#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_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
CNNM1	26507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	ENST00000356713.4	+	5	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	692					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423																																																0													120.0	95.0	104.0					10																	101124220		2203	4300	6503	SO:0001583	missense	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2075A>G	10.37:g.101124220A>G	ENSP00000349147:p.Asn692Ser		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317190	0.23908	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.83075	-1.66;-1.68;-1.65;-0.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	N	0.11698	0.16	0.58432	D	0.999992	B;B;B;B	0.28026	0.111;0.198;0.006;0.005	B;B;B;B	0.33846	0.125;0.171;0.008;0.024	T	0.66689	-0.5860	10	0.06494	T	0.89	-17.9447	15.9362	0.79712	1.0:0.0:0.0:0.0	.	327;692;327;692	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	S	692;621;621;327;145	ENSP00000349147:N692S;ENSP00000406492:N621S;ENSP00000359559:N621S;ENSP00000359565:N327S	ENSP00000349147:N692S	N	+	2	0	CNNM1	101114210	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.015000	0.64035	2.170000	0.68504	0.379000	0.24179	AAT		0.423	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		9	17	9	17
ACACB	32	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	ENST00000338432.7	+	10	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_ENST00000377848.3_Missense_Mutation_p.L491V|ACACB_ENST00000377854.5_Missense_Mutation_p.L491V|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	491	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCCCATCTTTCTCATGAAGCT	0.562																																																0													55.0	45.0	48.0					12																	109616926		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1471C>G	12.37:g.109616926C>G	ENSP00000341044:p.Leu491Val		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176518	0.09443	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97041	-4.22;-4.22;-4.22	5.2	3.29	0.37713	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.311188	0.34460	N	0.003944	D	0.90981	0.7164	N	0.10707	0.03	0.80722	D	1	B	0.12013	0.005	B	0.17722	0.019	D	0.85936	0.1455	10	0.11485	T	0.65	.	15.5997	0.76613	0.0:0.564:0.436:0.0	.	491	O00763	ACACB_HUMAN	V	491	ENSP00000341044:L491V;ENSP00000367079:L491V;ENSP00000367085:L491V	ENSP00000341044:L491V	L	+	1	0	ACACB	108101309	0.979000	0.34478	0.974000	0.42286	0.914000	0.54420	2.092000	0.41700	1.168000	0.42723	0.643000	0.83706	CTC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		17	31	17	31
ACSF3	197322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	ENST00000317447.4	+	6	1402	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	342					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647																																																0													134.0	107.0	116.0					16																	89180794		2198	4300	6498	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1025A>G	16.37:g.89180794A>G	ENSP00000320646:p.Lys342Arg		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401645	0.25291	.	.	ENSG00000176715	ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.12	-3.0	0.05480	AMP-dependent synthetase/ligase (1);	0.252182	0.42548	N	0.000699	T	0.14657	0.0354	N	0.02736	-0.51	0.25457	N	0.987951	B	0.09022	0.002	B	0.15484	0.013	T	0.31613	-0.9937	10	0.07325	T	0.83	-22.6122	13.2446	0.60016	0.4409:0.0:0.5591:0.0	.	342	Q4G176	ACSF3_HUMAN	R	77;342;77;342;77;77	ENSP00000439201:K77R;ENSP00000320646:K342R;ENSP00000445397:K77R;ENSP00000384627:K342R;ENSP00000367596:K77R;ENSP00000442781:K77R	ENSP00000320646:K342R	K	+	2	0	ACSF3	87708295	1.000000	0.71417	0.957000	0.39632	0.454000	0.32378	1.070000	0.30653	-0.415000	0.07484	-0.379000	0.06801	AAG		0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		33	104	33	104
MED24	9862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	ENST00000394128.2	-	9	951	c.870C>A	c.(868-870)ttC>ttA	p.F290L	MED24_ENST00000394127.2_Missense_Mutation_p.F277L|MED24_ENST00000501516.3_Missense_Mutation_p.F309L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000394126.1_Missense_Mutation_p.F315L	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	290					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577																																																0													84.0	83.0	83.0					17																	38188968		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.870C>A	17.37:g.38188968G>T	ENSP00000377686:p.Phe290Leu		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545629	0.45280	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.36520	1.25;1.25;1.25	5.05	-8.84	0.00803	Mediator complex, subunit Med24, N-terminal (1);	0.106321	0.64402	N	0.000004	T	0.16128	0.0388	N	0.16602	0.42	0.48696	D	0.999695	B;B;B;B;B;B;B	0.14805	0.004;0.011;0.003;0.001;0.0;0.0;0.002	B;B;B;B;B;B;B	0.19666	0.006;0.026;0.003;0.005;0.002;0.003;0.004	T	0.37174	-0.9717	10	0.06891	T	0.86	-10.6718	16.9138	0.86146	0.6771:0.0:0.3229:0.0	.	240;219;240;200;277;290;232	B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;MED24_HUMAN;.	L	290;290;290;240;277;232;200	ENSP00000377686:F290L;ENSP00000443344:F240L;ENSP00000377685:F277L	ENSP00000348610:F290L	F	-	3	2	MED24	35442494	0.082000	0.21442	0.650000	0.29550	0.933000	0.57130	-0.384000	0.07389	-1.857000	0.01159	-0.137000	0.14449	TTC		0.577	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		23	24	23	24
