#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_match_norm_validation_allele1	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_tumor_sample
DNAJC11	55735	broad.mit.edu	37	1	6696194	6696194	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:6696194A>G	ENST00000377577.5	-	15	1760	c.1637T>C	c.(1636-1638)cTc>cCc	p.L546P	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Missense_Mutation_p.L456P|DNAJC11_ENST00000294401.7_Missense_Mutation_p.L494P|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.L508P	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	546						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTATCCGGAGGGCCTCACT	0.607																																						uc001aof.2		NaN																	0				ovary(1)|skin(1)	2						c.(1636-1638)CTC>CCC		DnaJ (Hsp40) homolog, subfamily C, member 11							87.0	74.0	78.0					1																	6696194		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696194A>G	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1637T>C	1.37:g.6696194A>G	ENSP00000366800:p.Leu546Pro					DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.L494P|DNAJC11_uc010nzu.1_Missense_Mutation_p.L456P	p.L546P	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	15	1743	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	546					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1637T>C	CCDS87.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251648	0.80135	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.37915	1.88;1.64;1.58;1.17	5.37	5.37	0.77165	DnaJ-like protein C11, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.68577	0.3016	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.997;0.998	T	0.77490	-0.2568	10	0.87932	D	0	-31.6801	14.5644	0.68165	1.0:0.0:0.0:0.0	.	456;494;546	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	P	546;494;508;456	ENSP00000366800:L546P;ENSP00000294401:L494P;ENSP00000444020:L508P;ENSP00000366796:L456P	ENSP00000294401:L494P	L	-	2	0	DNAJC11	6618781	1.000000	0.71417	0.676000	0.29932	0.968000	0.65278	8.737000	0.91562	2.034000	0.60081	0.533000	0.62120	CTC		0.607	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198		8	38	0	0	0	0.00308	0	8	38		
WASF2	10163	broad.mit.edu	37	1	27736473	27736473	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:27736473G>A	ENST00000430629.2	-	8	1267	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	351					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGATGGGGGTGAGGGTGGTGG	0.637																																						uc001bof.1		NaN																	0				skin(2)|ovary(1)	3						c.(1051-1053)TCA>TTA		WAS protein family, member 2							105.0	111.0	109.0					1																	27736473		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736473G>A	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1052C>T	1.37:g.27736473G>A	ENSP00000396211:p.Ser351Leu					WASF2_uc010ofl.1_Intron	p.S351L	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1268	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	351					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.1052C>T	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867196	0.32977	.	.	ENSG00000158195	ENST00000430629	T	0.44083	0.93	4.58	3.59	0.41128	.	0.589886	0.17045	N	0.189142	T	0.29783	0.0744	N	0.25647	0.755	0.80722	D	1	B	0.23058	0.079	B	0.16289	0.015	T	0.08889	-1.0700	10	0.30854	T	0.27	-5.4008	13.6336	0.62210	0.0:0.1566:0.8434:0.0	.	351	Q9Y6W5	WASF2_HUMAN	L	351	ENSP00000396211:S351L	ENSP00000396211:S351L	S	-	2	0	WASF2	27609060	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	4.393000	0.59665	2.095000	0.63458	0.551000	0.68910	TCA		0.637	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1		NM_006990		13	55	0	0	0	0.020292	0	13	55		
PGM1	5236	broad.mit.edu	37	1	64117350	64117350	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:64117350G>A	ENST00000371084.3	+	9	1504	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371083.4_Missense_Mutation_p.E449K|PGM1_ENST00000540265.1_Missense_Mutation_p.E234K	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	431					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTATGATTACGAGGAGGTGGA	0.498																																						uc001dbh.2		NaN																	0				ovary(2)|kidney(1)	3						c.(1291-1293)GAG>AAG		phosphoglucomutase 1							101.0	98.0	99.0					1																	64117350		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64117350G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1291G>A	1.37:g.64117350G>A	ENSP00000360125:p.Glu431Lys					PGM1_uc010ooy.1_Missense_Mutation_p.E234K|PGM1_uc010ooz.1_Missense_Mutation_p.E449K	p.E431K	NM_002633	NP_002624	P36871	PGM1_HUMAN			9	1504	+			431					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.1291G>A	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114152	0.77210	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.55588	0.51;0.51;0.51	5.69	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	H	0.94503	3.545	0.50039	D	0.999849	D;D	0.76494	0.999;0.999	P;P	0.59595	0.86;0.842	T	0.83090	-0.0133	10	0.87932	D	0	-29.7909	16.4741	0.84127	0.0:0.0:0.8679:0.1321	.	449;431	P36871-2;P36871	.;PGM1_HUMAN	K	407;431;234;449	ENSP00000360125:E431K;ENSP00000443449:E234K;ENSP00000360124:E449K	ENSP00000360124:E449K	E	+	1	0	PGM1	63889938	1.000000	0.71417	0.903000	0.35520	0.751000	0.42716	9.813000	0.99286	1.528000	0.49103	0.655000	0.94253	GAG		0.498	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1		NM_002633		10	20	0	0	0	0.006214	0	10	20		
GBP6	163351	broad.mit.edu	37	1	89845982	89845982	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:89845982G>A	ENST00000370456.4	+	6	756	c.663G>A	c.(661-663)agG>agA	p.R221R	GBP6_ENST00000535065.1_Silent_p.R91R	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	221	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTTCCCAGGGAGTGCATCA	0.408																																						uc001dnf.2		NaN																	0				ovary(2)	2						c.(661-663)AGG>AGA		guanylate binding protein family, member 6							87.0	86.0	86.0					1																	89845982		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89845982G>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.663G>A	1.37:g.89845982G>A						GBP6_uc010ost.1_Silent_p.R91R	p.R221R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	6	937	+		Lung NSC(277;0.0908)	221					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.663G>A	CCDS723.1																																																																																				0.408	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1		NM_198460		7	74	0	0	0	0.00308	0	7	74		
SLC6A17	388662	broad.mit.edu	37	1	110709723	110709723	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:110709723G>A	ENST00000331565.4	+	2	657	c.172G>A	c.(172-174)Gag>Aag	p.E58K	RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	58					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGGATGCAGAGGACCGGCC	0.612																																						uc009wfq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(172-174)GAG>AAG		solute carrier family 6, member 17							71.0	58.0	62.0					1																	110709723		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110709723G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.172G>A	1.37:g.110709723G>A	ENSP00000330199:p.Glu58Lys						p.E58K	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	2	633	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	58			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.172G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420455	0.62622	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74315	-0.83	4.68	4.68	0.58851	.	0.051530	0.85682	D	0.000000	T	0.43765	0.1262	N	0.08118	0	0.49915	D	0.99983	B	0.28552	0.215	B	0.25987	0.065	T	0.48068	-0.9067	10	0.35671	T	0.21	.	17.7727	0.88497	0.0:0.0:1.0:0.0	.	58	Q9H1V8	S6A17_HUMAN	K	58	ENSP00000330199:E58K	ENSP00000330199:E58K	E	+	1	0	SLC6A17	110511246	1.000000	0.71417	0.942000	0.38095	0.953000	0.61014	5.460000	0.66691	2.409000	0.81822	0.655000	0.94253	GAG		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2		XM_371280		5	15	0	0	0	0.014758	0	5	15		
BCAS2	10286	broad.mit.edu	37	1	115118216	115118216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:115118216G>T	ENST00000369541.3	-	4	461	c.414C>A	c.(412-414)taC>taA	p.Y138*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	138					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACTCATTGTATACTTTCC	0.343																																						uc001efa.2		NaN																	0				large_intestine(1)	1						c.(412-414)TAC>TAA		breast carcinoma amplified sequence 2							121.0	114.0	116.0					1																	115118216		2203	4300	6503	SO:0001587	stop_gained	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115118216G>T	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.414C>A	1.37:g.115118216G>T	ENSP00000358554:p.Tyr138*					DENND2C_uc001eez.2_RNA	p.Y138*	NM_005872	NP_005863	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	467	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	138			Potential.		Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	c.414C>A	CCDS874.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160507	0.78226	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.61	2.72	0.32119	.	0.171896	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.4553	7.8911	0.29677	0.6793:0.0:0.3207:0.0	.	.	.	.	X	138	.	ENSP00000358554:Y138X	Y	-	3	2	BCAS2	114919739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.381000	0.34362	0.350000	0.24002	-0.313000	0.08912	TAC		0.343	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1		NM_005872		19	49	1	0	1.56452e-12	0.007413	1.70444e-12	19	49		
PHGDH	26227	broad.mit.edu	37	1	120254678	120254678	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:120254678C>T	ENST00000369409.4	+	1	169	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	11					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		AAGTGCTCATCAGTGACAGCC	0.552																																						uc001ehz.2		NaN																	0				ovary(1)	1						c.(31-33)ATC>ATT		phosphoglycerate dehydrogenase	NADH(DB00157)						88.0	85.0	86.0					1																	120254678		2203	4300	6503	SO:0001819	synonymous_variant	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120254678C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.33C>T	1.37:g.120254678C>T						PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Silent_p.I11I|PHGDH_uc009whn.2_Silent_p.I11I	p.I11I	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	260	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	11					B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	37	c.33C>T	CCDS904.1																																																																																				0.552	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1		NM_006623		13	53	0	0	0	0.016723	0	13	53		
GON4L	54856	broad.mit.edu	37	1	155774915	155774915	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:155774915G>A	ENST00000368331.1	-	11	1518	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	GON4L_ENST00000271883.5_Silent_p.L490L|GON4L_ENST00000361040.5_Silent_p.L490L|GON4L_ENST00000437809.1_Silent_p.L490L|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	490					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATGCAATGAGACTGTCAT	0.458																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(1468-1470)CTC>CTT		gon-4-like isoform a							96.0	86.0	90.0					1																	155774915		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155774915G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1470C>T	1.37:g.155774915G>A						GON4L_uc001fly.1_Silent_p.L490L|GON4L_uc009wrh.1_Silent_p.L490L|GON4L_uc001fma.1_Silent_p.L490L|GON4L_uc001fmc.2_Silent_p.L490L|GON4L_uc001fmd.3_Silent_p.L490L|GON4L_uc009wri.2_Silent_p.L76L|GON4L_uc009wrj.1_Silent_p.L5L|GON4L_uc001fme.2_Silent_p.L318L|GON4L_uc001fmf.2_Silent_p.L184L	p.L490L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			11	1567	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		490					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.1470C>T																																																																																					0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		28	56	0	0	0	0.007291	0	28	56		
BTG2	7832	broad.mit.edu	37	1	203276391	203276391	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:203276391C>T	ENST00000290551.4	+	2	373	c.302C>T	c.(301-303)aCc>aTc	p.T101I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	101					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGCGAGCTGACCCTGTGGGTG	0.642																																						uc001gzq.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(301-303)ACC>ATC		B-cell translocation gene 2							48.0	50.0	50.0					1																	203276391		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276391C>T		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.302C>T	1.37:g.203276391C>T	ENSP00000290551:p.Thr101Ile					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.T101I	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	373	+			101					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.302C>T	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640699	0.87859	.	.	ENSG00000159388	ENST00000290551	T	0.30182	1.54	4.89	4.89	0.63831	Anti-proliferative protein (4);	0.000000	0.64402	D	0.000001	T	0.60637	0.2284	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68503	-0.5391	10	0.87932	D	0	-28.0214	16.612	0.84885	0.0:1.0:0.0:0.0	.	101	P78543	BTG2_HUMAN	I	101	ENSP00000290551:T101I	ENSP00000290551:T101I	T	+	2	0	BTG2	201543014	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.487000	0.81328	2.277000	0.76020	0.313000	0.20887	ACC		0.642	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763		6	43	0	0	0	0.021553	0	6	43		
RGS7	6000	broad.mit.edu	37	1	241094020	241094020	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:241094020A>T	ENST00000407727.1	-	5	381	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	RGS7_ENST00000446183.2_Missense_Mutation_p.Y44N|RGS7_ENST00000331110.7_Missense_Mutation_p.Y102N|RGS7_ENST00000366565.1_Missense_Mutation_p.Y128N|RGS7_ENST00000366564.1_Missense_Mutation_p.Y128N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.Y128N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Missense_Mutation_p.Y128N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	128					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CACTGACCATAATCTGTGTTT	0.373																																						uc001hyv.2		NaN																	0				ovary(4)|skin(2)|kidney(1)	7						c.(382-384)TAT>AAT		regulator of G-protein signaling 7							133.0	148.0	143.0					1																	241094020		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241094020A>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.382T>A	1.37:g.241094020A>T	ENSP00000384428:p.Tyr128Asn					RGS7_uc010pyh.1_Missense_Mutation_p.Y102N|RGS7_uc010pyj.1_Missense_Mutation_p.Y44N|RGS7_uc001hyu.2_Missense_Mutation_p.Y128N|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.Y128N	p.Y128N	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		6	712	-		all_cancers(173;0.0131)	128					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.382T>A		.	.	.	.	.	.	.	.	.	.	A	25.4	4.639233	0.87760	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000446183;ENST00000366562;ENST00000407727	T;T;T;T;T;T;T	0.63580	0.1;-0.05;0.02;0.01;0.09;0.02;-0.04	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.997;0.997	D	0.85416	0.1140	10	0.87932	D	0	.	13.9419	0.64059	1.0:0.0:0.0:0.0	.	44;102;128;128;128	B7Z223;B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.;.	N	102;128;128;128;44;128;128	ENSP00000331485:Y102N;ENSP00000355523:Y128N;ENSP00000355522:Y128N;ENSP00000355521:Y128N;ENSP00000390138:Y44N;ENSP00000355520:Y128N;ENSP00000384428:Y128N	ENSP00000331485:Y102N	Y	-	1	0	RGS7	239160643	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.515000	0.90548	2.235000	0.73313	0.533000	0.62120	TAT		0.373	RGS7-204	KNOWN	basic	protein_coding	protein_coding			NM_002924		131	96	0	0	0	0.01441	0	131	96		
OR6F1	343169	broad.mit.edu	37	1	247875460	247875460	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:247875460A>G	ENST00000302084.2	-	1	645	c.598T>C	c.(598-600)Ttt>Ctt	p.F200L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCAATCACAAAGGCCACAAGC	0.537																																						uc001idj.1		NaN																	0					0						c.(598-600)TTT>CTT		olfactory receptor, family 6, subfamily F,							121.0	108.0	113.0					1																	247875460		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875460A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.598T>C	1.37:g.247875460A>G	ENSP00000305640:p.Phe200Leu						p.F200L	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	598	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		200			Helical; Name=5; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.598T>C	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	9.884	1.202328	0.22121	.	.	ENSG00000169214	ENST00000302084	T	0.00042	8.84	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000414	T	0.00300	0.0009	L	0.47016	1.485	0.35454	D	0.795934	D	0.76494	0.999	D	0.79108	0.992	D	0.86870	0.2035	10	0.40728	T	0.16	-35.6542	11.6743	0.51422	1.0:0.0:0.0:0.0	.	200	Q8NGZ6	OR6F1_HUMAN	L	200	ENSP00000305640:F200L	ENSP00000305640:F200L	F	-	1	0	OR6F1	245942083	0.000000	0.05858	0.539000	0.28077	0.120000	0.20174	-0.514000	0.06298	1.672000	0.50884	0.482000	0.46254	TTT		0.537	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286		20	144	0	0	0	0.007413	0	20	144		
OR2T1	26696	broad.mit.edu	37	1	248569879	248569879	+	Missense_Mutation	SNP	T	T	A	rs138350213	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:248569879T>A	ENST00000366474.1	+	1	584	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGATTATAGCAGGTTCC	0.537																																						uc010pzm.1		NaN																	0				pancreas(1)	1						c.(583-585)ATA>AAA		olfactory receptor, family 2, subfamily T,							96.0	94.0	95.0					1																	248569879		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569879T>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.584T>A	1.37:g.248569879T>A	ENSP00000355430:p.Ile195Lys						p.I195K	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	584	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		195			Helical; Name=4; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.584T>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	15.68	2.904376	0.52333	.	.	ENSG00000175143	ENST00000366474	T	0.45668	0.89	4.84	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000884	T	0.52948	0.1766	M	0.77820	2.39	0.09310	N	0.999998	P	0.47191	0.891	P	0.54889	0.763	T	0.45308	-0.9270	10	0.72032	D	0.01	.	7.6734	0.28471	0.0:0.2618:0.0:0.7382	.	195	O43869	OR2T1_HUMAN	K	195	ENSP00000355430:I195K	ENSP00000355430:I195K	I	+	2	0	OR2T1	246636502	0.000000	0.05858	0.019000	0.16419	0.992000	0.81027	0.152000	0.16302	0.350000	0.24002	0.528000	0.53228	ATA		0.537	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2				15	139	0	0	0	0.020292	0	15	139		
