cAc	p.R44H	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	44	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGTAGCGCCGGTAAAT	0.517																																						uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(130-132)CGC>CAC		SH3 and PX domains 2B							42.0	40.0	41.0					5																	171849445		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171849445C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.131G>A	5.37:g.171849445C>T	ENSP00000309714:p.Arg44His					SH3PXD2B_uc003mbs.1_Missense_Mutation_p.R44H	p.R44H	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	302	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	44			PX.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.131G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254540	0.80135	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.77620	-1.11;-1.11	4.23	4.23	0.50019	Phox homologous domain (5);	0.000000	0.64402	D	0.000004	D	0.89357	0.6692	M	0.91768	3.24	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	D	0.91197	0.4988	10	0.87932	D	0	-16.7341	11.9878	0.53157	0.0:1.0:0.0:0.0	.	44	A1X283	SPD2B_HUMAN	H	44	ENSP00000430890:R44H;ENSP00000309714:R44H	ENSP00000309714:R44H	R	-	2	0	SH3PXD2B	171782050	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.522000	0.60539	2.181000	0.69327	0.462000	0.41574	CGC		0.517	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		6	11	0	0	0	0	6	11				
IRF4	3662	broad.mit.edu	37	6	407576	407576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:407576G>A	ENST00000380956.4	+	9	1460	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	445					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGATCTATCCGCCATTCCTCT	0.373			T	IGH@	MM																																	uc003msz.3		NA		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(1333-1335)CGC>CAC		interferon regulatory factor 4							78.0	78.0	78.0					6																	407576		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407576G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1334G>A	6.37:g.407576G>A	ENSP00000370343:p.Arg445His					IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.R444H	p.R445H	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1447	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	445					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1334G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308389	0.60305	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97279	-4.32	5.51	5.51	0.81932	SMAD domain-like (1);SMAD/FHA domain (1);	0.745300	0.13310	N	0.397547	D	0.90724	0.7089	N	0.19112	0.55	0.48288	D	0.999622	B;B	0.15930	0.015;0.014	B;B	0.06405	0.002;0.001	D	0.85790	0.1367	10	0.54805	T	0.06	-32.4894	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	444;445	Q15306-2;Q15306	.;IRF4_HUMAN	H	445;474	ENSP00000370343:R445H	ENSP00000370343:R445H	R	+	2	0	IRF4	352576	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	5.049000	0.64244	2.600000	0.87896	0.655000	0.94253	CGC		0.373	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			21	49	0	0	0	0	21	49				
F13A1	2162	broad.mit.edu	37	6	6266932	6266932	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:6266932G>T	ENST00000264870.3	-	4	695	c.430C>A	c.(430-432)Cgg>Agg	p.R144R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512																																						uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(430-432)CGG>AGG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						133.0	122.0	126.0					6																	6266932		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266932G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.430C>A	6.37:g.6266932G>T						F13A1_uc011dib.1_Silent_p.R81R	p.R144R	NM_000129	NP_000120	P00488	F13A_HUMAN			4	553	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	144					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.430C>A	CCDS4496.1																																																																																				0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	43	1	0	3.99e-14	4.51e-14	20	43				
DNAH8	1769	broad.mit.edu	37	6	38951989	38951989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:38951989C>T	ENST00000359357.3	+	85	12562	c.12308C>T	c.(12307-12309)tCa>tTa	p.S4103L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4103					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGGTGTATCATGGAATACG	0.373																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12307-12309)TCA>TTA		dynein, axonemal, heavy polypeptide 8							114.0	111.0	112.0					6																	38951989		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38951989C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12308C>T	6.37:g.38951989C>T	ENSP00000352312:p.Ser4103Leu					DNAH8_uc003oog.1_Missense_Mutation_p.S552L	p.S4103L	NM_001371	NP_001362					85	12908	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12308C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.314411	0.97467	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08634	3.07;3.07;3.07	6.02	6.02	0.97574	Dynein heavy chain (1);	0.162430	0.41500	D	0.000878	T	0.32406	0.0828	H	0.94658	3.565	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.58620	0.755;0.842	T	0.44159	-0.9346	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	4067;4103	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	L	4308;4103;4067	ENSP00000333363:S4308L;ENSP00000352312:S4103L;ENSP00000402294:S4067L	ENSP00000333363:S4308L	S	+	2	0	DNAH8	39059967	1.000000	0.71417	0.358000	0.25811	0.680000	0.39746	5.884000	0.69729	2.865000	0.98341	0.655000	0.94253	TCA		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	45	0	0	0	0	11	45				
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438																																						uc003snk.2		NA																	0				ovary(1)	1						c.(379-381)CGA>CAA		poly(A) polymerase beta (testis specific)							78.0	79.0	78.0					7																	4901062		2104	4261	6365	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901062C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.377G>A	7.37:g.4901062C>T	ENSP00000384700:p.Arg126Gln					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.R127Q	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	564	-		Ovarian(82;0.0175)	126					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.380G>A		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292257	0.40594	.	.	ENSG00000218823	ENST00000404991	.	.	.	3.89	3.01	0.34805	.	.	.	.	.	T	0.82250	0.4996	H	0.94808	3.585	0.40607	D	0.981635	D	0.89917	1.0	D	0.97110	1.0	D	0.85324	0.1086	8	0.87932	D	0	.	9.7494	0.40466	0.0:0.8957:0.0:0.1043	.	127	A4D1Z6	.	Q	126	.	ENSP00000384700:R126Q	R	-	2	0	PAPOLB	4867588	1.000000	0.71417	0.014000	0.15608	0.098000	0.18820	5.769000	0.68865	1.240000	0.43803	0.585000	0.79938	CGA		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		13	36	0	0	0	0	13	36				
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A	rs371803371		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423																																						uc003srv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(73-75)ACG>ACA		neurexophilin 1 precursor							107.0	102.0	104.0					7																	8790658		1941	4137	6078	SO:0001819	synonymous_variant	30010					extracellular region		g.chr7:8790658G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.75G>A	7.37:g.8790658G>A						NXPH1_uc011jxh.1_5'UTR	p.T25T	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	986	+		Ovarian(82;0.0628)	25			II.		Q8NB31	Silent	SNP	ENST00000405863.1	37	c.75G>A	CCDS47540.1																																																																																				0.423	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		69	71	0	0	0	0	69	71				
DNAH11	8701	broad.mit.edu	37	7	21730399	21730399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:21730399G>A	ENST00000409508.3	+	35	5972	c.5941G>A	c.(5941-5943)Gaa>Aaa	p.E1981K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1988K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTCTTGGGGAAGCTATCAC	0.363									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5962-5964)GAA>AAA		dynein, axonemal, heavy chain 11							167.0	159.0	162.0					7																	21730399		1829	4090	5919	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21730399G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5941G>A	7.37:g.21730399G>A	ENSP00000475939:p.Glu1981Lys						p.E1988K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			36	5993	+			1988			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5962G>A		.	.	.	.	.	.	.	.	.	.	G	28.4	4.916736	0.92249	.	.	ENSG00000105877	ENST00000328843	T	0.13778	2.56	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.048574	0.85682	D	0.000000	T	0.19327	0.0464	.	.	.	0.58432	D	0.999999	P	0.44139	0.827	B	0.42827	0.399	T	0.00180	-1.1948	9	0.36615	T	0.2	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	1988	Q96DT5	DYH11_HUMAN	K	1988	ENSP00000330671:E1988K	ENSP00000330671:E1988K	E	+	1	0	DNAH11	21696924	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.635000	0.61332	2.941000	0.99782	0.655000	0.94253	GAA		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		48	194	0	0	0	0	48	194				
