#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
ACSF2	80221	hgsc.bcm.edu	37	17	48549820	48549820	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr17:48549820T>C	ENST00000300441.4	+	12	1459	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	ACSF2_ENST00000427954.2_Missense_Mutation_p.L477P|ACSF2_ENST00000541920.1_Missense_Mutation_p.L292P|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Missense_Mutation_p.L439P|ACSF2_ENST00000504392.1_Missense_Mutation_p.L409P	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	452					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGACGCTGGCAAAGCTG	0.592																																																	0													77.0	68.0	71.0					17																	48549820		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1355T>C	17.37:g.48549820T>C	ENSP00000300441:p.Leu452Pro		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651581	0.29336	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.09	3.9	0.45041	AMP-dependent synthetase/ligase (1);	1.629090	0.03468	N	0.213264	T	0.24005	0.0581	N	0.03294	-0.36	0.22127	N	0.999342	B;B;B;B	0.15719	0.014;0.014;0.014;0.014	B;B;B;B	0.21360	0.021;0.021;0.034;0.021	T	0.11817	-1.0572	10	0.40728	T	0.16	-4.6127	5.9835	0.19421	0.1615:0.095:0.0:0.7435	.	439;477;409;452	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	P	452;292;409;477;439	ENSP00000300441:L452P;ENSP00000437987:L292P;ENSP00000425964:L409P;ENSP00000401831:L477P;ENSP00000421884:L439P	ENSP00000300441:L452P	L	+	2	0	ACSF2	45904819	0.006000	0.16342	0.003000	0.11579	0.032000	0.12392	1.717000	0.37991	1.913000	0.55393	0.454000	0.30748	CTG		0.592	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	
ACSS3	79611	hgsc.bcm.edu	37	12	81503485	81503485	+	Splice_Site	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:81503485T>C	ENST00000548058.1	+	2	1366		c.e2+2		RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGGAGCAGGTAATATCATAA	0.299																																																	0													60.0	62.0	61.0					12																	81503485		2202	4300	6502	SO:0001630	splice_region_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.456+2T>C	12.37:g.81503485T>C			Q8NC66	Splice_Site	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009220	0.75046	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3473	0.74350	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSS3	80027616	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.612000	0.74187	2.326000	0.78906	0.533000	0.62120	.		0.299	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560	Intron
ALMS1	7840	hgsc.bcm.edu	37	2	73675227	73675228	+	In_Frame_Ins	INS	-	-	CTC	rs34628045|rs199801824|rs587621330	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:73675227_73675228insCTC	ENST00000264448.6	+	8	1681_1682	c.1570_1571insCTC	c.(1570-1572)tct>tCTCct	p.524_525insP	ALMS1_ENST00000377715.1_In_Frame_Ins_p.524_525insP|ALMS1_ENST00000409009.1_In_Frame_Ins_p.482_483insP	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	524				S -> SP (in Ref. 1; CAD10391). {ECO:0000305}.	endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S524P(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCTGTAAGTTCTCTAGAAACT	0.421														3007	0.600439	0.2912	0.7046	5008	,	,		17151	0.7847		0.6581	False		,,,				2504	0.6953																1	Substitution - Missense(1)	pancreas(1)								1351,2331		279,793,769						1.4	0.0		dbSNP_134	97	5015,2861		1592,1831,515	no	coding	ALMS1	NM_015120.4		1871,2624,1284	A1A1,A1R,RR		36.3255,36.692,44.9213				6366,5192				SO:0001652	inframe_insertion	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1571_1573dupCTC	2.37:g.73675228_73675230dupCTC	ENSP00000264448:p.Ser524_Leu525insPro		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	ENST00000264448.6	37	CCDS42697.1																																																																																				0.421	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
AMOT	154796	hgsc.bcm.edu	37	X	112022297	112022298	+	In_Frame_Ins	INS	-	-	AGG	rs373265985|rs147791784		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chrX:112022297_112022298insAGG	ENST00000524145.1	-	11	3158_3159	c.3084_3085insCCT	c.(3082-3087)cctgca>cctCCTgca	p.1028_1029insP	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_In_Frame_Ins_p.1028_1029insP|AMOT_ENST00000371962.1_In_Frame_Ins_p.796_797insP|AMOT_ENST00000304758.1_In_Frame_Ins_p.619_620insP			Q4VCS5	AMOT_HUMAN	angiomotin	1028					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCTGGACTTGCAGGAACCTCAG	0.525														154	0.0407947	0.0242	0.0346	3775	,	,		13612	0.0		0.0706	False		,,,				2504	0.0276																0									,	118,3603		1,92,24,1499,513					,	3.4	1.0		dbSNP_134	104	510,5974		11,346,142,2000,1628	no	coding,coding	AMOT	NM_133265.2,NM_001113490.1	,	12,438,166,3499,2141	A1A1,A1R,A1,RR,R		7.8655,3.1712,6.1538	,	,		628,9577				SO:0001652	inframe_insertion	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3082_3084dupCCT	X.37:g.112022298_112022300dupAGG	ENSP00000429013:p.Pro1028_Pro1028dup		Q504X5|Q9HD27|Q9UPT1	In_Frame_Ins	INS	ENST00000524145.1	37	CCDS48154.1																																																																																				0.525	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1		NM_133265	
ARFGAP2	84364	hgsc.bcm.edu	37	11	47195002	47195002	+	Silent	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:47195002A>C	ENST00000524782.1	-	7	822	c.594T>G	c.(592-594)ctT>ctG	p.L198L	ARFGAP2_ENST00000419701.2_Silent_p.L91L|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000319543.6_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	198	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGAGGTGCCAAGCAGGTCTG	0.562																																																	0													63.0	52.0	56.0					11																	47195002		2196	4285	6481	SO:0001819	synonymous_variant	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.594T>G	11.37:g.47195002A>C			B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Silent	SNP	ENST00000524782.1	37	CCDS7926.1																																																																																				0.562	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1		NM_032389	
ARCN1	372	hgsc.bcm.edu;ucsc.edu	37	11	118454621	118454621	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:118454621G>T	ENST00000264028.4	+	4	640	c.545G>T	c.(544-546)gGa>gTa	p.G182V	ARCN1_ENST00000392859.3_Missense_Mutation_p.G94V|ARCN1_ENST00000359415.4_Missense_Mutation_p.G223V|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	182					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAGCACCAGGATTTGGCGGA	0.488																																																	0													126.0	110.0	116.0					11																	118454621		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.545G>T	11.37:g.118454621G>T	ENSP00000264028:p.Gly182Val		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628652	0.46944	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.70045	-0.45;-0.45;-0.45	6.02	6.02	0.97574	.	0.144850	0.64402	D	0.000009	T	0.75613	0.3873	M	0.64260	1.97	0.80722	D	1	P;P;D	0.57899	0.878;0.795;0.981	P;B;P	0.54856	0.481;0.209;0.762	T	0.69202	-0.5207	10	0.22706	T	0.39	-18.1095	20.1358	0.98028	0.0:0.0:1.0:0.0	.	94;223;182	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	94;223;182	ENSP00000376599:G94V;ENSP00000352385:G223V;ENSP00000264028:G182V	ENSP00000264028:G182V	G	+	2	0	ARCN1	117959831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.865000	0.98341	0.655000	0.94253	GGA		0.488	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			
PRRC2B	84726	hgsc.bcm.edu	37	9	134308050	134308050	+	Silent	SNP	C	C	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:134308050C>G	ENST00000357304.4	+	2	217	c.162C>G	c.(160-162)gcC>gcG	p.A54A	PRRC2B_ENST00000458550.1_Silent_p.A54A|PRRC2B_ENST00000405995.1_Silent_p.A54A	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	54							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTGCTGCAGCCCGGCGCATGC	0.527																																																	0													61.0	67.0	65.0					9																	134308050		1944	4161	6105	SO:0001819	synonymous_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.162C>G	9.37:g.134308050C>G			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																				0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
C12orf60	144608	hgsc.bcm.edu	37	12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-	rs202023163|rs10556010|rs139293175	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401														952	0.190096	0.323	0.0893	5008	,	,		19363	0.0823		0.1431	False		,,,				2504	0.2413																0										1110,3154		144,822,1166						1.4	0.0		dbSNP_119	49	1274,6978		101,1072,2953	no	frameshift	C12orf60	NM_175874.3		245,1894,4119	A1A1,A1R,RR		15.4387,26.0319,19.0476				2384,10132				SO:0001589	frameshift_variant	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.549_550delTA	12.37:g.14976418_14976419delTA	ENSP00000331691:p.Met184fs		A8K1M7|Q5XKK8|Q8IXY2	Frame_Shift_Del	DEL	ENST00000330828.2	37	CCDS8667.1																																																																																				0.401	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1		NM_175874	
