#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
SYT7	9066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	rs382505		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr11:61295549C>T	ENST00000263846.4	-	5	787	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.			V -> L (in Ref. 1; AAB92667). {ECO:0000305}.	exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612																																																0													77.0	81.0	80.0					11																	61295549		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.460G>A	11.37:g.61295549C>T	ENSP00000263846:p.Val154Met		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782594	0.90282	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.80738	2.16;2.16;2.16;2.16;2.16;2.16;-1.41	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	D	0.95085	0.8217	10	0.87932	D	0	.	17.949	0.89046	0.0:1.0:0.0:0.0	.	229;154	F5GZU9;O43581	.;SYT7_HUMAN	M	154;229;437;198;362;273;154	ENSP00000263846:V154M;ENSP00000444201:V229M;ENSP00000439694:V437M;ENSP00000444568:V198M;ENSP00000444019:V362M;ENSP00000437720:V273M;ENSP00000443576:V154M	ENSP00000263846:V154M	V	-	1	0	SYT7	61052125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.420000	0.82092	0.561000	0.74099	GTG		0.612	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		25	123	25	123
RAD52	5893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	1023182	1023182	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:1023182A>T	ENST00000358495.3	-	11	1211	c.1073T>A	c.(1072-1074)tTa>tAa	p.L358*	RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281*|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	358					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTTCAAGGCTAATGTGTCAGA	0.522								Homologous recombination																																								0													156.0	146.0	149.0					12																	1023182		1996	4162	6158	SO:0001587	stop_gained	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1073T>A	12.37:g.1023182A>T	ENSP00000351284:p.Leu358*		Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Nonsense_Mutation	SNP	ENST00000358495.3	37	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233316	0.58886	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	.	.	.	5.1	0.801	0.18679	.	0.676123	0.14818	N	0.296631	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-4.598	4.7127	0.12880	0.2177:0.3542:0.4281:0.0	.	.	.	.	X	358;358;281	.	ENSP00000351284:L358X	L	-	2	0	RAD52	893443	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.515000	0.35845	0.036000	0.15547	0.454000	0.30748	TTA		0.522	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		17	104	17	104
TMEM132B	114795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:125900205G>A	ENST00000299308.3	+	3	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	358						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592																																																0													46.0	55.0	52.0					12																	125900205		2176	4263	6439	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1073G>A	12.37:g.125900205G>A	ENSP00000299308:p.Arg358His		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037353	0.35989	.	.	ENSG00000139364	ENST00000299308	T	0.14266	2.52	5.63	-11.3	0.00108	.	.	.	.	.	T	0.03390	0.0098	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	9	0.41790	T	0.15	.	0.5094	0.00592	0.2778:0.1616:0.283:0.2776	.	358	Q14DG7	T132B_HUMAN	H	358	ENSP00000299308:R358H	ENSP00000299308:R358H	R	+	2	0	TMEM132B	124466158	0.000000	0.05858	0.010000	0.14722	0.960000	0.62799	-1.761000	0.01805	-2.136000	0.00810	-0.140000	0.14226	CGC		0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	71	16	71
ITGAX	3687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	rs200458998		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617																																																0													108.0	117.0	114.0					16																	31374553		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1568C>T	16.37:g.31374553C>T	ENSP00000268296:p.Ala523Val		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345086	0.82022	.	.	ENSG00000140678	ENST00000268296	T	0.24538	1.85	4.03	4.03	0.46877	.	.	.	.	.	T	0.33440	0.0863	M	0.78049	2.395	0.37132	D	0.901292	D	0.71674	0.998	B	0.43331	0.416	T	0.54430	-0.8295	9	0.66056	D	0.02	.	13.447	0.61146	0.0:1.0:0.0:0.0	.	523	P20702	ITAX_HUMAN	V	523	ENSP00000268296:A523V	ENSP00000268296:A523V	A	+	2	0	ITGAX	31282054	0.869000	0.29996	0.996000	0.52242	0.944000	0.59088	1.939000	0.40213	1.952000	0.56665	0.460000	0.39030	GCG		0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		43	232	43	232