TRA2A	29896	broad.mit.edu	37	7	23561437	23561437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:23561437G>T	ENST00000297071.4	-	2	275	c.59C>A	c.(58-60)tCt>tAt	p.S20Y	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	20					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCCCGTTGGAGATTTTGACTG	0.433																																					Pancreas(121;2137 2973 46590)	uc003swi.2		NA																	0				ovary(1)	1						c.(58-60)TCT>TAT		transformer-2 alpha							82.0	76.0	78.0					7																	23561437		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561437G>T	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.59C>A	7.37:g.23561437G>T	ENSP00000297071:p.Ser20Tyr					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	p.S20Y	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			2	273	-			20					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.59C>A	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523635	0.64747	.	.	ENSG00000164548	ENST00000297071	T	0.35973	1.28	5.71	5.71	0.89125	.	0.112988	0.64402	D	0.000007	T	0.44603	0.1301	L	0.54323	1.7	0.80722	D	1	P	0.50819	0.939	P	0.45881	0.496	T	0.44174	-0.9345	10	0.87932	D	0	-7.4374	19.9068	0.97010	0.0:0.0:1.0:0.0	.	20	Q13595	TRA2A_HUMAN	Y	20	ENSP00000297071:S20Y	ENSP00000297071:S20Y	S	-	2	0	TRA2A	23527962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.718000	0.92993	0.585000	0.79938	TCT		0.433	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		17	89	1	0	5.39e-06	5.82e-06	17	89				
ZNF713	349075	broad.mit.edu	37	7	56007358	56007358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56007358C>T	ENST00000429591.2	+	4	990	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCTTTACTCAACATCTGAG	0.398																																						uc003trc.1		NA																	0				ovary(2)	2						c.(952-954)CAA>TAA		zinc finger protein 713							94.0	100.0	98.0					7																	56007358		2203	4300	6503	SO:0001587	stop_gained	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007358C>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.952C>T	7.37:g.56007358C>T	ENSP00000416662:p.Gln318*					ZNF713_uc003tra.1_Nonsense_Mutation_p.Q331*|MRPS17_uc003trb.2_Intron	p.Q318*	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	990	+	Breast(14;0.214)		318			C2H2-type 2.			Nonsense_Mutation	SNP	ENST00000429591.2	37	c.952C>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370394	0.24771	.	.	ENSG00000178665	ENST00000429591	.	.	.	3.26	2.37	0.29283	.	0.000000	0.37955	N	0.001866	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.4941	0.33117	0.0:0.8804:0.0:0.1196	.	.	.	.	X	318	.	ENSP00000416662:Q318X	Q	+	1	0	ZNF713	55974852	0.000000	0.05858	0.999000	0.59377	0.225000	0.24961	-1.046000	0.03525	0.945000	0.37605	0.467000	0.42956	CAA		0.398	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		39	147	0	0	0	0	39	147				
CCT6A	908	broad.mit.edu	37	7	56120139	56120139	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56120139C>T	ENST00000275603.4	+	2	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CCT6A_ENST00000335503.3_Silent_p.I54I|PSPH_ENST00000395471.3_5'Flank|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Silent_p.I23I|PSPH_ENST00000275605.3_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	54					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGAGACATCAAACTTACTA	0.423																																						uc003trl.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(160-162)ATC>ATT		chaperonin containing TCP1, subunit 6A isoform							123.0	124.0	123.0					7																	56120139		2203	4300	6503	SO:0001819	synonymous_variant	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56120139C>T	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.162C>T	7.37:g.56120139C>T						PSPH_uc003trh.2_5'Flank|PSPH_uc003tri.2_5'Flank|PSPH_uc003trj.2_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Silent_p.I54I|CCT6A_uc011kcu.1_Silent_p.I23I	p.I54I	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	326	+	Breast(14;0.214)		54					A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	ENST00000275603.4	37	c.162C>T	CCDS5523.1																																																																																				0.423	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		48	88	0	0	0	0	48	88				
Unknown	0	broad.mit.edu	37	7	63679804	63679804	+	IGR	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:63679804A>T								GUSBP6 (68705 upstream) : ZNF679 (9047 downstream)																							ATTTACAATTAAAAAAATGTT	0.333																																						uc011kdn.1		NA																	0					0						c.(373-375)TTA>TTT		zinc finger protein 735							40.0	32.0	34.0					7																	63679804		692	1586	2278	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63679804A>T																													7.37:g.63679804A>T							p.L125F	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	375	+			125						Missense_Mutation	SNP		37	c.375A>T																																																																																				0	0.333									29	44	0	0	0	0	29	44				
ELN	2006	broad.mit.edu	37	7	73477973	73477973	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:73477973C>T	ENST00000252034.7	+	29	2340	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000380575.4_Silent_p.L618L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000429192.1_Silent_p.L633L|ELN_ENST00000380562.4_Silent_p.L653L|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.L647L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000320492.7_Silent_p.L566L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCGCTGGGCTCGGAGGACTCG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1957-1959)CTC>CTT		elastin isoform a precursor	Rofecoxib(DB00533)						128.0	114.0	119.0					7																	73477973		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73477973C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1941C>T	7.37:g.73477973C>T						RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.L647L|ELN_uc003tzz.2_Silent_p.L566L|ELN_uc003tzo.2_Silent_p.L599L|ELN_uc003tzp.2_Silent_p.L558L|ELN_uc003tzq.2_Silent_p.L511L|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.L628L|ELN_uc003tzt.2_Silent_p.L652L|ELN_uc003tzu.2_Silent_p.L633L|ELN_uc003tzv.2_Silent_p.L618L|ELN_uc003tzx.2_Silent_p.L637L|ELN_uc011kff.1_Silent_p.L647L|ELN_uc003tzy.2_Silent_p.L623L	p.L653L	NM_000501	NP_001075224	P15502	ELN_HUMAN			29	2050	+		Lung NSC(55;0.159)	709			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1959C>T	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		58	86	0	0	0	0	58	86				
CACNA2D1	781	broad.mit.edu	37	7	81620503	81620503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:81620503G>C	ENST00000356253.5	-	22	2106	c.1851C>G	c.(1849-1851)taC>taG	p.Y617*	CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.Y598*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	617					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTAATTACCTGTAATCTGTGC	0.308																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1792-1794)TAC>TAG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						138.0	119.0	126.0					7																	81620503		2202	4293	6495	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81620503G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1851C>G	7.37:g.81620503G>C	ENSP00000348589:p.Tyr617*						p.Y598*	NM_000722	NP_000713	P54289	CA2D1_HUMAN			21	2050	-			617			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.1794C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.923973|8.923973	0.99004|0.99004	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|.	.|.	.|.	5.93|5.93	4.07|4.07	0.47477|0.47477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.44582|.	0.1300|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16424|.	-1.0403|.	4|.	.|0.07813	.|T	.|0.8	-24.5594|-24.5594	11.6571|11.6571	0.51324|0.51324	0.1494:0.0:0.8506:0.0|0.1494:0.0:0.8506:0.0	.|.	.|.	.|.	.|.	R|X	116|598;617;617	.|.	.|ENSP00000284088:Y617X	T|Y	-|-	2|3	0|2	CACNA2D1|CACNA2D1	81458439|81458439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.533000|7.533000	0.81994|0.81994	0.775000|0.775000	0.33450|0.33450	-0.150000|-0.150000	0.13652|0.13652	ACA|TAC		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				17	32	0	0	0	0	17	32				