C9orf3	84909	hgsc.bcm.edu	37	9	97522820	97522820	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:97522820C>A	ENST00000375315.2	+	1	755	c.755C>A	c.(754-756)cCt>cAt	p.P252H	C9orf3_ENST00000277198.2_Missense_Mutation_p.P252H|C9orf3_ENST00000297979.5_Missense_Mutation_p.P252H	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	252					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAAACTAAACCTGAAGGGCGA	0.493																																																	0													58.0	54.0	55.0					9																	97522820		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.755C>A	9.37:g.97522820C>A	ENSP00000364464:p.Pro252His		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446493	0.63178	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6;3.6	4.79	4.79	0.61399	.	0.143856	0.46442	D	0.000289	T	0.22820	0.0551	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.991;0.964;0.996	T	0.00460	-1.1726	10	0.87932	D	0	-10.3594	18.3896	0.90478	0.0:1.0:0.0:0.0	.	252;252;252;252	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	H	252;252;252;126;75;34	ENSP00000277198:P252H;ENSP00000297979:P252H;ENSP00000364464:P252H;ENSP00000387736:P126H;ENSP00000402171:P75H;ENSP00000401854:P34H	ENSP00000277198:P252H	P	+	2	0	C9orf3	96562641	1.000000	0.71417	0.992000	0.48379	0.893000	0.52053	7.115000	0.77110	2.648000	0.89879	0.467000	0.42956	CCT		0.493	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823	
CASQ1	844	hgsc.bcm.edu;ucsc.edu	37	1	160167358	160167358	+	Splice_Site	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:160167358G>C	ENST00000368078.3	+	7	978		c.e7-1		CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Splice_Site			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)						endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTCTTCTAGATCAACCCTG	0.572																																																	0													122.0	118.0	120.0					1																	160167358		2203	4300	6503	SO:0001630	splice_region_variant	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.783-1G>C	1.37:g.160167358G>C			B1AKZ2|B2R863|Q8TBW7	Splice_Site	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506234	0.64410	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2627	0.87075	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASQ1	158433982	1.000000	0.71417	0.964000	0.40570	0.751000	0.42716	7.153000	0.77428	2.369000	0.80426	0.655000	0.94253	.		0.572	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1		NM_001231	Intron
CDH8	1006	hgsc.bcm.edu;ucsc.edu	37	16	61935249	61935249	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:61935249C>T	ENST00000577390.1	-	3	1335	c.381G>A	c.(379-381)gaG>gaA	p.E127E	CDH8_ENST00000584337.1_Silent_p.E127E|CDH8_ENST00000299345.6_Silent_p.E127E|CDH8_ENST00000577730.1_Silent_p.E127E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGCCTTTTCCTCCCGGTCAA	0.398																																																	0													131.0	129.0	130.0					16																	61935249		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.381G>A	16.37:g.61935249C>T			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
CDH13	1012	hgsc.bcm.edu;ucsc.edu	37	16	83816959	83816959	+	Silent	SNP	C	C	A	rs532343859		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:83816959C>A	ENST00000566620.1	+	13	2306	c.2016C>A	c.(2014-2016)atC>atA	p.I672I	CDH13_ENST00000428848.3_Silent_p.I633I|CDH13_ENST00000268613.10_Silent_p.I719I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	672	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGACGAATATCACAGATCTCA	0.527																																																	0													99.0	96.0	97.0					16																	83816959		1972	4167	6139	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2016C>A	16.37:g.83816959C>A			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																				0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257	
CEACAM1	634	hgsc.bcm.edu;ucsc.edu	37	19	43023295	43023295	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr19:43023295T>A	ENST00000161559.6	-	5	1185	c.1051A>T	c.(1051-1053)Aat>Tat	p.N351Y	CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Missense_Mutation_p.N351Y|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000352591.5_Intron|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	351	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCAGTGTCATTTGTGGAGCAG	0.512																																																	0													201.0	176.0	185.0					19																	43023295		2203	4300	6503	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1051A>T	19.37:g.43023295T>A	ENSP00000161559:p.Asn351Tyr		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	t	15.29	2.790394	0.50102	.	.	ENSG00000079385	ENST00000161559;ENST00000446434;ENST00000378065;ENST00000403444;ENST00000377806	T;T	0.21932	1.98;1.98	4.83	-0.314	0.12750	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37785	0.1016	M	0.69248	2.105	0.09310	N	1	D;D;D;D	0.69078	0.989;0.969;0.997;0.995	P;P;P;D	0.68943	0.656;0.656;0.891;0.961	T	0.15809	-1.0424	9	0.51188	T	0.08	.	8.2172	0.31519	0.0:0.461:0.0:0.539	.	351;351;351;351	P13688-10;P13688-2;P13688-8;P13688	.;.;.;CEAM1_HUMAN	Y	351;378;311;351;351	ENSP00000161559:N351Y;ENSP00000384709:N351Y	ENSP00000161559:N351Y	N	-	1	0	CEACAM1	47715135	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.256000	0.08757	-0.035000	0.13691	0.460000	0.39030	AAT		0.512	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2		NM_001712	
CERKL	375298	hgsc.bcm.edu	37	2	182403925	182403925	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:182403925C>T	ENST00000339098.5	-	13	1509	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	CERKL_ENST00000410087.3_Missense_Mutation_p.G478S|CERKL_ENST00000409440.3_Missense_Mutation_p.G460S|CERKL_ENST00000374969.2_Missense_Mutation_p.G365S|CERKL_ENST00000374970.2_Missense_Mutation_p.G409S			Q49MI3	CERKL_HUMAN	ceramide kinase-like	504					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTATATCCACCAGTATTATTC	0.353																																																	0													119.0	116.0	117.0					2																	182403925		2203	4300	6503	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1510G>A	2.37:g.182403925C>T	ENSP00000341159:p.Gly504Ser		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500295	0.04291	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30182	2.25;2.56;1.56;2.52;1.54	5.23	-0.104	0.13605	.	1.238440	0.05128	N	0.492084	T	0.11580	0.0282	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B	0.22003	0.002;0.063;0.001;0.0;0.002	B;B;B;B;B	0.19946	0.002;0.027;0.002;0.003;0.002	T	0.27468	-1.0073	10	0.21014	T	0.42	.	8.6039	0.33762	0.0:0.2984:0.0:0.7016	.	460;365;409;478;504	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	S	478;460;365;504;409	ENSP00000386725:G478S;ENSP00000387080:G460S;ENSP00000364108:G365S;ENSP00000341159:G504S;ENSP00000364109:G409S	ENSP00000341159:G504S	G	-	1	0	CERKL	182112170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.389000	0.20751	-0.047000	0.13423	-0.311000	0.09066	GGT		0.353	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			
CHRFAM7A	89832	hgsc.bcm.edu	37	15	30665281	30665282	+	Frame_Shift_Del	DEL	CA	CA	-	rs200872014|rs201490160	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr15:30665281_30665282delCA	ENST00000299847.2	-	6	680_681	c.227_228delTG	c.(226-228)ctgfs	p.L76fs	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	76						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCAAACTTCAGTTTGCAGTG	0.505														1938	0.386981	0.0817	0.4409	5008	,	,		21827	0.6647		0.3777	False		,,,				2504	0.4847																0			GRCh37	CD025514	CHRFAM7A	D			,	570,2490		43,484,1003					,	2.1	1.0			64	2874,4020		317,2240,890	no	utr-5,frameshift	CHRFAM7A	NM_148911.1,NM_139320.1	,	360,2724,1893	A1A1,A1R,RR		41.6884,18.6275,34.5992	,	,		3444,6510				SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.227_228delTG	15.37:g.30665281_30665282delCA	ENSP00000299847:p.Leu76fs		A8KAB9	Frame_Shift_Del	DEL	ENST00000299847.2	37	CCDS32184.1																																																																																				0.505	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1		NM_148911	
CSMD2	114784	hgsc.bcm.edu	37	1	34191120	34191120	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:34191120T>C	ENST00000373381.4	-	17	2701	c.2525A>G	c.(2524-2526)aAc>aGc	p.N842S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	802	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTGTCATAGTTGACCTCGGT	0.507																																																	0													77.0	83.0	81.0					1																	34191120		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2525A>G	1.37:g.34191120T>C	ENSP00000362479:p.Asn842Ser		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	15.32	2.797458	0.50208	.	.	ENSG00000121904	ENST00000373381	T	0.17528	2.27	5.89	5.89	0.94794	CUB (5);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.25031	0.7	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.85130	0.997;0.971	T	0.03534	-1.1027	10	0.34782	T	0.22	.	15.497	0.75662	0.0:0.0:0.0:1.0	.	802;842	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	842	ENSP00000362479:N842S	ENSP00000241312:N802S	N	-	2	0	CSMD2	33963707	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	8.018000	0.88722	2.254000	0.74563	0.533000	0.62120	AAC		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896	