ARHGAP21	57584	broad.mit.edu	37	10	24873643	24873643	+	Missense_Mutation	SNP	G	G	A	rs372867428		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:24873643G>A	ENST00000396432.2	-	26	6061	c.5575C>T	c.(5575-5577)Cgc>Tgc	p.R1859C		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1858	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTACTGGTGCGTAGGCGTTCC	0.527																																						uc001isb.2		NaN																	0				ovary(7)|pancreas(1)	8						c.(5575-5577)CGC>TGC		Rho GTPase activating protein 21		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	70.0	71.0		5575	5.5	0.5	10		71	1,8593	1.2+/-3.3	0,1,4296	no	missense	ARHGAP21	NM_020824.3	180	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1859/1959	24873643	2,12998	2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24873643G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5575C>T	10.37:g.24873643G>A	ENSP00000379709:p.Arg1859Cys					ARHGAP21_uc010qdb.1_RNA	p.R1859C	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	6062	-			1858			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5575C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262808	0.39995	2.27E-4	1.16E-4	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.17054	2.3	5.52	5.52	0.82312	.	0.051570	0.85682	D	0.000000	T	0.42177	0.1191	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	P	0.60609	0.877	T	0.33954	-0.9848	10	0.87932	D	0	.	19.4431	0.94831	0.0:0.0:1.0:0.0	.	1858	Q5T5U3	RHG21_HUMAN	C	1859;1308	ENSP00000379709:R1859C	ENSP00000379709:R1859C	R	-	1	0	ARHGAP21	24913649	1.000000	0.71417	0.528000	0.27938	0.105000	0.19272	4.479000	0.60236	2.569000	0.86673	0.655000	0.94253	CGC		0.527	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824		18	74	0	0	0	0.006122	0	18	74		
ARHGAP21	57584	broad.mit.edu	37	10	24873919	24873919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:24873919C>G	ENST00000396432.2	-	26	5785	c.5299G>C	c.(5299-5301)Gat>Cat	p.D1767H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1766	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTAACCGATCTGCTATTTTC	0.463																																						uc001isb.2		NaN																	0				ovary(7)|pancreas(1)	8						c.(5299-5301)GAT>CAT		Rho GTPase activating protein 21							113.0	114.0	114.0					10																	24873919		2202	4300	6502	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24873919C>G	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5299G>C	10.37:g.24873919C>G	ENSP00000379709:p.Asp1767His					ARHGAP21_uc010qdb.1_RNA	p.D1767H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	5786	-			1766			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5299G>C	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007766	0.75046	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.14022	2.54	5.13	5.13	0.70059	.	0.155683	0.56097	D	0.000026	T	0.37293	0.0998	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.19811	-1.0294	10	0.87932	D	0	.	18.5677	0.91122	0.0:1.0:0.0:0.0	.	1766	Q5T5U3	RHG21_HUMAN	H	1767;1216	ENSP00000379709:D1767H	ENSP00000379709:D1767H	D	-	1	0	ARHGAP21	24913925	1.000000	0.71417	0.773000	0.31616	0.973000	0.67179	7.451000	0.80668	2.353000	0.79882	0.591000	0.81541	GAT		0.463	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824		19	86	0	0	0	0.006122	0	19	86		
ZNF438	220929	broad.mit.edu	37	10	31137576	31137576	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:31137576C>T	ENST00000361310.3	-	6	2087	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ZNF438_ENST00000538351.2_Silent_p.L537L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000413025.1_Silent_p.L586L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	586					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478																																						uc010qdz.1		NaN																	0				ovary(1)|breast(1)	2						c.(1756-1758)CTG>CTA		zinc finger protein 438 isoform a							128.0	118.0	121.0					10																	31137576		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137576C>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1758G>A	10.37:g.31137576C>T						ZNF438_uc001ivn.2_Silent_p.L537L|ZNF438_uc010qdy.1_Silent_p.L576L|ZNF438_uc001ivo.3_Silent_p.L150L|ZNF438_uc009xlg.2_Silent_p.L586L|ZNF438_uc001ivp.3_Silent_p.L576L|ZNF438_uc010qea.1_Silent_p.L586L|ZNF438_uc010qeb.1_Silent_p.L586L|ZNF438_uc010qec.1_Silent_p.L150L	p.L586L	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	2193	-		Prostate(175;0.0587)	586			C2H2-type 3.		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1758G>A	CCDS7168.1																																																																																				0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755		31	88	0	0	0	0.008361	0	31	88		
LIPA	3988	broad.mit.edu	37	10	91007301	91007301	+	Missense_Mutation	SNP	C	C	T	rs145756015		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:91007301C>T	ENST00000336233.5	-	2	427	c.105G>A	c.(103-105)atG>atA	p.M35I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.M35I			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	35					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTACCACATTCATGTTTGTTT	0.438																																						uc001kga.3		NaN																	0					0						c.(103-105)ATG>ATA		lipase A precursor		C	ILE/MET,ILE/MET	2,4404	4.2+/-10.8	0,2,2201	111.0	105.0	107.0		105,105	4.9	1.0	10	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LIPA	NM_000235.2,NM_001127605.1	10,10	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	35/400,35/400	91007301	3,13003	2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91007301C>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.105G>A	10.37:g.91007301C>T	ENSP00000337354:p.Met35Ile					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.M35I	p.M35I	NM_000235	NP_000226	P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	2	273	-		Colorectal(252;0.0162)	35					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.105G>A	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439661	0.63067	4.54E-4	1.16E-4	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.94	4.94	0.65067	.	.	.	.	.	T	0.54078	0.1836	N	0.08118	0	0.45403	D	0.998386	P	0.42941	0.794	B	0.41412	0.356	T	0.63668	-0.6585	9	0.87932	D	0	-14.8275	13.8612	0.63561	0.0:1.0:0.0:0.0	.	35	P38571	LICH_HUMAN	I	35	ENSP00000337354:M35I;ENSP00000413019:M35I;ENSP00000388415:M35I;ENSP00000282673:M35I	ENSP00000282673:M35I	M	-	3	0	LIPA	90997281	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.291000	0.59025	2.750000	0.94351	0.561000	0.74099	ATG		0.438	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1		NM_000235		4	21	0	0	0	0.014758	0	4	21		
CPXM2	119587	broad.mit.edu	37	10	125526589	125526589	+	Missense_Mutation	SNP	T	T	C	rs373921701		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:125526589T>C	ENST00000241305.3	-	10	1533	c.1379A>G	c.(1378-1380)aAc>aGc	p.N460S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	460					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGCAGCGTGTTTAAATCAGG	0.527																																						uc001lhk.1		NaN																	0				ovary(2)	2						c.(1378-1380)AAC>AGC		carboxypeptidase X (M14 family), member 2		T	SER/ASN	0,4406		0,0,2203	143.0	133.0	137.0		1379	4.7	1.0	10		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPXM2	NM_198148.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	460/757	125526589	1,13005	2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526589T>C	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1379A>G	10.37:g.125526589T>C	ENSP00000241305:p.Asn460Ser					CPXM2_uc001lhj.2_RNA	p.N460S	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1704	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	460					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1379A>G	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895944	0.72639	0.0	1.16E-4	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.12361	2.69	4.69	4.69	0.59074	Peptidase M14, carboxypeptidase A (2);	0.047876	0.85682	D	0.000000	T	0.32793	0.0841	M	0.66939	2.045	0.80722	D	1	D	0.56035	0.974	P	0.61940	0.896	T	0.06643	-1.0815	10	0.72032	D	0.01	-16.54	14.3378	0.66603	0.0:0.0:0.0:1.0	.	460	Q8N436	CPXM2_HUMAN	S	460;293;460	ENSP00000241305:N460S	ENSP00000241305:N460S	N	-	2	0	CPXM2	125516579	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.978000	0.63799	1.961000	0.56991	0.528000	0.53228	AAC		0.527	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1		NM_198148		12	57	0	0	0	0.016723	0	12	57		
EBF3	253738	broad.mit.edu	37	10	131640400	131640400	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:131640400G>A	ENST00000355311.5	-	13	1424	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	EBF3_ENST00000368648.3_Missense_Mutation_p.T442M|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	451					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T442M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGCTTGTGACGTCTCTGACAC	0.597																																						uc001lki.1		NaN																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|pancreas(1)	2						c.(1324-1326)ACG>ATG		early B-cell factor 3							267.0	191.0	217.0					10																	131640400		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640400G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1352C>T	10.37:g.131640400G>A	ENSP00000347463:p.Thr451Met						p.T442M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1384	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	451					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1325C>T		.	.	.	.	.	.	.	.	.	.	G	19.32	3.804454	0.70682	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.46063	0.88;0.88	5.28	5.28	0.74379	.	0.049107	0.85682	D	0.000000	T	0.46288	0.1385	L	0.46157	1.445	0.50467	D	0.999874	P	0.40534	0.72	B	0.43360	0.417	T	0.47209	-0.9135	10	0.62326	D	0.03	-13.6366	19.2947	0.94117	0.0:0.0:1.0:0.0	.	442	Q9H4W6-2	.	M	451;442	ENSP00000347463:T451M;ENSP00000357637:T442M	ENSP00000347463:T451M	T	-	2	0	EBF3	131530390	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	8.143000	0.89621	2.632000	0.89209	0.655000	0.94253	ACG		0.597	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2		NM_001005463		23	73	0	0	0	0.014323	0	23	73		
PAOX	196743	broad.mit.edu	37	10	135202547	135202547	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:135202547C>T	ENST00000480071.2	+	4	986	c.956C>T	c.(955-957)tCa>tTa	p.S319L	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000278060.5_Silent_p.L403L|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.L403L|RP11-108K14.8_ENST00000468317.2_5'Flank	NM_207127.1	NP_997010.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TTCTGTGTCTCACCCAAGTGC	0.502																																						uc001lmv.2		NaN																	0					0						c.(1207-1209)CTC>CTT		polyamine oxidase isoform 1							209.0	203.0	205.0					10																	135202547		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135202547C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000480071.2:c.956C>T	10.37:g.135202547C>T	ENSP00000435514:p.Ser319Leu					PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.L403L|PAOX_uc001lmy.2_Missense_Mutation_p.S319L|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	p.L403L	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	5	1289	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	541					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000480071.2	37	c.1209C>T	CCDS7684.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.448741	0.43531	.	.	ENSG00000148832	ENST00000480071	.	.	.	5.54	-2.48	0.06423	.	.	.	.	.	T	0.66096	0.2755	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.66052	-0.6019	6	.	.	.	-12.9717	6.5778	0.22577	0.2661:0.469:0.2648:0.0	.	319	Q6QHF9-5	.	L	319	.	.	S	+	2	0	PAOX	135052537	0.929000	0.31497	0.440000	0.26846	0.021000	0.10359	0.037000	0.13840	-0.083000	0.12618	-1.193000	0.01689	TCA		0.502	PAOX-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390367.1		NM_152911		13	210	0	0	0	0.016723	0	13	210		
CCKBR	887	broad.mit.edu	37	11	6290930	6290930	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:6290930C>T	ENST00000334619.2	+	2	376	c.183C>T	c.(181-183)taC>taT	p.Y61Y	CCKBR_ENST00000525014.1_Silent_p.Y61Y|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Silent_p.Y61Y|CCKBR_ENST00000531712.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	61					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCACTCTTTACGCAGTGATCT	0.532																																						uc001mcp.2		NaN																	0				lung(5)|ovary(2)|breast(1)	8						c.(181-183)TAC>TAT		cholecystokinin B receptor	Pentagastrin(DB00183)						103.0	91.0	95.0					11																	6290930		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6290930C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.183C>T	11.37:g.6290930C>T						CCKBR_uc001mcq.2_Translation_Start_Site|CCKBR_uc001mcr.2_Silent_p.Y61Y|CCKBR_uc001mcs.2_Silent_p.Y61Y	p.Y61Y	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	376	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	61			Helical; Name=1; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.183C>T	CCDS7761.1																																																																																				0.532	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2		NM_176875		17	64	0	0	0	0.028581	0	17	64		
CD6	923	broad.mit.edu	37	11	60781397	60781397	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:60781397C>T	ENST00000313421.7	+	8	1484	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	CD6_ENST00000452451.2_Missense_Mutation_p.P433L|CD6_ENST00000344028.5_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Intron|CD6_ENST00000352009.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	433					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCAGCCCTCCCCGTAATGGTG	0.557																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NaN																	0				pancreas(1)	1						c.(1297-1299)CCC>CTC		CD6 molecule precursor							79.0	70.0	73.0					11																	60781397		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60781397C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1298C>T	11.37:g.60781397C>T	ENSP00000323280:p.Pro433Leu					CD6_uc001nqp.2_Missense_Mutation_p.P433L|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P433L	p.P433L	NM_006725	NP_006716	P30203	CD6_HUMAN			8	1521	+			433			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1298C>T	CCDS7999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.329513|4.329513	0.81690|0.81690	.|.	.|.	ENSG00000013725|ENSG00000013725	ENST00000313421;ENST00000452451|ENST00000538611	T;T|T	0.02345|0.01548	4.33;4.52|4.78	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|0.000000	0.37483|0.37483	N|N	0.002071|0.002071	T|T	0.07683|0.07683	0.0193|0.0193	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.997|.	T|T	0.01087|0.01087	-1.1456|-1.1456	10|8	0.72032|0.87932	D|D	0.01|0	.|.	15.8707|15.8707	0.79117|0.79117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	433;433;433|.	P30203-5;P30203;Q8N4Q7|.	.;CD6_HUMAN;.|.	L|S	433|176	ENSP00000323280:P433L;ENSP00000390676:P433L|ENSP00000443747:P176S	ENSP00000323280:P433L|ENSP00000443747:P176S	P|P	+|+	2|1	0|0	CD6|CD6	60537973|60537973	0.953000|0.953000	0.32496|0.32496	0.947000|0.947000	0.38551|0.38551	0.984000|0.984000	0.73092|0.73092	2.398000|2.398000	0.44486|0.44486	2.469000|2.469000	0.83416|0.83416	0.467000|0.467000	0.42956|0.42956	CCC|CCG		0.557	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1		NM_006725		6	29	0	0	0	0.021553	0	6	29		
OMP	4975	broad.mit.edu	37	11	76814045	76814045	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:76814045C>T	ENST00000529803.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R54C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGTGTACCGCCTCAACTT	0.637																																						uc010rsk.1		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(160-162)CGC>TGC		olfactory marker protein							39.0	51.0	47.0					11																	76814045		2156	4260	6416	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814045C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.160C>T	11.37:g.76814045C>T	ENSP00000436376:p.Arg54Cys					CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.R54C	NM_006189	NP_006180	P47874	OMP_HUMAN			1	160	+			54					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.160C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535669	0.45176	.	.	ENSG00000254550	ENST00000529803	T	0.36520	1.25	5.12	5.12	0.69794	.	.	.	.	.	T	0.48352	0.1495	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.78314	0.991	T	0.42137	-0.9469	9	0.52906	T	0.07	.	14.3251	0.66515	0.1485:0.8515:0.0:0.0	.	54	P47874	OMP_HUMAN	C	54	ENSP00000436376:R54C	ENSP00000436376:R54C	R	+	1	0	OMP	76491693	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	1.754000	0.38369	2.675000	0.91044	0.462000	0.41574	CGC		0.637	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1		NM_006189		6	30	0	0	0	0.021553	0	6	30		
IQSEC3	440073	broad.mit.edu	37	12	266745	266745	+	Silent	SNP	C	C	T	rs372227493		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:266745C>T	ENST00000538872.1	+	7	2446	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	IQSEC3_ENST00000326261.4_Silent_p.P776P|IQSEC3_ENST00000382841.2_Silent_p.P473P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	776	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCACAACCCCGACACCATCT	0.602																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1417-1419)CCC>CCT		IQ motif and Sec7 domain 3		C	,	1,4405	2.1+/-5.4	0,1,2202	307.0	209.0	242.0		2328,1419	-9.0	0.5	12		242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IQSEC3	NM_001170738.1,NM_015232.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	776/1183,473/760	266745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266745C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2328C>T	12.37:g.266745C>T						IQSEC3_uc001qhu.1_Silent_p.P473P	p.P473P	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1425	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		776			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1419C>T	CCDS53728.1																																																																																				0.602	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		5	84	0	0	0	0.014758	0	5	84		
GUCY2C	2984	broad.mit.edu	37	12	14767865	14767865	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:14767865C>T	ENST00000261170.3	-	26	3119	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	995					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TAGGTAGTCTCATTTCCTCTT	0.483																																						uc001rcd.2		NaN																	0				ovary(4)|skin(2)	6						c.(2983-2985)GAG>AAG		guanylate cyclase 2C precursor							137.0	93.0	108.0					12																	14767865		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14767865C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2983G>A	12.37:g.14767865C>T	ENSP00000261170:p.Glu995Lys						p.E995K	NM_004963	NP_004954	P25092	GUC2C_HUMAN			26	3120	-			995			Cytoplasmic (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2983G>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483333	0.96307	.	.	ENSG00000070019	ENST00000261170	D	0.84298	-1.83	6.08	6.08	0.98989	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	L	0.37800	1.135	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.88151	0.2851	10	0.44086	T	0.13	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	995	P25092	GUC2C_HUMAN	K	995	ENSP00000261170:E995K	ENSP00000261170:E995K	E	-	1	0	GUCY2C	14659132	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.425000	0.66470	2.894000	0.99253	0.655000	0.94253	GAG		0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1				4	21	0	0	0	0.009096	0	4	21		