DNAJB9	4189	broad.mit.edu	37	7	108213555	108213555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:108213555C>T	ENST00000249356.3	+	3	976	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.R144C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTCCAGACACGCCAGGATGG	0.348																																						uc003vfn.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(430-432)CGC>TGC		DnaJ (Hsp40) homolog, subfamily B, member 9							113.0	112.0	112.0					7																	108213555		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213555C>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.430C>T	7.37:g.108213555C>T	ENSP00000249356:p.Arg144Cys						p.R144C	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			3	632	+			144						Missense_Mutation	SNP	ENST00000249356.3	37	c.430C>T	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934572	0.52866	.	.	ENSG00000128590	ENST00000249356	T	0.62941	-0.01	5.86	4.99	0.66335	.	0.142335	0.64402	D	0.000005	T	0.51415	0.1673	L	0.36672	1.1	0.45464	D	0.998434	B	0.06786	0.001	B	0.01281	0.0	T	0.44097	-0.9350	9	.	.	.	.	14.367	0.66812	0.0:0.9292:0.0:0.0708	.	144	Q9UBS3	DNJB9_HUMAN	C	144	ENSP00000249356:R144C	.	R	+	1	0	DNAJB9	108000791	1.000000	0.71417	0.878000	0.34440	0.973000	0.67179	4.667000	0.61561	1.489000	0.48450	0.655000	0.94253	CGC		0.348	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			21	62	0	0	0	0	21	62				
FEZF1	389549	broad.mit.edu	37	7	121943848	121943848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:121943848C>G	ENST00000442488.2	-	1	711	c.644G>C	c.(643-645)gGa>gCa	p.G215A	FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	215					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAGCTACTCCAGAAGGGTA	0.507																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(643-645)GGA>GCA		FEZ family zinc finger 1 isoform 1							62.0	68.0	66.0					7																	121943848		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943848C>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.644G>C	7.37:g.121943848C>G	ENSP00000411145:p.Gly215Ala					FEZF1_uc003vkc.2_Missense_Mutation_p.G165A|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.G215A	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	718	-			215					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.644G>C	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624654	0.28889	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.06528	3.29;3.44;3.33	5.24	5.24	0.73138	.	0.169194	0.50627	D	0.000110	T	0.06005	0.0156	N	0.24115	0.695	0.42876	D	0.994152	P;P	0.50156	0.888;0.932	B;P	0.45343	0.285;0.477	T	0.41752	-0.9491	10	0.07175	T	0.84	-9.8464	15.5445	0.76086	0.0:0.8617:0.1383:0.0	.	215;165	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	A	215;215;165	ENSP00000411145:G215A;ENSP00000332777:G215A;ENSP00000392727:G165A	ENSP00000332777:G215A	G	-	2	0	FEZF1	121731084	0.985000	0.35326	0.987000	0.45799	0.756000	0.42949	5.618000	0.67722	2.595000	0.87683	0.555000	0.69702	GGA		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		23	55	0	0	0	0	23	55				
SPAM1	6677	broad.mit.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:123593871G>A	ENST00000439500.1	+	4	860	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000340011.5_Missense_Mutation_p.A83T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGAATAAACGCCACCGGGCA	0.443																																						uc003vld.2		NA																	0				ovary(3)|kidney(1)	4						c.(247-249)GCC>ACC		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						48.0	47.0	47.0					7																	123593871		2203	4299	6502	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593871G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.247G>A	7.37:g.123593871G>A	ENSP00000402123:p.Ala83Thr					SPAM1_uc003vle.2_Missense_Mutation_p.A83T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.A83T|SPAM1_uc010lku.2_Missense_Mutation_p.A83T	p.A83T	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	649	+			83					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.247G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110218	0.37242	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	6.03	-10.3	0.00346	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	2.968830	0.00589	N	0.000344	T	0.19604	0.0471	L	0.57536	1.79	0.09310	N	1	B;P	0.35242	0.275;0.492	B;B	0.33750	0.11;0.169	T	0.08700	-1.0709	9	.	.	.	1.8871	4.5959	0.12329	0.5201:0.0726:0.0973:0.3099	.	83;83	Q8TC30;P38567	.;HYALP_HUMAN	T	83	ENSP00000386028:A83T;ENSP00000417934:A83T;ENSP00000345849:A83T;ENSP00000402123:A83T;ENSP00000223028:A83T	.	A	+	1	0	SPAM1	123381107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.373000	0.07494	-2.605000	0.00448	-0.700000	0.03674	GCC		0.443	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			26	33	0	0	0	0	26	33				
ZNF800	168850	broad.mit.edu	37	7	127014179	127014179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:127014179G>C	ENST00000393313.1	-	5	1802	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404*|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTATTTCTGAACTGTTGGC	0.348																																						uc003vlx.1		NA																	0				ovary(1)	1						c.(1210-1212)TCA>TGA		zinc finger protein 800							87.0	94.0	91.0					7																	127014179		2203	4298	6501	SO:0001587	stop_gained	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014179G>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1211C>G	7.37:g.127014179G>C	ENSP00000376989:p.Ser404*					ZNF800_uc003vlw.1_Nonsense_Mutation_p.S307*|ZNF800_uc003vly.1_Nonsense_Mutation_p.S404*|ZNF800_uc010lla.2_Nonsense_Mutation_p.S404*	p.S404*	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1474	-			404					Q9HBN0	Nonsense_Mutation	SNP	ENST00000393313.1	37	c.1211C>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123136	0.94429	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	.	.	.	5.68	4.79	0.61399	.	0.667620	0.14006	N	0.347820	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6345	14.1564	0.65419	0.0731:0.0:0.9269:0.0	.	.	.	.	X	404	.	.	S	-	2	0	ZNF800	126801415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.165000	0.58196	2.685000	0.91497	0.650000	0.86243	TCA		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		30	64	0	0	0	0	30	64				
WEE2	494551	broad.mit.edu	37	7	141418927	141418927	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141418927A>T	ENST00000397541.2	+	4	1047	c.641A>T	c.(640-642)gAg>gTg	p.E214V	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAATTCTTGGAGGTTGAAAAA	0.353																																						uc003vwn.2		NA																	0				ovary(1)|stomach(1)	2						c.(640-642)GAG>GTG		WEE1 homolog 2							109.0	109.0	109.0					7																	141418927		1808	4066	5874	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141418927A>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.641A>T	7.37:g.141418927A>T	ENSP00000380675:p.Glu214Val					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.E214V	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			4	1047	+	Melanoma(164;0.0171)		214			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.641A>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401987	0.83120	.	.	ENSG00000214102	ENST00000397541	T	0.37235	1.21	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136565	0.47852	U	0.000203	T	0.59609	0.2206	M	0.75085	2.285	0.80722	D	1	D	0.56287	0.975	D	0.65323	0.934	T	0.64347	-0.6429	10	0.87932	D	0	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	214	P0C1S8	WEE2_HUMAN	V	214	ENSP00000380675:E214V	ENSP00000380675:E214V	E	+	2	0	WEE2	141065396	1.000000	0.71417	0.982000	0.44146	0.723000	0.41478	8.773000	0.91762	2.097000	0.63578	0.459000	0.35465	GAG		0.353	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		60	52	0	0	0	0	60	52				