CUBN	8029	hgsc.bcm.edu;ucsc.edu	37	10	16873255	16873255	+	Silent	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr10:16873255G>T	ENST00000377833.4	-	65	10589	c.10524C>A	c.(10522-10524)ccC>ccA	p.P3508P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3508					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTACCAGAGGGTGATGAAG	0.363																																																	0													101.0	93.0	96.0					10																	16873255		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10524C>A	10.37:g.16873255G>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
CYP4F11	57834	hgsc.bcm.edu	37	19	16024651	16024651	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr19:16024651A>C	ENST00000402119.4	-	12	1892	c.1466T>G	c.(1465-1467)tTc>tGc	p.F489C	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Missense_Mutation_p.F164C|CYP4F11_ENST00000248041.8_Missense_Mutation_p.F489C	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAGGATGCGGAAGTGCAGCAG	0.627																																																	0													69.0	61.0	63.0					19																	16024651		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1466T>G	19.37:g.16024651A>C	ENSP00000384588:p.Phe489Cys			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.137461	0.37728	.	.	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.85339	-1.97;-1.97	2.74	2.74	0.32292	.	0.000000	0.64402	U	0.000001	D	0.92202	0.7527	M	0.90425	3.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92074	0.5667	10	0.87932	D	0	.	8.919	0.35599	1.0:0.0:0.0:0.0	.	489	Q9HBI6	CP4FB_HUMAN	C	489	ENSP00000384588:F489C;ENSP00000248041:F489C	ENSP00000248041:F489C	F	-	2	0	CYP4F11	15885651	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	7.950000	0.87804	1.240000	0.43803	0.379000	0.24179	TTC		0.627	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2		NM_021187	
DLEC1	9940	hgsc.bcm.edu;ucsc.edu	37	3	38158548	38158548	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr3:38158548A>G	ENST00000308059.6	+	30	4283	c.4262A>G	c.(4261-4263)gAg>gGg	p.E1421G	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1424G|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1421G					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACAAGGTGGAGTGTACTGGC	0.612																																																	0													103.0	104.0	104.0					3																	38158548		2064	4220	6284	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4262A>G	3.37:g.38158548A>G	ENSP00000308597:p.Glu1421Gly			Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.374	-0.343699	0.05243	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05717	3.42;3.4;3.64	4.61	-5.0	0.03001	.	0.997243	0.08117	N	0.995243	T	0.04048	0.0113	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.12630	0.006;0.002;0.006;0.006	B;B;B;B	0.16722	0.006;0.002;0.016;0.006	T	0.47315	-0.9127	10	0.23302	T	0.38	-9.1301	2.7177	0.05192	0.3833:0.3506:0.1651:0.1009	.	1424;1421;1421;1421	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	G	1421;1421;1424	ENSP00000308597:E1421G;ENSP00000315914:E1421G;ENSP00000410427:E1424G	ENSP00000308597:E1421G	E	+	2	0	DLEC1	38133552	0.001000	0.12720	0.032000	0.17829	0.011000	0.07611	-0.134000	0.10436	-0.279000	0.09167	-0.379000	0.06801	GAG		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337	
DNAH14	127602	hgsc.bcm.edu	37	1	225380562	225380565	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs191528375|rs144339803	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:225380562_225380565delAAAG	ENST00000445597.2	+	25	4554_4557	c.4554_4557delAAAG	c.(4552-4557)acaaagfs	p.TK1518fs	DNAH14_ENST00000430092.1_Frame_Shift_Del_p.TK1923fs|DNAH14_ENST00000439375.2_Frame_Shift_Del_p.TK1923fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1518					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CAAAGAACACAAAGAAAGACATTG	0.289														98	0.0195687	0.0038	0.0231	5008	,	,		16043	0.0		0.0636	False		,,,				2504	0.0133																0										26,1986		3,20,983						3.0	0.0		dbSNP_134	171	216,3860		17,182,1839	no	frameshift	DNAH14	NM_001373.1		20,202,2822	A1A1,A1R,RR		5.2993,1.2922,3.975				242,5846				SO:0001589	frameshift_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.4554_4557delAAAG	1.37:g.225380566_225380569delAAAG	ENSP00000409472:p.Thr1518fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	ENST00000445597.2	37																																																																																					0.289	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3		XM_059166	
DSC2	1824	hgsc.bcm.edu	37	18	28647999	28648000	+	Frame_Shift_Ins	INS	-	-	TC	rs200056085	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr18:28647999_28648000insTC	ENST00000280904.6	-	16	3130_3131	c.2687_2688insGA	c.(2686-2688)gaafs	p.E896fs	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	896					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATGCATGCTTCTGCTAGTGT	0.386														18	0.00359425	0.0	0.0086	5008	,	,		14699	0.0		0.0099	False		,,,				2504	0.002																0			GRCh37	CI065824	DSC2	I			,	9,4255		0,9,2123					,	5.9	0.9			73	111,8143		0,111,4016	no	frameshift,utr-3	DSC2	NM_024422.3,NM_004949.3	,	0,120,6139	A1A1,A1R,RR		1.3448,0.2111,0.9586	,	,		120,12398				SO:0001589	frameshift_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2686_2687dupGA	18.37:g.28648000_28648001dupTC	ENSP00000280904:p.Glu896fs			Frame_Shift_Ins	INS	ENST00000280904.6	37	CCDS11892.1																																																																																				0.386	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1		NM_004949	
EYS	346007	hgsc.bcm.edu;ucsc.edu	37	6	64791859	64791859	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr6:64791859G>T	ENST00000370621.3	-	32	6987	c.6461C>A	c.(6460-6462)tCc>tAc	p.S2154Y	EYS_ENST00000503581.1_Missense_Mutation_p.S2154Y|EYS_ENST00000370616.2_Missense_Mutation_p.S2154Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2154	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCTAAATAGGAATTCCCATT	0.308																																																	0													71.0	62.0	65.0					6																	64791859		692	1586	2278	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6461C>A	6.37:g.64791859G>T	ENSP00000359655:p.Ser2154Tyr		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	16.15	3.040836	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.74315	-0.83;-0.83;-0.83	5.66	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.70684	0.3252	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.928	T	0.72204	-0.4361	9	0.62326	D	0.03	.	8.8983	0.35479	0.2223:0.0:0.7777:0.0	.	2154;2154	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	Y	2154	ENSP00000424243:S2154Y;ENSP00000359655:S2154Y;ENSP00000359650:S2154Y	ENSP00000359650:S2154Y	S	-	2	0	EYS	64849818	1.000000	0.71417	0.491000	0.27477	0.970000	0.65996	3.548000	0.53670	0.340000	0.23745	0.655000	0.94253	TCC		0.308	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
NUTM2F	54754	hgsc.bcm.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129																1	Deletion - In frame(1)	central_nervous_system(1)								2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2		NM_017561	
FBXL13	222235	hgsc.bcm.edu;ucsc.edu	37	7	102518015	102518015	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:102518015A>C	ENST00000313221.4	-	16	1960	c.1534T>G	c.(1534-1536)Tta>Gta	p.L512V	FBXL13_ENST00000436908.1_Missense_Mutation_p.L512V|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.L512V|FBXL13_ENST00000455112.2_Missense_Mutation_p.L512V|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.L512V|FBXL13_ENST00000379308.3_Missense_Mutation_p.L512V	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	512										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAATTTCGTAAACTCAAGTAG	0.318																																																	0													75.0	79.0	78.0					7																	102518015		2203	4291	6494	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1534T>G	7.37:g.102518015A>C	ENSP00000321927:p.Leu512Val		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065424	0.55432	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.74526	-0.7;-0.77;-0.7;-0.85;-0.85;-0.77	5.67	1.96	0.26148	.	0.000000	0.64402	D	0.000016	T	0.82208	0.4987	M	0.74546	2.27	0.80722	D	1	D;D;P	0.89917	0.984;1.0;0.897	P;D;P	0.85130	0.894;0.997;0.622	T	0.79718	-0.1686	10	0.54805	T	0.06	.	7.3141	0.26491	0.6134:0.0:0.3866:0.0	.	512;512;512	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	V	512;512;233;512;512;512;512	ENSP00000377367:L512V;ENSP00000368610:L512V;ENSP00000368607:L512V;ENSP00000388608:L512V;ENSP00000321927:L512V;ENSP00000391550:L512V	ENSP00000321927:L512V	L	-	1	2	FBXL13	102305251	1.000000	0.71417	0.991000	0.47740	0.624000	0.37722	1.230000	0.32612	0.484000	0.27630	0.528000	0.53228	TTA		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		NM_145032	