ANKS1B	56899	broad.mit.edu	37	12	100200436	100200436	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:100200436C>T	ENST00000547776.2	-	4	414	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G139R|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	139						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGAGTGTCCATATTGAGCT	0.398																																						uc001tge.1		NaN																	0					0						c.(415-417)GGA>AGA		cajalin 2 isoform a							114.0	108.0	110.0					12																	100200436		1917	4138	6055	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200436C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.415G>A	12.37:g.100200436C>T	ENSP00000449629:p.Gly139Arg					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G139R	p.G139R	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	4	832	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	139			ANK 4.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.415G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873521	0.91664	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.73258	0.14;0.14;-0.73	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81835	-0.0750	9	.	.	.	-11.88	18.9275	0.92550	0.0:1.0:0.0:0.0	.	139;139	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	R	139	ENSP00000449629:G139R;ENSP00000331381:G139R;ENSP00000449894:G139R	.	G	-	1	0	ANKS1B	98724567	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.802000	0.85969	2.467000	0.83353	0.557000	0.71058	GGA		0.398	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		11	35	0	0	0	0.008291	0	11	35		
ZCCHC8	55596	broad.mit.edu	37	12	122958344	122958344	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:122958344C>G	ENST00000336229.4	-	14	1954	c.1824G>C	c.(1822-1824)caG>caC	p.Q608H	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q370H|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q370H|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q219H	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	608					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTTTTTCCTTCTGACAAAGTG	0.493																																						uc001ucn.2		NaN																	0					0						c.(1822-1824)CAG>CAC		zinc finger, CCHC domain containing 8							148.0	144.0	145.0					12																	122958344		1923	4136	6059	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958344C>G	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1824G>C	12.37:g.122958344C>G	ENSP00000337313:p.Gln608His					ZCCHC8_uc001ucl.2_Missense_Mutation_p.Q219H|ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q370H	p.Q608H	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1955	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		608					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1824G>C		.	.	.	.	.	.	.	.	.	.	C	12.71	2.020410	0.35606	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.48201	0.82;0.82;0.83;0.82	5.57	3.43	0.39272	.	0.434461	0.27155	N	0.020672	T	0.42063	0.1186	M	0.63428	1.95	0.09310	N	1	P	0.45283	0.855	P	0.44732	0.459	T	0.42632	-0.9440	10	0.45353	T	0.12	-8.601	1.744	0.02958	0.314:0.4101:0.0:0.2759	.	608	Q6NZY4	ZCHC8_HUMAN	H	370;370;608;219	ENSP00000441423:Q370H;ENSP00000438993:Q370H;ENSP00000337313:Q608H;ENSP00000440028:Q219H	ENSP00000337313:Q608H	Q	-	3	2	ZCCHC8	121524297	0.051000	0.20477	0.002000	0.10522	0.079000	0.17450	1.352000	0.34033	1.289000	0.44618	0.650000	0.86243	CAG		0.493	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		52	147	0	0	0	0.01441	0	52	147		
FGF14	2259	broad.mit.edu	37	13	102527614	102527614	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr13:102527614A>G	ENST00000376143.4	-	2	225	c.226T>C	c.(226-228)Tat>Cat	p.Y76H	FGF14_ENST00000376131.4_Missense_Mutation_p.Y81H|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	76					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCCTGCAATATAACCTGGTC	0.448																																						uc001vpe.2		NaN																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(226-228)TAT>CAT		fibroblast growth factor 14 isoform 1A							171.0	150.0	157.0					13																	102527614		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102527614A>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.226T>C	13.37:g.102527614A>G	ENSP00000365313:p.Tyr76His					FGF14_uc001vpf.2_Missense_Mutation_p.Y81H	p.Y76H	NM_004115	NP_004106	Q92915	FGF14_HUMAN			2	226	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		76					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.226T>C	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507762	0.85282	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.86562	-2.14;-2.14	5.38	5.38	0.77491	.	0.179902	0.50627	D	0.000105	D	0.93822	0.8024	M	0.86343	2.81	0.80722	D	1	D;D	0.56035	0.974;0.963	P;D	0.65443	0.866;0.935	D	0.94754	0.7930	10	0.72032	D	0.01	.	15.6872	0.77421	1.0:0.0:0.0:0.0	.	81;76	Q92915-2;Q92915	.;FGF14_HUMAN	H	81;76	ENSP00000365301:Y81H;ENSP00000365313:Y76H	ENSP00000365301:Y81H	Y	-	1	0	FGF14	101325615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.155000	0.67459	0.460000	0.39030	TAT		0.448	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2				12	45	0	0	0	0.016723	0	12	45		
MBIP	51562	broad.mit.edu	37	14	36789701	36789701	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:36789701C>T	ENST00000416007.4	-	1	181	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	MBIP_ENST00000359527.7_Missense_Mutation_p.E32K|MBIP_ENST00000318473.7_Missense_Mutation_p.E32K	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	32					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		CGAAAGATTTCGTAGAGCACC	0.567																																						uc001wtm.2		NaN																	0					0						c.(94-96)GAA>AAA		MAP3K12 binding inhibitory protein 1 isoform 1							87.0	76.0	80.0					14																	36789701		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789701C>T	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.94G>A	14.37:g.36789701C>T	ENSP00000399718:p.Glu32Lys					MBIP_uc001wto.2_Missense_Mutation_p.E32K|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.E32K	p.E32K	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	1	182	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		32					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.94G>A	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.644663|1.644663	0.29246|0.29246	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977;ENST00000553549	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.432568|.	0.24815|.	N|.	0.035361|.	T|T	0.40272|0.40272	0.1110|0.1110	L|L	0.40543|0.40543	1.245|1.245	0.28265|0.28265	N|N	0.92465|0.92465	P;P;P|.	0.42871|.	0.792;0.792;0.792|.	B;B;B|.	0.34385|.	0.181;0.181;0.181|.	T|T	0.25187|0.25187	-1.0139|-1.0139	10|5	0.12766|.	T|.	0.61|.	-11.9086|-11.9086	9.6566|9.6566	0.39930|0.39930	0.0:0.9071:0.0:0.0929|0.0:0.9071:0.0:0.0929	.|.	32;32;32|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	K|Q	32|28;12	ENSP00000399718:E32K;ENSP00000324444:E32K;ENSP00000352517:E32K|.	ENSP00000324444:E32K|.	E|R	-|-	1|2	0|0	MBIP|MBIP	35859452|35859452	0.948000|0.948000	0.32251|0.32251	0.997000|0.997000	0.53966|0.53966	0.461000|0.461000	0.32589|0.32589	2.176000|2.176000	0.42500|0.42500	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.567	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2		NM_016586		9	30	0	0	0	0.004482	0	9	30		
SFTA3	253970	broad.mit.edu	37	14	36946212	36946212	+	Silent	SNP	C	C	T	rs375016869		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:36946212C>T	ENST00000518529.2	-	3	900	c.225G>A	c.(223-225)acG>acA	p.T75T	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	75										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GTGACAGCGTCGTGGGATGCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20215	0.001		0.0	False		,,,				2504	0.0					uc001wtr.2		NaN																	0					0						c.(223-225)ACG>ACA		surfactant associated 3							198.0	206.0	203.0					14																	36946212		2143	4249	6392	SO:0001819	synonymous_variant	253970							g.chr14:36946212C>T	AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.225G>A	14.37:g.36946212C>T						SFTA3_uc001wtq.2_RNA|SFTA3_uc001wts.2_RNA	p.T75T	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN			3	857	-			75						Silent	SNP	ENST00000518529.2	37	c.225G>A	CCDS45097.1																																																																																				0.532	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376217.2		NM_001101341		8	111	0	0	0	0.006214	0	8	111		
DAAM1	23002	broad.mit.edu	37	14	59798179	59798179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:59798179C>T	ENST00000395125.1	+	13	1836	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	DAAM1_ENST00000351081.1_Nonsense_Mutation_p.Q605*|DAAM1_ENST00000360909.3_Nonsense_Mutation_p.Q605*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	605	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAGCATTCCTCAGCCCACAAA	0.532																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(1813-1815)CAG>TAG		dishevelled-associated activator of							78.0	85.0	82.0					14																	59798179		2203	4300	6503	SO:0001587	stop_gained	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59798179C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1813C>T	14.37:g.59798179C>T	ENSP00000378557:p.Gln605*					DAAM1_uc001xea.1_Nonsense_Mutation_p.Q605*	p.Q605*	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	14	1938	+			605			FH2.		Q86U34|Q8N1Z8|Q8TB39	Nonsense_Mutation	SNP	ENST00000395125.1	37	c.1813C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	42	9.706133	0.99244	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	6.16	6.16	0.99307	.	0.048303	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	.	.	.	X	605	.	ENSP00000247170:Q605X	Q	+	1	0	DAAM1	58867932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.937000	0.99478	0.650000	0.86243	CAG		0.532	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		25	81	0	0	0	0.01892	0	25	81		
CHD9	80205	broad.mit.edu	37	16	53348844	53348844	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr16:53348844A>G	ENST00000398510.3	+	35	7559	c.7472A>G	c.(7471-7473)aAt>aGt	p.N2491S	CHD9_ENST00000564845.1_Missense_Mutation_p.N2475S|CHD9_ENST00000566029.1_Missense_Mutation_p.N2475S|CHD9_ENST00000447540.1_Missense_Mutation_p.N2476S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2491					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCAGTTATTAATCTTAAAGAT	0.428																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(7471-7473)AAT>AGT		chromodomain helicase DNA binding protein 9							103.0	96.0	98.0					16																	53348844		1818	4084	5902	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53348844A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7472A>G	16.37:g.53348844A>G	ENSP00000381522:p.Asn2491Ser					CHD9_uc002egy.2_Missense_Mutation_p.N2475S|CHD9_uc002ehc.2_Missense_Mutation_p.N2476S|CHD9_uc002ehf.2_Missense_Mutation_p.N1589S|CHD9_uc010cbw.2_Missense_Mutation_p.N557S	p.N2491S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			35	7636	+		all_cancers(37;0.0212)	2491					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7472A>G		.	.	.	.	.	.	.	.	.	.	A	14.40	2.523090	0.44866	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T	0.57752	0.38	5.82	5.82	0.92795	BRK domain (2);	0.183299	0.37348	N	0.002124	T	0.52025	0.1709	L	0.28458	0.855	0.41585	D	0.988765	P;B;P;P	0.48350	0.549;0.031;0.909;0.862	B;B;P;B	0.49528	0.246;0.017;0.614;0.399	T	0.54866	-0.8229	10	0.52906	T	0.07	-6.4683	16.1839	0.81934	1.0:0.0:0.0:0.0	.	557;2476;2491;2475	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	2476;2475;557	ENSP00000396345:N2476S	ENSP00000381522:N2475S	N	+	2	0	CHD9	51906345	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.911000	0.69939	2.222000	0.72286	0.533000	0.62120	AAT		0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		19	54	0	0	0	0.006122	0	19	54		
SLC13A5	284111	broad.mit.edu	37	17	6606437	6606437	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:6606437C>T	ENST00000433363.2	-	5	801	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	SLC13A5_ENST00000293800.6_Missense_Mutation_p.G173S|SLC13A5_ENST00000381074.4_Missense_Mutation_p.G147S|SLC13A5_ENST00000573648.1_Missense_Mutation_p.G190S	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	190					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGAGTGGGGCCTTCAAAAATC	0.627																																						uc002gdj.2		NaN																	0					0						c.(568-570)GGC>AGC		solute carrier family 13, member 5 isoform a							97.0	84.0	88.0					17																	6606437		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606437C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.568G>A	17.37:g.6606437C>T	ENSP00000406220:p.Gly190Ser					SLC13A5_uc010vtf.1_Missense_Mutation_p.G190S|SLC13A5_uc010clq.2_Missense_Mutation_p.G147S|SLC13A5_uc002gdk.2_Missense_Mutation_p.G173S|SLC13A5_uc002gdl.1_Missense_Mutation_p.G172S	p.G190S	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			5	656	-			190					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.568G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462531	0.63513	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.04809	3.98;3.55	4.86	4.86	0.63082	.	0.848082	0.11088	N	0.601030	T	0.03095	0.0091	N	0.04705	-0.18	0.44515	D	0.997466	B;B;B;B;B	0.18310	0.001;0.008;0.027;0.008;0.008	B;B;B;B;B	0.19666	0.012;0.007;0.012;0.012;0.026	T	0.43798	-0.9369	10	0.08837	T	0.75	.	14.2141	0.65781	0.0:1.0:0.0:0.0	.	190;147;147;173;190	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	S	190;190;147	ENSP00000406220:G190S;ENSP00000370464:G147S	ENSP00000293800:G190S	G	-	1	0	SLC13A5	6547161	0.864000	0.29904	0.951000	0.38953	0.158000	0.22134	3.351000	0.52232	2.636000	0.89361	0.561000	0.74099	GGC		0.627	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2		NM_177550		5	56	0	0	0	0.014758	0	5	56		
ACAP1	9744	broad.mit.edu	37	17	7253548	7253548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:7253548C>G	ENST00000158762.3	+	20	2270	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|ACAP1_ENST00000574499.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	688	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						ACGCTGACATCGTCACCCTGT	0.672																																						uc002ggd.2		NaN																	0				breast(2)|large_intestine(1)	3						c.(2062-2064)ATC>ATG		centaurin beta1							64.0	63.0	63.0					17																	7253548		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7253548C>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2064C>G	17.37:g.7253548C>G	ENSP00000158762:p.Ile688Met					KCTD11_uc002gge.3_5'Flank	p.I688M	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			20	2270	+			688			Required for interaction with GULP1.|ANK 3.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.2064C>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846059	0.71603	.	.	ENSG00000072818	ENST00000158762	T	0.37235	1.21	5.16	3.12	0.35913	Ankyrin repeat-containing domain (3);	0.105542	0.64402	D	0.000005	T	0.58380	0.2118	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60860	-0.7179	10	0.59425	D	0.04	.	7.3081	0.26459	0.0:0.7312:0.0:0.2688	.	688	Q15027	ACAP1_HUMAN	M	688	ENSP00000158762:I688M	ENSP00000158762:I688M	I	+	3	3	ACAP1	7194272	0.967000	0.33354	1.000000	0.80357	0.984000	0.73092	0.109000	0.15417	1.393000	0.46605	0.448000	0.29417	ATC		0.672	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4		NM_014716		14	37	0	0	0	0.016723	0	14	37		
MYO18A	399687	broad.mit.edu	37	17	27447754	27447754	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:27447754G>A	ENST00000527372.1	-	7	1788	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	MYO18A_ENST00000354329.4_Silent_p.Y536Y|MYO18A_ENST00000531253.1_Silent_p.Y536Y|MYO18A_ENST00000533112.1_Silent_p.Y536Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	536	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGGAGGGTGTACAGAGCCT	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(1606-1608)TAC>TAT		myosin 18A isoform a							58.0	68.0	64.0					17																	27447754		2040	4184	6224	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27447754G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1608C>T	17.37:g.27447754G>A						MYO18A_uc010wbc.1_Silent_p.Y78Y|MYO18A_uc002hds.2_Silent_p.Y78Y|MYO18A_uc010csa.1_Silent_p.Y536Y|MYO18A_uc002hdu.1_Silent_p.Y536Y|MYO18A_uc010wbd.1_Silent_p.Y205Y	p.Y536Y	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		7	1766	-			536			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.1608C>T	CCDS45642.1																																																																																				0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		9	59	0	0	0	0.010729	0	9	59		
ABCC3	8714	broad.mit.edu	37	17	48755296	48755296	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:48755296C>T	ENST00000285238.8	+	24	3650	c.3570C>T	c.(3568-3570)atC>atT	p.I1190I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1190	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTACATCATCTCCAACCGGT	0.577																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(3568-3570)ATC>ATT		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						75.0	81.0	79.0					17																	48755296		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48755296C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3570C>T	17.37:g.48755296C>T						ABCC3_uc002isn.2_5'Flank	p.I1190I	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		24	3650	+			1190			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.3570C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	1.805	-0.476012	0.04414	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.61	4.56	0.56223	.	.	.	.	.	T	0.45458	0.1343	.	.	.	0.38392	D	0.945428	.	.	.	.	.	.	T	0.50857	-0.8778	4	.	.	.	-2.906	2.1237	0.03732	0.3926:0.35:0.1474:0.1099	.	.	.	.	F	294	.	.	L	+	1	0	ABCC3	46110295	0.067000	0.21026	0.963000	0.40424	0.315000	0.28087	-0.160000	0.10041	2.635000	0.89317	0.655000	0.94253	CTC		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		21	149	0	0	0	0.008871	0	21	149		
INSR	3643	broad.mit.edu	37	19	7117211	7117211	+	Silent	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:7117211A>G	ENST00000302850.5	-	22	4147	c.4005T>C	c.(4003-4005)tgT>tgC	p.C1335C	INSR_ENST00000341500.5_Silent_p.C1323C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1335					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTCCCTCTGACAGTGCGAGG	0.597																																						uc002mgd.1		NaN																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(4003-4005)TGT>TGC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	70.0	73.0					19																	7117211		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117211A>G	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4005T>C	19.37:g.7117211A>G						INSR_uc002mge.1_Silent_p.C1323C	p.C1335C	NM_000208	NP_000199	P06213	INSR_HUMAN			22	4114	-			1335			Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.4005T>C	CCDS12176.1																																																																																				0.597	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				29	56	0	0	0	0.027356	0	29	56		