MGAM	8972	broad.mit.edu	37	7	141721402	141721402	+	Missense_Mutation	SNP	A	A	C	rs369486229		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141721402A>C	ENST00000549489.2	+	6	670	c.575A>C	c.(574-576)aAt>aCt	p.N192T	MGAM_ENST00000475668.2_Missense_Mutation_p.N192T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	192					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAAACCAATAACAGGTTT	0.433																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(574-576)AAT>ACT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	A	THR/ASN	0,3774		0,0,1887	69.0	66.0	67.0		575	3.1	0.0	7		67	2,8234		0,2,4116	no	missense	MGAM	NM_004668.2	65	0,2,6003	CC,CA,AA		0.0243,0.0,0.0167	benign	192/1858	141721402	2,12008	1887	4118	6005	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141721402A>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.575A>C	7.37:g.141721402A>C	ENSP00000447378:p.Asn192Thr						p.N192T	NM_004668	NP_004659	O43451	MGA_HUMAN			6	629	+	Melanoma(164;0.0272)		192			Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.575A>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	1.913	-0.450182	0.04572	0.0	2.43E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.81996	-1.56	5.45	3.09	0.35607	Glycoside hydrolase-type carbohydrate-binding (1);	0.980964	0.08331	N	0.962288	T	0.73450	0.3588	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.56992	-0.7887	10	0.27785	T	0.31	.	6.9508	0.24544	0.7478:0.0:0.2522:0.0	.	192	O43451	MGA_HUMAN	T	192;192;69	ENSP00000447378:N192T	ENSP00000316431:N69T	N	+	2	0	MGAM	141367871	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.901000	0.39838	0.514000	0.28300	-0.261000	0.10672	AAT		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	33	0	0	0	0	10	33				
GIMAP8	155038	broad.mit.edu	37	7	150174742	150174742	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:150174742G>T	ENST00000307271.3	+	5	2446	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	624	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCAATGATCTGAGAAAAGAAA	0.443																																						uc003whj.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1870-1872)CTG>CTT		GTPase, IMAP family member 8							71.0	82.0	78.0					7																	150174742		2202	4300	6502	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174742G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1872G>T	7.37:g.150174742G>T							p.L624L	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2202	+			624			Potential.			Silent	SNP	ENST00000307271.3	37	c.1872G>T	CCDS34777.1																																																																																				0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		25	103	1	0	2.45e-14	2.77e-14	25	103				
TNKS	8658	broad.mit.edu	37	8	9588487	9588487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:9588487G>A	ENST00000310430.6	+	14	2115	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	TNKS_ENST00000518281.1_Missense_Mutation_p.V460M	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	697					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTACAACCGCGTGTCTGTTGT	0.502																																						uc003wss.2		NA																	0				lung(4)|ovary(2)|kidney(1)	7						c.(2089-2091)GTG>ATG		tankyrase, TRF1-interacting ankyrin-related							117.0	97.0	104.0					8																	9588487		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588487G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2089G>A	8.37:g.9588487G>A	ENSP00000311579:p.Val697Met					TNKS_uc011kww.1_Missense_Mutation_p.V460M|TNKS_uc010lrs.1_RNA	p.V697M	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2094	+			697			ANK 10.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2089G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289169	0.95517	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.66815	-0.23;-0.23	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	L	0.56199	1.76	0.80722	D	1	D	0.54047	0.964	P	0.49047	0.599	T	0.74691	-0.3580	10	0.72032	D	0.01	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	697	O95271	TNKS1_HUMAN	M	697;460	ENSP00000311579:V697M;ENSP00000429890:V460M	ENSP00000311579:V697M	V	+	1	0	TNKS	9625897	1.000000	0.71417	0.967000	0.41034	0.751000	0.42716	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GTG		0.502	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		33	6	0	0	0	0	33	6				
FDFT1	2222	broad.mit.edu	37	8	11660408	11660408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:11660408G>A	ENST00000220584.4	+	1	289	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S|FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|RP11-297N6.4_ENST00000533405.1_5'Flank|FDFT1_ENST00000528812.1_5'Flank	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	23					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGGATCGGGGGCAAGCGGAA	0.692																																						uc003wui.2		NA																	0					0						c.(67-69)GGC>AGC		squalene synthase							44.0	37.0	39.0					8																	11660408		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11660408G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.67G>A	8.37:g.11660408G>A	ENSP00000220584:p.Gly23Ser					FDFT1_uc003wuh.2_Intron|FDFT1_uc010lsa.1_5'UTR|FDFT1_uc011kxe.1_5'UTR|FDFT1_uc011kxf.1_Missense_Mutation_p.G23S|FDFT1_uc011kxg.1_Missense_Mutation_p.G18E|FDFT1_uc003wuj.2_Missense_Mutation_p.G23S|FDFT1_uc010lsb.2_5'Flank|FDFT1_uc011kxh.1_5'Flank|FDFT1_uc011kxi.1_5'Flank	p.G23S	NM_004462	NP_004453	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	1	219	+	all_epithelial(15;0.234)		23					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.67G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132357	0.77662	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.40225	1.04;1.61;1.62;1.58	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.42245	1.32	0.80722	D	1	D;D;D	0.65815	0.994;0.995;0.995	P;P;P	0.57776	0.759;0.827;0.827	T	0.49560	-0.8927	10	0.42905	T	0.14	-29.8364	17.8033	0.88595	0.0:0.0:1.0:0.0	.	23;23;23	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	S	23	ENSP00000431852:G23S;ENSP00000220584:G23S;ENSP00000390367:G23S;ENSP00000434714:G23S	ENSP00000220584:G23S	G	+	1	0	FDFT1	11697817	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	4.773000	0.62331	2.518000	0.84900	0.485000	0.47835	GGC		0.692	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			4	15	0	0	0	0	4	15				
RHOBTB2	23221	broad.mit.edu	37	8	22864371	22864371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:22864371C>T	ENST00000251822.6	+	5	1150	c.613C>T	c.(613-615)Cga>Tga	p.R205*	RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	205	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACGCCATCCGAGCTGCACT	0.632																																						uc003xcq.2		NA																	0				ovary(1)|lung(1)	2						c.(613-615)CGA>TGA		Rho-related BTB domain containing 2 isoform 3							102.0	95.0	97.0					8																	22864371		2203	4300	6503	SO:0001587	stop_gained	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864371C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.613C>T	8.37:g.22864371C>T	ENSP00000251822:p.Arg205*					RHOBTB2_uc003xcp.2_Nonsense_Mutation_p.R227*|RHOBTB2_uc011kzp.1_Nonsense_Mutation_p.R212*|uc003xcr.2_RNA	p.R205*	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1150	+		Prostate(55;0.0513)|Breast(100;0.214)	205			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Nonsense_Mutation	SNP	ENST00000251822.6	37	c.613C>T	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234784	0.95207	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	.	.	.	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3487	0.49575	0.308:0.692:0.0:0.0	.	.	.	.	X	227;212;205	.	ENSP00000251822:R205X	R	+	1	2	RHOBTB2	22920316	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.965000	0.40471	2.368000	0.80403	0.563000	0.77884	CGA		0.632	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			29	56	0	0	0	0	29	56				
