#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ABLIM3	22885	broad.mit.edu	37	5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	ENST00000506113.1	+	10	1491	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000519549.1_3'UTR			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	337					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACATGTCCGACGAGAT	0.522																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1009-1011)Tcc>Ccc		actin binding LIM protein family, member 3							140.0	141.0	141.0					5																	148617131		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148617131T>C	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1009T>C	5.37:g.148617131T>C	ENSP00000425394:p.Ser337Pro					ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA	p.S337P			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1491	+			337					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1009T>C	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903908	0.72754	.	.	ENSG00000173210	ENST00000309868;ENST00000506113;ENST00000508983	T;T;T	0.55760	0.5;0.5;0.56	5.64	5.64	0.86602	.	0.058218	0.64402	D	0.000001	T	0.60353	0.2262	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60480	-0.7255	10	0.39692	T	0.17	.	15.8736	0.79145	0.0:0.0:0.0:1.0	.	337	O94929	ABLM3_HUMAN	P	337	ENSP00000310309:S337P;ENSP00000425394:S337P;ENSP00000420855:S337P	ENSP00000310309:S337P	S	+	1	0	ABLIM3	148597324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.090000	0.64498	2.149000	0.67028	0.533000	0.62120	TCC		0.522	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		23	108	0	0	0	1	0	23	108				
EHD2	30846	broad.mit.edu	37	19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	ENST00000263277.3	+	4	793	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_ENST00000538399.1_Missense_Mutation_p.R45H|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	181	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(541-543)cGc>cAc		EH-domain containing 2							43.0	39.0	40.0					19																	48229108		2203	4300	6503	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48229108G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.542G>A	19.37:g.48229108G>A	ENSP00000263277:p.Arg181His					CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Missense_Mutation_p.R45H	p.R181H	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	4	793	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	181					B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.542G>A	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055691	0.75960	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.96885	-4.16;-4.16	3.52	3.52	0.40303	Dynamin, GTPase domain (1);	0.065723	0.56097	D	0.000021	D	0.95313	0.8479	L	0.60455	1.87	0.80722	D	1	P	0.50710	0.938	P	0.47376	0.545	D	0.94971	0.8117	10	0.54805	T	0.06	-20.79	12.9714	0.58515	0.0:0.0:1.0:0.0	.	181	Q9NZN4	EHD2_HUMAN	H	181;181;171;45	ENSP00000263277:R181H;ENSP00000439036:R45H	ENSP00000263277:R181H	R	+	2	0	EHD2	52920920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.668000	0.98619	1.702000	0.51228	0.456000	0.33151	CGC		0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			10	43	0	0	0	1	0	10	43				
AMER3	205147	broad.mit.edu	37	2	131521800	131521800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:131521800C>T	ENST00000423981.1	+	2	2265	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	719					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATGCTGGAGCAGAAACAGTC	0.632																																						ENST00000423981.1																			0											c.(2155-2157)Cag>Tag		APC membrane recruitment protein 3							46.0	43.0	44.0					2																	131521800		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131521800C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2155C>T	2.37:g.131521800C>T	ENSP00000392700:p.Gln719*					AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719*	p.Q719*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2265	+								B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.2155C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908540	0.97093	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	4.21	1.21	0.21127	.	0.367899	0.19709	N	0.107845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.2747	0.43504	0.5384:0.4616:0.0:0.0	.	.	.	.	X	719	.	ENSP00000314914:Q719X	Q	+	1	0	FAM123C	131238270	0.010000	0.17322	0.010000	0.14722	0.018000	0.09664	0.510000	0.22723	0.107000	0.17824	-0.358000	0.07595	CAG		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		12	42	0	0	0	1	0	12	42				
PKHD1	5314	broad.mit.edu	37	6	51897876	51897876	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:51897876A>T	ENST00000371117.3	-	29	3591	c.3316T>A	c.(3316-3318)Tta>Ata	p.L1106I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1106					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTGGATTTAAGGAAGAGACA	0.383																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3316-3318)Tta>Ata		polycystic kidney and hepatic disease 1 (autosomal recessive)							123.0	119.0	120.0					6																	51897876		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51897876A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3316T>A	6.37:g.51897876A>T	ENSP00000360158:p.Leu1106Ile					PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			29	3591	-	Lung NSC(77;0.0605)		1106					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3316T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175245	0.78564	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88664	-2.2;-2.41	5.99	5.99	0.97316	.	0.101514	0.43747	D	0.000539	D	0.89698	0.6790	M	0.68952	2.095	0.33096	D	0.538537	D;D	0.65815	0.995;0.976	P;P	0.59546	0.859;0.7	D	0.87786	0.2615	10	0.22109	T	0.4	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	1106;1106	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1106	ENSP00000360158:L1106I;ENSP00000341097:L1106I	ENSP00000341097:L1106I	L	-	1	2	PKHD1	52005835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.770000	0.47662	2.292000	0.77174	0.482000	0.46254	TTA		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	55	0	0	0	1	0	6	55				
FHOD1	29109	broad.mit.edu	37	16	67268290	67268290	+	Missense_Mutation	SNP	C	C	T	rs553913184		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:67268290C>T	ENST00000258201.4	-	12	1652	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	469					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTGGGCATGGCCCCGGCAAGT	0.642													C|||	0	0.0	0.0	0.0	5008	,	,		15746	0.0		0.0	False		,,,				2504	0.0					ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1405-1407)Gcc>Acc		formin homology 2 domain containing 1							26.0	28.0	27.0					16																	67268290		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67268290C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1405G>A	16.37:g.67268290C>T	ENSP00000258201:p.Ala469Thr					FHOD1_ENST00000567687.1_Missense_Mutation_p.A48T	p.A469T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	12	1652	-		Ovarian(137;0.0563)	469					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.1405G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829536	0.32329	.	.	ENSG00000135723	ENST00000258201	T	0.22945	1.93	5.18	4.23	0.50019	.	0.528953	0.20682	N	0.087625	T	0.15522	0.0374	N	0.24115	0.695	0.09310	N	1	B;B	0.27882	0.192;0.001	B;B	0.23716	0.048;0.002	T	0.19943	-1.0290	10	0.15499	T	0.54	.	11.0852	0.48082	0.0:0.9124:0.0:0.0876	.	48;469	B4DVN5;Q9Y613	.;FHOD1_HUMAN	T	469	ENSP00000258201:A469T	ENSP00000258201:A469T	A	-	1	0	FHOD1	65825791	0.209000	0.23505	0.037000	0.18230	0.061000	0.15899	3.025000	0.49681	1.182000	0.42928	0.455000	0.32223	GCC		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			3	31	0	0	0	1	0	3	31				
ZNF426	79088	broad.mit.edu	37	19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	ENST00000535489.1	-	1	340	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	2					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(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463																																						ENST00000535489.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(4-6)Gca>Aca		zinc finger protein 426							145.0	115.0	125.0					19																	9646905		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9646905C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.4G>A	19.37:g.9646905C>T	ENSP00000439017:p.Ala2Thr					ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T	p.A2T			Q9BUY5	ZN426_HUMAN			1	340	-			2					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.4G>A	CCDS12215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.903|9.903	1.207284|1.207284	0.22205|0.22205	.|.	.|.	ENSG00000130818|ENSG00000130818	ENST00000253115;ENST00000535489|ENST00000545189	T;T|.	0.06294|.	3.32;3.32|.	1.14|1.14	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|.	0.28400|.	0.0702|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|.	0.27706|.	-1.0066|.	9|.	0.72032|0.72032	D|D	0.01|0.01	.|.	5.6327|5.6327	0.17520|0.17520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|.	Q9BUY5|.	ZN426_HUMAN|.	T|X	2|19	ENSP00000253115:A2T;ENSP00000439017:A2T|.	ENSP00000253115:A2T|ENSP00000442711:W19X	A|W	-|-	1|3	0|0	ZNF426|ZNF426	9507905|9507905	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.122000|0.122000	0.20287|0.20287	-0.377000|-0.377000	0.07456|0.07456	0.931000|0.931000	0.37242|0.37242	0.313000|0.313000	0.20887|0.20887	GCA|TGG		0.463	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		10	66	0	0	0	1	0	10	66				