ARRDC5	645432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C	rs367661784		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	ENST00000381781.2	-	3	690	c.691C>G	c.(691-693)Cag>Gag	p.Q231E	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	231										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587																																																0													90.0	94.0	93.0					19																	4891396		2084	4230	6314	SO:0001583	missense	645432				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.691C>G	19.37:g.4891396G>C	ENSP00000371200:p.Gln231Glu			Missense_Mutation	SNP	ENST00000381781.2	37	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.548855	0.13312	.	.	ENSG00000205784	ENST00000381781	T	0.17370	2.28	4.92	2.53	0.30540	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	2.099380	0.02091	N	0.053129	T	0.13628	0.0330	L	0.27053	0.805	0.09310	N	1	B	0.25772	0.134	B	0.26202	0.067	T	0.28396	-1.0045	10	0.06099	T	0.92	-3.6117	11.1773	0.48607	0.0:0.0:0.6699:0.3301	.	231	A6NEK1	ARRD5_HUMAN	E	231	ENSP00000371200:Q231E	ENSP00000371200:Q231E	Q	-	1	0	ARRDC5	4842396	0.033000	0.19621	0.006000	0.13384	0.002000	0.02628	2.239000	0.43079	1.340000	0.45581	0.655000	0.94253	CAG		0.587	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		13	39	13	39
PPP1R13L	10848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	ENST00000418234.2	-	8	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	530	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687																																					Pancreas(61;1447 1663 31419 50578)											0													32.0	37.0	35.0					19																	45895364		2203	4300	6503	SO:0001583	missense	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1589C>T	19.37:g.45895364G>A	ENSP00000403902:p.Ala530Val		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580175	0.46006	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.56444	0.46;0.46	4.79	1.03	0.20045	.	0.294975	0.36338	N	0.002656	T	0.27027	0.0662	N	0.08118	0	0.23144	N	0.998221	B;B	0.26672	0.018;0.156	B;B	0.21917	0.016;0.037	T	0.17379	-1.0371	10	0.48119	T	0.1	.	7.5712	0.27909	0.1709:0.4646:0.3645:0.0	.	530;109	Q8WUF5;A7YME7	IASPP_HUMAN;.	V	530;530;104	ENSP00000403902:A530V;ENSP00000354218:A530V	ENSP00000221478:A104V	A	-	2	0	PPP1R13L	50587204	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	3.318000	0.51975	0.503000	0.28060	-0.321000	0.08615	GCC		0.687	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		12	59	12	59
EXTL1	2134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	ENST00000374280.3	+	1	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	31					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657																																																0													54.0	57.0	56.0					1																	26349229		2203	4300	6503	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.92G>A	1.37:g.26349229G>A	ENSP00000363398:p.Arg31His		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847410	0.51164	.	.	ENSG00000158008	ENST00000374280	D	0.95307	-3.67	5.32	4.33	0.51752	.	0.420814	0.24182	N	0.040784	D	0.94321	0.8175	L	0.50919	1.6	0.34348	D	0.689557	D	0.71674	0.998	P	0.58970	0.849	D	0.94397	0.7619	10	0.42905	T	0.14	-28.8255	8.9127	0.35563	0.1696:0.0:0.8304:0.0	.	31	Q92935	EXTL1_HUMAN	H	31	ENSP00000363398:R31H	ENSP00000363398:R31H	R	+	2	0	EXTL1	26221816	0.571000	0.26659	1.000000	0.80357	0.860000	0.49131	2.753000	0.47524	2.760000	0.94817	0.655000	0.94253	CGC		0.657	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		31	11	31	11
G0S2	50486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	209849305	209849305	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	ENST00000367029.4	+	2	438	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	92					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667																																																0													14.0	17.0	16.0					1																	209849305		2156	4234	6390	SO:0001819	synonymous_variant	50486				CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.276C>T	1.37:g.209849305C>T			Q6FGC8	Silent	SNP	ENST00000367029.4	37	CCDS1488.1																																																																																				0.667	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		13	28	13	28
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	237957283	237957283	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	ENST00000366574.2	+	95	14216	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_ENST00000542537.1_Silent_p.L4617L|RYR2_ENST00000360064.6_Silent_p.L4639L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4633					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATAGACTCGTAATCAACA	0.363																																																0													71.0	69.0	69.0					1																	237957283		1819	4081	5900	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13899C>T	1.37:g.237957283C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	21	16	21