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9082770	9082770	+	Silent	SNP	A	A	G			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9082770A>G	ENST00000397910.4	-	1	9248	c.9045T>C	c.(9043-9045)acT>acC	p.T3015T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3016	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGAAGAGAGTTGTGAGTT	0.493																																																0													120.0	121.0	121.0					19																	9082770		2100	4230	6330	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9045T>C	19.37:g.9082770A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	98	26	98
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42791719	42791719	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:42791719G>A	ENST00000575354.2	+	5	645	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	CIC_ENST00000160740.3_Missense_Mutation_p.R202Q|CIC_ENST00000572681.2_Missense_Mutation_p.R1111Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					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)				CACATCCGGCGGCCCATGAAT	0.627			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													63.0	67.0	66.0					19																	42791719		2203	4300	6503	SO:0001583	missense	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.605G>A	19.37:g.42791719G>A	ENSP00000458663:p.Arg202Gln		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590280	0.66105	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.86447	0.5935	H	0.95470	3.675	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.90483	0.4461	8	0.87932	D	0	-13.7219	14.5138	0.67807	0.0:0.0:1.0:0.0	.	202	Q96RK0	CIC_HUMAN	Q	202	.	ENSP00000160740:R202Q	R	+	2	0	CIC	47483559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			27	65	27	65
NR5A2	2494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	200017321	200017321	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:200017321G>A	ENST00000367362.3	+	5	731	c.485G>A	c.(484-486)cGt>cAt	p.R162H	NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	162					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GACCGAATGCGTGGAGGAAGG	0.478																																					Melanoma(179;1138 2773 15678 26136)											0													78.0	78.0	78.0					1																	200017321		2203	4300	6503	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.485G>A	1.37:g.200017321G>A	ENSP00000356331:p.Arg162His		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291742|5.291742	0.95546|0.95546	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	T;T;T|.	0.56611|.	0.45;0.45;0.45|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81569|0.81569	0.4850|0.4850	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.80317|0.80317	-0.1433|-0.1433	9|5	.|.	.|.	.|.	.|.	20.312|20.312	0.98644|0.98644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;162|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	H|M	162;116;90;82|83	ENSP00000356331:R162H;ENSP00000236914:R116H;ENSP00000439116:R90H|.	.|.	R|V	+|+	2|1	0|0	NR5A2|NR5A2	198283944|198283944	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.998000|0.998000	0.95712|0.95712	9.747000|9.747000	0.98863|0.98863	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.478	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			14	112	14	112
OR2G6	391211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	248685210	248685210	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:248685210A>T	ENST00000343414.4	+	1	295	c.263A>T	c.(262-264)aAa>aTa	p.K88I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAATAAGAAAGACAAAACC	0.517																																																0													122.0	116.0	118.0					1																	248685210		2203	4300	6503	SO:0001583	missense	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.263A>T	1.37:g.248685210A>T	ENSP00000341291:p.Lys88Ile		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	2.792	-0.251010	0.05867	.	.	ENSG00000188558	ENST00000343414	T	0.01313	5.02	3.68	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	0.671285	0.12837	U	0.435123	T	0.01421	0.0046	L	0.46741	1.465	0.09310	N	1	B	0.25235	0.121	B	0.20955	0.032	T	0.32134	-0.9918	10	0.52906	T	0.07	.	6.4363	0.21825	0.3253:0.3587:0.3161:0.0	.	88	Q5TZ20	OR2G6_HUMAN	I	88	ENSP00000341291:K88I	ENSP00000341291:K88I	K	+	2	0	OR2G6	246751833	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.091000	0.11146	-1.859000	0.01156	-2.224000	0.00294	AAA		0.517	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		40	98	40	98