FBN3	84467	broad.mit.edu	37	19	8188893	8188893	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:8188893C>G	ENST00000600128.1	-	23	3146		c.e23-1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATCTCACATCTGCACGGGGG	0.617																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.e22-1		fibrillin 3 precursor							94.0	52.0	66.0					19																	8188893		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188893C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2732-1G>C	19.37:g.8188893C>G							p.D911_splice	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			22	2753	-								Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Splice_Site	SNP	ENST00000600128.1	37	c.2732_splice	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289998	0.40494	.	.	ENSG00000142449	ENST00000270509	.	.	.	3.44	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2398	0.65950	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN3	8094893	1.000000	0.71417	0.096000	0.21009	0.022000	0.10575	6.976000	0.76135	1.651000	0.50673	0.436000	0.28706	.		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	Intron	9	15	0	0	0	0.004482	0	9	15		
CLIP3	25999	broad.mit.edu	37	19	36508845	36508845	+	Missense_Mutation	SNP	C	C	T	rs149100841		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:36508845C>T	ENST00000360535.4	-	10	1459	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	CLIP3_ENST00000593074.1_Missense_Mutation_p.R411H|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	411					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCCCGTCACGCTGCTGCAA	0.612																																						uc010eeq.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1231-1233)CGT>CAT		CAP-GLY domain containing linker protein 3		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78.0	75.0	76.0		1232,1232	4.6	0.9	19	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CLIP3	NM_001199570.1,NM_015526.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	411/548,411/548	36508845	2,13004	2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508845C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1232G>A	19.37:g.36508845C>T	ENSP00000353732:p.Arg411His					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R411H	p.R411H	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1514	-	Esophageal squamous(110;0.162)		411					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1232G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117144	0.56505	0.0	2.33E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74632	-0.86	4.55	4.55	0.56014	Cytoskeleton-associated protein, Gly-rich domain (1);	0.178543	0.41396	D	0.000894	T	0.52468	0.1736	N	0.08118	0	0.29403	N	0.861766	D	0.56287	0.975	B	0.39027	0.288	T	0.58171	-0.7683	10	0.48119	T	0.1	-13.1701	12.6653	0.56837	0.0:1.0:0.0:0.0	.	411	Q96DZ5	CLIP3_HUMAN	H	411;293;387	ENSP00000353732:R411H	ENSP00000353732:R411H	R	-	2	0	CLIP3	41200685	0.986000	0.35501	0.933000	0.37362	0.815000	0.46073	3.050000	0.49877	2.363000	0.80096	0.561000	0.74099	CGT		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1		NM_015526		14	49	0	0	0	0.020292	0	14	49		
ATP1A3	478	broad.mit.edu	37	19	42486133	42486133	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:42486133C>A	ENST00000302102.5	-	9	1269	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q384H|ATP1A3_ENST00000545399.1_Missense_Mutation_p.Q386H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q343H	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	373					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCATGCGGTTCTGAGTGAGGG	0.597																																						uc002osg.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1117-1119)CAG>CAT		Na+/K+ -ATPase alpha 3 subunit							230.0	195.0	206.0					19																	42486133		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42486133C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1119G>T	19.37:g.42486133C>A	ENSP00000302397:p.Gln373His					ATP1A3_uc010xwf.1_Missense_Mutation_p.Q384H|ATP1A3_uc010xwg.1_Missense_Mutation_p.Q343H|ATP1A3_uc010xwh.1_Missense_Mutation_p.Q386H|ATP1A3_uc002osh.2_Missense_Mutation_p.Q373H	p.Q373H	NM_152296	NP_689509	P13637	AT1A3_HUMAN			9	1273	-			373			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1119G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396307	0.83011	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.21	4.21	0.49690	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93341	0.7877	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.95031	0.8169	10	0.87932	D	0	.	14.4662	0.67485	0.0:1.0:0.0:0.0	.	386;384;373;373	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	H	373;373;386;343;117;384	ENSP00000302397:Q373H;ENSP00000411503:Q373H;ENSP00000444688:Q386H;ENSP00000437577:Q384H	ENSP00000302397:Q373H	Q	-	3	2	ATP1A3	47177973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.921000	0.56454	2.357000	0.79964	0.561000	0.74099	CAG		0.597	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1		NM_152296		8	177	1	0	0.000442599	0.006214	0.000456218	8	177		
IZUMO2	126123	broad.mit.edu	37	19	50666025	50666025	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:50666025G>A	ENST00000293405.3	-	2	278	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	93						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TAAGTGCTGCGTTTGGTTCTT	0.567																																						uc002prp.1		NaN																	0					0						c.(277-279)ACG>ATG		hypothetical protein LOC126123 precursor							136.0	133.0	134.0					19																	50666025		1985	4170	6155	SO:0001583	missense	126123					integral to membrane		g.chr19:50666025G>A	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.278C>T	19.37:g.50666025G>A	ENSP00000293405:p.Thr93Met						p.T93M	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	2	365	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	93			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.278C>T	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	G	12.60	1.988114	0.35036	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.21191	2.02	3.9	-1.1	0.09872	.	0.571615	0.14909	N	0.291367	T	0.08492	0.0211	L	0.32530	0.975	0.09310	N	1	P	0.43431	0.807	B	0.24848	0.056	T	0.27502	-1.0072	10	0.33940	T	0.23	-16.0112	3.4705	0.07565	0.387:0.1992:0.4138:0.0	.	93	Q6UXV1	IZUM2_HUMAN	M	93	ENSP00000293405:T93M	ENSP00000293405:T93M	T	-	2	0	IZUMO2	55357837	0.397000	0.25270	0.000000	0.03702	0.002000	0.02628	0.758000	0.26447	-0.086000	0.12550	0.650000	0.86243	ACG		0.567	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1		NM_152358		10	48	0	0	0	0.010729	0	10	48		
SHANK1	50944	broad.mit.edu	37	19	51165497	51165497	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:51165497C>T	ENST00000293441.1	-	23	6229	c.6211G>A	c.(6211-6213)Ggg>Agg	p.G2071R	SHANK1_ENST00000359082.3_Missense_Mutation_p.G2062R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2079R|SHANK1_ENST00000483981.2_5'Flank|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1458R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2071					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCGAGGCCCCTGACAAGGCT	0.692																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(6211-6213)GGG>AGG		SH3 and multiple ankyrin repeat domains 1							24.0	27.0	26.0					19																	51165497		2203	4299	6502	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165497C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6211G>A	19.37:g.51165497C>T	ENSP00000293441:p.Gly2071Arg					SHANK1_uc002psw.1_Missense_Mutation_p.G1455R	p.G2071R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6230	-		all_neural(266;0.057)	2071					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6211G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	9.616	1.132631	0.21041	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.43294	1.08;1.56;1.06;0.95	3.55	1.32	0.21799	.	0.834253	0.10270	U	0.694833	T	0.49779	0.1577	L	0.43152	1.355	0.33497	D	0.589391	D;D	0.65815	0.983;0.995	P;D	0.66497	0.799;0.944	T	0.55360	-0.8153	10	0.41790	T	0.15	.	6.7312	0.23385	0.1767:0.7234:0.0:0.1	.	2071;1458	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	2071;1458;2062;2079	ENSP00000293441:G2071R;ENSP00000375689:G1458R;ENSP00000351984:G2062R;ENSP00000375690:G2079R	ENSP00000293441:G2071R	G	-	1	0	SHANK1	55857309	0.954000	0.32549	0.658000	0.29665	0.783000	0.44284	2.170000	0.42443	0.309000	0.22966	0.450000	0.29827	GGG		0.692	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		3	28	0	0	0	0.004672	0	3	28		
BRSK1	84446	broad.mit.edu	37	19	55816954	55816954	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:55816954G>C	ENST00000309383.1	+	16	2167	c.1890G>C	c.(1888-1890)tcG>tcC	p.S630S	BRSK1_ENST00000326848.7_Splice_Site_p.S325S|BRSK1_ENST00000590333.1_Splice_Site_p.S646S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.S630S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTTTCTGTCGGTGAGGGGCC	0.557																																						uc002qkg.2		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1888-1890)TCG>TCC		BR serine/threonine kinase 1							144.0	150.0	148.0					19																	55816954		2203	4300	6503	SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55816954G>C	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1890+1G>C	19.37:g.55816954G>C						BRSK1_uc002qkf.2_Silent_p.S646S|BRSK1_uc002qkh.2_Silent_p.S325S	p.S630S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	16	2167	+		Renal(1328;0.245)	630					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.1890G>C	CCDS12921.1																																																																																				0.557	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1		NM_032430	Silent	55	162	0	0	0	0.01441	0	55	162		
ROCK2	9475	broad.mit.edu	37	2	11367412	11367412	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:11367412G>A	ENST00000315872.6	-	6	1284	c.836C>T	c.(835-837)tCt>tTt	p.S279F	ROCK2_ENST00000401753.1_Missense_Mutation_p.S36F	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACACCTACAGACCACCAATC	0.363																																						uc002rbd.1		NaN																	0				stomach(2)|skin(2)	4						c.(835-837)TCT>TTT		Rho-associated, coiled-coil containing protein							237.0	232.0	233.0					2																	11367412		1880	4125	6005	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11367412G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.836C>T	2.37:g.11367412G>A	ENSP00000317985:p.Ser279Phe						p.S279F	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1285	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		279			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.836C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701111	0.88924	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.52983	0.64;0.64;0.64	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81866	0.4913	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89418	0.3708	10	0.87932	D	0	.	18.7544	0.91826	0.0:0.0:1.0:0.0	.	279	O75116	ROCK2_HUMAN	F	279;36;106	ENSP00000317985:S279F;ENSP00000385509:S36F;ENSP00000395957:S106F	ENSP00000261535:S279F	S	-	2	0	ROCK2	11284863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.501000	0.84356	0.585000	0.79938	TCT		0.363	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				53	113	0	0	0	0.01441	0	53	113		
ADD2	119	broad.mit.edu	37	2	70903954	70903954	+	Missense_Mutation	SNP	C	C	T	rs572200577		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:70903954C>T	ENST00000264436.4	-	13	2011	c.1567G>A	c.(1567-1569)Gtc>Atc	p.V523I	ADD2_ENST00000355733.3_Missense_Mutation_p.V523I|ADD2_ENST00000430656.1_Missense_Mutation_p.V539I|ADD2_ENST00000407644.2_Missense_Mutation_p.V523I|ADD2_ENST00000413157.2_Missense_Mutation_p.V523I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	523					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGGCAATGACGCTCGCCAGG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16898	0.0		0.001	False		,,,				2504	0.0					uc002sgz.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1567-1569)GTC>ATC		adducin 2 isoform a							67.0	69.0	68.0					2																	70903954		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903954C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1567G>A	2.37:g.70903954C>T	ENSP00000264436:p.Val523Ile					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V523I|ADD2_uc002sha.2_Missense_Mutation_p.V217I|ADD2_uc002sgx.2_Missense_Mutation_p.V523I|ADD2_uc010fdt.1_Missense_Mutation_p.V523I|ADD2_uc002shc.1_Missense_Mutation_p.V523I|ADD2_uc002shd.1_Missense_Mutation_p.V217I|ADD2_uc010fdu.1_Missense_Mutation_p.V539I	p.V523I	NM_001617	NP_001608	P35612	ADDB_HUMAN			13	2032	-			523					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1567G>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805755	0.31961	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.12182	0.205	0.44012	D	0.996722	B;P;B;B;P;D	0.76494	0.28;0.494;0.419;0.28;0.769;0.999	B;B;B;B;B;D	0.78314	0.042;0.131;0.083;0.091;0.074;0.991	T	0.01776	-1.1276	10	0.02654	T	1	-27.8553	16.036	0.80628	0.0:1.0:0.0:0.0	.	539;523;217;523;523;523	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	I	523;523;523;217;523;217;523;539	ENSP00000264436:V523I;ENSP00000384677:V523I;ENSP00000347972:V523I;ENSP00000430243:V217I;ENSP00000388072:V523I;ENSP00000398112:V539I	ENSP00000264436:V523I	V	-	1	0	ADD2	70757462	0.652000	0.27349	0.997000	0.53966	0.763000	0.43281	1.297000	0.33400	2.646000	0.89796	0.655000	0.94253	GTC		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4		NM_001617		12	53	0	0	0	0.013537	0	12	53		
RGPD4	285190	broad.mit.edu	37	2	108488251	108488251	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:108488251G>A	ENST00000408999.3	+	20	3868	c.3791G>A	c.(3790-3792)aGt>aAt	p.S1264N	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1264N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1264					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATAGTGTCAGTAGTAGCTCA	0.403																																						uc010ywk.1		NaN																	0				skin(2)	2						c.(3790-3792)AGT>AAT		RANBP2-like and GRIP domain containing 4							105.0	91.0	95.0					2																	108488251		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488251G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3791G>A	2.37:g.108488251G>A	ENSP00000386810:p.Ser1264Asn					RGPD4_uc002tdu.2_Missense_Mutation_p.S451N|RGPD4_uc010ywl.1_Intron	p.S1264N	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3873	+			1264					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3791G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.703	-0.790169	0.02884	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.41400	1.0;1.0	2.33	2.33	0.28932	.	.	.	.	.	T	0.30634	0.0771	L	0.29908	0.895	0.21627	N	0.999616	D	0.60575	0.988	P	0.46718	0.525	T	0.07121	-1.0789	9	0.19147	T	0.46	-19.4911	6.293	0.21071	0.1531:0.0:0.8469:0.0	.	1264	Q7Z3J3	RGPD4_HUMAN	N	1264	ENSP00000347081:S1264N;ENSP00000386810:S1264N	ENSP00000347081:S1264N	S	+	2	0	RGPD4	107854683	0.985000	0.35326	0.865000	0.33974	0.096000	0.18686	2.823000	0.48081	1.303000	0.44873	0.162000	0.16502	AGT		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2		XM_496581		122	253	0	0	0	0.01441	0	122	253		
INHBB	3625	broad.mit.edu	37	2	121107201	121107201	+	Silent	SNP	C	C	T	rs368438939	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:121107201C>T	ENST00000295228.3	+	2	1021	c.975C>T	c.(973-975)acC>acT	p.T325T		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	325					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TAGCACCCACCGGCTACTACG	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		16901	0.0		0.0	False		,,,				2504	0.002					uc002tmn.2		NaN																	0				pancreas(2)|skin(1)	3						c.(973-975)ACC>ACT		inhibin beta B subunit preproprotein		C		1,4405	2.1+/-5.4	0,1,2202	73.0	71.0	72.0		975	-7.3	0.5	2		72	0,8600		0,0,4300	no	coding-synonymous	INHBB	NM_002193.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		325/408	121107201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107201C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.975C>T	2.37:g.121107201C>T							p.T325T	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	1021	+		Prostate(154;0.122)	325					Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	c.975C>T	CCDS2132.1																																																																																				0.617	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1				26	74	0	0	0	0.024334	0	26	74		
XIRP2	129446	broad.mit.edu	37	2	168107280	168107280	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:168107280A>G	ENST00000409195.1	+	9	9467	c.9378A>G	c.(9376-9378)atA>atG	p.I3126M	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2904M|XIRP2_ENST00000295237.9_Missense_Mutation_p.I3126M|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2951					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTATCACAATAGAATCTACTG	0.443																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9376-9378)ATA>ATG		xin actin-binding repeat containing 2 isoform 1							83.0	79.0	80.0					2																	168107280		1854	4093	5947	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107280A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9378A>G	2.37:g.168107280A>G	ENSP00000386840:p.Ile3126Met					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2951M|XIRP2_uc010fpq.2_Missense_Mutation_p.I2904M|XIRP2_uc010fpr.2_Intron	p.I3126M	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9396	+			2951					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9378A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523545	0.27299	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.10573	2.9;2.9;2.86	5.88	0.905	0.19307	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	M	0.72894	2.215	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.936;0.971;0.971	T	0.01993	-1.1233	10	0.56958	D	0.05	-16.6648	3.3109	0.07016	0.3156:0.1875:0.0:0.4969	.	2951;2951;2904	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	3126;3126;2904;540	ENSP00000386840:I3126M;ENSP00000295237:I3126M;ENSP00000387255:I2904M	ENSP00000295237:I3126M	I	+	3	3	XIRP2	167815526	0.983000	0.35010	0.964000	0.40570	0.153000	0.21895	0.084000	0.14891	0.134000	0.18681	-0.646000	0.03943	ATA		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		18	86	0	0	0	0.00499	0	18	86		
LRP2	4036	broad.mit.edu	37	2	170011072	170011072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:170011072G>A	ENST00000263816.3	-	66	12478	c.12193C>T	c.(12193-12195)Cga>Tga	p.R4065*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4065					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTATATTTTCGAATTCGGACA	0.378																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12193-12195)CGA>TGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						80.0	79.0	80.0					2																	170011072		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170011072G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12193C>T	2.37:g.170011072G>A	ENSP00000263816:p.Arg4065*						p.R4065*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	66	12406	-			4065			Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.12193C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	55	23.757362	0.99957	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.7	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5308	0.61621	0.0:0.0:0.7164:0.2836	.	.	.	.	X	4065	.	ENSP00000263816:R4065X	R	-	1	2	LRP2	169719318	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.430000	0.59907	1.323000	0.45263	0.655000	0.94253	CGA		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		29	58	0	0	0	0.027356	0	29	58		