PGAP1	80055	broad.mit.edu	37	2	197708797	197708797	+	Silent	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:197708797A>G	ENST00000354764.4	-	25	2454	c.2340T>C	c.(2338-2340)aaT>aaC	p.N780N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	780					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGTGTTTGGGATTCTATAAAA	0.303																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2338-2340)aaT>aaC		post-GPI attachment to proteins 1							90.0	83.0	85.0					2																	197708797		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708797A>G		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2340T>C	2.37:g.197708797A>G							p.N780N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2454	-			780					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2340T>C	CCDS2318.1																																																																																				0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		4	21	0	0	0	1	0	4	21				
ZNF521	25925	broad.mit.edu	37	18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	ENST00000361524.3	-	4	2061	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	638					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1912-1914)cAa>cCa		zinc finger protein 521							150.0	138.0	142.0					18																	22805969		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805969T>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1913A>C	18.37:g.22805969T>G	ENSP00000354794:p.Gln638Pro					ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2061	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		638					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1913A>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	7.203	0.593822	0.13875	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.76839	-1.05;-1.05	5.86	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.058358	0.64402	D	0.000001	D	0.88347	0.6412	M	0.84511	2.7	0.51482	D	0.999929	D	0.76494	0.999	D	0.83275	0.996	D	0.89373	0.3676	10	0.72032	D	0.01	-30.1044	12.5625	0.56291	0.1248:0.0:0.0:0.8752	.	638	Q96K83	ZN521_HUMAN	P	638;672;638	ENSP00000354794:Q638P;ENSP00000382352:Q638P	ENSP00000354794:Q638P	Q	-	2	0	ZNF521	21059967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	1.116000	0.41820	0.528000	0.53228	CAA		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		23	136	0	0	0	1	0	23	136				
FN1	2335	broad.mit.edu	37	2	216288193	216288193	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288193G>C	ENST00000359671.1	-	9	1538	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000354785.4_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V			P02751	FINC_HUMAN	fibronectin 1	425	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTGTTGTATAGGAAGGGGAAG	0.463																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1273-1275)Cta>Gta		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134.0	119.0	124.0					2																	216288193		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288193G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1273C>G	2.37:g.216288193G>C	ENSP00000352696:p.Leu425Val					FN1_ENST00000359671.1_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V	p.L425V			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1642	-		Renal(323;0.127)	425			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1273C>G		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478700	0.63849	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	6.06	2.55	0.30701	.	0.000000	0.50627	D	0.000108	T	0.53481	0.1799	L	0.37507	1.11	0.54753	D	0.999983	B;D;B;P;B;B;P;D;B;B;B	0.58970	0.342;0.965;0.098;0.861;0.221;0.262;0.811;0.984;0.221;0.221;0.193	B;D;B;B;B;B;B;D;B;B;B	0.71184	0.147;0.953;0.167;0.298;0.056;0.057;0.38;0.972;0.034;0.034;0.126	T	0.53034	-0.8495	10	0.72032	D	0.01	.	8.825	0.35050	0.3949:0.0:0.6051:0.0	.	425;425;425;425;425;425;425;425;425;425;425	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	V	425	ENSP00000394423:L425V;ENSP00000323534:L425V;ENSP00000338200:L425V;ENSP00000350534:L425V;ENSP00000346839:L425V;ENSP00000352696:L425V;ENSP00000265312:L425V;ENSP00000273049:L425V;ENSP00000349509:L425V;ENSP00000410422:L425V;ENSP00000415018:L425V;ENSP00000399538:L425V;ENSP00000348285:L425V;ENSP00000398907:L425V	ENSP00000265313:L425V	L	-	1	2	FN1	215996438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.704000	0.37857	0.707000	0.31934	0.655000	0.94253	CTA		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	54	0	0	0	1	0	6	54				
DNAJB14	79982	broad.mit.edu	37	4	100822294	100822294	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:100822294T>C	ENST00000442697.2	-	8	1185	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	344						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTTGCTGCATACTGCATATC	0.373																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1030-1032)tAt>tGt		DnaJ (Hsp40) homolog, subfamily B, member 14							82.0	78.0	79.0					4																	100822294		2203	4299	6502	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100822294T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.1031A>G	4.37:g.100822294T>C	ENSP00000404381:p.Tyr344Cys						p.Y344C	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	8	1185	-			344					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.1031A>G	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846835	0.71603	.	.	ENSG00000164031	ENST00000442697	T	0.45668	0.89	5.71	5.71	0.89125	Domain of unknown function DUF1977, DnaJ-like (1);	0.126578	0.56097	D	0.000036	T	0.59500	0.2198	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.63192	0.905;0.912	T	0.58451	-0.7634	10	0.40728	T	0.16	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	344;259	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	C	344	ENSP00000404381:Y344C	ENSP00000404381:Y344C	Y	-	2	0	DNAJB14	101041317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.198000	0.77823	2.171000	0.68590	0.533000	0.62120	TAT		0.373	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		7	53	0	0	0	1	0	7	53				
MAP7	9053	broad.mit.edu	37	6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	ENST00000354570.3	-	4	729	c.319A>T	c.(319-321)Aag>Tag	p.K107*	MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	107					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(319-321)Aag>Tag		microtubule-associated protein 7							121.0	116.0	118.0					6																	136710581		2203	4300	6503	SO:0001587	stop_gained	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710581T>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.319A>T	6.37:g.136710581T>A	ENSP00000346581:p.Lys107*					MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*	p.K107*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	729	-	Colorectal(23;0.24)		107					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	c.319A>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	36	5.714804	0.96830	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5132	15.1529	0.72717	0.0:0.0:0.0:1.0	.	.	.	.	X	107;129;92;129	.	ENSP00000346581:K107X	K	-	1	0	MAP7	136752274	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.631000	0.61304	2.053000	0.61076	0.455000	0.32223	AAG		0.542	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		22	128	0	0	0	1	0	22	128				
TCP10	6953	broad.mit.edu	37	6	167786722	167786722	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:167786722C>T	ENST00000397829.4	-	8	1083	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	333						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTCGGGAAACCGGACCGCCGG	0.557																																						ENST00000397829.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(916-918)Ggt>Agt		t-complex 10							104.0	105.0	105.0					6																	167786722		1861	4101	5962	SO:0001583	missense	6953					cytosol		g.chr6:167786722C>T	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.916G>A	6.37:g.167786722C>T	ENSP00000380929:p.Gly306Ser					TCP10_ENST00000366827.2_Intron	p.G306S	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	333					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.916G>A	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	c	3.960	-0.010476	0.07727	.	.	ENSG00000203690	ENST00000397829	T	0.27104	1.69	1.83	-3.66	0.04489	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	9	0.72032	D	0.01	.	1.4273	0.02326	0.1691:0.3698:0.115:0.3462	.	333	Q12799	TCP10_HUMAN	S	306	ENSP00000380929:G306S	ENSP00000380929:G306S	G	-	1	0	TCP10	167706712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.389000	0.00488	-4.390000	0.00052	-4.905000	0.00002	GGT		0.557	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		6	69	0	0	0	1	0	6	69				