FBXO11	80204	hgsc.bcm.edu	37	2	48040362	48040364	+	Intron	DEL	AAC	AAC	-	rs539613927		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:48040362_48040364delAAC	ENST00000403359.3	-	18	2300				FBXO11_ENST00000316377.4_Intron|FBXO11_ENST00000434523.2_Intron|FBXO11_ENST00000402508.1_Intron	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11						cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGCAAAATTAACAACAATACCT	0.325			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)							,	22,4244		9,4,2120					,	3.8	1.0			132	39,8215		19,1,4107	no	intron,intron	FBXO11	NM_025133.4,NM_001190274.1	,	28,5,6227	A1A1,A1R,RR		0.4725,0.5157,0.4872	,	,		61,12459				SO:0001627	intron_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2227+8GTT>-	2.37:g.48040365_48040367delAAC			A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	In_Frame_Del	DEL	ENST00000403359.3	37	CCDS54357.1																																																																																				0.325	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133	
FGL2	10875	hgsc.bcm.edu	37	7	76828961	76828961	+	Silent	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:76828961T>C	ENST00000248598.5	-	1	182	c.150A>G	c.(148-150)gaA>gaG	p.E50E	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	50						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCCCTGCCTCTTCGCATTTCC	0.488																																																	0													121.0	117.0	118.0					7																	76828961		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.150A>G	7.37:g.76828961T>C				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.488	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1		NM_006682	
FN1	2335	hgsc.bcm.edu;ucsc.edu	37	2	216295547	216295547	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:216295547C>T	ENST00000359671.1	-	5	841	c.576G>A	c.(574-576)ggG>ggA	p.G192G	FN1_ENST00000336916.4_Silent_p.G192G|FN1_ENST00000323926.6_Silent_p.G192G|FN1_ENST00000432072.2_Silent_p.G192G|FN1_ENST00000346544.3_Silent_p.G192G|FN1_ENST00000426059.1_Silent_p.G192G|FN1_ENST00000357009.2_Silent_p.G192G|FN1_ENST00000446046.1_Silent_p.G192G|FN1_ENST00000421182.1_Silent_p.G192G|FN1_ENST00000345488.5_Silent_p.G192G|FN1_ENST00000357867.4_Silent_p.G192G|FN1_ENST00000443816.1_Silent_p.G192G|FN1_ENST00000354785.4_Silent_p.G192G|FN1_ENST00000356005.4_Silent_p.G192G			P02751	FINC_HUMAN	fibronectin 1	192	Fibrin- and heparin-binding 1.|Fibronectin type-I 4. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CATAGGAAGTCCCAGCAGCAT	0.453																																																	0													65.0	62.0	63.0					2																	216295547		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.576G>A	2.37:g.216295547C>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476	
FRMD6	122786	hgsc.bcm.edu	37	14	52174837	52174837	+	Silent	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr14:52174837T>A	ENST00000344768.5	+	7	796	c.600T>A	c.(598-600)atT>atA	p.I200I	FRMD6_ENST00000554167.1_Silent_p.I123I|FRMD6_ENST00000395718.2_Silent_p.I192I|FRMD6_ENST00000356218.4_Silent_p.I192I			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAAGCACATTCCAAACATGC	0.448																																																	0													123.0	104.0	110.0					14																	52174837		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.600T>A	14.37:g.52174837T>A			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																				0.448	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1		NM_152330	
GABRA3	2556	hgsc.bcm.edu;ucsc.edu	37	X	151336969	151336969	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chrX:151336969G>C	ENST00000370314.4	-	10	1448	c.1210C>G	c.(1210-1212)Ccc>Gcc	p.P404A	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.P404A	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	404					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGTTGATGGGATAGGTGGTC	0.547																																					NSCLC(142;2578 2613 10251 16743)												0													294.0	238.0	257.0					X																	151336969		2203	4300	6503	SO:0001583	missense	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1210C>G	X.37:g.151336969G>C	ENSP00000359337:p.Pro404Ala		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219442	0.22373	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.81499	-1.5;-1.5;-1.5	4.71	3.78	0.43462	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.331462	0.27906	N	0.017365	T	0.55226	0.1907	N	0.04746	-0.17	0.35719	D	0.817018	B	0.02656	0.0	B	0.01281	0.0	T	0.54735	-0.8249	10	0.12430	T	0.62	.	6.0565	0.19815	0.0:0.2707:0.5446:0.1847	.	404	P34903	GBRA3_HUMAN	A	404	ENSP00000359337:P404A;ENSP00000359334:P404A;ENSP00000443527:P404A	ENSP00000359334:P404A	P	-	1	0	GABRA3	151087625	0.994000	0.37717	0.999000	0.59377	0.972000	0.66771	1.720000	0.38022	2.069000	0.61940	0.597000	0.82753	CCC		0.547	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1		NM_000808	
GDF10	2662	hgsc.bcm.edu;ucsc.edu	37	10	48428675	48428675	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr10:48428675T>C	ENST00000224605.2	-	2	1476	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	404					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCCGCGCAGTAGTAGGCATC	0.532																																																	0													86.0	85.0	85.0					10																	48428675		2203	4300	6503	SO:0001583	missense	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1211A>G	10.37:g.48428675T>C	ENSP00000224605:p.Tyr404Cys		Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088179	0.76642	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	D	0.87334	-2.24	5.43	5.43	0.79202	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97365	0.9972	10	0.87932	D	0	.	14.9572	0.71124	0.0:0.0:0.0:1.0	.	214;404	Q8N6T2;P55107	.;BMP3B_HUMAN	C	214;404	ENSP00000224605:Y404C	ENSP00000224605:Y404C	Y	-	2	0	GDF10	48048681	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.907000	0.87430	2.198000	0.70561	0.533000	0.62120	TAC		0.532	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1		NM_004962	
GREB1	9687	hgsc.bcm.edu	37	2	11702633	11702633	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:11702633G>A	ENST00000381486.2	+	3	502	c.202G>A	c.(202-204)Gga>Aga	p.G68R	RNU2-13P_ENST00000515909.1_RNA|GREB1_ENST00000234142.5_Missense_Mutation_p.G68R|GREB1_ENST00000381483.2_Missense_Mutation_p.G68R|RNA5SP85_ENST00000365378.1_RNA|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.G68R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	68						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAGGGAGAAGGAGGGCTGGA	0.577																																					Ovarian(39;850 945 2785 23371 33093)												0													147.0	124.0	132.0					2																	11702633		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.202G>A	2.37:g.11702633G>A	ENSP00000370896:p.Gly68Arg		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109085	0.77096	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17054	3.3;2.3;2.3;3.3	5.36	4.48	0.54585	.	0.269693	0.35708	N	0.003025	T	0.24044	0.0582	L	0.43152	1.355	0.42331	D	0.99229	P;P;P	0.49783	0.867;0.928;0.773	P;P;B	0.50537	0.643;0.626;0.232	T	0.01553	-1.1326	10	0.62326	D	0.03	-34.1067	13.6759	0.62454	0.0754:0.0:0.9246:0.0	.	68;68;68	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	R	68	ENSP00000370896:G68R;ENSP00000263834:G68R;ENSP00000370892:G68R;ENSP00000234142:G68R	ENSP00000234142:G68R	G	+	1	0	GREB1	11620084	1.000000	0.71417	0.542000	0.28115	0.984000	0.73092	6.516000	0.73755	1.272000	0.44329	0.555000	0.69702	GGA		0.577	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
GRIN2A	2903	hgsc.bcm.edu;ucsc.edu	37	16	9916232	9916232	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:9916232G>A	ENST00000396573.2	-	11	2366	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P529L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P686L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P686L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P686L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P686L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	686					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTCCATTAGGCACTGTCCC	0.448																																																	0													133.0	113.0	120.0					16																	9916232		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2057C>T	16.37:g.9916232G>A	ENSP00000379818:p.Pro686Leu		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233149	0.95207	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.995;1.0	T	0.07829	-1.0752	9	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	529;686;686	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	686;686;529;686;686	ENSP00000379818:P686L;ENSP00000385872:P686L;ENSP00000441572:P529L;ENSP00000332549:P686L;ENSP00000379820:P686L	.	P	-	2	0	GRIN2A	9823733	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	9.695000	0.98691	2.655000	0.90218	0.655000	0.94253	CCT		0.448	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			