TTN	7273	broad.mit.edu	37	2	179532370	179532370	+	Intron	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:179532370G>A	ENST00000591111.1	-	153	34489				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A11875V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACCTTTTGCTAGTTTGGG	0.294																																						uc010zfk.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(145-147)GCA>GTA		SubName: Full=Titin; Flags: Fragment;							163.0	174.0	170.0					2																	179532370		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179532370G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+2574C>T	2.37:g.179532370G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.A49V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	694	-			11243					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.146C>T		.	.	.	.	.	.	.	.	.	.	G	13.59	2.281506	0.40394	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	5.76	-1.13	0.09775	.	.	.	.	.	T	0.13841	0.0335	.	.	.	0.09310	N	1	B	0.24768	0.111	B	0.23275	0.045	T	0.27226	-1.0080	7	0.12430	T	0.62	.	0.9228	0.01318	0.3264:0.1119:0.3335:0.2282	.	177	Q71S18	.	V	177;29	.	ENSP00000376219:A29V	A	-	2	0	TTN	179240615	0.010000	0.17322	0.429000	0.26710	0.980000	0.70556	0.068000	0.14531	0.071000	0.16664	0.655000	0.94253	GCA		0.294	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	104	0	0	0	0.010504	0	18	104		
TTN	7273	broad.mit.edu	37	2	179640412	179640412	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:179640412G>A	ENST00000591111.1	-	28	6403	c.6179C>T	c.(6178-6180)aCg>aTg	p.T2060M	TTN_ENST00000460472.2_Missense_Mutation_p.T2014M|TTN_ENST00000342175.6_Missense_Mutation_p.T2014M|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T2060M|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T2060M|TTN_ENST00000359218.5_Missense_Mutation_p.T2014M|TTN_ENST00000360870.5_Missense_Mutation_p.T2060M|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12845					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGAATCGTGATTTTGCC	0.423																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6178-6180)ACG>ATG		titin isoform N2-A							150.0	152.0	151.0					2																	179640412		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640412G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6179C>T	2.37:g.179640412G>A	ENSP00000465570:p.Thr2060Met					TTN_uc010zfh.1_Missense_Mutation_p.T2014M|TTN_uc010zfi.1_Missense_Mutation_p.T2014M|TTN_uc010zfj.1_Missense_Mutation_p.T2014M|TTN_uc002unb.2_Missense_Mutation_p.T2060M|uc002unc.1_5'Flank	p.T2060M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6403	-			2060					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6179C>T		.	.	.	.	.	.	.	.	.	.	G	10.23	1.292631	0.23564	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64991	-0.13;0.12;0.1;0.09;0.25	5.33	4.45	0.53987	Ribonuclease H-like (1);	.	.	.	.	T	0.69441	0.3111	L	0.29908	0.895	0.33804	D	0.627001	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.72338	0.92;0.92;0.92;0.92;0.977	T	0.79198	-0.1902	9	0.87932	D	0	.	15.3177	0.74095	0.0:0.0:0.8589:0.141	.	2014;2014;2014;2060;2060	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	2060;2014;2014;2014;2014;2060	ENSP00000343764:T2060M;ENSP00000434586:T2014M;ENSP00000340554:T2014M;ENSP00000352154:T2014M;ENSP00000354117:T2060M	ENSP00000340554:T2014M	T	-	2	0	TTN	179348657	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.658000	0.74407	1.222000	0.43521	0.655000	0.94253	ACG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	110	0	0	0	0.028581	0	17	110		
DNER	92737	broad.mit.edu	37	2	230450646	230450646	+	Missense_Mutation	SNP	T	T	A	rs72987941	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:230450646T>A	ENST00000341772.4	-	4	909	c.775A>T	c.(775-777)Acc>Tcc	p.T259S	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	259					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.T259P(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAAGGGGGGTCACACTTCGT	0.517													T|||	42	0.00838658	0.0008	0.0144	5008	,	,		16363	0.0		0.0278	False		,,,				2504	0.0031					uc002vpv.2		NaN																	1	Substitution - Missense(1)	p.T259P(1)	lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(775-777)ACC>TCC		delta-notch-like EGF repeat-containing		T	SER/THR	27,4379	34.3+/-65.2	0,27,2176	100.0	97.0	98.0		775	5.7	1.0	2	dbSNP_130	98	190,8410	84.0+/-146.5	4,182,4114	yes	missense	DNER	NM_139072.3	58	4,209,6290	AA,AT,TT		2.2093,0.6128,1.6685	benign	259/738	230450646	217,12789	2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230450646T>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.775A>T	2.37:g.230450646T>A	ENSP00000345229:p.Thr259Ser					DNER_uc010zly.1_5'UTR	p.T259S	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	4	922	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	259			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.775A>T	CCDS33390.1	23	0.010531135531135532	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	19	0.025065963060686015	T	16.46	3.129833	0.56721	0.006128	0.022093	ENSG00000187957	ENST00000341772	D	0.85171	-1.95	5.67	5.67	0.87782	.	0.372411	0.31102	N	0.008255	T	0.55210	0.1906	L	0.27053	0.805	0.38817	D	0.955556	B	0.27853	0.191	B	0.24848	0.056	T	0.68119	-0.5493	10	0.14656	T	0.56	.	15.905	0.79419	0.0:0.0:0.0:1.0	.	259	Q8NFT8	DNER_HUMAN	S	259	ENSP00000345229:T259S	ENSP00000345229:T259S	T	-	1	0	DNER	230158890	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.289000	0.59013	2.150000	0.67090	0.533000	0.62120	ACC		0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072		4	59	0	0	0	0.009096	0	4	59		
UGT1A10	54575	broad.mit.edu	37	2	234545237	234545237	+	Silent	SNP	C	C	T	rs538561016		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:234545237C>T	ENST00000344644.5	+	1	138	c.69C>T	c.(67-69)gcC>gcT	p.A23A	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.A23A	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GTGGCTTTGCCGAGGCAGGGA	0.597													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18450	0.0		0.0	False		,,,				2504	0.0					uc002vur.2		NaN																	0				ovary(2)|skin(1)	3						c.(67-69)GCC>GCT		UDP glycosyltransferase 1 family, polypeptide							102.0	94.0	97.0					2																	234545237		2203	4300	6503	SO:0001819	synonymous_variant	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545237C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.69C>T	2.37:g.234545237C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.A23A	p.A23A	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	115	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	23	MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1).				O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.69C>T	CCDS33403.1																																																																																				0.597	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1		NM_019075		26	89	0	0	0	0.021523	0	26	89		
MYH7B	57644	broad.mit.edu	37	20	33572681	33572681	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr20:33572681G>C	ENST00000262873.7	+	10	891	c.799G>C	c.(799-801)Gag>Cag	p.E267Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	225	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAAATCATCGAGGCCAACCC	0.647																																						uc002xbi.1		NaN																	0				ovary(1)|breast(1)	2						c.(799-801)GAG>CAG		myosin, heavy polypeptide 7B, cardiac muscle,							57.0	66.0	63.0					20																	33572681		2186	4296	6482	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572681G>C	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.799G>C	20.37:g.33572681G>C	ENSP00000262873:p.Glu267Gln						p.E267Q	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		10	891	+			225			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.799G>C	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260258	0.23051	.	.	ENSG00000078814	ENST00000262873	D	0.86865	-2.18	4.74	4.74	0.60224	Myosin head, motor domain (2);	0.000000	0.36338	N	0.002645	T	0.68220	0.2977	N	0.01576	-0.805	0.52501	D	0.999959	B	0.25235	0.121	B	0.26310	0.068	T	0.69247	-0.5195	10	0.02654	T	1	.	18.2691	0.90062	0.0:0.0:1.0:0.0	.	225	A7E2Y1	MYH7B_HUMAN	Q	267	ENSP00000262873:E267Q	ENSP00000262873:E267Q	E	+	1	0	MYH7B	33036342	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.320000	0.65841	2.601000	0.87937	0.655000	0.94253	GAG		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		15	50	0	0	0	0.028581	0	15	50		
COL6A2	1292	broad.mit.edu	37	21	47531966	47531966	+	Silent	SNP	G	G	C	rs143583433		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr21:47531966G>C	ENST00000300527.4	+	3	293	c.189G>C	c.(187-189)acG>acC	p.T63T	COL6A2_ENST00000357838.4_Silent_p.T63T|COL6A2_ENST00000397763.1_Silent_p.T63T|COL6A2_ENST00000409416.1_Silent_p.T63T|COL6A2_ENST00000310645.5_Silent_p.T63T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	63	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCCCCCACGGACATCCTGC	0.612																																						uc002zia.1		NaN																	0				central_nervous_system(7)|ovary(1)	8						c.(187-189)ACG>ACC		alpha 2 type VI collagen isoform 2C2 precursor							108.0	75.0	86.0					21																	47531966		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531966G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.189G>C	21.37:g.47531966G>C						COL6A2_uc002zhy.1_Silent_p.T63T|COL6A2_uc002zhz.1_Silent_p.T63T|COL6A2_uc002zib.1_Intron	p.T63T	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	271	+	Breast(49;0.245)		63			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.189G>C	CCDS13728.1																																																																																				0.612	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1				25	55	0	0	0	0.01892	0	25	55		
BCL2L13	23786	broad.mit.edu	37	22	18210180	18210180	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:18210180C>T	ENST00000317582.5	+	7	1685	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	BCL2L13_ENST00000337612.5_Silent_p.A284A|BCL2L13_ENST00000543133.1_Silent_p.A284A|BCL2L13_ENST00000538149.1_Silent_p.A322A|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000418951.2_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	446					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TGTCCCCCGCCGGTGAGATGA	0.612																																						uc002zmw.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1336-1338)GCC>GCT		BCL2-like 13 (apoptosis facilitator)							66.0	71.0	69.0					22																	18210180		2203	4300	6503	SO:0001819	synonymous_variant	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18210180C>T	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.1338C>T	22.37:g.18210180C>T						BCL2L13_uc002zmx.2_Silent_p.A284A|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.A284A|BCL2L13_uc011agk.1_Silent_p.A322A|BCL2L13_uc010gqz.2_Silent_p.A166A|BCL2L13_uc002zmz.2_Silent_p.A284A|BCL2L13_uc002zna.2_Silent_p.A166A	p.A446A	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	7	1556	+		all_epithelial(15;0.123)	446			B; approximate.		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	37	c.1338C>T	CCDS13746.1																																																																																				0.612	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1		NM_015367		23	79	0	0	0	0.012319	0	23	79		
EFCAB6	64800	broad.mit.edu	37	22	43930620	43930620	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:43930620G>C	ENST00000262726.7	-	30	4434	c.4181C>G	c.(4180-4182)gCa>gGa	p.A1394G	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A1242G|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1394	EF-hand 15. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTTCCTTTGCTTTTAGCAG	0.473																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(4180-4182)GCA>GGA		CAP-binding protein complex interacting protein							119.0	99.0	106.0					22																	43930620		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930620G>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4181C>G	22.37:g.43930620G>C	ENSP00000262726:p.Ala1394Gly					EFCAB6_uc003bdz.1_Missense_Mutation_p.A1242G|EFCAB6_uc010gzi.1_Missense_Mutation_p.A1242G	p.A1394G	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			30	4396	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1394			EF-hand 15.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4181C>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890413	0.33348	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15256	2.45;2.44	5.31	5.31	0.75309	EF-hand-like domain (1);	0.220435	0.37348	N	0.002136	T	0.17066	0.0410	L	0.27053	0.805	0.30139	N	0.804071	D	0.57257	0.979	P	0.49999	0.628	T	0.03433	-1.1037	10	0.20519	T	0.43	-14.3167	12.729	0.57187	0.0:0.0:0.8361:0.1639	.	1394	Q5THR3	EFCB6_HUMAN	G	1242;1394	ENSP00000379533:A1242G;ENSP00000262726:A1394G	ENSP00000262726:A1394G	A	-	2	0	EFCAB6	42261953	0.289000	0.24334	0.061000	0.19648	0.059000	0.15707	3.894000	0.56250	2.480000	0.83734	0.655000	0.94253	GCA		0.473	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		4	53	0	0	0	0.009096	0	4	53		
CELSR1	9620	broad.mit.edu	37	22	46859620	46859620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:46859620G>T	ENST00000262738.3	-	2	4166	c.4167C>A	c.(4165-4167)tgC>tgA	p.C1389*	CELSR1_ENST00000395964.1_Nonsense_Mutation_p.C1389*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1389	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTCCTCGAAGCACTCGCAGG	0.647																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4165-4167)TGC>TGA		cadherin EGF LAG seven-pass G-type receptor 1							16.0	12.0	14.0					22																	46859620		2174	4256	6430	SO:0001587	stop_gained	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859620G>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4167C>A	22.37:g.46859620G>T	ENSP00000262738:p.Cys1389*						p.C1389*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4167	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1389			Extracellular (Potential).|EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.4167C>A	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.182280|9.182280	0.99092|0.99092	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|.	.|.	.|.	4.22|4.22	2.07|2.07	0.26955|0.26955	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.26738|.	0.0654|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16719|.	-1.0393|.	4|.	.|0.02654	.|T	.|1	.|.	7.5618|7.5618	0.27855|0.27855	0.3059:0.0:0.6941:0.0|0.3059:0.0:0.6941:0.0	.|.	.|.	.|.	.|.	D|X	764|1389	.|.	.|ENSP00000262738:C1389X	A|C	-|-	2|3	0|2	CELSR1|CELSR1	45238284|45238284	0.524000|0.524000	0.26282|0.26282	0.678000|0.678000	0.29963|0.29963	0.891000|0.891000	0.51852|0.51852	0.617000|0.617000	0.24359|0.24359	0.336000|0.336000	0.23639|0.23639	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		5	10	1	0	0.000602214	0.014758	0.000616006	5	10		
CELSR1	9620	broad.mit.edu	37	22	46859881	46859881	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:46859881G>A	ENST00000262738.3	-	2	3905	c.3906C>T	c.(3904-3906)ttC>ttT	p.F1302F	CELSR1_ENST00000395964.1_Silent_p.F1302F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1302					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGTCGTCGAAGGGCAGCA	0.637																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(3904-3906)TTC>TTT		cadherin EGF LAG seven-pass G-type receptor 1							95.0	72.0	80.0					22																	46859881		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859881G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3906C>T	22.37:g.46859881G>A							p.F1302F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3906	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1302			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.3906C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082486	0.20309	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.99	3.98	0.46160	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54892	-0.8225	4	.	.	.	.	8.1804	0.31307	0.2447:0.0:0.7553:0.0	.	.	.	.	L	677	.	.	S	-	2	0	CELSR1	45238545	0.990000	0.36364	1.000000	0.80357	0.989000	0.77384	0.238000	0.18004	1.120000	0.41904	-0.119000	0.15052	TCG		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		10	36	0	0	0	0.006214	0	10	36		
RTP3	83597	broad.mit.edu	37	3	46542025	46542025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:46542025C>G	ENST00000296142.3	+	2	907	c.335C>G	c.(334-336)tCa>tGa	p.S112*		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	112					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GAGAACATCTCAAGGATCCTG	0.458																																						uc003cps.1		NaN																	0				ovary(2)	2						c.(334-336)TCA>TGA		transmembrane protein 7							99.0	100.0	100.0					3																	46542025		2203	4300	6503	SO:0001587	stop_gained	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542025C>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.335C>G	3.37:g.46542025C>G	ENSP00000296142:p.Ser112*						p.S112*	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	403	+			112			Cytoplasmic (Potential).		A2RRP6	Nonsense_Mutation	SNP	ENST00000296142.3	37	c.335C>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257941	0.80246	.	.	ENSG00000163825	ENST00000296142	.	.	.	3.45	1.35	0.21983	.	0.620684	0.15677	N	0.250090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.6371	6.1934	0.20536	0.1984:0.4135:0.3881:0.0	.	.	.	.	X	112	.	ENSP00000296142:S112X	S	+	2	0	RTP3	46517029	0.010000	0.17322	0.915000	0.36163	0.124000	0.20399	0.860000	0.27871	0.756000	0.33013	0.462000	0.41574	TCA		0.458	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2		NM_031440		39	87	0	0	0	0.021022	0	39	87		
DOCK3	1795	broad.mit.edu	37	3	51266209	51266209	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:51266209A>T	ENST00000266037.9	+	18	1788	c.1765A>T	c.(1765-1767)Aaa>Taa	p.K589*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	589	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGCAGCACCAAAGAGTCTTT	0.517																																						uc011bds.1		NaN																	0					0						c.(1765-1767)AAA>TAA		dedicator of cytokinesis 3							122.0	120.0	121.0					3																	51266209		1980	4173	6153	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51266209A>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1765A>T	3.37:g.51266209A>T	ENSP00000266037:p.Lys589*						p.K589*	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	18	1788	+			589			DHR-1.		O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.1765A>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	38	6.913829	0.97932	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.45	5.45	0.79879	.	0.043915	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5099	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	X	589	.	ENSP00000266037:K589X	K	+	1	0	DOCK3	51241249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.324000	0.96373	2.060000	0.61445	0.533000	0.62120	AAA		0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		14	43	0	0	0	0.020292	0	14	43		