CELSR3	1951	broad.mit.edu	37	3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	ENST00000164024.4	-	33	9284	c.9004C>T	c.(9004-9006)Cgg>Tgg	p.R3002W	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R3007W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3002					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGGGCCCGGCCCAGAGAA	0.652																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9019-9021)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							55.0	63.0	60.0					3																	48678778		2202	4300	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48678778G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9004C>T	3.37:g.48678778G>A	ENSP00000164024:p.Arg3002Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3002W	p.R3007W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9299	-			3002					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9019C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509395	0.64522	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71103	-0.54;-0.53	5.12	2.21	0.28008	.	.	.	.	.	T	0.49012	0.1532	N	0.08118	0	0.30603	N	0.760309	P;P;D	0.56968	0.956;0.926;0.978	B;B;B	0.40410	0.292;0.153;0.328	T	0.51710	-0.8671	9	0.56958	D	0.05	.	11.1893	0.48675	0.0:0.1225:0.6423:0.2352	.	3007;3002;3100	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3002;3007	ENSP00000164024:R3002W;ENSP00000445694:R3007W	ENSP00000164024:R3002W	R	-	1	2	CELSR3	48653782	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.589000	0.61006	0.136000	0.18733	0.514000	0.50259	CGG		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		23	110	0	0	0	1	0	23	110				
SLC24A2	25769	broad.mit.edu	37	9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	ENST00000341998.2	-	1	780	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(718-720)cGa>cCa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							92.0	87.0	89.0					9																	19786146		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786146C>G	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.719G>C	9.37:g.19786146C>G	ENSP00000344801:p.Arg240Pro					SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	780	-			240					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.719G>C	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271938	0.80469	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.64991	-0.13;-0.13	5.91	5.91	0.95273	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93057	0.6471	9	.	.	.	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	240;240	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	240	ENSP00000344801:R240P;ENSP00000286344:R240P	.	R	-	2	0	SLC24A2	19776146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CGA		0.393	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		10	82	0	0	0	1	0	10	82				
SLC13A2	9058	broad.mit.edu	37	17	26817446	26817446	+	Intron	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	ENST00000314669.5	+	3	651				SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.P118L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTCTTCCCGCCGCTCAGCCAT	0.612																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(352-354)cCg>cTg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						103.0	106.0	105.0					17																	26817446		2203	4300	6503	SO:0001627	intron_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817446C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.232-26C>T	17.37:g.26817446C>T						SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron	p.P118L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	773	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		69					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.353C>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087478	0.01873	.	.	ENSG00000007216	ENST00000444914	T	0.65178	-0.14	4.54	1.03	0.20045	.	.	.	.	.	T	0.26666	0.0652	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29941	-0.9995	9	0.02654	T	1	.	4.8283	0.13427	0.1884:0.568:0.0:0.2437	.	118	E7ETH5	.	L	118	ENSP00000392411:P118L	ENSP00000392411:P118L	P	+	2	0	SLC13A2	23841573	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	0.021000	0.13489	0.327000	0.23409	-0.143000	0.13931	CCG		0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		36	194	0	0	0	1	0	36	194				
PRB3	5544	broad.mit.edu	37	12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	ENST00000381842.3	-	5	884	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P283S|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	283	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCAGCGGGAGGTGGCAGA	0.622																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							99.0	115.0	110.0					12																	11420209		2200	4300	6500	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420209G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.847C>T	12.37:g.11420209G>A	ENSP00000371264:p.Pro283Ser					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	884	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000381842.3	37			.	.	.	.	.	.	.	.	.	.	.	1.560	-0.536924	0.04082	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.33216	1.42;1.42	1.14	1.14	0.20703	.	2.103270	0.03947	U	0.287895	T	0.27169	0.0666	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.46275	0.51	T	0.23583	-1.0184	9	0.27082	T	0.32	.	5.7166	0.17964	0.0:0.0:1.0:0.0	.	283	Q04118	PRB3_HUMAN	S	283	ENSP00000371264:P283S;ENSP00000442626:P283S	ENSP00000371264:P283S	P	-	1	0	PRB3	11311476	0.998000	0.40836	0.002000	0.10522	0.004000	0.04260	0.923000	0.28757	0.948000	0.37687	0.456000	0.33151	CCC		0.622	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		36	208	0	0	0	1	0	36	208				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			0							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	55	0	0	0	1	0	4	55				
ADAMTS15	170689	broad.mit.edu	37	11	130332501	130332501	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1366-1368)tcC>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 15							76.0	66.0	69.0					11																	130332501		2201	4296	6497	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332501C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1368C>T	11.37:g.130332501C>T							p.S456S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1368	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	456			Disintegrin.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1368C>T	CCDS8488.1																																																																																				0.647	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	121	0	0	0	1	0	17	121				
OBSCN	84033	broad.mit.edu	37	1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T	rs199928910	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:228430986C>T	ENST00000422127.1	+	10	3076	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000570156.2_Missense_Mutation_p.T1103M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1011	Ig-like 10.			T -> A (in Ref. 1; CAC44768). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCCCAGACGGAGGTGATG	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		15565	0.0		0.001	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3307-3309)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF																																				SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228430986C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3032C>T	1.37:g.228430986C>T	ENSP00000409493:p.Thr1011Met					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1011M	p.T1103M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			11	3382	+		Prostate(94;0.0405)	38			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3308C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244279	0.22796	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66815	-0.23;-0.23	5.22	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.665053	0.11881	U	0.520470	T	0.79713	0.4493	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.74077	-0.3781	10	0.48119	T	0.1	.	11.3655	0.49668	0.0:0.8417:0.0:0.1583	.	1011;1011	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1011	ENSP00000284548:T1011M;ENSP00000409493:T1011M	ENSP00000284548:T1011M	T	+	2	0	OBSCN	226497609	0.992000	0.36948	0.419000	0.26584	0.175000	0.22909	2.489000	0.45285	0.474000	0.27392	0.460000	0.39030	ACG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	55	0	0	0	1	0	7	55				
SPTB	6710	broad.mit.edu	37	14	65239642	65239642	+	Missense_Mutation	SNP	G	G	A	rs149727354	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:65239642G>A	ENST00000389721.5	-	25	5241	c.5209C>T	c.(5209-5211)Cgg>Tgg	p.R1737W	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389722.3_Missense_Mutation_p.R1737W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGGTCTCCCGGGCAAAGTCC	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		18550	0.003		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5209-5211)Cgg>Tgg		spectrin, beta, erythrocytic		G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	20.0	22.0	22.0		5209,5209	5.2	1.0	14	dbSNP_134	22	2,8594		0,2,4296	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1737/2138,1737/2329	65239642	2,12998	2202	4298	6500	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239642G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5209C>T	14.37:g.65239642G>A	ENSP00000374371:p.Arg1737Trp					SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W	p.R1737W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5262	-		all_lung(585;4.15e-09)	1737					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5209C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129081	0.94473	0.0	2.33E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.997	T	0.81004	-0.1129	10	0.87932	D	0	.	17.8889	0.88865	0.0:0.0:1.0:0.0	.	521;1737;1741	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	W	1741;1737;521;402;1737;1737;1737;1737	ENSP00000374372:R1737W;ENSP00000451324:R402W;ENSP00000451752:R1737W;ENSP00000374371:R1737W;ENSP00000443882:R1737W;ENSP00000374370:R1737W	ENSP00000334218:R521W	R	-	1	2	SPTB	64309395	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.029000	0.88807	2.595000	0.87683	0.561000	0.74099	CGG		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	42	0	0	0	1	0	5	42				