LETM2	137994	broad.mit.edu	37	8	38264944	38264944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:38264944C>A	ENST00000379957.4	+	10	1503	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*|RP11-350N15.6_ENST00000606593.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	459						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ACACCTATTTCATTACCTAAA	0.378																																						uc003xlm.1		NA																	0					0						c.(1234-1236)TCA>TAA		leucine zipper-EF-hand containing transmembrane							191.0	176.0	181.0					8																	38264944		2203	4300	6503	SO:0001587	stop_gained	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38264944C>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1376C>A	8.37:g.38264944C>A	ENSP00000369291:p.Ser459*					LETM2_uc003xll.1_Nonsense_Mutation_p.S364*|LETM2_uc003xln.1_Nonsense_Mutation_p.S256*|LETM2_uc003xlo.1_Nonsense_Mutation_p.S256*	p.S412*	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		10	1406	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	459			Mitochondrial matrix (Potential).		A6NMG3|Q8NCR2|Q96LL1	Nonsense_Mutation	SNP	ENST00000379957.4	37	c.1235C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172085|2.172085	0.38315|0.38315	.|.	.|.	ENSG00000165046|ENSG00000165046	ENST00000527175|ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.|.	.|.	.|.	5.07|5.07	3.23|3.23	0.37069|0.37069	.|.	.|0.659493	.|0.13319	.|N	.|0.396866	T|.	0.27241|.	0.0668|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-1.03|-1.03	6.2984|6.2984	0.21099|0.21099	0.1816:0.7231:0.0:0.0953|0.1816:0.7231:0.0:0.0953	.|.	.|.	.|.	.|.	L|X	53|364;411;459;412;245	.|.	.|ENSP00000297720:S364X	F|S	+|+	3|2	2|0	LETM2|LETM2	38384101|38384101	0.043000|0.043000	0.20138|0.20138	0.005000|0.005000	0.12908|0.12908	0.061000|0.061000	0.15899|0.15899	0.286000|0.286000	0.18902|0.18902	0.502000|0.502000	0.28037|0.28037	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.378	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		30	89	1	0	3.17e-13	3.57e-13	30	89				
PXDNL	137902	broad.mit.edu	37	8	52321226	52321226	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:52321226G>A	ENST00000356297.4	-	17	3058	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	PXDNL_ENST00000543296.1_Silent_p.S986S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	986					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTTCAGGGCGGACAGCTCCG	0.642																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(2956-2958)TCC>TCT		peroxidasin homolog-like precursor							19.0	23.0	22.0					8																	52321226		2060	4208	6268	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321226G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2958C>T	8.37:g.52321226G>A						PXDNL_uc003xqt.3_RNA	p.S986S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3059	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	986					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2958C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371356	0.01225	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.13	-8.25	0.01025	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	T	0.10567	-1.0624	4	.	.	.	.	4.7822	0.13208	0.3702:0.391:0.1596:0.0792	.	.	.	.	L	105	.	.	P	-	2	0	PXDNL	52483779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.689000	0.00832	-3.222000	0.00211	-1.083000	0.02208	CCG		0.642	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	5	0	0	0	0	4	5				
TOX	9760	broad.mit.edu	37	8	59764139	59764139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:59764139C>T	ENST00000361421.1	-	4	857	c.637G>A	c.(637-639)Gca>Aca	p.A213T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	213						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAAGGAGTTGCAGACTTGCTT	0.438																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(637-639)GCA>ACA		thymus high mobility group box protein TOX							151.0	130.0	137.0					8																	59764139		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59764139C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.637G>A	8.37:g.59764139C>T	ENSP00000354842:p.Ala213Thr						p.A213T	NM_014729	NP_055544	O94900	TOX_HUMAN			4	858	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	213					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.637G>A	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029948	0.93575	.	.	ENSG00000198846	ENST00000361421	T	0.14640	2.49	5.82	5.82	0.92795	.	0.050854	0.85682	D	0.000000	T	0.33059	0.0850	L	0.48642	1.525	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.00206	-1.1920	9	.	.	.	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	213	O94900	TOX_HUMAN	T	213	ENSP00000354842:A213T	.	A	-	1	0	TOX	59926693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.755000	0.94549	0.555000	0.69702	GCA		0.438	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		15	79	0	0	0	0	15	79				
KCNB2	9312	broad.mit.edu	37	8	73849229	73849229	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:73849229A>G	ENST00000523207.1	+	3	2227	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	547					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATACAATGAAATCACCAAGAC	0.488																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1639-1641)ATC>GTC		potassium voltage-gated channel, Shab-related							121.0	111.0	115.0					8																	73849229		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849229A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1639A>G	8.37:g.73849229A>G	ENSP00000430846:p.Ile547Val						p.I547V	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2227	+	Breast(64;0.137)		547			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1639A>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339681	0.41398	.	.	ENSG00000182674	ENST00000523207	T	0.25579	1.79	5.47	5.47	0.80525	.	1.816910	0.03085	N	0.158978	T	0.34106	0.0886	L	0.48642	1.525	0.41532	D	0.988468	P	0.38129	0.619	B	0.38225	0.268	T	0.07271	-1.0781	10	0.51188	T	0.08	.	15.5518	0.76158	1.0:0.0:0.0:0.0	.	547	Q92953	KCNB2_HUMAN	V	547	ENSP00000430846:I547V	ENSP00000430846:I547V	I	+	1	0	KCNB2	74011783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.306000	0.78905	2.064000	0.61679	0.533000	0.62120	ATC		0.488	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		23	88	0	0	0	0	23	88				
ZC2HC1A	51101	broad.mit.edu	37	8	79588079	79588079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:79588079C>A	ENST00000263849.4	+	2	176	c.74C>A	c.(73-75)aCa>aAa	p.T25K	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	25							metal ion binding (GO:0046872)										TGTGGAAGAACATTCTTTCCA	0.323																																						uc003ybd.2		NA																	0				ovary(1)	1						c.(73-75)ACA>AAA		hypothetical protein LOC51101							196.0	195.0	196.0					8																	79588079		2203	4299	6502	SO:0001583	missense	51101							g.chr8:79588079C>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.74C>A	8.37:g.79588079C>A	ENSP00000263849:p.Thr25Lys						p.T25K	NM_016010	NP_057094	Q96GY0	F164A_HUMAN			2	176	+			25					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.74C>A	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844628	0.71488	.	.	ENSG00000104427	ENST00000263849	T	0.39229	1.09	5.24	5.24	0.73138	.	0.270692	0.40554	N	0.001079	T	0.49321	0.1550	L	0.33189	0.99	0.80722	D	1	D	0.55172	0.97	P	0.56751	0.805	T	0.36962	-0.9726	9	.	.	.	-24.6155	18.4057	0.90535	0.0:1.0:0.0:0.0	.	25	Q96GY0	F164A_HUMAN	K	25	ENSP00000263849:T25K	.	T	+	2	0	FAM164A	79750634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.044000	0.57361	2.425000	0.82216	0.591000	0.81541	ACA		0.323	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		35	147	1	0	5.45e-19	6.33e-19	35	147				
CNGB3	54714	broad.mit.edu	37	8	87660048	87660048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:87660048C>G	ENST00000320005.5	-	8	1018	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTATTTGCTCTAAACATTGG	0.294																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(970-972)AGA>ACA		cyclic nucleotide gated channel beta 3							99.0	97.0	98.0					8																	87660048		2203	4298	6501	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87660048C>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.971G>C	8.37:g.87660048C>G	ENSP00000316605:p.Arg324Thr					CNGB3_uc010maj.2_Missense_Mutation_p.R186T	p.R324T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			8	1017	-			324			Extracellular (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.971G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882295	0.72294	.	.	ENSG00000170289	ENST00000320005	D	0.98792	-5.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98483	1.0606	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	324;324	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	324	ENSP00000316605:R324T	ENSP00000316605:R324T	R	-	2	0	CNGB3	87729164	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	5.744000	0.68664	2.814000	0.96858	0.591000	0.81541	AGA		0.294	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		26	114	0	0	0	0	26	114				