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10941933	10941933	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr21:10941933T>C	ENST00000361285.4	-	14	1099	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	TPTE_ENST00000298232.7_Missense_Mutation_p.Q239R|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGAAAGACTGCCTTCCAGA	0.308																																																0													219.0	212.0	214.0					21																	10941933		2203	4299	6502	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.770A>G	21.37:g.10941933T>C	ENSP00000355208:p.Gln257Arg		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	2.568	-0.300384	0.05532	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29655	1.56;1.56;1.56	1.8	0.606	0.17559	Phosphatase tensin type (1);	0.261631	0.38605	U	0.001633	T	0.19644	0.0472	L	0.38692	1.165	0.36430	D	0.864865	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.17722	0.019;0.019;0.005	T	0.06789	-1.0807	10	0.46703	T	0.11	-1.3642	5.0279	0.14395	0.0:0.1772:0.0:0.8228	.	219;239;257	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	239;257;219	ENSP00000298232:Q239R;ENSP00000355208:Q257R;ENSP00000344441:Q219R	ENSP00000298232:Q239R	Q	-	2	0	TPTE	9963804	1.000000	0.71417	0.048000	0.18961	0.092000	0.18411	2.536000	0.45693	0.164000	0.19529	0.163000	0.16589	CAG		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			30	119	30	119
STON1	11037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	48809142	48809142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:48809142C>A	ENST00000406226.1	+	3	1565	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N|STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1_ENST00000309835.3_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	457	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTTTTTAACCTTGAATGAC	0.373																																																0													125.0	131.0	129.0					2																	48809142		2203	4300	6503	SO:0001583	missense	11037			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1370C>A	2.37:g.48809142C>A	ENSP00000384615:p.Thr457Asn		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428966	0.62844	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.54	5.54	0.83059	Clathrin adaptor, mu subunit, C-terminal (3);	0.198218	0.53938	D	0.000046	T	0.40398	0.1115	L	0.51422	1.61	0.30758	N	0.74437	D;B;D	0.60160	0.979;0.437;0.987	P;B;P	0.60012	0.69;0.235;0.867	T	0.21042	-1.0257	10	0.87932	D	0	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	457;457;457	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	N	457	ENSP00000385273:T457N;ENSP00000384615:T457N;ENSP00000310969:T457N;ENSP00000385499:T457N;ENSP00000385701:T457N;ENSP00000378236:T457N;ENSP00000311493:T457N;ENSP00000378234:T457N	ENSP00000310969:T457N	T	+	2	0	STON1-GTF2A1L;STON1	48662646	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.549000	0.67261	2.884000	0.98904	0.655000	0.94253	ACC		0.373	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		52	85	52	85
ARHGEF4	50649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	131797917	131797917	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:131797917C>A	ENST00000326016.5	+	8	1527	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	ARHGEF4_ENST00000392953.3_Silent_p.I336I|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000355771.3_Silent_p.I265I|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCGAGGACATCTACCGCTGCC	0.642																																																0													35.0	33.0	34.0					2																	131797917		2202	4300	6502	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1008C>A	2.37:g.131797917C>A			Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																				0.642	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			13	25	13	25
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	152497171	152497171	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:152497171T>C	ENST00000172853.10	-	61	8530	c.8383A>G	c.(8383-8385)Aaa>Gaa	p.K2795E	NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000604864.1_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E|NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000397345.3_Missense_Mutation_p.K2795E			P20929	NEBU_HUMAN	nebulin	2795					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTCTTTGTACTTGAAC	0.403																																																0													93.0	85.0	87.0					2																	152497171		1839	4085	5924	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8383A>G	2.37:g.152497171T>C	ENSP00000172853:p.Lys2795Glu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	24.6	4.547524	0.86022	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69040	-0.37;3.02;3.02;-0.37	6.17	6.17	0.99709	.	0.111517	0.64402	D	0.000018	D	0.85168	0.5635	M	0.91612	3.225	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	D	0.88300	0.2949	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2795	P20929	NEBU_HUMAN	E	2795	ENSP00000386259:K2795E;ENSP00000380505:K2795E;ENSP00000416578:K2795E;ENSP00000172853:K2795E	ENSP00000172853:K2795E	K	-	1	0	NEB	152205417	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.213000	0.72194	2.371000	0.80710	0.533000	0.62120	AAA		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		73	85	73	85