MGAT4C	25834	broad.mit.edu	37	12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	rs566418071		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.0					ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(445-447)Cgt>Tgt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							81.0	80.0	80.0					12																	86374059		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374059G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.445C>T	12.37:g.86374059G>A	ENSP00000474896:p.Arg149Cys					MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C	p.R149C			Q9UBM8	MGT4C_HUMAN			8	1649	-			149					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.445C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940816	0.18281	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	4.59	0.56863	.	0.169518	0.52532	D	0.000061	T	0.62208	0.2409	N	0.02916	-0.46	0.58432	D	0.999999	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	T	0.59225	-0.7494	10	0.34782	T	0.22	-17.5819	3.6286	0.08123	0.3462:0.0:0.6538:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	149;178;149;149;149;149;149	ENSP00000331664:R149C;ENSP00000376900:R178C;ENSP00000449022:R149C;ENSP00000446647:R149C;ENSP00000447253:R149C;ENSP00000449172:R149C	ENSP00000331664:R149C	R	-	1	0	MGAT4C	84898190	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.687000	0.84139	2.612000	0.88384	0.655000	0.94253	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		12	72	0	0	0	1	0	12	72				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	32	0	0	0	1	0	4	32				
KIAA0754	643314	broad.mit.edu	37	1	39876726	39876726	+	Silent	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	ENST00000530275.1	+	1	576	c.381A>G	c.(379-381)acA>acG	p.T127T	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	127										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(379-381)acA>acG		KIAA0754							32.0	33.0	33.0					1																	39876726		1951	4146	6097	SO:0001819	synonymous_variant	643314							g.chr1:39876726A>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.381A>G	1.37:g.39876726A>G			OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	p.T127T	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	576	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	127					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.381A>G																																																																																					0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		10	29	0	0	0	1	0	10	29				
YTHDF1	54915	broad.mit.edu	37	20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	ENST00000370339.3	-	4	1791	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	484	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1450-1452)Gta>Ata		YTH domain family, member 1							128.0	113.0	118.0					20																	61833842		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61833842C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1450G>A	20.37:g.61833842C>T	ENSP00000359364:p.Val484Ile					YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I|YTHDF1_ENST00000370334.4_Intron	p.V484I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1791	-			484			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1450G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197463	0.79015	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.35236	1.32;1.32	4.87	4.87	0.63330	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.42008	1.315	0.80722	D	1	P	0.51351	0.944	P	0.61874	0.895	T	0.41016	-0.9532	10	0.33940	T	0.23	-25.3842	18.0227	0.89259	0.0:1.0:0.0:0.0	.	484	Q9BYJ9	YTHD1_HUMAN	I	484;434	ENSP00000359364:V484I;ENSP00000359358:V434I	ENSP00000359358:V434I	V	-	1	0	YTHDF1	61304287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.708000	0.84633	2.258000	0.74832	0.591000	0.81541	GTA		0.537	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		15	81	0	0	0	1	0	15	81				
GLE1	2733	broad.mit.edu	37	9	131298722	131298722	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:131298722G>A	ENST00000309971.4	+	12	1841	c.1735G>A	c.(1735-1737)Gct>Act	p.A579T	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	579					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCTACGCTGCTATCATCCA	0.468																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1735-1737)Gct>Act		GLE1 RNA export mediator							114.0	93.0	100.0					9																	131298722		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131298722G>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1735G>A	9.37:g.131298722G>A	ENSP00000308622:p.Ala579Thr					GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T|RP11-216B9.6_ENST00000434999.1_RNA	p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			12	1841	+			579					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.1735G>A	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804628	0.96967	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.79033	-1.23;-1.23;-1.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91638	0.5324	10	0.66056	D	0.02	-19.2754	19.087	0.93206	0.0:0.0:1.0:0.0	.	579;579	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	T	579;579;325	ENSP00000308622:A579T;ENSP00000361856:A579T;ENSP00000438670:A325T	ENSP00000308622:A579T	A	+	1	0	GLE1	130338543	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.790000	0.99075	2.764000	0.94973	0.650000	0.86243	GCT		0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		4	55	0	0	0	1	0	4	55				
SYNE1	23345	broad.mit.edu	37	6	152651648	152651648	+	Silent	SNP	C	C	T	rs200419328	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	ENST00000367255.5	-	78	14773	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_ENST00000341594.5_Silent_p.A4471A|SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000265368.4_Silent_p.A4724A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4724					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		20202	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14170-14172)gcG>gcA		spectrin repeat containing, nuclear envelope 1							51.0	58.0	56.0					6																	152651648		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651648C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14172G>A	6.37:g.152651648C>T		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000265368.4_Silent_p.A4724A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A	p.A4724A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14773	-		Ovarian(120;0.0955)	4724					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14172G>A	CCDS5236.2																																																																																				0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	57	0	0	0	1	0	10	57				
EXTL1	2134	broad.mit.edu	37	1	26360306	26360306	+	Silent	SNP	C	C	T	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	ENST00000374280.3	+	9	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	546					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16773	0.0		0.001	False		,,,				2504	0.0					ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1636-1638)aaC>aaT		exostosin-like glycosyltransferase 1		C		12,4394	20.2+/-43.8	0,12,2191	88.0	85.0	86.0		1638	-9.8	0.4	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXTL1	NM_004455.2		0,13,6490	TT,TC,CC		0.0116,0.2724,0.1		546/677	26360306	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360306C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1638C>T	1.37:g.26360306C>T							p.N546N	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	9	2505	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	546					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.1638C>T	CCDS271.1																																																																																				0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		17	78	0	0	0	1	0	17	78				
ATP10B	23120	broad.mit.edu	37	5	160049524	160049524	+	Silent	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	ENST00000327245.5	-	14	2535	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	563					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTGACAAGGTCTCCAACC	0.488																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1687-1689)acC>acA		ATPase, class V, type 10B							98.0	103.0	101.0					5																	160049524		1992	4165	6157	SO:0001819	synonymous_variant	23120				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.chr5:160049524G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1689C>A	5.37:g.160049524G>T						CTC-348L5.1_ENST00000523598.1_RNA	p.T563T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	2535	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	563					Q9H725	Silent	SNP	ENST00000327245.5	37	c.1689C>A	CCDS43394.1																																																																																				0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		17	78	1	0	1.02788e-11	1	1.11214e-11	17	78				