IFNK	56832	broad.mit.edu	37	9	27524569	27524569	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:27524569A>G	ENST00000276943.2	+	1	258	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CACCCAACCTATGAAGAGGGA	0.423																																						uc003zqp.2		NA																	0					0						c.(235-237)ATG>GTG		interferon kappa precursor							100.0	106.0	104.0					9																	27524569		2203	4300	6503	SO:0001583	missense	56832				cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:27524569A>G	AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.235A>G	9.37:g.27524569A>G	ENSP00000276943:p.Met79Val					MOBKL2B_uc003zqn.2_Intron	p.M79V	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)	1	258	+		all_neural(11;7.9e-11)	79					Q5T166	Missense_Mutation	SNP	ENST00000276943.2	37	c.235A>G	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	A	0.093	-1.164483	0.01673	.	.	ENSG00000147896	ENST00000276943	T	0.03181	4.02	5.88	-7.95	0.01148	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.625800	0.00960	N	0.003094	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43605	-0.9381	10	0.54805	T	0.06	-4.1057	9.8658	0.41142	0.4075:0.4586:0.1339:0.0	.	79	Q9P0W0	IFNK_HUMAN	V	79	ENSP00000276943:M79V	ENSP00000276943:M79V	M	+	1	0	IFNK	27514569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.939000	0.03933	-1.353000	0.02191	-1.255000	0.01485	ATG		0.423	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		32	82	0	0	0	0	32	82				
PIP5K1B	8395	broad.mit.edu	37	9	71532547	71532547	+	Silent	SNP	G	G	A	rs61752951	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:71532547G>A	ENST00000265382.3	+	9	1160	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PIP5K1B_ENST00000541509.1_Silent_p.E285E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	285	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGAAAGAGGAGGAGACCCCAC	0.463													G|||	14	0.00279553	0.0015	0.0014	5008	,	,		775	0.0		0.0099	False		,,,				2504	0.001					uc004agu.2		NA																	0				stomach(1)	1						c.(853-855)GAG>GAA		phosphatidylinositol-4-phosphate 5-kinase, type		G		9,4397	15.5+/-35.6	0,9,2194	198.0	205.0	203.0		855	-2.2	0.6	9	dbSNP_129	203	57,8543	35.3+/-89.8	0,57,4243	no	coding-synonymous	PIP5K1B	NM_003558.2		0,66,6437	AA,AG,GG		0.6628,0.2043,0.5075		285/541	71532547	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71532547G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.855G>A	9.37:g.71532547G>A						PIP5K1B_uc011lrq.1_Silent_p.E285E|PIP5K1B_uc004agv.2_RNA	p.E285E	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	9	1160	+			285			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.855G>A	CCDS6624.1																																																																																				0.463	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		10	215	0	0	0	0	10	215				
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:73151427G>A	ENST00000377110.3	-	25	4809	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000377106.1_Silent_p.S1394S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000360823.2_Silent_p.S1384S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1547					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAACATAAAGCTATGAGATT	0.458																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(4564-4566)AGC>AGT		transient receptor potential cation channel,							99.0	106.0	104.0					9																	73151427		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73151427G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4566C>T	9.37:g.73151427G>A						TRPM3_uc004ahu.2_Silent_p.S1364S|TRPM3_uc004ahv.2_Silent_p.S1324S|TRPM3_uc004ahw.2_Silent_p.S1394S|TRPM3_uc004ahx.2_Silent_p.S1381S|TRPM3_uc004ahy.2_Silent_p.S1384S|TRPM3_uc004ahz.2_Silent_p.S1371S|TRPM3_uc004aia.2_Silent_p.S1369S|TRPM3_uc004aib.2_Silent_p.S1359S|TRPM3_uc004aic.2_Intron	p.S1522S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	4810	-			1547			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.4566C>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114458	0.06881	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.61476	0.2350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59134	-0.7511	4	.	.	.	-24.5292	9.9612	0.41697	0.185:0.0:0.815:0.0	.	.	.	.	F	1371	.	.	L	-	1	0	TRPM3	72341247	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.142000	0.50601	2.804000	0.96469	0.655000	0.94253	CTT		0.458	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		59	30	0	0	0	0	59	30				
ZNF484	83744	broad.mit.edu	37	9	95609196	95609196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:95609196C>T	ENST00000375495.3	-	5	2021	c.1873G>A	c.(1873-1875)Gta>Ata	p.V625I	ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.V589I|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	625					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTGATGTACGTGGAGCTGT	0.393																																						uc004asu.1		NA																	0					0						c.(1873-1875)GTA>ATA		zinc finger protein 484 isoform a							72.0	68.0	69.0					9																	95609196		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609196C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1873G>A	9.37:g.95609196C>T	ENSP00000364645:p.Val625Ile					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.V627I|ZNF484_uc010mrb.1_Missense_Mutation_p.V589I|ZNF484_uc004asv.1_Missense_Mutation_p.V589I	p.V625I	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	2022	-			625			C2H2-type 13.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1873G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	11.74	1.730166	0.30684	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.16368	0.405	0.09310	N	1	D;D	0.60160	0.987;0.987	D;D	0.66084	0.941;0.941	T	0.34279	-0.9835	9	0.16896	T	0.51	.	5.0637	0.14570	0.0:0.8336:0.0:0.1664	.	627;625	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	589;627;625;589	ENSP00000378881:V589I;ENSP00000378882:V627I;ENSP00000364645:V625I;ENSP00000364646:V589I	ENSP00000364646:V589I	V	-	1	0	ZNF484	94649017	0.000000	0.05858	0.989000	0.46669	0.990000	0.78478	-1.669000	0.01958	1.622000	0.50330	0.551000	0.68910	GTA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		25	41	0	0	0	0	25	41				
RAPGEF1	2889	broad.mit.edu	37	9	134473675	134473675	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:134473675G>C	ENST00000372189.3	-	13	2089	c.1966C>G	c.(1966-1968)Ctg>Gtg	p.L656V	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.L673V	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	656					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCGACTCCAGAGCATCTGGT	0.582																																						uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(1966-1968)CTG>GTG		guanine nucleotide-releasing factor 2 isoform a							48.0	52.0	51.0					9																	134473675		1998	4175	6173	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134473675G>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1966C>G	9.37:g.134473675G>C	ENSP00000361263:p.Leu656Val					RAPGEF1_uc004cbb.2_Missense_Mutation_p.L674V|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.L831V|RAPGEF1_uc004cbd.2_Missense_Mutation_p.L661V|RAPGEF1_uc010mzs.1_Missense_Mutation_p.L188V|RAPGEF1_uc010mzl.1_Missense_Mutation_p.L154V|RAPGEF1_uc010mzo.1_3'UTR|RAPGEF1_uc010mzp.1_Missense_Mutation_p.L133V|RAPGEF1_uc010mzq.1_Missense_Mutation_p.L240V|RAPGEF1_uc010mzr.1_Missense_Mutation_p.L241V	p.L656V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	13	2096	-		Myeloproliferative disorder(178;0.204)	656					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1966C>G	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467563|1.467563	0.26335|0.26335	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686;ENST00000431470|ENST00000414781	T;T;T|.	0.25250|.	1.81;1.82;1.81|.	4.69|4.69	2.3|2.3	0.28687|0.28687	.|.	2.716750|.	0.01590|.	N|.	0.021487|.	T|T	0.33644|0.33644	0.0870|0.0870	L|L	0.44542|0.44542	1.39|1.39	0.31358|0.31358	N|N	0.681649|0.681649	B;B;B;B;B|.	0.22683|.	0.073;0.001;0.003;0.001;0.001|.	B;B;B;B;B|.	0.21917|.	0.037;0.002;0.003;0.002;0.007|.	T|T	0.38112|0.38112	-0.9676|-0.9676	10|5	0.29301|.	T|.	0.29|.	.|.	2.1322|2.1322	0.03753|0.03753	0.3587:0.0:0.3973:0.244|0.3587:0.0:0.3973:0.244	.|.	156;636;673;656;674|.	E7ERR9;C9JL20;Q68DL3;Q13905;Q13905-3|.	.;.;.;RPGF1_HUMAN;.|.	V|C	656;673;602;656;674;636;634;101;673;156|83	ENSP00000361269:L673V;ENSP00000361263:L656V;ENSP00000361264:L674V|.	ENSP00000266110:L656V|.	L|S	-|-	1|2	2|0	RAPGEF1|RAPGEF1	133463496|133463496	0.774000|0.774000	0.28592|0.28592	0.936000|0.936000	0.37596|0.37596	0.953000|0.953000	0.61014|0.61014	0.553000|0.553000	0.23391|0.23391	1.022000|1.022000	0.39626|0.39626	0.462000|0.462000	0.41574|0.41574	CTG|TCT		0.582	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		10	16	0	0	0	0	10	16				