PARP14	54625	broad.mit.edu	37	3	122419588	122419588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:122419588C>G	ENST00000474629.2	+	6	2453	c.2187C>G	c.(2185-2187)gaC>gaG	p.D729E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGCAGTGGACATTGTCAAGC	0.408																																						uc003efq.3		NaN																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(2185-2187)GAC>GAG		poly (ADP-ribose) polymerase family, member 14							49.0	47.0	48.0					3																	122419588		1958	4145	6103	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122419588C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2187C>G	3.37:g.122419588C>G	ENSP00000418194:p.Asp729Glu					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D446E|PARP14_uc003efs.1_Missense_Mutation_p.D446E	p.D729E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2246	+			729					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2187C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	1.682	-0.506276	0.04231	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.08634	3.07	5.52	-2.61	0.06171	.	1.602010	0.03383	N	0.200616	T	0.04048	0.0113	N	0.22421	0.69	0.09310	N	1	B;B	0.28933	0.228;0.008	B;B	0.24394	0.053;0.004	T	0.25502	-1.0130	10	0.02654	T	1	.	2.391	0.04378	0.1038:0.3315:0.306:0.2588	.	729;729	Q460N5-4;Q460N5	.;PAR14_HUMAN	E	729;648	ENSP00000418194:D729E	ENSP00000381228:D648E	D	+	3	2	PARP14	123902278	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.231000	0.09069	-0.553000	0.06158	0.655000	0.94253	GAC		0.408	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		3	22	0	0	0	0.004672	0	3	22		
MCM2	4171	broad.mit.edu	37	3	127325534	127325534	+	Silent	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:127325534C>G	ENST00000265056.7	+	6	1219	c.975C>G	c.(973-975)gtC>gtG	p.V325V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	325					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCAGCATGGTCAAGTACAACT	0.612																																						uc003ejp.2		NaN																	0				ovary(3)|skin(1)	4						c.(973-975)GTC>GTG		minichromosome maintenance complex component 2							103.0	98.0	99.0					3																	127325534		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127325534C>G	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.975C>G	3.37:g.127325534C>G						MCM2_uc011bkm.1_Silent_p.V195V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.V209V	p.V325V	NM_004526	NP_004517	P49736	MCM2_HUMAN			6	1032	+			325					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.975C>G	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225598	0.22542	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-56.8592	13.9954	0.64392	0.0:0.8485:0.1515:0.0	.	.	.	.	X	188	.	.	S	+	2	0	MCM2	128808224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.876000	0.63079	2.306000	0.77630	0.591000	0.81541	TCA		0.612	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1				26	79	0	0	0	0.01892	0	26	79		
CLSTN2	64084	broad.mit.edu	37	3	140140011	140140011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:140140011C>T	ENST00000458420.3	+	5	872	c.682C>T	c.(682-684)Cag>Tag	p.Q228*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAACAACACCAGTATGAGAT	0.502										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NaN																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(682-684)CAG>TAG		calsyntenin 2 precursor							159.0	147.0	151.0					3																	140140011		2203	4300	6503	SO:0001587	stop_gained	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140140011C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.682C>T	3.37:g.140140011C>T	ENSP00000402460:p.Gln228*	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Nonsense_Mutation_p.Q228*	p.Q228*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			5	872	+			228			Extracellular (Potential).|Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.682C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	38	6.981138	0.97979	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.7	5.7	0.88788	.	0.298642	0.33772	N	0.004562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-22.6471	17.3368	0.87283	0.0:1.0:0.0:0.0	.	.	.	.	X	228	.	ENSP00000402460:Q228X	Q	+	1	0	CLSTN2	141622701	0.957000	0.32711	0.987000	0.45799	0.963000	0.63663	2.812000	0.47994	2.679000	0.91253	0.655000	0.94253	CAG		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3		NM_022131		34	97	0	0	0	0.012213	0	34	97		
CLSTN2	64084	broad.mit.edu	37	3	140282913	140282913	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:140282913G>A	ENST00000458420.3	+	16	2783	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	865					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTCATCCAGGAGACTGAGGC	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NaN																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2593-2595)GAG>AAG		calsyntenin 2 precursor							182.0	160.0	167.0					3																	140282913		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282913G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2593G>A	3.37:g.140282913G>A	ENSP00000402460:p.Glu865Lys	HNSCC(16;0.037)					p.E865K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			16	2783	+			865			Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2593G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388384	0.42308	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.75	5.75	0.90469	.	0.361115	0.32671	N	0.005797	T	0.32793	0.0841	M	0.64997	1.995	0.49687	D	0.999812	B	0.30763	0.294	B	0.24974	0.057	T	0.04855	-1.0922	9	.	.	.	-33.5473	17.4314	0.87540	0.0:0.0:1.0:0.0	.	865	Q9H4D0	CSTN2_HUMAN	K	865	ENSP00000402460:E865K	.	E	+	1	0	CLSTN2	141765603	1.000000	0.71417	0.752000	0.31206	0.259000	0.26198	7.985000	0.88162	2.711000	0.92665	0.655000	0.94253	GAG		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3		NM_022131		27	125	0	0	0	0.027356	0	27	125		
FAM131A	131408	broad.mit.edu	37	3	184062488	184062488	+	Silent	SNP	C	C	T	rs150189351	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:184062488C>T	ENST00000310585.4	+	3	2102	c.738C>T	c.(736-738)ggC>ggT	p.G246G	FAM131A_ENST00000340957.5_Silent_p.G192G|FAM131A_ENST00000418281.1_Silent_p.G154G|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Silent_p.G192G|FAM131A_ENST00000450976.1_Silent_p.G192G|FAM131A_ENST00000383847.2_Silent_p.G277G			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	246						extracellular region (GO:0005576)		p.G246G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTGCTGGGCGATGAGCTGC	0.667													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15733	0.0		0.0	False		,,,				2504	0.0					uc003fog.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	breast(1)	1						c.(736-738)GGC>GGT		hypothetical protein LOC131408 precursor		C	,	3,4403	6.2+/-15.9	0,3,2200	57.0	66.0	63.0		576,831	-7.7	0.0	3	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FAM131A	NM_001171093.1,NM_144635.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	192/282,277/367	184062488	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	131408					extracellular region		g.chr3:184062488C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.738C>T	3.37:g.184062488C>T						FAM131A_uc003fob.1_Silent_p.G154G|FAM131A_uc003foc.2_Silent_p.G192G|FAM131A_uc003foe.2_Silent_p.G192G	p.G246G	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	2102	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		246					D3DNT6|G5E9B1|Q8TA84	Silent	SNP	ENST00000310585.4	37	c.738C>T																																																																																					0.667	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1		NM_144635		9	100	0	0	0	0.006214	0	9	100		
ATP13A4	84239	broad.mit.edu	37	3	193130158	193130158	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:193130158G>A	ENST00000342695.4	-	27	3339	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.A987V|ATP13A4_ENST00000400270.2_Missense_Mutation_p.A22V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1006						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACTGTGCAGGCACTAAAAGG	0.398																																						uc003ftd.2		NaN																	0				ovary(2)	2						c.(3016-3018)GCC>GTC		ATPase type 13A4							152.0	154.0	153.0					3																	193130158		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193130158G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3017C>T	3.37:g.193130158G>A	ENSP00000339182:p.Ala1006Val					ATP13A4_uc010hzi.2_RNA	p.A1006V	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	27	3125	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1006			Cytoplasmic (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3017C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528385	0.27299	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.88354	0.42;-2.37;-2.37	5.93	1.49	0.22878	.	0.118145	0.37809	N	0.001937	T	0.71134	0.3304	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.51639	-0.8680	10	0.17832	T	0.49	-0.5089	3.8429	0.08922	0.211:0.0:0.4824:0.3066	.	1006	Q4VNC1	AT134_HUMAN	V	22;987;1006	ENSP00000383129:A22V;ENSP00000376238:A987V;ENSP00000339182:A1006V	ENSP00000339182:A1006V	A	-	2	0	ATP13A4	194612852	0.999000	0.42202	0.958000	0.39756	0.583000	0.36354	0.234000	0.17930	-0.016000	0.14127	0.655000	0.94253	GCC		0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279		39	124	0	0	0	0.023175	0	39	124		
UBA6	55236	broad.mit.edu	37	4	68514897	68514897	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:68514897G>A	ENST00000322244.5	-	14	1196	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	379					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAGTCCAAGAGAGCCAATGCA	0.393																																						uc003hdg.3		NaN																	0					0						c.(1135-1137)CTC>CTT		ubiquitin-activating enzyme E1-like 2							96.0	98.0	97.0					4																	68514897		2203	4300	6503	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68514897G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1137C>T	4.37:g.68514897G>A						UBA6_uc003hdh.1_5'UTR	p.L379L	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			14	1189	-			379					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.1137C>T	CCDS3516.1																																																																																				0.393	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2		NM_018227		13	65	0	0	0	0.020292	0	13	65		
HSD17B13	345275	broad.mit.edu	37	4	88226451	88226451	+	Silent	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:88226451A>T	ENST00000328546.4	-	7	886	c.822T>A	c.(820-822)ccT>ccA	p.P274P	HSD17B13_ENST00000302219.6_Silent_p.P238P	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	274						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AGGCGCGTTCAGGAAGAAACC	0.333																																						uc003hqo.2		NaN																	0					0						c.(820-822)CCT>CCA		hydroxysteroid (17-beta) dehydrogenase 13							54.0	49.0	51.0					4																	88226451		2202	4300	6502	SO:0001819	synonymous_variant	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88226451A>T		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.822T>A	4.37:g.88226451A>T						HSD17B13_uc010ikk.2_Silent_p.P238P	p.P274P	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	7	885	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	274					A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	ENST00000328546.4	37	c.822T>A	CCDS3618.1																																																																																				0.333	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1		NM_178135		8	24	0	0	0	0.00308	0	8	24		
FAT4	79633	broad.mit.edu	37	4	126238269	126238269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:126238269C>T	ENST00000394329.3	+	1	716	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCTACCTTCAGGTAAACGT	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(703-705)CAG>TAG		FAT tumor suppressor homolog 4 precursor							31.0	36.0	34.0					4																	126238269		2054	4193	6247	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238269C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.703C>T	4.37:g.126238269C>T	ENSP00000377862:p.Gln235*		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.Q235*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	703	+			235			Cadherin 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.703C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839183	0.91117	.	.	ENSG00000196159	ENST00000394329	.	.	.	5.13	5.13	0.70059	.	0.000000	0.33092	U	0.005284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.5573	0.61768	0.1556:0.8444:0.0:0.0	.	.	.	.	X	235	.	ENSP00000377862:Q235X	Q	+	1	0	FAT4	126457719	1.000000	0.71417	0.997000	0.53966	0.399000	0.30720	5.932000	0.70121	2.364000	0.80123	0.655000	0.94253	CAG		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		12	36	0	0	0	0.010729	0	12	36		
FAT4	79633	broad.mit.edu	37	4	126239451	126239451	+	Silent	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:126239451C>A	ENST00000394329.3	+	1	1898	c.1885C>A	c.(1885-1887)Cgg>Agg	p.R629R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAGACTGACCGGAGGTCCTT	0.557																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1885-1887)CGG>AGG		FAT tumor suppressor homolog 4 precursor							75.0	76.0	76.0					4																	126239451		2008	4169	6177	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239451C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1885C>A	4.37:g.126239451C>A							p.R629R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1885	+			629			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1885C>A	CCDS3732.3																																																																																				0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		18	51	1	0	1.67942e-08	0.006122	1.78605e-08	18	51		
ELF2	1998	broad.mit.edu	37	4	139980487	139980487	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:139980487G>C	ENST00000394235.2	-	10	1898	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.L406V|ELF2_ENST00000379549.2_Missense_Mutation_p.L389V|ELF2_ENST00000379550.1_Missense_Mutation_p.L478V|ELF2_ENST00000265495.4_Missense_Mutation_p.L466V|ELF2_ENST00000358635.3_Missense_Mutation_p.L418V	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GATCCAGTCAGATTTGACTTT	0.443																																						uc003ihp.1		NaN																	0				ovary(1)|skin(1)	2						c.(1396-1398)CTG>GTG		E74-like factor 2 (ets domain transcription							84.0	75.0	78.0					4																	139980487		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139980487G>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1396C>G	4.37:g.139980487G>C	ENSP00000377782:p.Leu466Val					ELF2_uc003ihm.1_Missense_Mutation_p.L418V|ELF2_uc003ihn.1_Missense_Mutation_p.L406V|ELF2_uc003iho.1_Missense_Mutation_p.L389V|ELF2_uc011chc.1_Missense_Mutation_p.L281V	p.L466V	NM_201999	NP_973728	Q15723	ELF2_HUMAN			9	1602	-	all_hematologic(180;0.162)		478						Missense_Mutation	SNP	ENST00000394235.2	37	c.1396C>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891686	0.17613	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.13307	2.6;2.8;2.79;2.8;2.78;2.6	5.8	4.96	0.65561	.	0.378733	0.27739	N	0.018057	T	0.12433	0.0302	L	0.29908	0.895	0.32948	D	0.519334	P;P;B;B;P	0.46859	0.801;0.885;0.15;0.141;0.792	B;P;B;B;B	0.45610	0.275;0.487;0.027;0.028;0.337	T	0.14868	-1.0457	9	.	.	.	.	9.2141	0.37337	0.2152:0.0:0.7848:0.0	.	281;466;389;406;418	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	V	418;466;478;466;389;281;406	ENSP00000351458:L418V;ENSP00000377782:L466V;ENSP00000368868:L478V;ENSP00000265495:L466V;ENSP00000368867:L389V;ENSP00000426997:L406V	.	L	-	1	2	ELF2	140199937	0.947000	0.32204	0.888000	0.34837	0.992000	0.81027	1.975000	0.40569	1.471000	0.48121	0.650000	0.86243	CTG		0.443	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2		NM_006874		18	72	0	0	0	0.00499	0	18	72		
DDX60L	91351	broad.mit.edu	37	4	169344916	169344916	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:169344916G>A	ENST00000511577.1	-	15	2187	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	DDX60L_ENST00000260184.7_Missense_Mutation_p.S647L|DDX60L_ENST00000505890.1_Missense_Mutation_p.S647L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	647							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAAATCTTTCGAAATTTTGCC	0.308																																						uc003irq.3		NaN																	0				ovary(1)	1						c.(1939-1941)TCG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							32.0	30.0	31.0					4																	169344916		1804	4062	5866	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169344916G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1940C>T	4.37:g.169344916G>A	ENSP00000422423:p.Ser647Leu					DDX60L_uc003irr.1_Missense_Mutation_p.S647L|DDX60L_uc003irs.1_Missense_Mutation_p.S374L	p.S647L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	15	2161	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	647					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1940C>T		.	.	.	.	.	.	.	.	.	.	G	11.69	1.713024	0.30413	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18657	2.2;2.2;2.2;2.89	2.95	2.95	0.34219	.	0.563131	0.13264	U	0.401077	T	0.11707	0.0285	L	0.40543	1.245	0.09310	N	1	P;P;P	0.46859	0.885;0.885;0.885	B;B;B	0.28139	0.083;0.086;0.083	T	0.16512	-1.0400	10	0.34782	T	0.22	.	7.2054	0.25905	0.1335:0.0:0.8665:0.0	.	647;647;647	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	L	647;647;647;375	ENSP00000260184:S647L;ENSP00000422423:S647L;ENSP00000422202:S647L;ENSP00000421026:S375L	ENSP00000260184:S647L	S	-	2	0	DDX60L	169581491	0.001000	0.12720	0.074000	0.20217	0.611000	0.37282	0.171000	0.16685	1.327000	0.45338	0.313000	0.20887	TCG		0.308	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1		NM_001012967		3	9	0	0	0	0.004672	0	3	9		
EMB	133418	broad.mit.edu	37	5	49699204	49699204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:49699204C>T	ENST00000303221.5	-	6	900	c.685G>A	c.(685-687)Gag>Aag	p.E229K	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.E179K|EMB_ENST00000508934.1_Missense_Mutation_p.E175K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	229	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATCTTCCTCCAAAAGTTGT	0.418																																						uc003jom.2		NaN																	0					0						c.(685-687)GAG>AAG		embigin precursor							124.0	110.0	115.0					5																	49699204		2203	4299	6502	SO:0001583	missense	133418					integral to membrane		g.chr5:49699204C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.685G>A	5.37:g.49699204C>T	ENSP00000302289:p.Glu229Lys					EMB_uc010ivq.2_Missense_Mutation_p.E23K|EMB_uc003jol.2_Missense_Mutation_p.E160K|EMB_uc011cpy.1_Missense_Mutation_p.E179K|EMB_uc010ivr.2_Missense_Mutation_p.E175K	p.E229K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			6	934	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	229			Extracellular (Potential).|Ig-like V-type 2.		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.685G>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415371	0.62511	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.74106	-0.81;2.94;-0.81	4.79	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105614	0.64402	D	0.000007	T	0.70622	0.3245	L	0.52011	1.625	0.40016	D	0.975351	P;P	0.45240	0.817;0.854	B;B	0.42245	0.284;0.381	T	0.72544	-0.4261	9	.	.	.	-21.3069	15.7464	0.77949	0.0:1.0:0.0:0.0	.	175;229	D6RDX7;Q6PCB8	.;EMB_HUMAN	K	229;201;175;179	ENSP00000302289:E229K;ENSP00000425215:E175K;ENSP00000426404:E179K	.	E	-	1	0	EMB	49734961	0.032000	0.19561	0.836000	0.33094	0.515000	0.34225	1.148000	0.31614	2.392000	0.81423	0.479000	0.44913	GAG		0.418	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1		NM_198449		13	57	0	0	0	0.016723	0	13	57		