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	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			30	28	30	28
TLR9	54106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52257400	52257400	+	Missense_Mutation	SNP	C	C	T	rs141692865		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:52257400C>T	ENST00000360658.2	-	2	1565	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000597542.1_Missense_Mutation_p.R335Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	311					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GTCCAGCACTCGGAGGTTTCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21478	0.0		0.001	False		,,,				2504	0.0															0								C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	86.0	86.0		932	-1.7	0.0	3	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TLR9	NM_017442.3	43	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	benign	311/1033	52257400	10,12996	2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.932G>A	3.37:g.52257400C>T	ENSP00000353874:p.Arg311Gln		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	0.523	-0.861271	0.02610	4.54E-4	9.3E-4	ENSG00000239732	ENST00000360658	T	0.55760	0.5	5.24	-1.68	0.08212	.	5.959150	0.00622	N	0.000453	T	0.28599	0.0708	N	0.16098	0.37	0.09310	N	1	B;B	0.15473	0.01;0.013	B;B	0.10450	0.005;0.004	T	0.10154	-1.0642	10	0.07175	T	0.84	.	1.7902	0.03049	0.2639:0.3654:0.2423:0.1283	.	408;311	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	311	ENSP00000353874:R311Q	ENSP00000353874:R311Q	R	-	2	0	TLR9	52232440	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	0.304000	0.19228	-0.334000	0.08463	-0.867000	0.03001	CGA		0.532	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			25	85	25	85
CXCL13	10563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	78528958	78528958	+	Missense_Mutation	SNP	C	C	T	rs150188610		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:78528958C>T	ENST00000286758.4	+	3	244	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	56					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AATCTTGCCCCGTGGGAATGG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17547	0.001		0.0	False		,,,				2504	0.0															0													110.0	102.0	104.0					4																	78528958		2203	4300	6503	SO:0001583	missense	10563			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.166C>T	4.37:g.78528958C>T	ENSP00000286758:p.Arg56Cys			Missense_Mutation	SNP	ENST00000286758.4	37	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011704	0.54468	.	.	ENSG00000156234	ENST00000286758	T	0.04970	3.52	4.74	3.85	0.44370	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.500904	0.20600	N	0.089162	T	0.17323	0.0416	L	0.53249	1.67	0.32965	D	0.521587	D	0.89917	1.0	D	0.65773	0.938	T	0.09422	-1.0675	10	0.62326	D	0.03	-8.1945	11.1366	0.48378	0.0:0.7655:0.2345:0.0	.	56	O43927	CXL13_HUMAN	C	56	ENSP00000286758:R56C	ENSP00000286758:R56C	R	+	1	0	CXCL13	78747982	0.406000	0.25344	0.811000	0.32455	0.035000	0.12851	0.624000	0.24462	1.352000	0.45808	0.563000	0.77884	CGT		0.383	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1			13	60	13	60
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	123166209	123166209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:123166209C>T	ENST00000264501.4	+	32	5324	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*			Q2LD37	K1109_HUMAN	KIAA1109	1651					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTAGTACCCGACATCCAGC	0.343																																																0													147.0	139.0	141.0					4																	123166209		1864	4104	5968	SO:0001587	stop_gained	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4951C>T	4.37:g.123166209C>T	ENSP00000264501:p.Arg1651*		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	46	12.154873	0.99641	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	5.75	4.91	0.64330	.	0.175671	0.23928	U	0.043166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	10.5556	0.45114	0.1344:0.7972:0.0:0.0684	.	.	.	.	X	1651	.	ENSP00000264501:R1651X	R	+	1	2	KIAA1109	123385659	0.980000	0.34600	0.994000	0.49952	0.998000	0.95712	2.879000	0.48522	1.413000	0.46997	0.655000	0.94253	CGA		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		21	64	21	64