HEATR5B	54497	hgsc.bcm.edu	37	2	37283587	37283587	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:37283587G>A	ENST00000233099.5	-	16	2490	c.2395C>T	c.(2395-2397)Cac>Tac	p.H799Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H799Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	799						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACTAACCGGTGTTTATAAGAA	0.383																																																	0													58.0	63.0	61.0					2																	37283587		2201	4300	6501	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2395C>T	2.37:g.37283587G>A	ENSP00000233099:p.His799Tyr		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762925	0.69763	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.06933	3.24;3.24	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	M	0.66506	2.035	0.80722	D	1	B	0.17268	0.021	B	0.26770	0.073	T	0.17077	-1.0381	10	0.02654	T	1	.	19.0585	0.93076	0.0:0.0:1.0:0.0	.	799	Q9P2D3	HTR5B_HUMAN	Y	799	ENSP00000233099:H799Y;ENSP00000346531:H799Y	ENSP00000233099:H799Y	H	-	1	0	HEATR5B	37137091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.812000	0.99227	2.512000	0.84698	0.591000	0.81541	CAC		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024	
IFNB1	3456	hgsc.bcm.edu;ucsc.edu	37	9	21077494	21077494	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:21077494T>A	ENST00000380232.2	-	1	449	c.375A>T	c.(373-375)gaA>gaT	p.E125D		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	125					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TCTCCAGTTTTTCTTCCAGGA	0.433																																																	0													185.0	189.0	188.0					9																	21077494		2203	4300	6503	SO:0001583	missense	3456				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.375A>T	9.37:g.21077494T>A	ENSP00000369581:p.Glu125Asp		Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.778066	0.31502	.	.	ENSG00000171855	ENST00000380232	T	0.03772	3.81	5.32	-1.15	0.09709	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580602	0.19295	N	0.117798	T	0.04634	0.0126	L	0.49126	1.545	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.32214	-0.9915	10	0.87932	D	0	-0.0756	5.0656	0.14580	0.0:0.2351:0.2727:0.4922	.	125	P01574	IFNB_HUMAN	D	125	ENSP00000369581:E125D	ENSP00000369581:E125D	E	-	3	2	IFNB1	21067494	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.068000	0.14531	0.139000	0.18822	0.528000	0.53228	GAA		0.433	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1		NM_002176	
KDM5A	5927	hgsc.bcm.edu;ucsc.edu	37	12	416170	416170	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:416170T>A	ENST00000399788.2	-	24	4378	c.4016A>T	c.(4015-4017)gAt>gTt	p.D1339V	KDM5A_ENST00000382815.4_Missense_Mutation_p.D1339V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1339					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTCTTCATCATCATAGTCCAT	0.428			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													292.0	267.0	275.0					12																	416170		2006	4190	6196	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4016A>T	12.37:g.416170T>A	ENSP00000382688:p.Asp1339Val		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282757	0.80692	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.86297	-2.1;-1.96	5.78	5.78	0.91487	.	0.300695	0.36134	N	0.002780	D	0.89382	0.6699	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.90050	0.4148	10	0.49607	T	0.09	-20.3321	16.1103	0.81259	0.0:0.0:0.0:1.0	.	1339;1339	P29375;P29375-2	KDM5A_HUMAN;.	V	1339	ENSP00000382688:D1339V;ENSP00000372265:D1339V	ENSP00000372265:D1339V	D	-	2	0	KDM5A	286431	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.450000	0.80656	2.207000	0.71202	0.482000	0.46254	GAT		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056	
LMOD3	56203	hgsc.bcm.edu	37	3	69171497	69171499	+	In_Frame_Del	DEL	AGA	AGA	-	rs139192915|rs398105991	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr3:69171497_69171499delAGA	ENST00000420581.2	-	1	218_220	c.39_41delTCT	c.(37-42)cttctc>ctc	p.13_14LL>L	LMOD3_ENST00000489031.1_In_Frame_Del_p.13_14LL>L|LMOD3_ENST00000475434.1_In_Frame_Del_p.13_14LL>L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	13						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L14delL(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCCTCATCGAGAAGTTCTTCTT	0.36														58	0.0115815	0.0	0.0115	5008	,	,		17202	0.001		0.0298	False		,,,				2504	0.0194																2	Deletion - In frame(2)	kidney(2)								14,3540		1,12,1764						-0.2	0.0		dbSNP_134	42	225,7605		5,215,3695	no	coding	LMOD3	NM_198271.3		6,227,5459	A1A1,A1R,RR		2.8736,0.3939,2.0994				239,11145				SO:0001651	inframe_deletion	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.39_41delTCT	3.37:g.69171497_69171499delAGA	ENSP00000414670:p.Leu14del		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	In_Frame_Del	DEL	ENST00000420581.2	37	CCDS46862.1																																																																																				0.360	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		XM_067529	
LMX1A	4009	hgsc.bcm.edu	37	1	165183037	165183037	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:165183037A>C	ENST00000342310.3	-	5	892	c.510T>G	c.(508-510)gaT>gaG	p.D170E	LMX1A_ENST00000294816.2_Missense_Mutation_p.D170E|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.D170E|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	170					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTTTCTTCATCATCACTTT	0.493																																																	0													144.0	134.0	137.0					1																	165183037		2203	4300	6503	SO:0001583	missense	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.510T>G	1.37:g.165183037A>C	ENSP00000340226:p.Asp170Glu		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038581	0.75617	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.87334	-2.24;-2.24;-2.24	5.65	5.65	0.86999	.	0.109197	0.64402	D	0.000003	T	0.75686	0.3883	L	0.52011	1.625	0.47547	D	0.999450	B	0.19200	0.034	B	0.21917	0.037	T	0.72184	-0.4367	9	0.16420	T	0.52	.	15.5389	0.76024	1.0:0.0:0.0:0.0	.	170	Q8TE12	LMX1A_HUMAN	E	170	ENSP00000340226:D170E;ENSP00000294816:D170E;ENSP00000356868:D170E	ENSP00000294816:D170E	D	-	3	2	LMX1A	163449661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.937000	0.56575	2.135000	0.66039	0.533000	0.62120	GAT		0.493	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2		NM_177398	
MUC5B	727897	hgsc.bcm.edu	37	11	1271219	1271221	+	In_Frame_Del	DEL	CCA	CCA	-	rs61430934|rs199629887	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:1271219_1271221delCCA	ENST00000529681.1	+	31	13167_13169	c.13109_13111delCCA	c.(13108-13113)gccacc>gcc	p.T4373del	MUC5B_ENST00000447027.1_In_Frame_Del_p.T4376del|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4373	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGAAGGCCACCACGACAAG	0.635														328	0.0654952	0.0242	0.1095	5008	,	,		19711	0.0496		0.0805	False		,,,				2504	0.091																0										85,4011		5,75,1968						-0.1	0.0		dbSNP_129	110	576,7474		25,526,3474	no	coding	MUC5B	NM_002458.2		30,601,5442	A1A1,A1R,RR		7.1553,2.0752,5.4421				661,11485				SO:0001651	inframe_deletion	4586			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13109_13111delCCA	11.37:g.1271222_1271224delCCA	ENSP00000436812:p.Thr4373del		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.635	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093	
MPZL3	196264	hgsc.bcm.edu;ucsc.edu	37	11	118106270	118106270	+	Silent	SNP	A	A	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:118106270A>G	ENST00000278949.4	-	4	541	c.486T>C	c.(484-486)ctT>ctC	p.L162L	MPZL3_ENST00000527472.1_Silent_p.L150L|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	162					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAGGATGGAAAGAAGGGCCA	0.542																																																	0													116.0	102.0	107.0					11																	118106270		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.486T>C	11.37:g.118106270A>G			A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.542	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1		NM_198275	
NBEAL1	65065	hgsc.bcm.edu	37	2	204039911	204039911	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:204039911T>A	ENST00000449802.1	+	41	6611	c.6278T>A	c.(6277-6279)tTt>tAt	p.F2093Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2093	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTGATAAGTTTCACTATGGT	0.398																																																	0													96.0	95.0	95.0					2																	204039911		1825	4072	5897	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6278T>A	2.37:g.204039911T>A	ENSP00000399903:p.Phe2093Tyr		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	34	5.373890	0.95923	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80393	-1.37;-1.37	5.92	5.92	0.95590	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87529	0.2451	10	0.42905	T	0.14	.	16.0292	0.80564	0.0:0.0:0.0:1.0	.	2093;2082	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Y	2093;2093;108	ENSP00000399903:F2093Y;ENSP00000388466:F108Y	ENSP00000344985:F2093Y	F	+	2	0	NBEAL1	203748156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.528000	0.53228	TTT		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			