OR11H12	440153	broad.mit.edu	37	14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(490-492)tGg>tTg		olfactory receptor, family 11, subfamily H, member 12							149.0	163.0	159.0					14																	19378084		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378084G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.491G>T	14.37:g.19378084G>T	ENSP00000449002:p.Trp164Leu						p.W164L	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	563	+	all_cancers(95;0.00108)		164						Missense_Mutation	SNP	ENST00000550708.1	37	c.491G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770733	0.31320	.	.	ENSG00000257115	ENST00000550708	T	0.58210	0.35	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002208	T	0.68924	0.3054	M	0.85630	2.765	0.26265	N	0.978514	D	0.89917	1.0	D	0.97110	1.0	T	0.74352	-0.3693	9	0.66056	D	0.02	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	164	B2RN74	O11HC_HUMAN	L	164	ENSP00000449002:W164L	ENSP00000449002:W164L	W	+	2	0	CR383656.1	18448084	0.134000	0.22483	0.963000	0.40424	0.194000	0.23727	1.020000	0.30027	0.619000	0.30197	0.064000	0.15345	TGG		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		9	580	1	0	0.00621372	1	0.00640789	9	580				
NAV2	89797	broad.mit.edu	37	11	19970369	19970369	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	ENST00000396087.3	+	11	2556	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	NAV2_ENST00000396085.1_Silent_p.D796D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000360655.4_Silent_p.D732D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617																																						ENST00000396085.1																			1	Substitution - coding silent(1)	p.D819D(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2386-2388)gaC>gaT		neuron navigator 2							64.0	56.0	59.0					11																	19970369		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19970369C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2457C>T	11.37:g.19970369C>T						NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000396087.3_Silent_p.D819D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D	p.D796D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			10	2749	+			819					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2388C>T	CCDS58126.1																																																																																				0.617	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	73	0	0	0	1	0	11	73				
CACNA1E	777	broad.mit.edu	37	1	181724388	181724388	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:181724388G>A	ENST00000367573.2	+	28	3844	c.3844G>A	c.(3844-3846)Gta>Ata	p.V1282I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1263I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1282					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCGACTGCGTAGTGACCTC	0.502																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3787-3789)Gta>Ata		calcium channel, voltage-dependent, R type, alpha 1E subunit							145.0	139.0	141.0					1																	181724388		2011	4192	6203	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724388G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3844G>A	1.37:g.181724388G>A	ENSP00000356545:p.Val1282Ile					CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1282I	p.V1263I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			27	3952	+			1282					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3787G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270364	0.80469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	L	0.48218	1.51	0.80722	D	1	P;D;D	0.71674	0.689;0.998;0.998	P;P;D	0.73708	0.448;0.908;0.981	D	0.99593	1.0976	10	0.52906	T	0.07	.	18.524	0.90965	0.0:0.0:1.0:0.0	.	1263;1282;1282	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1282;1263;1233;1214;889;1263;1282	ENSP00000356542:V1282I;ENSP00000434814:V1263I;ENSP00000350183:V1233I;ENSP00000351101:V1214I;ENSP00000356539:V889I;ENSP00000353222:V1263I;ENSP00000356545:V1282I	ENSP00000350183:V1233I	V	+	1	0	CACNA1E	179991011	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.685000	0.98661	2.468000	0.83385	0.650000	0.86243	GTA		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	62	0	0	0	1	0	13	62				
LRRC37B	114659	broad.mit.edu	37	17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	ENST00000341671.7	+	1	1512	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000327564.7_Missense_Mutation_p.V530M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	503						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1588-1590)Gtg>Atg		leucine rich repeat containing 37B							61.0	61.0	61.0					17																	30349672		2200	4296	6496	SO:0001583	missense	114659					integral to membrane		g.chr17:30349672G>A	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1507G>A	17.37:g.30349672G>A	ENSP00000340519:p.Val503Met					LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V503M	p.V530M			Q96QE4	LR37B_HUMAN			1	1649	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	503					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1588G>A	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.797	0.932033	0.18131	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.68025	-0.25;-0.3;0.81;-0.28	1.73	-3.46	0.04767	.	.	.	.	.	T	0.67924	0.2945	M	0.69823	2.125	0.09310	N	1	D;P	0.61080	0.989;0.712	P;B	0.56700	0.804;0.086	T	0.59440	-0.7454	9	0.51188	T	0.08	.	1.1157	0.01714	0.2111:0.3347:0.2871:0.1671	.	503;503	Q17RC9;Q96QE4	.;LR37B_HUMAN	M	421;530;503;503	ENSP00000443345:V421M;ENSP00000332536:V530M;ENSP00000378202:V503M;ENSP00000340519:V503M	ENSP00000332536:V530M	V	+	1	0	LRRC37B	27373785	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.184000	0.09698	-2.680000	0.00409	0.186000	0.17326	GTG		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		23	111	0	0	0	1	0	23	111				
VDAC3	7419	broad.mit.edu	37	8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	ENST00000022615.4	+	7	577	c.509C>T	c.(508-510)gCc>gTc	p.A170V	VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000392935.3_Missense_Mutation_p.A171V|VDAC3_ENST00000522572.1_Intron			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	170					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(511-513)gCc>gTc		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						72.0	69.0	70.0					8																	42259491		2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259491C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.509C>T	8.37:g.42259491C>T	ENSP00000022615:p.Ala170Val					VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.A170V	p.A171V	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	655	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	170					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.512C>T	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106547	0.94292	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.48201	0.82;0.82;0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.84156	2.68	0.80722	D	1	P	0.45396	0.857	B	0.43018	0.405	T	0.62506	-0.6840	9	.	.	.	-5.7761	17.6115	0.88055	0.0:1.0:0.0:0.0	.	170	Q9Y277	VDAC3_HUMAN	V	171;171;170	ENSP00000442811:A171V;ENSP00000428845:A171V;ENSP00000022615:A170V	.	A	+	2	0	VDAC3	42378648	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.832000	0.97577	0.650000	0.86243	GCC		0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			8	55	0	0	0	1	0	8	55				
GSDMD	79792	broad.mit.edu	37	8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	ENST00000526406.1	+	6	1286	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y|GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	135					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(403-405)Cat>Tat		gasdermin D							26.0	29.0	28.0					8																	144642132		2199	4298	6497	SO:0001583	missense	79792							g.chr8:144642132C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.403C>T	8.37:g.144642132C>T	ENSP00000433209:p.His135Tyr					GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y|GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y	p.H135Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			6	1286	+			135					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.403C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424829	0.25639	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.33865	1.85;2.74;1.83;1.85;1.39;2.52	4.7	0.176	0.15049	.	2.080600	0.02011	N	0.046970	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.46457	0.878;0.866;0.866;0.838	B;B;B;B	0.41894	0.313;0.369;0.369;0.253	T	0.35325	-0.9793	10	0.66056	D	0.02	0.6255	7.5173	0.27608	0.5393:0.3213:0.1394:0.0	.	165;135;135;183	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	Y	135;135;183;135;151;135	ENSP00000433209:H135Y;ENSP00000434386:H135Y;ENSP00000433958:H183Y;ENSP00000262580:H135Y;ENSP00000436684:H151Y;ENSP00000437065:H135Y	ENSP00000262580:H135Y	H	+	1	0	GSDMD	144713275	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.644000	0.05415	0.160000	0.19432	0.543000	0.68304	CAT		0.537	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		8	50	0	0	0	1	0	8	50				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	48	0	0	0	1	0	3	48				