PCDHA5	56143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140201485	140201485	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:140201485C>A	ENST00000529859.1	+	1	125	c.125C>A	c.(124-126)aCc>aAc	p.T42N	PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGAACCTTCGTTGGC	0.677																																																0													56.0	63.0	61.0					5																	140201485		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.125C>A	5.37:g.140201485C>A	ENSP00000436557:p.Thr42Asn		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832530	0.50845	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.46819	0.86;0.86;0.86	3.87	2.98	0.34508	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.65606	0.2707	H	0.97131	3.945	0.30883	N	0.731248	B;B;B	0.28055	0.086;0.123;0.199	B;B;B	0.34590	0.151;0.132;0.186	T	0.70004	-0.4991	9	0.66056	D	0.02	.	11.909	0.52729	0.0:0.9119:0.0:0.0881	.	42;42;42	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	42	ENSP00000433416:T42N;ENSP00000436557:T42N;ENSP00000367366:T42N	ENSP00000367366:T42N	T	+	2	0	PCDHA5	140181669	0.014000	0.17966	1.000000	0.80357	0.896000	0.52359	2.696000	0.47052	0.719000	0.32188	0.585000	0.79938	ACC		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	106	24	106
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150946296	150946296	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:150946296G>A	ENST00000261800.5	-	1	2209	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	733	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCAAGGGGGTGTTGATA	0.483																																																0													78.0	86.0	84.0					5																	150946296		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2197C>T	5.37:g.150946296G>A	ENSP00000261800:p.Pro733Ser		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.600720	0.00123	.	.	ENSG00000086570	ENST00000261800	T	0.49720	0.77	5.78	-3.0	0.05480	Cadherin (3);Cadherin-like (1);	0.472711	0.21193	N	0.078604	T	0.11665	0.0284	N	0.00656	-1.285	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34229	-0.9837	10	0.16896	T	0.51	.	5.5567	0.17121	0.4476:0.0:0.2184:0.3341	.	733	Q9NYQ8	FAT2_HUMAN	S	733	ENSP00000261800:P733S	ENSP00000261800:P733S	P	-	1	0	FAT2	150926489	0.320000	0.24616	0.005000	0.12908	0.201000	0.24016	0.880000	0.28159	-0.295000	0.08960	-0.137000	0.14449	CCC		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		62	96	62	96
STEAP1	26872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	89790617	89790617	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:89790617T>A	ENST00000297205.2	+	3	783	c.583T>A	c.(583-585)Tgg>Agg	p.W195R	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	195	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GTTGCTAAACTGGGCATATCA	0.363																																																0													71.0	60.0	64.0					7																	89790617		2202	4297	6499	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.583T>A	7.37:g.89790617T>A	ENSP00000297205:p.Trp195Arg		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	9.972	1.225678	0.22542	.	.	ENSG00000164647	ENST00000297205	T	0.06528	3.29	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000003	T	0.11239	0.0274	N	0.17082	0.46	0.41569	D	0.98867	D;D	0.69078	0.997;0.991	D;D	0.69824	0.966;0.93	T	0.45659	-0.9246	10	0.13853	T	0.58	-5.383	15.3814	0.74658	0.0:0.0:0.0:1.0	.	195;195	B4E221;Q9UHE8	.;STEA1_HUMAN	R	195	ENSP00000297205:W195R	ENSP00000297205:W195R	W	+	1	0	STEAP1	89628553	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	4.279000	0.58953	2.216000	0.71823	0.533000	0.62120	TGG		0.363	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		5	37	5	37
KLF14	136259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	130418098	130418098	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:130418098A>C	ENST00000310992.4	-	1	790	c.763T>G	c.(763-765)Ttc>Gtc	p.F255V		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGGCAGGAGAAGCGCTTCTCG	0.622																																																0													54.0	52.0	53.0					7																	130418098		2203	4300	6503	SO:0001583	missense	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.763T>G	7.37:g.130418098A>C	ENSP00000310878:p.Phe255Val		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639121	0.87760	.	.	ENSG00000174595	ENST00000310992	T	0.22945	1.93	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34725	N	0.003733	T	0.47619	0.1455	M	0.67397	2.05	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.50276	-0.8847	10	0.87932	D	0	.	12.2517	0.54601	1.0:0.0:0.0:0.0	.	255	Q8TD94	KLF14_HUMAN	V	255	ENSP00000310878:F255V	ENSP00000310878:F255V	F	-	1	0	KLF14	130068638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.766000	0.91728	1.924000	0.55735	0.459000	0.35465	TTC		0.622	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		9	23	9	23