NMUR2	56923	hgsc.bcm.edu	37	5	151784357	151784357	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:151784357C>T	ENST00000255262.3	-	1	483	c.318G>A	c.(316-318)atG>atA	p.M106I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	106					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGTTGCGCCACATCTCATAGA	0.587																																																	0													92.0	96.0	95.0					5																	151784357		2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.318G>A	5.37:g.151784357C>T	ENSP00000255262:p.Met106Ile		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908581	0.72868	.	.	ENSG00000132911	ENST00000255262	T	0.35236	1.32	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.054186	0.85682	D	0.000000	T	0.35856	0.0946	L	0.38531	1.155	0.58432	D	0.999995	P	0.38617	0.64	B	0.40602	0.334	T	0.08086	-1.0739	10	0.42905	T	0.14	-25.3022	18.4906	0.90846	0.0:1.0:0.0:0.0	.	106	Q9GZQ4	NMUR2_HUMAN	I	106	ENSP00000255262:M106I	ENSP00000255262:M106I	M	-	3	0	NMUR2	151764550	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.637000	0.61346	2.607000	0.88179	0.655000	0.94253	ATG		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1		NM_020167	
NPY	4852	hgsc.bcm.edu;ucsc.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:24329150T>C	ENST00000407573.1	+	4	511	c.221T>C	c.(220-222)aTt>aCt	p.I74T	NPY_ENST00000405982.1_Missense_Mutation_p.I74T|NPY_ENST00000242152.2_Missense_Mutation_p.I74T			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418																																																	0													123.0	115.0	118.0					7																	24329150		2203	4300	6503	SO:0001583	missense	4852			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>C	7.37:g.24329150T>C	ENSP00000384364:p.Ile74Thr			Missense_Mutation	SNP	ENST00000407573.1	37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065128	0.55432	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13196	2.61;2.61;2.61	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.14614	0.0353	.	.	.	0.52099	D	0.999946	B	0.20780	0.048	B	0.12837	0.008	T	0.01899	-1.1251	9	0.54805	T	0.06	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	T	74	ENSP00000242152:I74T;ENSP00000384364:I74T;ENSP00000385282:I74T	ENSP00000242152:I74T	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT		0.418	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1		NM_000905	
OR10AG1	282770	hgsc.bcm.edu;ucsc.edu	37	11	55735474	55735474	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:55735474G>A	ENST00000312345.2	-	1	516	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGCAAAAGGAAAATTTGG	0.393																																																	0													82.0	80.0	81.0					11																	55735474		2201	4296	6497	SO:0001583	missense	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.466C>T	11.37:g.55735474G>A	ENSP00000311477:p.Leu156Phe		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817815	0.32145	.	.	ENSG00000174970	ENST00000312345	T	0.00107	8.72	5.47	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.231776	0.31134	N	0.008193	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.25667	0.131	B	0.20955	0.032	T	0.18999	-1.0319	10	0.44086	T	0.13	.	3.2633	0.06856	0.5753:0.0:0.1742:0.2505	.	156	Q8NH19	O10AG_HUMAN	F	156	ENSP00000311477:L156F	ENSP00000311477:L156F	L	-	1	0	OR10AG1	55492050	0.000000	0.05858	0.995000	0.50966	0.799000	0.45148	-1.270000	0.02831	0.957000	0.37930	-0.499000	0.04595	CTT		0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1		NM_001005491	
PNPLA7	375775	hgsc.bcm.edu	37	9	140416146	140416146	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:140416146C>A	ENST00000277531.4	-	9	1010	c.824G>T	c.(823-825)aGg>aTg	p.R275M	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R300M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	275					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAAGGTCACCCTCTGCAGCCG	0.617																																																	0													143.0	115.0	125.0					9																	140416146		2203	4300	6503	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.824G>T	9.37:g.140416146C>A	ENSP00000277531:p.Arg275Met		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743515	0.69418	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.46063	0.9;0.88;0.88;0.88	4.75	4.75	0.60458	Cyclic nucleotide-binding-like (1);	0.118718	0.64402	D	0.000010	T	0.67163	0.2864	M	0.83953	2.67	0.29384	N	0.863076	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.68345	-0.5433	10	0.87932	D	0	-29.9852	15.2427	0.73482	0.0:1.0:0.0:0.0	.	6;300;275	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	M	6;275;300;275;266;300	ENSP00000360501:R6M;ENSP00000277531:R275M;ENSP00000384610:R300M;ENSP00000400582:R266M	ENSP00000277531:R275M	R	-	2	0	PNPLA7	139535967	1.000000	0.71417	0.993000	0.49108	0.373000	0.29922	7.078000	0.76821	2.176000	0.68965	0.313000	0.20887	AGG		0.617	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121651295	121651295	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:121651295C>A	ENST00000393386.2	+	12	2606	c.2195C>A	c.(2194-2196)tCc>tAc	p.S732Y	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S732Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	732					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCCCATCCTCCAGACAACAG	0.478																																																	0													131.0	121.0	125.0					7																	121651295		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2195C>A	7.37:g.121651295C>A	ENSP00000377047:p.Ser732Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345217	0.24426	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;D	0.83914	0.17;-1.78	5.87	4.99	0.66335	.	0.248463	0.35970	N	0.002867	T	0.81029	0.4738	M	0.69823	2.125	0.37529	D	0.917831	B;B;B	0.15930	0.001;0.0;0.015	B;B;B	0.15052	0.002;0.001;0.012	T	0.80365	-0.1413	10	0.72032	D	0.01	.	9.8827	0.41242	0.1399:0.791:0.0:0.069	.	732;732;732	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Y	732	ENSP00000377047:S732Y;ENSP00000410000:S732Y	ENSP00000377047:S732Y	S	+	2	0	PTPRZ1	121438531	0.981000	0.34729	0.806000	0.32338	0.963000	0.63663	2.418000	0.44662	1.477000	0.48234	0.655000	0.94253	TCC		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
RIN1	9610	hgsc.bcm.edu	37	11	66100155	66100155	+	Silent	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:66100155T>C	ENST00000311320.4	-	10	2070	c.1944A>G	c.(1942-1944)ccA>ccG	p.P648P	RIN1_ENST00000424433.2_Silent_p.P543P|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000530056.1_Silent_p.P482P	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	648	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCGAGGCTTCTGGGGGCACGG	0.582																																																	0													84.0	91.0	89.0					11																	66100155		2199	4294	6493	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1944A>G	11.37:g.66100155T>C			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.582	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2		NM_004292	
SCRN3	79634	hgsc.bcm.edu	37	2	175292581	175292593	+	Frame_Shift_Del	DEL	TCAAATTTATCAG	TCAAATTTATCAG	-	rs145699077|rs79038555	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	TCAAATTTATCAG	TCAAATTTATCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:175292581_175292593delTCAAATTTATCAG	ENST00000272732.6	+	8	1315_1327	c.1233_1245delTCAAATTTATCAG	c.(1231-1245)attcaaatttatcagfs	p.IQIYQ411fs	SCRN3_ENST00000409673.3_Frame_Shift_Del_p.IQIYQ404fs|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	411							dipeptidase activity (GO:0016805)	p.I406V(1)|p.I413V(1)|p.N417fs*>4(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAGATGAAATTCAAATTTATCAGTCAAATTTAT	0.319														1062	0.212061	0.0832	0.1931	5008	,	,		19634	0.2113		0.3817	False		,,,				2504	0.226																3	Substitution - Missense(2)|Deletion - Frameshift(1)	endometrium(2)|urinary_tract(1)							,	515,3749		33,449,1650					,	5.6	1.0		dbSNP_134	72	2708,5524		474,1760,1882	no	frameshift,frameshift	SCRN3	NM_024583.4,NM_001193528.1	,	507,2209,3532	A1A1,A1R,RR		32.896,12.0779,25.7923	,	,		3223,9273				SO:0001589	frameshift_variant	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1233_1245delTCAAATTTATCAG	2.37:g.175292581_175292593delTCAAATTTATCAG	ENSP00000272732:p.Ile411fs		B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Frame_Shift_Del	DEL	ENST00000272732.6	37	CCDS2258.1																																																																																				0.319	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2		NM_024583	