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	60888747	60888747	+	Silent	SNP	G	G	A	rs187988761		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	ENST00000252999.3	-	63	8682	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2872	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGACGAAGTCGTCTGGCCGCA	0.662													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14737	0.0		0.0	False		,,,				2504	0.0															0													90.0	73.0	79.0					20																	60888747		2203	4297	6500	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8616C>T	20.37:g.60888747G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		76	96	76	96
FZD7	8324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	ENST00000286201.1	+	1	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	449					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													113.0	92.0	99.0					2																	202900715		2203	4300	6503	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1345C>T	2.37:g.202900715C>T	ENSP00000286201:p.Arg449Cys	2133	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546322	0.86022	.	.	ENSG00000155760	ENST00000286201	D	0.83673	-1.75	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94344	0.7573	10	0.87932	D	0	.	19.4726	0.94969	0.0:1.0:0.0:0.0	.	449	O75084	FZD7_HUMAN	C	449	ENSP00000286201:R449C	ENSP00000286201:R449C	R	+	1	0	FZD7	202608960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.118000	0.50414	2.618000	0.88619	0.561000	0.74099	CGT		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		41	103	41	103
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	39	25	39
ECT2	1894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	ENST00000392692.3	+	16	1899	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000232458.5_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000417960.1_Missense_Mutation_p.L543F	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	575	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCATGCTTTTCTCAAGGTAAT	0.274																																																0													44.0	49.0	47.0					3																	172501694		2201	4284	6485	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1723C>T	3.37:g.172501694C>T	ENSP00000376457:p.Leu575Phe		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870394	0.72065	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.98	3.22	0.36961	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;0.985	D;D;D;D;D	0.97110	0.99;0.963;1.0;0.977;0.943	T	0.77958	-0.2392	10	0.87932	D	0	-9.6519	8.6665	0.34123	0.0:0.6715:0.0:0.3285	.	575;20;575;544;543	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	F	544;575;544;543;544;575	ENSP00000232458:L544F;ENSP00000376457:L575F;ENSP00000401910:L544F;ENSP00000415876:L543F;ENSP00000412259:L544F;ENSP00000443160:L575F	ENSP00000232458:L544F	L	+	1	0	ECT2	173984388	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.049000	0.30392	1.541000	0.49316	-0.145000	0.13849	CTC		0.274	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		18	23	18	23
ABCE1	6059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A	rs201368309		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	ENST00000296577.4	+	15	2020	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	502	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383																																																0													84.0	85.0	85.0					4																	146044497		2203	4300	6503	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1505G>A	4.37:g.146044497G>A	ENSP00000296577:p.Arg502Gln		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015483	0.75161	.	.	ENSG00000164163	ENST00000296577	D	0.90955	-2.76	5.69	4.85	0.62838	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	N	0.16708	0.43	0.80722	D	1	P	0.42248	0.774	B	0.35688	0.208	D	0.85404	0.1133	10	0.87932	D	0	-30.0107	15.2472	0.73513	0.0673:0.0:0.9327:0.0	.	502	P61221	ABCE1_HUMAN	Q	502	ENSP00000296577:R502Q	ENSP00000296577:R502Q	R	+	2	0	ABCE1	146263947	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	1.557000	0.49525	-0.119000	0.15052	CGA		0.383	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		41	33	41	33
PHF3	23469	hgsc.bcm.edu;broad.mit.edu	37	6	64423124	64423124	+	Silent	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	ENST00000262043.3	+	16	5980	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_ENST00000393387.1_Silent_p.G1880G			Q92576	PHF3_HUMAN	PHD finger protein 3	1880					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTATATAGGCCCGCAGAATT	0.507																																					GBM(135;136 1820 29512 34071 46235)											0													71.0	80.0	77.0					6																	64423124		2203	4300	6503	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5640C>G	6.37:g.64423124C>G			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	CCDS4966.1																																																																																				0.507	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			12	155	12	155
SLC26A4	5172	hgsc.bcm.edu;broad.mit.edu	37	7	107314667	107314667	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	ENST00000265715.3	+	5	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	158					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGCCCCCGACGAACACTTTC	0.433									Pendred syndrome																																							0													149.0	140.0	143.0					7																	107314667		2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.474C>T	7.37:g.107314667C>T			B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	85	5	85