KDM5B	10765	broad.mit.edu;ucsc.edu	37	1	202719900	202719900	+	Nonsense_Mutation	SNP	G	G	A	rs367833330		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:202719900G>A	ENST00000367265.3	-	13	2872	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KDM5B_ENST00000456180.1_5'Flank|KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGATTAGTTCGGTAAACCTAA	0.358																																																0								G	stop/ARG	0,4406		0,0,2203	86.0	89.0	88.0		1708	3.2	1.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KDM5B	NM_006618.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/1545	202719900	1,13005	2203	4300	6503	SO:0001587	stop_gained	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1708C>T	1.37:g.202719900G>A	ENSP00000356234:p.Arg570*		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	43	9.981919	0.99310	0.0	1.16E-4	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.15	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5821	14.3116	0.66419	0.0:0.0:0.614:0.386	.	.	.	.	X	570;412;606;412	.	ENSP00000235790:R412X	R	-	1	2	KDM5B	200986523	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.133000	0.57983	0.641000	0.30601	-0.195000	0.12781	CGA		0.358	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		40	40	40	40
JUP	3728	broad.mit.edu;ucsc.edu	37	17	39914694	39914694	+	Missense_Mutation	SNP	C	C	T	rs373434456		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39914694C>T	ENST00000393931.3	-	10	1848	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	JUP_ENST00000310706.5_Missense_Mutation_p.R577H|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GATCTCCATGCGGTTCATGGG	0.622																																					Colon(16;42 520 6044 17852 28530)											0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	89.0	69.0	76.0		1730,1730	4.4	1.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	JUP	NM_002230.2,NM_021991.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	577/746,577/746	39914694	1,13005	2203	4300	6503	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1730G>A	17.37:g.39914694C>T	ENSP00000377508:p.Arg577His		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163012	0.94727	0.0	1.16E-4	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.71222	-0.55;-0.55;-0.55	5.41	4.4	0.53042	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83479	0.0063	10	0.87932	D	0	-33.3945	14.8405	0.70220	0.1435:0.8565:0.0:0.0	.	577	P14923	PLAK_HUMAN	H	577	ENSP00000377507:R577H;ENSP00000311113:R577H;ENSP00000377508:R577H	ENSP00000311113:R577H	R	-	2	0	JUP	37168220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.815000	0.96918	0.561000	0.74099	CGC		0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			35	65	35	65
MRPS31P5	100887750	broad.mit.edu;ucsc.edu	37	13	52742281	52742281	+	RNA	SNP	A	A	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr13:52742281A>C	ENST00000451298.1	-	0	3358				MRPS31P5_ENST00000416599.1_RNA																							AAGGGCTCAGAGAACTGACCC	0.522																																																0																																												0																															13.37:g.52742281A>C				RNA	SNP	ENST00000451298.1	37																																																																																					0.522	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			8	31	8	31
LRRC37A2	474170	broad.mit.edu;hgsc.bcm.edu	37	17	44630803	44630812	+	Frame_Shift_Del	DEL	AAGGATTCTC	AAGGATTCTC	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:44630803_44630812delAAGGATTCTC	ENST00000576629.1	+	12	5342_5351	c.4847_4856delAAGGATTCTC	c.(4846-4857)gaaggattctcafs	p.EGFS1616fs	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1616						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAAGATGAAGAAGGATTCTCAAGGTAAATA	0.395																																																0																																										SO:0001589	frameshift_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4847_4856delAAGGATTCTC	17.37:g.44630803_44630812delAAGGATTCTC	ENSP00000459551:p.Glu1616fs		B7ZMC3	Frame_Shift_Del	DEL	ENST00000576629.1	37	CCDS42353.1																																																																																				0.395	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		22	89	22	89