GLRA2	2742	broad.mit.edu	37	X	14748410	14748410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:14748410G>A	ENST00000218075.4	+	9	1692	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	388					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGATGGAACAGCTGTCAAGGC	0.473																																						uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(1162-1164)GCT>ACT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						184.0	172.0	176.0					X																	14748410		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14748410G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1162G>A	X.37:g.14748410G>A	ENSP00000218075:p.Ala388Thr					GLRA2_uc010neq.2_Missense_Mutation_p.A388T|GLRA2_uc004cwe.3_Missense_Mutation_p.A388T|GLRA2_uc011mio.1_Missense_Mutation_p.A299T|GLRA2_uc011mip.1_Missense_Mutation_p.A366T	p.A388T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			10	1494	+	Hepatocellular(33;0.128)		388			Cytoplasmic (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.1162G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846961	0.32606	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.81739	-1.53;-1.53;-1.53	5.5	4.61	0.57282	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.321794	0.33691	N	0.004654	T	0.65133	0.2662	N	0.19112	0.55	0.54753	D	0.999981	B;B;B	0.34103	0.073;0.437;0.005	B;B;B	0.26614	0.071;0.054;0.014	T	0.60727	-0.7206	10	0.18276	T	0.48	.	14.663	0.68888	0.0:0.0:0.8537:0.1463	.	372;388;388	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	299;388;388	ENSP00000387756:A299T;ENSP00000218075:A388T;ENSP00000347123:A388T	ENSP00000218075:A388T	A	+	1	0	GLRA2	14658331	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	3.892000	0.56235	1.039000	0.40074	0.544000	0.68410	GCT		0.473	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			7	172	0	0	0	0	7	172				
ASB9	140462	broad.mit.edu	37	X	15270437	15270437	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:15270437G>A	ENST00000380488.4	-	4	645	c.372C>T	c.(370-372)caC>caT	p.H124H	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Silent_p.H124H|ASB9_ENST00000380485.3_Silent_p.H124H|ASB9_ENST00000380483.3_Silent_p.H124H	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	124					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CGCTGGCTCCGTGCTGCAGAA	0.488																																						uc004cwl.2		NA																	0					0						c.(370-372)CAC>CAT		ankyrin repeat and SOCS box-containing 9 isoform							66.0	56.0	59.0					X																	15270437		2203	4300	6503	SO:0001819	synonymous_variant	140462				intracellular signal transduction			g.chrX:15270437G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.372C>T	X.37:g.15270437G>A						ASB9_uc004cwk.2_Silent_p.H124H|ASB9_uc004cwm.2_Silent_p.H124H|ASB9_uc010ner.2_Silent_p.H124H|ASB9_uc004cwn.2_Silent_p.H95H	p.H124H	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			4	619	-	Hepatocellular(33;0.183)		124			ANK 3.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	ENST00000380488.4	37	c.372C>T	CCDS35208.1																																																																																				0.488	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			46	13	0	0	0	0	46	13				
KCNA3	3738	broad.mit.edu	37	1	111216794	111216794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:111216794delC	ENST00000369769.2	-	1	861	c.638delG	c.(637-639)cgcfs	p.R214fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GAAGTCGCGGCGGGGCAAGGG	0.682																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(637-639)CGCfs		potassium voltage-gated channel, shaker-related							35.0	43.0	40.0					1																	111216794		2197	4286	6483	SO:0001589	frameshift_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216794delC	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.638delG	1.37:g.111216794delC	ENSP00000358784:p.Arg214fs						p.R213fs	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	862	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	213					Q5VWN2	Frame_Shift_Del	DEL	ENST00000369769.2	37	c.638delG	CCDS828.2																																																																																				0.682	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		38	30	NA	NA	NA	NA	38	30	---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65064593	65064608	+	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TGTCCTCGGCTGTGTC	-	rs370926282		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	ENST00000265465.3	+	18	2181_2196	c.1650_1665delTGTCCTCGGCTGTGTC	c.(1648-1665)gatgtcctcggctgtgtcfs	p.DVLGCV550fs	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	550					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC	0.602																																						uc001odj.2		NA																	0					0						c.(1648-1665)GATGTCCTCGGCTGTGTCfs		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)																																			SO:0001589	frameshift_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1650_1665delTGTCCTCGGCTGTGTC	11.37:g.65064593_65064608delTGTCCTCGGCTGTGTC	ENSP00000265465:p.Asp550fs					POLA2_uc001odk.2_Frame_Shift_Del_p.D247fs	p.D550fs	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			18	1992_2007	+			550_555					B4DNB4|Q9BPV3	Frame_Shift_Del	DEL	ENST00000265465.3	37	c.1650_1665delTGTCCTCGGCTGTGTC	CCDS8098.1																																																																																				0.602	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		14	103	NA	NA	NA	NA	14	103	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49950962	49950966	+	Splice_Site	DEL	ACAGA	ACAGA	-	rs201442168		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49950962_49950966delACAGA	ENST00000257981.6	+	14	2835_2836	c.2575_2576delACAGA	c.(2575-2577)aca>a	p.T859fs	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	859					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTACTACCCACAGAGAGCGGCCTG	0.595																																						uc001ruh.1		NA																	0					0						c.e14-1		potassium voltage-gated channel, subfamily H																																				SO:0001630	splice_region_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950962_49950966delACAGA	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2576-1ACAGA>-	12.37:g.49950962_49950966delACAGA						KCNH3_uc010smj.1_Splice_Site_p.E799_splice	p.E859_splice	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			14	2836	+								Q9UQ06	Splice_Site	DEL	ENST00000257981.6	37	c.2576_splice	CCDS8786.1																																																																																				0.595	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	Frame_Shift_Del	16	48	NA	NA	NA	NA	16	48	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62233670	62233672	+	In_Frame_Del	DEL	CCA	CCA	-	rs372912670		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:62233670_62233672delCCA	ENST00000216294.4	+	2	309_311	c.205_207delCCA	c.(205-207)ccadel	p.P69del	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	69	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTTACCTCCATACACCTTCC	0.33																																					NSCLC(27;223 907 37180 39193 46568)	uc001xft.2		NA																	0					0						c.(205-207)CCAdel		small nuclear RNA activating complex,																																				SO:0001651	inframe_deletion	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62233670_62233672delCCA	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.205_207delCCA	14.37:g.62233670_62233672delCCA	ENSP00000216294:p.Pro69del						p.P69del	NM_003082	NP_003073	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	2	309_311	+			69			SNAPC3-binding.			In_Frame_Del	DEL	ENST00000216294.4	37	c.205_207delCCA	CCDS9755.1																																																																																				0.330	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		18	33	NA	NA	NA	NA	18	33	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82456255	82456259	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:82456255_82456259delAAATG	ENST00000268206.7	-	16	1985_1989	c.1817_1821delCATTT	c.(1816-1821)ccatttfs	p.PF606fs	EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	606					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGTGGTATAAATGGTGGGCAGGA	0.4																																						uc002bgt.1		NA																	0				ovary(1)	1						c.(1816-1821)CCATTTfs		elongation factor Tu GTP binding domain																																				SO:0001589	frameshift_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82456255_82456259delAAATG	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1817_1821delCATTT	15.37:g.82456255_82456259delAAATG	ENSP00000268206:p.Pro606fs					EFTUD1_uc002bgu.1_Frame_Shift_Del_p.P555fs	p.P606fs	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			16	1986_1990	-			606_607					A6NKY5|B7Z6I0|Q9H8Z6	Frame_Shift_Del	DEL	ENST00000268206.7	37	c.1817_1821delCATTT	CCDS42071.1																																																																																				0.400	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		14	39	NA	NA	NA	NA	14	39	---	---	---	---