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G	rs569537895		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0															0													151.0	145.0	147.0					9																	113194246		1971	4171	6142	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5302T>C	9.37:g.113194246A>G	ENSP00000384917:p.Tyr1768His		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587034	0.46110	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.94897	-3.55;-3.55	5.62	5.62	0.85841	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.058783	0.64402	D	0.000001	D	0.94594	0.8258	M	0.79614	2.46	0.80722	D	1	P	0.40931	0.733	B	0.42112	0.376	D	0.94293	0.7530	10	0.44086	T	0.13	.	15.8276	0.78727	1.0:0.0:0.0:0.0	.	1768	Q4LDE5	SVEP1_HUMAN	H	1768;1745	ENSP00000384917:Y1768H;ENSP00000363593:Y1745H	ENSP00000363593:Y1745H	Y	-	1	0	SVEP1	112234067	1.000000	0.71417	0.980000	0.43619	0.013000	0.08279	6.580000	0.74040	2.122000	0.65172	0.533000	0.62120	TAC		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	75	29	75
XPNPEP2	7512	broad.mit.edu;ucsc.edu	37	X	128879232	128879232	+	Silent	SNP	A	A	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	ENST00000371106.3	+	4	480	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_ENST00000371105.3_Silent_p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	96						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGCTTTACAGGGTCTGCAG	0.488																																																0													333.0	202.0	246.0					X																	128879232		2203	4300	6503	SO:0001819	synonymous_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.288A>T	X.37:g.128879232A>T			A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.488	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		3	31	3	31
TACR3	6870	broad.mit.edu;ucsc.edu	37	4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	ENST00000304883.2	-	5	1459	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	440					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478																																																0													161.0	153.0	156.0					4																	104510918		2203	4300	6503	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1319C>T	4.37:g.104510918G>A	ENSP00000303325:p.Ser440Phe		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582789	0.65992	.	.	ENSG00000169836	ENST00000304883	T	0.67345	-0.26	5.48	5.48	0.80851	.	0.083720	0.51477	D	0.000086	T	0.76169	0.3950	M	0.73319	2.225	0.51482	D	0.999928	D	0.54397	0.966	P	0.52159	0.691	T	0.78879	-0.2030	10	0.62326	D	0.03	.	18.3752	0.90433	0.0:0.0:1.0:0.0	.	440	P29371	NK3R_HUMAN	F	440	ENSP00000303325:S440F	ENSP00000303325:S440F	S	-	2	0	TACR3	104730367	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	5.709000	0.68384	2.572000	0.86782	0.655000	0.94253	TCT		0.478	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		70	107	70	107
GBA2	57704	broad.mit.edu;ucsc.edu	37	9	35736644	35736644	+	IGR	SNP	A	A	C	rs200877201	byFrequency	TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Missense_Mutation_p.Q346P|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCTGCAGGCAAATCTC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													135.0	138.0	137.0					9																	35736644		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736644A>C		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250284	0.22880	.	.	ENSG00000107175	ENST00000353704	T	0.64438	-0.1	5.87	1.9	0.25705	.	0.481828	0.19683	N	0.108464	T	0.47021	0.1423	L	0.34521	1.04	0.21064	N	0.999798	P;B	0.38335	0.627;0.001	B;B	0.34489	0.184;0.004	T	0.33954	-0.9848	10	0.45353	T	0.12	.	11.5434	0.50679	0.57:0.4299:0.0:0.0	.	370;346	O43889;O43889-2	CREB3_HUMAN;.	P	346	ENSP00000342136:Q346P	ENSP00000342136:Q346P	Q	+	2	0	CREB3	35726644	0.062000	0.20869	0.849000	0.33467	0.251000	0.25915	0.190000	0.17057	0.519000	0.28406	0.533000	0.62120	CAG		0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		75	199	75	199
ITSN1	6453	broad.mit.edu;ucsc.edu	37	21	35183494	35183494	+	Silent	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399326.3_Silent_p.T840T|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547																																																0													87.0	81.0	83.0					21																	35183494		2203	4300	6503	SO:0001819	synonymous_variant	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2535G>A	21.37:g.35183494G>A			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958029	0.18507	.	.	ENSG00000205726	ENST00000440794	.	.	.	5.9	-9.33	0.00639	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.19451	-1.0305	4	.	.	.	.	5.5602	0.17140	0.4795:0.3105:0.1373:0.0728	.	.	.	.	N	80	.	.	D	+	1	0	ITSN1	34105364	0.005000	0.15991	0.100000	0.21137	0.988000	0.76386	-0.402000	0.07223	-1.853000	0.01165	-0.251000	0.11542	GAC		0.547	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		40	105	40	105