SPRYD3	84926	broad.mit.edu	37	12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	ENST00000301463.4	-	4	379	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	98	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(292-294)cTg>cGg		SPRY domain containing 3							96.0	94.0	94.0					12																	53468957		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53468957A>C	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.293T>G	12.37:g.53468957A>C	ENSP00000301463:p.Leu98Arg					SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	p.L98R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			4	379	-			98			B30.2/SPRY.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.293T>G	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379048	0.82682	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.62364	0.03;0.03	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.077082	0.49916	D	0.000133	T	0.80138	0.4568	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83469	0.0058	10	0.87932	D	0	.	13.136	0.59409	1.0:0.0:0.0:0.0	.	98	Q8NCJ5	SPRY3_HUMAN	R	98;135	ENSP00000301463:L98R;ENSP00000449452:L135R	ENSP00000301463:L98R	L	-	2	0	SPRYD3	51755224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.314000	0.89980	2.271000	0.75665	0.459000	0.35465	CTG		0.562	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		27	167	0	0	0	1	0	27	167				
COPB2	9276	broad.mit.edu	37	3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	ENST00000333188.5	-	15	2013	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	611					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)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1831-1833)cCt>cTt		coatomer protein complex, subunit beta 2 (beta prime)							73.0	74.0	74.0					3																	139085462		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085462G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1832C>T	3.37:g.139085462G>A	ENSP00000329419:p.Pro611Leu					COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	p.P611L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	2013	-			611					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1832C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294868	0.95546	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.64618	-0.11;-0.0	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	H	0.94925	3.6	0.80722	D	1	P	0.48764	0.915	P	0.55749	0.783	D	0.87025	0.2131	10	0.72032	D	0.01	-18.407	20.1197	0.97955	0.0:0.0:1.0:0.0	.	611	P35606	COPB2_HUMAN	L	611;582	ENSP00000329419:P611L;ENSP00000422295:P582L	ENSP00000329419:P611L	P	-	2	0	COPB2	140568152	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	CCT		0.398	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		9	43	0	0	0	1	0	9	43				
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CACTGAGCAACAACTGCCATG	0.488																																						ENST00000526016.1																			0																																																			0							g.chr11:55065601C>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065601C>G								NR_038174.2						0	107	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			6	52	0	0	0	1	0	6	52				
POM121L12	285877	broad.mit.edu	37	7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(475-477)Cgc>Tgc		POM121 transmembrane nucleoporin-like 12							13.0	16.0	15.0					7																	53103839		1859	4070	5929	SO:0001583	missense	285877							g.chr7:53103839C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.475C>T	7.37:g.53103839C>T	ENSP00000386133:p.Arg159Cys						p.R159C	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	491	+			159					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.475C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575802	0.13623	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	1.81	0.851	0.18989	.	.	.	.	.	T	0.14141	0.0342	N	0.01352	-0.895	0.09310	N	1	D	0.76494	0.999	P	0.56434	0.798	T	0.10520	-1.0626	9	0.46703	T	0.11	.	5.2207	0.15368	0.342:0.658:0.0:0.0	.	159	Q8N7R1	P1L12_HUMAN	C	159	ENSP00000386133:R159C	ENSP00000386133:R159C	R	+	1	0	POM121L12	53071333	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.333000	0.07894	0.312000	0.23038	0.555000	0.69702	CGC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	45	0	0	0	1	0	10	45				
SERPINB2	5055	broad.mit.edu	37	18	61569789	61569789	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:61569789C>G	ENST00000299502.4	+	7	910	c.830C>G	c.(829-831)aCt>aGt	p.T277S	SERPINB2_ENST00000457692.1_Missense_Mutation_p.T277S	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(829-831)aCt>aGt		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						149.0	135.0	140.0					18																	61569789		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569789C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.830C>G	18.37:g.61569789C>G	ENSP00000299502:p.Thr277Ser					SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277S	p.T277S	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			8	1163	+		Esophageal squamous(42;0.131)	277					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.830C>G	CCDS11989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278463|3.278463	0.59758|0.59758	.|.	.|.	ENSG00000242550|ENSG00000197632	ENST00000397996;ENST00000418725|ENST00000299502;ENST00000457692	.|D;D	.|0.84070	.|-1.8;-1.8	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Serpin domain (3);	.|0.048615	.|0.85682	.|D	.|0.000000	D|D	0.87466|0.87466	0.6184|0.6184	L|L	0.50847|0.50847	1.595|1.595	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.80764	.|0.983;0.994	D|D	0.87626|0.87626	0.2513|0.2513	5|10	.|0.66056	.|D	.|0.02	.|.	11.3375|11.3375	0.49513|0.49513	0.0:0.9155:0.0:0.0845|0.0:0.9155:0.0:0.0845	.|.	.|277;277	.|B2R7Y0;P05120	.|.;PAI2_HUMAN	Q|S	153|277	.|ENSP00000299502:T277S;ENSP00000401645:T277S	.|ENSP00000299502:T277S	H|T	+|+	3|2	2|0	SERPINB10|SERPINB2	59720769|59720769	0.990000|0.990000	0.36364|0.36364	0.949000|0.949000	0.38748|0.38748	0.661000|0.661000	0.39034|0.39034	3.468000|3.468000	0.53086|0.53086	2.615000|2.615000	0.88500|0.88500	0.557000|0.557000	0.71058|0.71058	CAC|ACT		0.418	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		9	118	0	0	0	1	0	9	118				
VAMP5	10791	broad.mit.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																						ENST00000306384.4																			1	Substitution - Missense(1)	p.R8W(1)	large_intestine(1)	NS(1)|large_intestine(3)|lung(1)	5						c.(22-24)Cgg>Tgg		vesicle-associated membrane protein 5							99.0	86.0	90.0					2																	85818866		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818866C>T	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp						p.R8W	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	105	+			8			v-SNARE coiled-coil homology.		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.22C>T	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		19	98	0	0	0	1	0	19	98				
CDK13	8621	broad.mit.edu	37	7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	ENST00000181839.4	+	9	3330	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_ENST00000340829.5_Missense_Mutation_p.T909A|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CGAACTCTTCACTAAAAAACC	0.333																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2725-2727)Act>Gct		cyclin-dependent kinase 13							123.0	126.0	125.0					7																	40102644		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102644A>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2725A>G	7.37:g.40102644A>G	ENSP00000181839:p.Thr909Ala					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T909A	p.T909A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			9	3330	+			909			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2725A>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331497	0.60853	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46870	0.1415	N	0.25647	0.755	0.58432	D	0.999996	B;D;P	0.61697	0.043;0.99;0.592	B;P;P	0.51945	0.037;0.685;0.475	T	0.35599	-0.9782	8	.	.	.	-13.5534	16.1325	0.81454	1.0:0.0:0.0:0.0	.	295;909;909	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	A	909	ENSP00000181839:T909A;ENSP00000340557:T909A	.	T	+	1	0	CDK13	40069169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.698000	0.91311	2.272000	0.75746	0.460000	0.39030	ACT		0.333	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		14	66	0	0	0	1	0	14	66				
RARB	5915	broad.mit.edu	37	3	25470378	25470378	+	Intron	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:25470378A>G	ENST00000404969.1	+	2	178				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Splice_Site_p.Q52Q|RARB_ENST00000437042.2_Intron			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACTGCTCAATGTAGGTTTA	0.433																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.e1+1		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						85.0	73.0	77.0					3																	25470378		2203	4300	6503	SO:0001627	intron_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25470378A>G	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32306A>G	3.37:g.25470378A>G						RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron	p.Q52_splice	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			1	577	+			0			Modulating.		P12891|Q00989|Q15298|Q9UN48	Splice_Site	SNP	ENST00000404969.1	37	c.157_splice																																																																																					0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	37	0	0	0	1	0	6	37				