ZFPM1	161882	broad.mit.edu	37	16	88598407	88598408	+	Intron	INS	-	-	AGAAG			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:88598407_88598408insAGAAG	ENST00000319555.3	+	7	1034				RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1						atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCCACCCCACAGAAGACGTCT	0.698																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NA																	0				central_nervous_system(1)	1						c.e7-2		zinc finger protein, multitype 1																																				SO:0001627	intron_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598407_88598408insAGAAG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.713-2->AGAAG	16.37:g.88598408_88598412dupAGAAG							p.K238_splice	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	746	+									Splice_Site	INS	ENST00000319555.3	37	c.713_splice	CCDS32502.1																																																																																				0.698	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			10	73	NA	NA	NA	NA	10	73	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579336	7579336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:7579336delC	ENST00000269305.4	-	4	540	c.351delG	c.(349-351)gggfs	p.G117fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	117	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACTTGGCTGTCCCAGAATGCA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		23	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(2)	p.0?(7)|p.G59fs*23(3)|p.G117E(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.G117R(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(1)	upper_aerodigestive_tract(6)|bone(5)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|urinary_tract(1)|liver(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(349-351)GGGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	60.0	62.0					17																	7579336		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579336delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.351delG	17.37:g.7579336delC	ENSP00000269305:p.Gly117fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.G117fs|TP53_uc002gih.2_Frame_Shift_Del_p.G117fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.G117fs|TP53_uc010cni.1_Frame_Shift_Del_p.G117fs|TP53_uc002gij.2_Frame_Shift_Del_p.G117fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.G78fs|TP53_uc010cnk.1_Frame_Shift_Del_p.G132fs	p.G117fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	545	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	117		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.351delG	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	25	NA	NA	NA	NA	52	25	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340854	39340910	+	In_Frame_Del	DEL	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	-	rs560391591|rs376756491|rs527315015|rs533107955|rs551425348|rs201290266|rs74712790|rs56109753|rs56371632|rs55905835|rs200870663|rs2320231|rs76798136|rs199980689	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	ENST00000398472.1	-	1	684_740	c.197_253delACCCAGTCTGTTGTCAGACCACCTGCCGCCCCAGCTGTGGTGTGTCCAGCTGCTGCC	c.(196-255)cacccagtctgttgtcagaccacctgccgccccagctgtggtgtgtccagctgctgccgc>cgc	p.HPVCCQTTCRPSCGVSSCC66del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	66	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		H -> R (in dbSNP:rs2320231). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGAGTGGGCGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGTGGCAGCAGCT	0.638																																						uc002hwe.3		NA																	0					0						c.e1+1		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.197_253delACCCAGTCTGTTGTCAGACCACCTGCCGCCCCAGCTGTGGTGTGTCCAGCTGCTGCC	17.37:g.39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	ENSP00000381489:p.His66_Cys84del					KRTAP4-1_uc010cxm.1_3'UTR	p.S82_splice	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	286	-		Breast(137;0.000496)						A8MWS7|Q3SYF2	Splice_Site	DEL	ENST00000398472.1	37	c.245_splice																																																																																					0.638	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		7	12	NA	NA	NA	NA	7	12	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23619368	23619369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:23619368_23619369insC	ENST00000415083.2	-	6	714_715	c.659_660insG	c.(658-660)ggafs	p.G220fs	SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs|SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	220	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTCCGCCTCCCTGTGGCAT	0.426			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NA		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(658-660)GGAfs		synovial sarcoma translocation, chromosome 18																																				SO:0001589	frameshift_variant	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619368_23619369insC	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.660dupG	18.37:g.23619371_23619371dupC	ENSP00000414516:p.Gly220fs					SS18_uc002kvn.2_Frame_Shift_Ins_p.G220fs|SS18_uc010xbf.1_Frame_Shift_Ins_p.G138fs|SS18_uc010xbg.1_Frame_Shift_Ins_p.G168fs|SS18_uc010xbh.1_Frame_Shift_Ins_p.G168fs|SS18_uc010xbi.1_Frame_Shift_Ins_p.G197fs|SS18_uc010dlz.1_Frame_Shift_Ins_p.G168fs	p.G220fs	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	737_738	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		220			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Frame_Shift_Ins	INS	ENST00000415083.2	37	c.659_660insG	CCDS32807.1																																																																																				0.426	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			79	42	NA	NA	NA	NA	79	42	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28196406	28196418	+	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	CCCAGTGTGGAAA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:28196406_28196418delCCCAGTGTGGAAA	ENST00000302326.4	-	1	1068_1080	c.114_126delTTTCCACACTGGG	c.(112-126)gctttccacactgggfs	p.AFHTG38fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	38					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT	0.634			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(112-126)GCTTTCCACACTGGGfs		meningioma  1																																				SO:0001589	frameshift_variant	4330						binding	g.chr22:28196406_28196418delCCCAGTGTGGAAA	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.114_126delTTTCCACACTGGG	22.37:g.28196406_28196418delCCCAGTGTGGAAA	ENSP00000304956:p.Ala38fs						p.A38fs	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	1069_1081	-			38_42					A9Z1V9	Frame_Shift_Del	DEL	ENST00000302326.4	37	c.114_126delTTTCCACACTGGG	CCDS42998.1																																																																																				0.634	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		12	74	NA	NA	NA	NA	12	74	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36698676	36698678	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:36698676_36698678delGGA	ENST00000216181.5	-	20	2665_2667	c.2435_2437delTCC	c.(2434-2439)ctccag>cag	p.L812del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	812					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGTTCCGCTGGAGGACCTTCAT	0.611			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2434-2439)CTCCAG>CAG		myosin, heavy polypeptide 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36698676_36698678delGGA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2435_2437delTCC	22.37:g.36698679_36698681delGGA	ENSP00000216181:p.Leu812del					MYH9_uc003aph.1_In_Frame_Del_p.L676del	p.L812del	NM_002473	NP_002464	P35579	MYH9_HUMAN			20	2666_2668	-			812					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2435_2437delTCC	CCDS13927.1																																																																																				0.611	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		31	48	NA	NA	NA	NA	31	48	---	---	---	---