IL31RA	133396	broad.mit.edu	37	5	55212787	55212787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:55212787C>T	ENST00000447346.2	+	15	2199	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.R570C|IL31RA_ENST00000354961.4_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	680					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAGGGGACCCGCCCAGAAGC	0.483																																						uc003jql.2		NaN																	0				ovary(1)	1						c.(2134-2136)CGC>TGC		gp130-like monocyte receptor							55.0	63.0	60.0					5																	55212787		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212787C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2134C>T	5.37:g.55212787C>T	ENSP00000415900:p.Arg712Cys					IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.R570C	p.R712C	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			15	2199	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	680			Cytoplasmic (Potential).		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.2134C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844270	0.16963	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.39592	1.27;1.07	5.22	-1.83	0.07833	.	3.689560	0.00166	N	0.000019	T	0.11239	0.0274	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19582	-1.0301	9	.	.	.	-5.0145	3.7679	0.08630	0.2693:0.1672:0.0:0.5634	.	712	Q8NI17-2	.	C	712;570	ENSP00000415900:R712C;ENSP00000427533:R570C	.	R	+	1	0	IL31RA	55248544	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.979000	0.03774	-0.060000	0.13132	-1.195000	0.01675	CGC		0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1		NM_139017		11	49	0	0	0	0.008291	0	11	49		
THBS4	7060	broad.mit.edu	37	5	79375841	79375841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:79375841G>A	ENST00000350881.2	+	20	2815	c.2625G>A	c.(2623-2625)tgG>tgA	p.W875*	THBS4_ENST00000511733.1_Nonsense_Mutation_p.W784*|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	875	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGTGGGCTGGAAGGACAAGG	0.597																																						uc003kgh.2		NaN																	0					0						c.(2623-2625)TGG>TGA		thrombospondin 4 precursor							96.0	93.0	94.0					5																	79375841		2203	4300	6503	SO:0001587	stop_gained	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79375841G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2625G>A	5.37:g.79375841G>A	ENSP00000339730:p.Trp875*					uc003kgi.3_Intron	p.W875*	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	21	2948	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	875			TSP C-terminal.		B2R909|Q86TG2	Nonsense_Mutation	SNP	ENST00000350881.2	37	c.2625G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	43	9.836620	0.99276	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0716	19.1006	0.93272	0.0:0.0:1.0:0.0	.	.	.	.	X	875;784	.	ENSP00000339730:W875X	W	+	3	0	THBS4	79411597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.820000	0.97059	0.650000	0.86243	TGG		0.597	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1				9	34	0	0	0	0.006214	0	9	34		
RASA1	5921	broad.mit.edu	37	5	86679590	86679590	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:86679590C>T	ENST00000274376.6	+	21	3315	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	RASA1_ENST00000512763.1_Silent_p.I750I|RASA1_ENST00000506290.1_Silent_p.I751I|RASA1_ENST00000456692.2_Silent_p.I740I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	917	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCAATATCATCTCAGGTA	0.274																																						uc003kiw.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2749-2751)ATC>ATT		RAS p21 protein activator 1 isoform 1							63.0	62.0	62.0					5																	86679590		2203	4300	6503	SO:0001819	synonymous_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86679590C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2751C>T	5.37:g.86679590C>T						RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.I740I|RASA1_uc011ctv.1_Silent_p.I750I|RASA1_uc011ctw.1_Silent_p.I751I|RASA1_uc010jaw.2_Silent_p.I739I	p.I917I	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	21	2869	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	917			Ras-GAP.		B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	c.2751C>T	CCDS34200.1																																																																																				0.274	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890		5	20	0	0	0	0.021553	0	5	20		
PCDHA13	56136	broad.mit.edu	37	5	140263361	140263361	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:140263361C>A	ENST00000289272.2	+	1	1508	c.1508C>A	c.(1507-1509)gCg>gAg	p.A503E	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A503E|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGTGCGCTGTCGAGC	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1507-1509)GCG>GAG		protocadherin alpha 13 isoform 1 precursor							62.0	62.0	62.0					5																	140263361		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263361C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1508C>A	5.37:g.140263361C>A	ENSP00000289272:p.Ala503Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A503E|PCDHA13_uc003lid.2_Missense_Mutation_p.A503E	p.A503E	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+			503			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1508C>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147241	0.37923	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50001	0.76;0.82	4.62	0.786	0.18590	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35595	0.0937	N	0.12746	0.255	0.22684	N	0.998858	B;B;B	0.30889	0.299;0.091;0.074	B;B;B	0.41860	0.368;0.352;0.153	T	0.44574	-0.9319	9	0.62326	D	0.03	.	8.445	0.32836	0.0:0.6673:0.0:0.3327	.	503;503;503	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	503	ENSP00000386821:A503E;ENSP00000289272:A503E	ENSP00000289272:A503E	A	+	2	0	PCDHA13	140243545	0.000000	0.05858	0.333000	0.25482	0.704000	0.40688	-0.067000	0.11579	-0.048000	0.13401	0.556000	0.70494	GCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1		NM_018904		19	65	1	0	0.000132079	0.008871	0.000137198	19	65		
ZNF354B	117608	broad.mit.edu	37	5	178310335	178310335	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:178310335G>A	ENST00000322434.3	+	5	1108	c.882G>A	c.(880-882)gtG>gtA	p.V294V	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATACTGTGGAGAAATGCT	0.378																																						uc003mjl.2		NaN																	0				ovary(2)	2						c.(880-882)GTG>GTA		zinc finger protein 354B							72.0	73.0	73.0					5																	178310335		2203	4298	6501	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310335G>A	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.882G>A	5.37:g.178310335G>A						ZNF354B_uc003mjm.2_Silent_p.V294V	p.V294V	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1108	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	294					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.882G>A	CCDS4439.1																																																																																				0.378	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1		NM_058230		31	81	0	0	0	0.009535	0	31	81		
ADAMTS2	9509	broad.mit.edu	37	5	178579179	178579179	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:178579179C>T	ENST00000251582.7	-	10	1694	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	ADAMTS2_ENST00000274609.5_Silent_p.G531G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	531	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAAGGGGGGCCCCTTCTTGG	0.592																																						uc003mjw.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1591-1593)GGG>GGA		ADAM metallopeptidase with thrombospondin type 1							70.0	65.0	67.0					5																	178579179		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579179C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1593G>A	5.37:g.178579179C>T						ADAMTS2_uc011dgm.1_Silent_p.G531G	p.G531G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	10	1593	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	531			Disintegrin.			Silent	SNP	ENST00000251582.7	37	c.1593G>A	CCDS4444.1																																																																																				0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		6	36	0	0	0	0.021553	0	6	36		
OR2J2	26707	broad.mit.edu	37	6	29141694	29141694	+	Silent	SNP	G	G	A	rs189491464	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr6:29141694G>A	ENST00000377167.2	+	1	384	c.282G>A	c.(280-282)tcG>tcA	p.S94S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGACCATCTCGTATGCTGGTT	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		19062	0.0		0.0	False		,,,				2504	0.002					uc011dlm.1		NaN																	0					0						c.(280-282)TCG>TCA		olfactory receptor, family 2, subfamily J,		G		0,3994		0,0,1997	202.0	182.0	188.0		282	-0.9	0.8	6		188	1,8351		0,1,4175	no	coding-synonymous	OR2J2	NM_030905.2		0,1,6172	AA,AG,GG		0.012,0.0,0.0081		94/313	29141694	1,12345	1997	4176	6173	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141694G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.282G>A	6.37:g.29141694G>A							p.S94S	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	384	+			94			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.282G>A	CCDS43434.1																																																																																				0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2				9	184	0	0	0	0.006214	0	9	184		
ENPP1	5167	broad.mit.edu	37	6	132204911	132204911	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr6:132204911C>G	ENST00000360971.2	+	22	2328	c.2308C>G	c.(2308-2310)Caa>Gaa	p.Q770E		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	770	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCAGAGTTTTCAAGGTAAATA	0.274																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2308-2310)CAA>GAA		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						60.0	71.0	68.0					6																	132204911		2191	4276	6467	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132204911C>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2308C>G	6.37:g.132204911C>G	ENSP00000354238:p.Gln770Glu						p.Q770E	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	22	2328	+	Breast(56;0.0505)		770			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2308C>G	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459037	0.63401	.	.	ENSG00000197594	ENST00000360971	T	0.68624	-0.34	5.56	5.56	0.83823	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.120385	0.56097	D	0.000036	T	0.65595	0.2706	M	0.81239	2.535	0.38146	D	0.938605	P	0.42161	0.772	B	0.44044	0.439	T	0.72268	-0.4343	10	0.54805	T	0.06	-18.0764	15.0784	0.72093	0.1424:0.8575:0.0:0.0	.	770	P22413	ENPP1_HUMAN	E	770	ENSP00000354238:Q770E	ENSP00000354238:Q770E	Q	+	1	0	ENPP1	132246604	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.283000	0.43470	2.615000	0.88500	0.591000	0.81541	CAA		0.274	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2				21	44	0	0	0	0.010504	0	21	44		
VWC2	375567	broad.mit.edu	37	7	49951714	49951714	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr7:49951714A>T	ENST00000340652.4	+	4	1467	c.911A>T	c.(910-912)tAt>tTt	p.Y304F	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	304					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CACTGTACTTATGAGGAAGGC	0.493																																						uc003tot.1		NaN																	0					0						c.(910-912)TAT>TTT		von Willebrand factor C domain containing 2							120.0	104.0	109.0					7																	49951714		2203	4300	6503	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49951714A>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.911A>T	7.37:g.49951714A>T	ENSP00000341819:p.Tyr304Phe						p.Y304F	NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN			4	1467	+			304					Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.911A>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765078	0.90020	.	.	ENSG00000188730	ENST00000340652	T	0.31769	1.48	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000010	T	0.31136	0.0787	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.03807	-1.1002	10	0.23302	T	0.38	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	304	Q2TAL6	VWC2_HUMAN	F	304	ENSP00000341819:Y304F	ENSP00000341819:Y304F	Y	+	2	0	VWC2	49922260	1.000000	0.71417	0.678000	0.29963	0.889000	0.51656	8.458000	0.90364	2.221000	0.72209	0.528000	0.53228	TAT		0.493	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2		NM_198570		14	40	0	0	0	0.024245	0	14	40		
ZCWPW1	55063	broad.mit.edu	37	7	100013666	100013666	+	Missense_Mutation	SNP	C	C	T	rs577472355		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr7:100013666C>T	ENST00000398027.2	-	8	930	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R108Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R108Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.R229Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	228							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTTTAGTCGGTCTTCCTG	0.443													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21219	0.0		0.0	False		,,,				2504	0.0					uc003uut.2		NaN																	0					0						c.(682-684)CGA>CAA		zinc finger, CW type with PWWP domain 1							240.0	218.0	225.0					7																	100013666		1894	4110	6004	SO:0001583	missense	55063						zinc ion binding	g.chr7:100013666C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.683G>A	7.37:g.100013666C>T	ENSP00000381109:p.Arg228Gln					ZCWPW1_uc011kjq.1_Missense_Mutation_p.R108Q|ZCWPW1_uc003uur.2_Missense_Mutation_p.R108Q|ZCWPW1_uc003uus.2_Missense_Mutation_p.R108Q|ZCWPW1_uc011kjr.1_Missense_Mutation_p.R228Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.R228Q|ZCWPW1_uc011kjs.1_Missense_Mutation_p.R108Q	p.R228Q	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			8	931	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		228					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.683G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.746987	0.00669	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.49432	0.92;0.81;0.78;0.81	5.15	2.82	0.32997	.	0.493712	0.17251	N	0.181175	T	0.16428	0.0395	N	0.01168	-0.975	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001	T	0.26538	-1.0100	9	.	.	.	-0.0933	6.6693	0.23060	0.0:0.2741:0.0:0.7259	.	229;189;230;228;108	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	Q	228;108;229;108;230	ENSP00000381109:R228Q;ENSP00000419187:R108Q;ENSP00000354210:R229Q;ENSP00000314880:R108Q	.	R	-	2	0	ZCWPW1	99851602	0.009000	0.17119	0.208000	0.23602	0.022000	0.10575	0.331000	0.19733	0.116000	0.18110	-0.972000	0.02603	CGA		0.443	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1		NM_017984		11	130	0	0	0	0.008291	0	11	130		
CSMD1	64478	broad.mit.edu	37	8	2876065	2876065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:2876065C>T	ENST00000520002.1	-	53	8521	c.7966G>A	c.(7966-7968)Gtg>Atg	p.V2656M	CSMD1_ENST00000537824.1_Missense_Mutation_p.V2655M|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2656M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2656	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGACCCCACAAGCGTGTAG	0.498																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(7966-7968)GTG>ATG		CUB and Sushi multiple domains 1 precursor							196.0	193.0	194.0					8																	2876065		1981	4157	6138	SO:0001583	missense	64478					integral to membrane		g.chr8:2876065C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7966G>A	8.37:g.2876065C>T	ENSP00000430733:p.Val2656Met					CSMD1_uc011kwj.1_Missense_Mutation_p.V1985M|CSMD1_uc010lrg.2_Intron	p.V2656M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8356	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2656			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7966G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.876352|2.876352	0.51801|0.51801	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.65364	.|-0.15;-0.15	5.19|5.19	5.19|5.19	0.71726|0.71726	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.79799|0.79799	0.4508|0.4508	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|P;D	.|0.63880	.|0.942;0.993	.|P;D	.|0.72075	.|0.776;0.976	T|T	0.81762|0.81762	-0.0784|-0.0784	5|10	.|0.72032	.|D	.|0.01	.|.	19.093|19.093	0.93235|0.93235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2656;2656	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	Y|M	2072|2656;2517;2655	.|ENSP00000430733:V2656M;ENSP00000441462:V2655M	.|ENSP00000320445:V2517M	C|V	-|-	2|1	0|0	CSMD1|CSMD1	2863472|2863472	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.028000|0.028000	0.11728|0.11728	7.612000|7.612000	0.82975|0.82975	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		69	108	0	0	0	0.01441	0	69	108		
ADAM2	2515	broad.mit.edu	37	8	39604116	39604116	+	Missense_Mutation	SNP	T	T	A	rs142592344	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:39604116T>A	ENST00000265708.4	-	19	2152	c.2049A>T	c.(2047-2049)aaA>aaT	p.K683N	ADAM2_ENST00000379853.2_Missense_Mutation_p.K527N|ADAM2_ENST00000347580.4_Missense_Mutation_p.K664N|ADAM2_ENST00000521880.1_Missense_Mutation_p.K620N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	683					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATCTCATTGGTTTGGAATGGT	0.299													.|||	2	0.000399361	0.0	0.0	5008	,	,		13866	0.0		0.002	False		,,,				2504	0.0					uc003xnj.2		NaN																	0				ovary(1)|lung(1)	2						c.(2047-2049)AAA>AAT		ADAM metallopeptidase domain 2 proprotein		T	ASN/LYS	0,4406		0,0,2203	97.0	100.0	99.0		2049	2.4	0.0	8	dbSNP_134	99	30,8566	21.6+/-65.8	0,30,4268	yes	missense	ADAM2	NM_001464.3	94	0,30,6471	AA,AT,TT		0.349,0.0,0.2307	probably-damaging	683/736	39604116	30,12972	2203	4298	6501	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39604116T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2049A>T	8.37:g.39604116T>A	ENSP00000265708:p.Lys683Asn					ADAM2_uc003xnk.2_Missense_Mutation_p.K664N|ADAM2_uc011lck.1_Missense_Mutation_p.K620N|ADAM2_uc003xnl.2_Missense_Mutation_p.K527N	p.K683N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	19	2124	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	683			Extracellular (Potential).		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.2049A>T	CCDS34884.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	12.63	1.996297	0.35226	0.0	0.00349	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	3.57	2.41	0.29592	.	.	.	.	.	D	0.84727	0.5536	L	0.38531	1.155	0.09310	N	1	D;P;P;D	0.63880	0.981;0.845;0.82;0.993	P;B;B;P	0.58454	0.617;0.326;0.446;0.839	T	0.72161	-0.4374	9	0.15066	T	0.55	.	5.5105	0.16878	0.0:0.1282:0.0:0.8718	.	620;527;664;683	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	N	664;527;683;620	ENSP00000343854:K664N;ENSP00000369182:K527N;ENSP00000265708:K683N;ENSP00000429352:K620N	ENSP00000265708:K683N	K	-	3	2	ADAM2	39723273	0.004000	0.15560	0.002000	0.10522	0.042000	0.13812	0.332000	0.19751	0.722000	0.32252	0.477000	0.44152	AAA		0.299	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464		23	113	0	0	0	0.01892	0	23	113		