FN1	2335	broad.mit.edu	37	2	216288199	216288199	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288199G>T	ENST00000359671.1	-	9	1532	c.1267C>A	c.(1267-1269)Ccc>Acc	p.P423T	FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T|FN1_ENST00000354785.4_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T			P02751	FINC_HUMAN	fibronectin 1	423	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TATAGGAAGGGGAAGTGGCAC	0.463																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1267-1269)Ccc>Acc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134.0	118.0	124.0					2																	216288199		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288199G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1267C>A	2.37:g.216288199G>T	ENSP00000352696:p.Pro423Thr					FN1_ENST00000359671.1_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T	p.P423T			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1636	-		Renal(323;0.127)	423			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1267C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.148695	0.94603	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	D	0.98235	0.9416	H	0.97265	3.97	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;P	0.89917	1.0;0.999;1.0;0.944;1.0;1.0;1.0;1.0;1.0;1.0;0.762	D;D;D;P;D;D;D;D;D;D;P	0.97110	1.0;0.997;1.0;0.637;0.998;0.999;0.999;0.998;0.998;0.998;0.625	D	0.98619	1.0666	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	423;423;423;423;423;423;423;423;423;423;423	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	T	423	ENSP00000394423:P423T;ENSP00000323534:P423T;ENSP00000338200:P423T;ENSP00000350534:P423T;ENSP00000346839:P423T;ENSP00000352696:P423T;ENSP00000265312:P423T;ENSP00000273049:P423T;ENSP00000349509:P423T;ENSP00000410422:P423T;ENSP00000415018:P423T;ENSP00000399538:P423T;ENSP00000348285:P423T;ENSP00000398907:P423T	ENSP00000265313:P423T	P	-	1	0	FN1	215996444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.882000	0.98803	0.655000	0.94253	CCC		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	57	1	0	0.0215528	1	0.0215528	6	57				
RAC2	5880	broad.mit.edu	37	22	37637140	37637140	+	Intron	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:37637140C>T	ENST00000249071.6	-	2	229				RAC2_ENST00000401529.3_Silent_p.A58A|RAC2_ENST00000405484.1_Intron|RAC2_ENST00000406508.1_Intron	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GACACCAACACGCTCCCTCCA	0.647																																						ENST00000401529.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(172-174)gcG>gcA		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							18.0	15.0	16.0					22																	37637140		876	1991	2867	SO:0001627	intron_variant	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637140C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.107+486G>A	22.37:g.37637140C>T						RAC2_ENST00000406508.1_Intron|RAC2_ENST00000249071.6_Intron|RAC2_ENST00000405484.1_Intron	p.A58A			P15153	RAC2_HUMAN			3	273	-			0					Q9UDJ4	Silent	SNP	ENST00000249071.6	37	c.174G>A	CCDS13945.1																																																																																				0.647	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			4	20	0	0	0	1	0	4	20				
CEP250	11190	broad.mit.edu	37	20	34059913	34059913	+	Silent	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	ENST00000397527.1	+	11	1707	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_ENST00000342580.4_Silent_p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	329					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAAGCATCTCTTAGTAGGA	0.423																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(985-987)tcT>tcC		centrosomal protein 250kDa							166.0	157.0	160.0					20																	34059913		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34059913T>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.987T>C	20.37:g.34059913T>C						CEP250_ENST00000342580.4_Silent_p.S329S	p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		11	1707	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		329					E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.987T>C	CCDS13255.1																																																																																				0.423	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		25	166	0	0	0	1	0	25	166				
LZTR1	8216	broad.mit.edu	37	22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	ENST00000215739.8	+	11	1570	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404			G -> R (in SWNTS2). {ECO:0000269|PubMed:24362817}.		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)			TACATCTTCGGGGGCACGGTG	0.652																																						ENST00000215739.8																			0				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						c.(1210-1212)gGg>gAg		leucine-zipper-like transcription regulator 1							55.0	46.0	49.0					22																	21347144		2200	4300	6500	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21347144G>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.1211G>A	22.37:g.21347144G>A	ENSP00000215739:p.Gly404Glu					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E	p.G404E	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		11	1570	+	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)	404					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1211G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144980	0.94603	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.79749	-1.3;-1.3	4.98	4.98	0.66077	Kelch-type beta propeller (1);	0.104019	0.64402	D	0.000003	D	0.90484	0.7019	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.993;0.992	D;D;D;P	0.77557	0.939;0.99;0.919;0.853	D	0.91883	0.5517	10	0.87932	D	0	-45.2203	13.6201	0.62132	0.0:0.0:1.0:0.0	.	385;363;404;363	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	E	363;404;385	ENSP00000215739:G404E;ENSP00000374006:G385E	ENSP00000215739:G404E	G	+	2	0	LZTR1	19677144	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.529000	0.98049	2.582000	0.87167	0.655000	0.94253	GGG		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		4	12	0	0	0	1	0	4	12				
GSDMD	79792	broad.mit.edu	37	8	144645068	144645068	+	Silent	SNP	C	C	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	ENST00000526406.1	+	14	2332	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	GSDMD_ENST00000533063.1_Silent_p.P531P|GSDMD_ENST00000262580.4_Silent_p.P483P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	483				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1447-1449)ccC>ccA		gasdermin D							23.0	23.0	23.0					8																	144645068		2197	4293	6490	SO:0001819	synonymous_variant	79792							g.chr8:144645068C>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1449C>A	8.37:g.144645068C>A						GSDMD_ENST00000533063.1_Silent_p.P531P|GSDMD_ENST00000262580.4_Silent_p.P483P	p.P483P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			14	2332	+			483	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.1449C>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	7.543	0.661029	0.14645	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.9	-1.74	0.08056	.	2.452250	0.01172	N	0.006884	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05321	-1.0892	5	.	.	.	-1.9863	2.8545	0.05568	0.1304:0.3445:0.3623:0.1628	.	.	.	.	H	176	.	.	P	+	2	0	GSDMD	144716211	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.097000	0.11042	-0.432000	0.07297	0.643000	0.83706	CCC		0.667	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		5	29	1	0	0.00116845	1	0.00122409	5	29				
SUGP1	57794	broad.mit.edu	37	19	19414813	19414813	+	Intron	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:19414813G>A	ENST00000247001.5	-	5	886				SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000334782.5_Missense_Mutation_p.S193L	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AAAACACCATGACGAGGGGGG	0.577																																						ENST00000334782.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(577-579)tCa>tTa		SURP and G patch domain containing 1							219.0	208.0	211.0					19																	19414813		876	1991	2867	SO:0001627	intron_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414813G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.539-157C>T	19.37:g.19414813G>A						SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron	p.S193L			Q8IWZ8	SUGP1_HUMAN			5	590	-			116					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.578C>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174210	0.38413	.	.	ENSG00000105705	ENST00000334782	.	.	.	4.18	-0.803	0.10886	.	.	.	.	.	T	0.28863	0.0716	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37267	-0.9713	5	0.87932	D	0	.	1.4279	0.02327	0.1934:0.3135:0.3327:0.1605	.	.	.	.	L	193	.	ENSP00000334032:S193L	S	-	2	0	SUGP1	19275813	0.007000	0.16637	0.000000	0.03702	0.053000	0.15095	0.964000	0.29306	0.102000	0.17638	0.655000	0.94253	TCA		0.577	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		7	294	0	0	0	1	0	7	294				