SLC1A7	6512	broad.mit.edu;hgsc.bcm.edu	37	1	53553683	53553684	+	Stop_Codon_Del	DEL	AG	AG	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:53553683_53553684delAG	ENST00000371494.4	-	0	1807_1808				SLC1A7_ENST00000488036.1_5'UTR|RP11-334A14.5_ENST00000447867.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7						dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CCGCAGGCTCAGACATTGGTCT	0.663																																					NSCLC(128;80 1811 21245 38490 51715)											0																																										SO:0001567	stop_retained_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	Exception_encountered	1.37:g.53553683_53553684delAG	Exception_encountered		Q5VVZ0|Q969Z8|Q9BW45	Frame_Shift_Del	DEL	ENST00000371494.4	37	CCDS574.1																																																																																				0.663	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		18	20	18	20
CTNNB1	1499	broad.mit.edu;hgsc.bcm.edu	37	3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	ENST00000349496.5	+	9	1740	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	487					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GCAGTTCGCCTTCACTATGGA	0.493		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													197.0	178.0	184.0					3																	41275294		2203	4300	6503	SO:0001589	frameshift_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1460delT	3.37:g.41275294delT	ENSP00000344456:p.Leu487fs		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Frame_Shift_Del	DEL	ENST00000349496.5	37	CCDS2694.1																																																																																				0.493	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		105	164	105	164
SGK223	157285	broad.mit.edu;hgsc.bcm.edu	37	8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	ENST00000520004.1	-	3	1364_1366	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del	SGK223_ENST00000330777.4_In_Frame_Del_p.M367del			Q86YV5	SG223_HUMAN		369							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCAGGTTCCTTCATGAGGGAGCA	0.68																																					GBM(34;731 755 10259 33573 33867)											0																																										SO:0001651	inframe_deletion	157285																														ENST00000520004.1:c.1100_1102delTGA	8.37:g.8234817_8234819delTCA	ENSP00000428054:p.Met367del		Q8N3N5	In_Frame_Del	DEL	ENST00000520004.1	37	CCDS43706.1																																																																																				0.680	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	26	15	26
KAT6B	23522	broad.mit.edu;hgsc.bcm.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																																0																																										SO:0001589	frameshift_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		14	37	14	37
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu	37	16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	ENST00000319715.4	+	7	1084_1085	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y218fs|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	218					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401																																																0																																										SO:0001589	frameshift_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.653dupA	16.37:g.24567747_24567747dupA	ENSP00000317872:p.Tyr218fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	CCDS10621.1																																																																																				0.401	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	50	14	50
ZACN	353174	broad.mit.edu;hgsc.bcm.edu	37	17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	ENST00000334586.5	+	3	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	82					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569																																																0																																										SO:0001589	frameshift_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.245_246dupCC	17.37:g.74075805_74075806dupCC	ENSP00000334854:p.Ser82fs		Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Ins	INS	ENST00000334586.5	37	CCDS11740.2																																																																																				0.569	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		21	55	21	55
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-	rs587778206		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	ENST00000575354.2	+	16	3868_3869	c.3828_3829delGC	c.(3826-3831)tggcgcfs	p.R1277fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.R1275fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.R2184fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1277	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTCAGACTGGCGCGTCCCTGG	0.649			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3828_3829delGC	19.37:g.42797778_42797779delGC	ENSP00000458663:p.Arg1277fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	7	10	7
CIC	23152	broad.mit.edu	37	19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A	rs368086483|rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	ENST00000575354.2	+	20	4513_4514	c.4473_4474insA	c.(4474-4476)gccfs	p.A1492fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1490fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2398fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCCACAGCCGCCTTCCAGGC	0.574			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		Exception_encountered	19.37:g.42798989_42798990insA	ENSP00000458663:p.Ala1492fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																				0.574	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	71	8	71