DPY19L4	286148	broad.mit.edu	37	8	95751649	95751649	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:95751649G>A	ENST00000414645.2	+	5	451	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	118						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGGTGTTTACGAACTGACACA	0.313																																						uc003ygx.2		NaN																	0				ovary(2)	2						c.(352-354)GAA>AAA		dpy-19-like 4							84.0	84.0	84.0					8																	95751649		2203	4299	6502	SO:0001583	missense	286148					integral to membrane		g.chr8:95751649G>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.352G>A	8.37:g.95751649G>A	ENSP00000389630:p.Glu118Lys					DPY19L4_uc003ygy.2_Missense_Mutation_p.E55K	p.E118K	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			5	476	+	Breast(36;3.85e-06)		118					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.352G>A	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702224|2.702224	0.48307|0.48307	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519176|ENST00000519353	T;T;T|.	0.54279|.	0.58;0.58;0.58|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70430|0.70430	0.3223|0.3223	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.63046|.	0.977;0.992|.	P;P|.	0.52856|.	0.5;0.711|.	T|T	0.66188|0.66188	-0.5986|-0.5986	10|5	0.06625|.	T|.	0.88|.	-18.4592|-18.4592	16.6714|16.6714	0.85268|0.85268	0.0:0.1294:0.8706:0.0|0.0:0.1294:0.8706:0.0	.|.	46;118|.	E5RGB7;Q7Z388|.	.;D19L4_HUMAN|.	K|Q	46;118;89|49	ENSP00000428762:E46K;ENSP00000389630:E118K;ENSP00000430417:E89K|.	ENSP00000389630:E118K|.	E|R	+|+	1|2	0|0	DPY19L4|DPY19L4	95820825|95820825	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.974000|0.974000	0.67602|0.67602	6.812000|6.812000	0.75226|0.75226	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.313	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1		NM_181787		7	103	0	0	0	0.00308	0	7	103		
PDCL	5082	broad.mit.edu	37	9	125585294	125585294	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:125585294C>A	ENST00000259467.4	-	3	520		c.e3+1			NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like						heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGCTAATTACCTTCCCACTG	0.483																																						uc004bmz.1		NaN																	0					0						c.e3+1		phosducin-like							232.0	192.0	205.0					9																	125585294		2203	4300	6503	SO:0001630	splice_region_variant	5082				signal transduction|visual perception			g.chr9:125585294C>A	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.354+1G>T	9.37:g.125585294C>A						PDCL_uc004bna.2_Splice_Site_p.K118_splice	p.K118_splice	NM_005388	NP_005379	Q13371	PHLP_HUMAN			3	450	-								Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Splice_Site	SNP	ENST00000259467.4	37	c.354_splice	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324627	0.81580	.	.	ENSG00000136940	ENST00000436632;ENST00000259467;ENST00000394285	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6339	0.88117	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDCL	124625115	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.482000	0.81143	2.723000	0.93209	0.563000	0.77884	.		0.483	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1		NM_005388	Intron	42	60	1	0	3.54561e-26	0.009718	3.92654e-26	42	60		
SUPT20HL2	170067	broad.mit.edu	37	X	24329557	24329557	+	IGR	SNP	C	C	T	rs190214531		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:24329557C>T								AC096509.1 (24763 upstream) : AC004552.1 (37368 downstream)																							TGCACTGCACCGGGCCTTGCA	0.622													C|||	6	0.0015894	0.0	0.0	3775	,	,		13282	0.0		0.005	False		,,,				2504	0.001					uc011mjw.1		NaN																	0					0						c.(1876-1878)GGT>AGT		family with sequence similarity 48, member B2		C	SER/GLY	2,2625		0,1,1,1058,508	41.0	39.0	40.0		1876	-6.2	0.0	X		40	27,5467		0,20,7,1894,1659	no	missense	FAM48B2	NM_001136233.1	56	0,21,8,2952,2167	TT,TC,T,CC,C		0.4914,0.0761,0.3571	benign	626/818	24329557	29,8092	1568	3580	5148	SO:0001628	intergenic_variant	170067							g.chrX:24329557C>T																													X.37:g.24329557C>T							p.G626S	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	1876	-			626						Missense_Mutation	SNP		37	c.1876G>A																																																																																				0	0.622										4	31	0	0	0	0.009096	0	4	31		
IL2RG	3561	broad.mit.edu	37	X	70331384	70331384	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:70331384C>T	ENST00000374202.2	-	1	97	c.6G>A	c.(4-6)ttG>ttA	p.L2L	IL2RG_ENST00000456850.2_5'Flank|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	2					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATGATGGCTTCAACATGGCGC	0.552									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1		NaN																	0				pancreas(1)	1						c.(4-6)TTG>TTA		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						229.0	142.0	172.0					X																	70331384		2203	4300	6503	SO:0001819	synonymous_variant	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70331384C>T	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.6G>A	X.37:g.70331384C>T						IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR	p.L2L	NM_000206	NP_000197	P31785	IL2RG_HUMAN			1	20	-	Renal(35;0.156)		2					Q5FC12	Silent	SNP	ENST00000374202.2	37	c.6G>A	CCDS14406.1																																																																																				0.552	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2				9	18	0	0	0	0.004482	0	9	18		
ATP7A	538	broad.mit.edu	37	X	77268496	77268496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:77268496C>T	ENST00000341514.6	+	10	2448	c.2293C>T	c.(2293-2295)Ctt>Ttt	p.L765F	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	765					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTTGATTATTCTTCTAGTTGC	0.423																																						uc004ecx.3		NaN																	0					0						c.(2293-2295)CTT>TTT		ATPase, Cu++ transporting, alpha polypeptide							248.0	202.0	218.0					X																	77268496		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77268496C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2293C>T	X.37:g.77268496C>T	ENSP00000345728:p.Leu765Phe						p.L765F	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			10	2453	+			765			Extracellular (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2293C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211396	0.79240	.	.	ENSG00000165240	ENST00000341514	D	0.95412	-3.7	5.64	5.64	0.86602	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.97771	1.0226	10	0.72032	D	0.01	0.0189	15.0098	0.71542	0.0:0.8612:0.1388:0.0	.	765	Q04656	ATP7A_HUMAN	F	765	ENSP00000345728:L765F	ENSP00000345728:L765F	L	+	1	0	ATP7A	77155152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.882000	0.63121	2.377000	0.81083	0.468000	0.43344	CTT		0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052		59	61	0	0	0	0.01441	0	59	61		
MAGEC3	139081	broad.mit.edu	37	X	140969332	140969332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:140969332G>A	ENST00000298296.1	+	4	659	c.659G>A	c.(658-660)gGc>gAc	p.G220D	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	220	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACATACACGGGCTACTTTCCT	0.438																																						uc011mwp.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(658-660)GGC>GAC		melanoma antigen family C, 3 isoform 1							163.0	146.0	152.0					X																	140969332		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140969332G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.659G>A	X.37:g.140969332G>A	ENSP00000298296:p.Gly220Asp						p.G220D	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	659	+	Acute lymphoblastic leukemia(192;6.56e-05)		220			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.659G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	0.442	-0.897912	0.02472	.	.	ENSG00000165509	ENST00000298296	T	0.04234	3.67	2.26	-3.15	0.05233	.	.	.	.	.	T	0.01124	0.0037	N	0.01081	-1.03	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43540	-0.9385	9	0.02654	T	1	.	2.9737	0.05930	0.3888:0.2527:0.3585:0.0	.	220	Q8TD91	MAGC3_HUMAN	D	220	ENSP00000298296:G220D	ENSP00000298296:G220D	G	+	2	0	MAGEC3	140796998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.559000	0.05971	-0.655000	0.05387	-0.535000	0.04281	GGC		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1		NM_138702		56	47	0	0	0	0.01441	0	56	47		
ELF3	1999	broad.mit.edu	37	1	201983027	201983028	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:201983027_201983028insA	ENST00000359651.3	+	7	4068_4069	c.876_877insA	c.(877-879)atgfs	p.M293fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.M293fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.M293fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ACGAGGGCCTCATGAAGTGGGA	0.574																																						uc001gxg.3		NaN																	0					0						c.(874-879)CTCATGfs		E74-like factor 3 (ets domain transcription																																				SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201983027_201983028insA	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.877dupA	1.37:g.201983028_201983028dupA	ENSP00000352673:p.Met293fs					ELF3_uc001gxi.3_Frame_Shift_Ins_p.L292fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.L292fs	p.L292fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			7	4068_4069	+			292_293			ETS.			Frame_Shift_Ins	INS	ENST00000359651.3	37	c.876_877insA	CCDS1419.1																																																																																				0.574	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		7	20	NaN	NaN	NaN	NaN	NaN	7	20	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						uc001hyi.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2092-2094)CAAfs		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_uc010pxw.1_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Frame_Shift_Del_p.Q552fs	p.Q698fs	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2516	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2		NM_000254		7	132	NaN	NaN	NaN	NaN	NaN	7	132	---	---
ZWILCH	55055	broad.mit.edu	37	15	66820228	66820229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr15:66820228_66820229insA	ENST00000307897.5	+	10	1327_1328	c.947_948insA	c.(946-951)acaaaafs	p.TK316fs	ZWILCH_ENST00000446801.2_Frame_Shift_Ins_p.TK202fs|ZWILCH_ENST00000565627.1_Frame_Shift_Ins_p.TK202fs|ZWILCH_ENST00000535141.2_Frame_Shift_Ins_p.TK202fs	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	316					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GGTGATTCTACAAAAAAAGACA	0.317																																						uc002aqb.2		NaN																	0				ovary(1)	1						c.(946-948)ACAfs		Zwilch																																				SO:0001589	frameshift_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66820228_66820229insA	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.954dupA	15.37:g.66820235_66820235dupA	ENSP00000311429:p.Thr316fs					ZWILCH_uc010bhu.1_Frame_Shift_Ins_p.T202fs|ZWILCH_uc002aqa.2_Frame_Shift_Ins_p.T202fs|ZWILCH_uc010bhv.2_Frame_Shift_Ins_p.T202fs	p.T316fs	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			10	1193_1194	+			316					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Frame_Shift_Ins	INS	ENST00000307897.5	37	c.947_948insA	CCDS10219.1																																																																																				0.317	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4		NM_017975		26	46	NaN	NaN	NaN	NaN	NaN	26	46	---	---
TMEM102	284114	broad.mit.edu	37	17	7340636	7340636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:7340636delG	ENST00000323206.1	+	3	1611	c.1338delG	c.(1336-1338)gagfs	p.E446fs	TMEM102_ENST00000396568.1_Frame_Shift_Del_p.E446fs|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	446					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GAGTGCTCGAGGCCGGGACGT	0.697																																						uc002ggx.1		NaN																	0					0						c.(1336-1338)GAGfs		transmembrane protein 102							9.0	11.0	10.0					17																	7340636		2157	4278	6435	SO:0001589	frameshift_variant	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340636delG	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.1338delG	17.37:g.7340636delG	ENSP00000315387:p.Glu446fs					FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Frame_Shift_Del_p.E446fs|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	p.E446fs	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			3	1611	+		Prostate(122;0.173)	446			Cytoplasmic (Potential).		D3DTP8	Frame_Shift_Del	DEL	ENST00000323206.1	37	c.1338delG	CCDS11104.1																																																																																				0.697	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1		NM_178518		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						uc003ahl.2		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(364-366)CAGdel		splicing factor 3a, subunit 1, 120kDa isoform 1																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del						p.Q122del	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			3	496_498	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877		8	97	NaN	NaN	NaN	NaN	NaN	8	97	---	---
TCTA	6988	broad.mit.edu	37	3	49450045	49450047	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:49450045_49450047delTAC	ENST00000273590.3	+	1	407_409	c.186_188delTAC	c.(184-189)aataca>aaa	p.62_63NT>K	TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000265538.3_Intron	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	62						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTACGGGAATACAGTGACCGGG	0.635																																						uc003cwv.3		NaN																	0					0						c.(184-189)AATACA>AAA		T-cell leukemia translocation altered																																				SO:0001651	inframe_deletion	6988					integral to membrane		g.chr3:49450045_49450047delTAC		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.186_188delTAC	3.37:g.49450045_49450047delTAC	ENSP00000273590:p.Asn62_Thr63delinsLys					RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	p.62_63NT>K	NM_022171	NP_071503	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	407_409	+			62_63			Extracellular (Potential).		B2R4I4|Q6I9U4|Q9BSB0	In_Frame_Del	DEL	ENST00000273590.3	37	c.186_188delTAC	CCDS2796.1																																																																																				0.635	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1		NM_022171		30	84	NaN	NaN	NaN	NaN	NaN	30	84	---	---
C9orf41	138199	broad.mit.edu	37	9	77642981	77642983	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:77642981_77642983delCTC	ENST00000376834.3	-	1	327_329	c.175_177delGAG	c.(175-177)gagdel	p.E59del	C9orf41_ENST00000376837.3_In_Frame_Del_p.E59del|C9orf41_ENST00000376830.3_In_Frame_Del_p.E59del	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	59										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GCTCAAGCCTCTCCTCCTCCTCC	0.695																																						uc004ajq.2		NaN																	0				ovary(1)|skin(1)	2						c.(175-177)GAGdel		hypothetical protein LOC138199				112,4060		5,102,1979						-3.0	0.9			14	316,7808		9,298,3755	no	coding	C9orf41	NM_152420.1		14,400,5734	A1A1,A1R,RR		3.8897,2.6846,3.4808				428,11868				SO:0001651	inframe_deletion	138199							g.chr9:77642981_77642983delCTC	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.175_177delGAG	9.37:g.77642990_77642992delCTC	ENSP00000366030:p.Glu59del					C9orf41_uc011lsi.1_RNA	p.E59del	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			1	328_330	-			59					Q7Z383|Q8N7C5	In_Frame_Del	DEL	ENST00000376834.3	37	c.175_177delGAG	CCDS6649.1																																																																																				0.695	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1		NM_152420		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SPTAN1	6709	broad.mit.edu	37	9	131388682	131388682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:131388682delT	ENST00000372731.4	+	48	6387	c.6277delT	c.(6277-6279)ttcfs	p.F2093fs	SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.F2098fs|SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.F2098fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2093					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGGACCTCTTCCTGACCTT	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6277-6279)TTCfs		spectrin, alpha, non-erythrocytic 1							131.0	132.0	131.0					9																	131388682		2203	4300	6503	SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388682delT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6277delT	9.37:g.131388682delT	ENSP00000361816:p.Phe2093fs					SPTAN1_uc004bvm.3_Frame_Shift_Del_p.F2098fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.F2073fs|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	p.F2093fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			48	6390	+			2093			Spectrin 22.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	ENST00000372731.4	37	c.6277delT	CCDS6905.1																																																																																				0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		38	90	NaN	NaN	NaN	NaN	NaN	38	90	---	---
STAG2	10735	broad.mit.edu	37	X	123227957	123227974	+	In_Frame_Del	DEL	ATGAGGGAATGGATTTTG	ATGAGGGAATGGATTTTG	-	rs372132155		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			ATGAGGGAATGGATTTTG	-	ATGAGGGAATGGATTTTG	ATGAGGGAATGGATTTTG		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:123227957_123227974delATGAGGGAATGGATTTTG	ENST00000371160.1	+	32	3847_3864	c.3557_3574delATGAGGGAATGGATTTTG	c.(3556-3576)aatgagggaatggattttgac>aac	p.EGMDFD1187del	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_In_Frame_Del_p.EGMDFD1224del|STAG2_ENST00000218089.9_In_Frame_Del_p.EGMDFD1224del|STAG2_ENST00000371157.3_In_Frame_Del_p.EGMDFD1187del|STAG2_ENST00000371144.3_In_Frame_Del_p.EGMDFD1187del|STAG2_ENST00000354548.5_In_Frame_Del_p.EGMDFD1118del	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1187					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAGGATCTTAATGAGGGAATGGATTTTGACACCATGGA	0.353																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(3556-3576)AATGAGGGAATGGATTTTGAC>AAC		stromal antigen 2 isoform b																																				SO:0001651	inframe_deletion	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123227957_123227974delATGAGGGAATGGATTTTG	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3557_3574delATGAGGGAATGGATTTTG	X.37:g.123227957_123227974delATGAGGGAATGGATTTTG	ENSP00000360202:p.Glu1187_Asp1192del					STAG2_uc004eua.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eub.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004euc.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eud.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004eue.2_In_Frame_Del_p.EGMDFD1187del	p.EGMDFD1187del	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			31	3896_3913	+			1187_1192					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	In_Frame_Del	DEL	ENST00000371160.1	37	c.3557_3574delATGAGGGAATGGATTTTG	CCDS14607.1																																																																																				0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		10	42	NaN	NaN	NaN	NaN	NaN	10	42	---	---