SHANK2	22941	hgsc.bcm.edu;ucsc.edu	37	11	70349010	70349010	+	Silent	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:70349010G>A	ENST00000423696.2	-	8	987	c.951C>T	c.(949-951)gtC>gtT	p.V317V	SHANK2_ENST00000449116.2_Silent_p.V108V|SHANK2_ENST00000357171.3_Silent_p.V108V|SHANK2_ENST00000338508.4_Silent_p.V697V|SHANK2_ENST00000409530.1_Silent_p.V107V|SHANK2_ENST00000449833.2_Silent_p.V108V|SHANK2_ENST00000409161.1_Silent_p.V107V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	317	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGTGGCCGACTTTGACAA	0.582																																																	0													154.0	135.0	142.0					11																	70349010		2200	4294	6494	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.951C>T	11.37:g.70349010G>A			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.222|9.222	1.033507|1.033507	0.19590|0.19590	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000426687	.|.	.|.	.|.	4.46|4.46	-5.23|-5.23	0.02798|0.02798	.|.	.|.	.|.	.|.	.|.	T|T	0.50599|0.50599	0.1625|0.1625	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51124|0.51124	-0.8745|-0.8745	4|4	.|.	.|.	.|.	.|.	8.8651|8.8651	0.35280|0.35280	0.4951:0.371:0.1339:0.0|0.4951:0.371:0.1339:0.0	.|.	.|.	.|.	.|.	W|L	107|106	.|.	.|.	R|S	-|-	1|2	2|0	SHANK2|SHANK2	70026658|70026658	0.373000|0.373000	0.25073|0.25073	0.952000|0.952000	0.39060|0.39060	0.839000|0.839000	0.47603|0.47603	-0.297000|-0.297000	0.08276|0.08276	-1.043000|-1.043000	0.03258|0.03258	-0.379000|-0.379000	0.06801|0.06801	CGG|TCG		0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309	
SLC8B1	80024	hgsc.bcm.edu	37	12	113737765	113737765	+	Silent	SNP	T	T	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:113737765T>G	ENST00000552014.1	-	17	2087	c.1572A>C	c.(1570-1572)ggA>ggC	p.G524G	SLC8B1_ENST00000549069.1_Silent_p.G83G|SLC8B1_ENST00000550047.1_Silent_p.G39G|SLC8B1_ENST00000202831.3_Silent_p.G524G|SLC8B1_ENST00000546737.1_Silent_p.G468G			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	524					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ACACCAGCAGTCCGTCTGGCT	0.627																																																	0													44.0	46.0	45.0					12																	113737765		2203	4300	6503	SO:0001819	synonymous_variant	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1572A>C	12.37:g.113737765T>G			A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	CCDS31909.1																																																																																				0.627	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959	
SLC27A6	28965	hgsc.bcm.edu;ucsc.edu	37	5	128368959	128368959	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:128368959G>C	ENST00000262462.4	+	10	2854	c.1844G>C	c.(1843-1845)gGg>gCg	p.G615A	SLC27A6_ENST00000395266.1_Missense_Mutation_p.G615A|SLC27A6_ENST00000506176.1_Missense_Mutation_p.G615A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	615					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATAATGTTAGGGGAAATAAAA	0.323																																																	0													37.0	39.0	39.0					5																	128368959		2203	4292	6495	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1844G>C	5.37:g.128368959G>C	ENSP00000262462:p.Gly615Ala		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.880084	0.33162	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.58506	0.33;0.33;0.33	4.17	0.382	0.16234	.	0.326061	0.32416	N	0.006133	T	0.55561	0.1928	M	0.76002	2.32	0.09310	N	1	P	0.40553	0.721	B	0.42827	0.399	T	0.50242	-0.8851	9	.	.	.	0.0	8.1866	0.31343	0.4292:0.0:0.5708:0.0	.	615	Q9Y2P4	S27A6_HUMAN	A	615	ENSP00000262462:G615A;ENSP00000378684:G615A;ENSP00000421024:G615A	.	G	+	2	0	SLC27A6	128396858	1.000000	0.71417	0.001000	0.08648	0.703000	0.40648	3.739000	0.55075	0.049000	0.15920	0.585000	0.79938	GGG		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031	
SMURF2	64750	hgsc.bcm.edu	37	17	62551963	62551963	+	Missense_Mutation	SNP	G	G	C	rs142348673		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr17:62551963G>C	ENST00000262435.9	-	14	1772	c.1585C>G	c.(1585-1587)Ctt>Gtt	p.L529V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	529	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.L529F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTGTTGTGAAGATCCGGATCT	0.338																																																	1	Substitution - Missense(1)	skin(1)											94.0	80.0	85.0					17																	62551963		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1585C>G	17.37:g.62551963G>C	ENSP00000262435:p.Leu529Val		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101165	0.37048	.	.	ENSG00000108854	ENST00000262435	T	0.59224	0.28	5.48	5.48	0.80851	HECT (4);	0.059671	0.64402	D	0.000003	T	0.76392	0.3981	M	0.71871	2.18	0.80722	D	1	D	0.60160	0.987	D	0.87578	0.998	T	0.75634	-0.3250	10	0.45353	T	0.12	.	19.346	0.94362	0.0:0.0:1.0:0.0	.	529	Q9HAU4	SMUF2_HUMAN	V	529	ENSP00000262435:L529V	ENSP00000262435:L529V	L	-	1	0	SMURF2	59982425	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.924000	0.87555	2.560000	0.86352	0.563000	0.77884	CTT		0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1		NM_022739	
ST7L	54879	hgsc.bcm.edu	37	1	113084576	113084576	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:113084576T>G	ENST00000358039.4	-	14	1930	c.1626A>C	c.(1624-1626)aaA>aaC	p.K542N	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.K542N|ST7L_ENST00000544629.1_Missense_Mutation_p.K477N|ST7L_ENST00000343210.7_Missense_Mutation_p.K542N|ST7L_ENST00000538187.1_Missense_Mutation_p.K486N|ST7L_ENST00000369669.1_Missense_Mutation_p.K359N|ST7L_ENST00000369666.1_Missense_Mutation_p.K525N|ST7L_ENST00000490067.1_Missense_Mutation_p.K525N|ST7L_ENST00000360743.4_Missense_Mutation_p.K511N	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	542					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTTACAGCTTTAGCAAAAA	0.393																																																	0													92.0	87.0	89.0					1																	113084576		2203	4300	6503	SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1626A>C	1.37:g.113084576T>G	ENSP00000350734:p.Lys542Asn		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.71|16.71	3.198317|3.198317	0.58126|0.58126	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187|ENST00000418497	T;T;T;T;T;T;T;T;T|T	0.23147|0.27256	1.92;2.31;1.92;1.92;1.92;1.92;1.92;1.92;1.92|1.68	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.154564|0.154564	0.64402|0.64402	D|D	0.000018|0.000018	T|T	0.33527|0.33527	0.0866|0.0866	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;B;D;D;P;P;B|.	0.89917|.	1.0;1.0;0.389;0.996;0.997;0.691;0.582;0.345|.	D;D;B;D;D;B;B;B|.	0.91635|.	0.999;0.998;0.198;0.944;0.962;0.317;0.251;0.236|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|8	0.48119|0.87932	T|D	0.1|0	-23.6545|-23.6545	10.5265|10.5265	0.44952|0.44952	0.0:0.0725:0.0:0.9275|0.0:0.0725:0.0:0.9275	.|.	486;477;477;542;525;525;511;542|.	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;.;ST7L_HUMAN|.	N|T	542;511;292;477;359;525;542;542;525;486|286	ENSP00000350734:K542N;ENSP00000353972:K511N;ENSP00000445499:K477N;ENSP00000358683:K359N;ENSP00000417140:K525N;ENSP00000358682:K542N;ENSP00000345312:K542N;ENSP00000358680:K525N;ENSP00000444021:K486N|ENSP00000413718:K286T	ENSP00000345312:K542N|ENSP00000413718:K286T	K|K	-|-	3|2	2|0	ST7L|ST7L	112886099|112886099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.905000|2.905000	0.48727|0.48727	2.299000|2.299000	0.77371|0.77371	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.393	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			
ST8SIA1	6489	hgsc.bcm.edu;ucsc.edu	37	12	22440140	22440140	+	Silent	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:22440140G>A	ENST00000396037.4	-	2	805	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.T2M	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	108					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AAAACTCCCCGTCATACCACA	0.413																																																	0													103.0	96.0	99.0					12																	22440140		2203	4300	6503	SO:0001819	synonymous_variant	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.324C>T	12.37:g.22440140G>A			A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597693	0.13875	.	.	ENSG00000111728	ENST00000539510	.	.	.	5.35	-5.83	0.02325	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.22601	N	0.998948	B	0.06786	0.001	B	0.09377	0.004	T	0.24835	-1.0149	6	.	.	.	-17.7696	14.4855	0.67614	0.3979:0.0:0.6021:0.0	.	2	G3V1U7	.	M	2	.	.	T	-	2	0	ST8SIA1	22331407	0.579000	0.26725	0.254000	0.24359	0.950000	0.60333	-0.150000	0.10189	-1.237000	0.02539	-0.946000	0.02672	ACG		0.413	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2		NM_003034	
SUCLG1	8802	hgsc.bcm.edu	37	2	84652567	84652567	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:84652567G>T	ENST00000393868.2	-	8	1196	c.986C>A	c.(985-987)cCt>cAt	p.P329H	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	329					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGCTGTGCAGGAGACATACT	0.537																																					Ovarian(48;203 1101 37206 40305 50790)												0													104.0	92.0	96.0					2																	84652567		2203	4300	6503	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.986C>A	2.37:g.84652567G>T	ENSP00000377446:p.Pro329His		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944634	0.92593	.	.	ENSG00000163541	ENST00000393868	D	0.85088	-1.94	5.79	5.79	0.91817	Succinyl-CoA synthetase-like (2);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97577	1.0108	10	0.72032	D	0.01	2.0501	17.5309	0.87814	0.0:0.0:1.0:0.0	.	329	P53597	SUCA_HUMAN	H	329	ENSP00000377446:P329H	ENSP00000377446:P329H	P	-	2	0	SUCLG1	84506078	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.869000	0.99810	2.734000	0.93682	0.655000	0.94253	CCT		0.537	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2		NM_003849	