TSACC	128229	broad.mit.edu	37	1	156314492	156314492	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:156314492delG	ENST00000368255.3	+	3	516	c.156delG	c.(154-156)ctgfs	p.L52fs	TSACC_ENST00000368253.2_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368254.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000481479.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368252.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000470342.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000466306.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368251.1_Frame_Shift_Del_p.L52fs	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	52						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CAACAAAGCTGCCCTCGGGTA	0.512																																						ENST00000368255.3																			0											c.(154-156)ctfs		TSSK6 activating co-chaperone							79.0	83.0	82.0					1																	156314492		2203	4300	6503	SO:0001589	frameshift_variant	128229							g.chr1:156314492delG	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.156delG	1.37:g.156314492delG	ENSP00000357238:p.Leu52fs					TSACC_ENST00000368253.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368251.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368254.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368252.1_Frame_Shift_Del_p.L52fs	p.L52fs	NM_144627.3	NP_653228.1					3	516	+								D3DVB9	Frame_Shift_Del	DEL	ENST00000368255.3	37	c.156delG	CCDS1141.1																																																																																				0.512	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		15	128						15	128	---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	ENST00000515059.1	+	8	790	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	169					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(505-507)tafs		bone morphogenetic protein receptor, type IB							83.0	82.0	82.0					4																	96046194		2203	4300	6503	SO:0001589	frameshift_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046194delC	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.507delC	4.37:g.96046194delC	ENSP00000426617:p.Tyr169fs					BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs	p.Y169fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	790	+		Hepatocellular(203;0.114)	169					B2R953|B4DSV1|P78366	Frame_Shift_Del	DEL	ENST00000515059.1	37	c.507delC	CCDS3642.1																																																																																				0.408	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		15	50						15	50	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95233957	95233961	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:95233957_95233961delTGGAC	ENST00000237853.4	-	8	1857_1861	c.1508_1512delGTCCA	c.(1507-1512)agtccafs	p.SP503fs	ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	503					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CACTGGAATTTGGACTGGAGTTATT	0.346																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1507-1512)afs		elongation factor, RNA polymerase II, 2																																				SO:0001589	frameshift_variant	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95233957_95233961delTGGAC	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1508_1512delGTCCA	5.37:g.95233957_95233961delTGGAC	ENSP00000237853:p.Ser503fs					ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	p.SP503fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	8	1857_1861	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	503					B4DNK7	Frame_Shift_Del	DEL	ENST00000237853.4	37	c.1508_1512delGTCCA	CCDS4080.1																																																																																				0.346	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		8	89						8	89	---	---	---	---
NANOS1	340719	broad.mit.edu	37	10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788																																						ENST00000425699.1																			0				lung(1)	1						c.(322-324)del		nanos homolog 1 (Drosophila)				3,1375		0,3,686						-0.2	1.0			2	36,3180		2,32,1574	no	coding	NANOS1	NM_199461.2		2,35,2260	A1A1,A1R,RR		1.1194,0.2177,0.8489				39,4555				SO:0001651	inframe_deletion	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120789635_120789637delGAC	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.322_324delGAC	10.37:g.120789644_120789646delGAC	ENSP00000393275:p.Asp112del						p.D112del	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	1	408_410	+		Lung NSC(174;0.094)|all_lung(145;0.123)	112						In_Frame_Del	DEL	ENST00000425699.1	37	c.322_324delGAC	CCDS7607.1																																																																																				0.788	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			2	4						2	4	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:56559113delG	ENST00000267064.4	-	26	3214	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			,,	47,38,3933		0,0,47,2,34,1926	35.0	41.0	39.0		,,	4.5	1.0	12		38	49,80,7671		2,0,45,9,62,3782	no	codingComplex,codingComplex,codingComplex	SMARCC2	NM_139067.2,NM_003075.3,NM_001130420.1	,,	2,0,92,11,96,5708	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6538,2.1155,1.8108	,,	,,	56559113	96,118,11604	2116	4167	6283	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559113delG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3128delC	12.37:g.56559113delG	ENSP00000267064:p.Pro1043fs					SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs	p.P1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.3221delC	CCDS8907.1																																																																																				0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			8	138						8	138	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124829298	124829298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:124829298delC	ENST00000405201.1	-	32	4559	c.4559delG	c.(4558-4560)ggcfs	p.G1520fs	NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.G1527fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1528					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCAATGGAGCCCCCCGAGCT	0.706																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4579-4581)gcfs		nuclear receptor corepressor 2							5.0	7.0	6.0					12																	124829298		1722	3653	5375	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124829298delC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4559delG	12.37:g.124829298delC	ENSP00000384018:p.Gly1520fs					NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.G1520fs	p.G1527fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	33	4735	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1528					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.4580delG	CCDS41858.2																																																																																				0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		6	11						6	11	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457598	15457609	+	In_Frame_Del	DEL	GCTGAGGGTGGA	GCTGAGGGTGGA	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:15457598_15457609delGCTGAGGGTGGA	ENST00000360151.4	-	8	959_970	c.960_971delTCCACCCTCAGC	c.(958-972)gctccaccctcagcg>gcg	p.320_324APPSA>A		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	320	Pro-rich.																ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG	0.509																																						ENST00000360151.4																			0											c.(958-972)gcg>gc		nuclear pore complex interacting protein family, member A5																																				SO:0001651	inframe_deletion	100288332							g.chr16:15457598_15457609delGCTGAGGGTGGA		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.960_971delTCCACCCTCAGC	16.37:g.15457598_15457609delGCTGAGGGTGGA	ENSP00000433597:p.Ala320_Ser323del						p.APPSA320del	NM_001277325.1	NP_001264254.1					8	959_970	-								Q0P618	In_Frame_Del	DEL	ENST00000360151.4	37	c.960_971delTCCACCCTCAGC	CCDS59264.1																																																																																				0.509	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			7	85						7	85	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			4	7						4	7	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			0							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	2						3	2	---	---	---	---
ISX-AS1	101926957	broad.mit.edu	37	22	35411457	35411457	+	RNA	DEL	A	A	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:35411457delA	ENST00000448318.4	-	0	836																											tggatcctggaagagaaaaag	0.512																																						ENST00000448318.4																			0																																																			0							g.chr22:35411457delA																													22.37:g.35411457delA														0	836	-									RNA	DEL	ENST00000448318.4	37																																																																																						0.512	RP1-272J12.1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000467276.1			2	4						2	4	---	---	---	---