TDRD3	81550	hgsc.bcm.edu	37	13	61102576	61102578	+	In_Frame_Del	DEL	ATA	ATA	-	rs148917045|rs75684327	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr13:61102576_61102578delATA	ENST00000196169.3	+	11	1726_1728	c.938_940delATA	c.(937-942)gataat>gat	p.N315del	TDRD3_ENST00000377894.2_In_Frame_Del_p.N315del|TDRD3_ENST00000377881.2_In_Frame_Del_p.N315del|TDRD3_ENST00000535286.1_In_Frame_Del_p.N408del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAGTAAAAGATAATAATCATCT	0.384														604	0.120607	0.0325	0.1153	5008	,	,		16312	0.0129		0.1889	False		,,,				2504	0.2843				Colon(36;164 906 35820 50723)												0									,,	224,4040		12,200,1920					,,	6.1	1.0		dbSNP_134	101	1585,6669		152,1281,2694	no	coding,coding,coding	TDRD3	NM_030794.2,NM_001146071.1,NM_001146070.1	,,	164,1481,4614	A1A1,A1R,RR		19.2028,5.2533,14.4512	,,	,,		1809,10709				SO:0001651	inframe_deletion	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.938_940delATA	13.37:g.61102579_61102581delATA	ENSP00000196169:p.Asn315del		B2MWP9|Q53XA6|Q6P992	In_Frame_Del	DEL	ENST00000196169.3	37	CCDS9441.1																																																																																				0.384	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2		NM_030794	
TICAM2	353376	hgsc.bcm.edu	37	5	114916661	114916662	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:114916661_114916662delTT	ENST00000427199.2	-	2	733_734	c.292_293delAA	c.(292-294)aatfs	p.N98fs	TICAM2_ENST00000513729.1_5'Flank|TMED7-TICAM2_ENST00000282382.4_Frame_Shift_Del_p.N267fs|TICAM2_ENST00000408996.4_Frame_Shift_Del_p.N267fs|TMED7-TICAM2_ENST00000333314.3_3'UTR	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	98	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TTGTAGCAGATTCTGGACTCTG	0.421																																																	0									,,	0,4264		0,0,2132					,,	-9.2	0.0			214	1,8253		0,1,4126	no	frameshift,utr-3,frameshift	TICAM2,TMED7-TICAM2	NM_021649.6,NM_001164469.2,NM_001164468.2	,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,	,,		1,12517				SO:0001589	frameshift_variant	353376			AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.292_293delAA	5.37:g.114916661_114916662delTT	ENSP00000415139:p.Asn98fs		B3Y698|Q6JUT2	Frame_Shift_Del	DEL	ENST00000427199.2	37	CCDS4119.1																																																																																				0.421	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1		NM_021649	
TTC33	23548	hgsc.bcm.edu	37	5	40716407	40716407	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:40716407T>A	ENST00000337702.4	-	5	781	c.629A>T	c.(628-630)gAg>gTg	p.E210V	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	210										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGCAACAATCTCATCACTTTC	0.403																																																	0													119.0	105.0	110.0					5																	40716407		2203	4300	6503	SO:0001583	missense	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.629A>T	5.37:g.40716407T>A	ENSP00000338533:p.Glu210Val		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389596	0.82902	.	.	ENSG00000113638	ENST00000337702	T	0.42131	0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62845	-0.6768	10	0.87932	D	0	-23.8489	15.6268	0.76867	0.0:0.0:0.0:1.0	.	210	Q6PID6	TTC33_HUMAN	V	210	ENSP00000338533:E210V	ENSP00000338533:E210V	E	-	2	0	TTC33	40752164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.470000	0.73558	2.097000	0.63578	0.528000	0.53228	GAG		0.403	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1		NM_012382	
UACA	55075	hgsc.bcm.edu	37	15	70963410	70963410	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr15:70963410T>C	ENST00000322954.6	-	15	1374	c.1189A>G	c.(1189-1191)Aaa>Gaa	p.K397E	UACA_ENST00000539319.1_Missense_Mutation_p.K288E|UACA_ENST00000379983.2_Missense_Mutation_p.K384E|UACA_ENST00000560441.1_Missense_Mutation_p.K382E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	397					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGACCTTGTTTAAGAAGCATA	0.254																																																	0													85.0	81.0	82.0					15																	70963410		2196	4278	6474	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1189A>G	15.37:g.70963410T>C	ENSP00000314556:p.Lys397Glu		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984074	0.74474	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.39787	1.06;1.08;1.41	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	T	0.48095	0.1481	M	0.69823	2.125	0.48762	D	0.999708	P;P;P;P	0.45768	0.853;0.701;0.866;0.694	P;B;P;B	0.46275	0.51;0.312;0.505;0.41	T	0.43032	-0.9416	10	0.16420	T	0.52	-26.8546	15.6028	0.76639	0.0:0.0:0.0:1.0	.	288;397;397;384	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	E	397;384;373;288	ENSP00000314556:K397E;ENSP00000369319:K384E;ENSP00000438667:K288E	ENSP00000314556:K397E	K	-	1	0	UACA	68750464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.618000	0.54188	2.330000	0.79161	0.477000	0.44152	AAA		0.254	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			
VPS13B	157680	hgsc.bcm.edu	37	8	100155297	100155297	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr8:100155297G>A	ENST00000358544.2	+	13	1858	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D583N|VPS13B_ENST00000395996.1_Missense_Mutation_p.D583N|VPS13B_ENST00000355155.1_Missense_Mutation_p.D583N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	583					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGTCCTCTTGATTTTCGTTT	0.393																																					Colon(161;2205 2542 7338 31318)												0													135.0	133.0	134.0					8																	100155297		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1747G>A	8.37:g.100155297G>A	ENSP00000351346:p.Asp583Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918852	0.17982	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.76839	-1.05;-0.35;-0.34;-0.05	5.43	4.55	0.56014	.	0.077680	0.53938	D	0.000057	T	0.59649	0.2209	N	0.17082	0.46	0.34596	D	0.715988	B;B;B;B;B	0.14805	0.002;0.011;0.007;0.002;0.002	B;B;B;B;B	0.13407	0.006;0.009;0.004;0.006;0.006	T	0.61787	-0.6991	10	0.28530	T	0.3	.	8.3209	0.32128	0.1787:0.0:0.8213:0.0	.	583;583;583;583;583	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	583	ENSP00000347281:D583N;ENSP00000349685:D583N;ENSP00000351346:D583N;ENSP00000379318:D583N	ENSP00000347281:D583N	D	+	1	0	VPS13B	100224473	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.282000	0.43461	2.531000	0.85337	0.591000	0.81541	GAT		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	
ZC3H7B	23264	hgsc.bcm.edu;ucsc.edu	37	22	41721776	41721776	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr22:41721776T>A	ENST00000352645.4	+	4	396	c.139T>A	c.(139-141)Ttc>Atc	p.F47I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.F47I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	47					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAATGATCTGTTCCGGGAGAA	0.602																																																	0													72.0	61.0	65.0					22																	41721776		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.139T>A	22.37:g.41721776T>A	ENSP00000345793:p.Phe47Ile		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987897	0.93106	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.62941	-0.01;-0.01	4.92	4.92	0.64577	Tetratricopeptide-like helical (1);	0.197922	0.46442	D	0.000285	T	0.81541	0.4844	M	0.88704	2.975	0.46654	D	0.999148	D;D	0.76494	0.999;0.975	D;P	0.72982	0.979;0.863	D	0.85665	0.1291	10	0.87932	D	0	-26.5151	14.5596	0.68126	0.0:0.0:0.0:1.0	.	47;47	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	I	47	ENSP00000345793:F47I;ENSP00000263243:F47I	ENSP00000263243:F47I	F	+	1	0	ZC3H7B	40051722	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	1.842000	0.53543	0.459000	0.35465	TTC		0.602	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1		NM_017590	
ZWILCH	55055	hgsc.bcm.edu	37	15	66824728	66824728	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr15:66824728C>T	ENST00000307897.5	+	13	1679	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ZWILCH_ENST00000446801.2_Silent_p.I319I|ZWILCH_ENST00000535141.2_Silent_p.I319I|ZWILCH_ENST00000565627.1_Silent_p.I319I	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	433					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						AAGATTATATCAGTTTTTTCA	0.348																																																	0													69.0	71.0	71.0					15																	66824728		2200	4298	6498	SO:0001819	synonymous_variant	55055			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.1299C>T	15.37:g.66824728C>T			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	CCDS10219.1																																																																																				0.348	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4		NM_017975	
