#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
LRRC18	474354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T	rs375635260	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	ENST00000374160.3	-	1	219	c.143G>A	c.(142-144)cGc>cAc	p.R48H	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		21442	0.0		0.0	False		,,,				2504	0.002															0								C	HIS/ARG,	0,4406		0,0,2203	97.0	85.0	89.0		143,	3.9	0.0	10		89	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron	WDFY4,LRRC18	NM_001006939.3,NM_020945.1	29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,	48/262,	50122058	2,13004	2203	4300	6503	SO:0001583	missense	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.143G>A	10.37:g.50122058C>T	ENSP00000363275:p.Arg48His		Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946225	0.53079	0.0	2.33E-4	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.52526	0.66;0.66	5.91	3.86	0.44501	.	0.278041	0.34853	N	0.003623	T	0.43344	0.1243	L	0.27053	0.805	0.23150	N	0.998213	D	0.65815	0.995	P	0.58577	0.841	T	0.19976	-1.0289	9	.	.	.	.	4.3224	0.11023	0.0:0.5637:0.0:0.4363	.	48	Q8N456	LRC18_HUMAN	H	48	ENSP00000363275:R48H;ENSP00000298124:R48H	.	R	-	2	0	LRRC18	49792064	0.983000	0.35010	0.021000	0.16686	0.342000	0.28953	4.092000	0.57707	1.509000	0.48786	0.650000	0.86243	CGC		0.507	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		25	54	25	54
CDH23	64072	hgsc.bcm.edu;broad.mit.edu	37	10	73544798	73544798	+	Missense_Mutation	SNP	C	C	T	rs368848049		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	ENST00000224721.6	+	42	5673	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1885	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602																																																0													81.0	86.0	84.0					10																	73544798		2182	4276	6458	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5668C>T	10.37:g.73544798C>T	ENSP00000224721:p.Arg1890Cys		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	17.41	3.383220	0.61845	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.41	3.5	0.40072	Cadherin (4);Cadherin-like (1);	0.166683	0.40728	N	0.001036	T	0.65281	0.2676	M	0.78637	2.42	0.80722	D	1	P	0.45531	0.86	P	0.49140	0.601	T	0.66582	-0.5887	9	0.40728	T	0.16	.	12.4755	0.55811	0.0:0.9173:0.0:0.0827	.	1885	Q9H251	CAD23_HUMAN	C	1890;1885;1888	.	ENSP00000224721:R1890C	R	+	1	0	CDH23	73214804	0.998000	0.40836	0.288000	0.24862	0.838000	0.47535	3.972000	0.56838	0.970000	0.38263	0.305000	0.20034	CGC		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		11	124	11	124
CCDC89	220388	hgsc.bcm.edu;broad.mit.edu	37	11	85397064	85397064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	ENST00000316398.3	-	1	256	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552																																																0													84.0	77.0	79.0					11																	85397064		2203	4299	6502	SO:0001583	missense	220388			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.110C>T	11.37:g.85397064G>A	ENSP00000320649:p.Thr37Met			Missense_Mutation	SNP	ENST00000316398.3	37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261538	0.05791	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.72	-1.05	0.10036	.	1.520310	0.03825	N	0.268238	T	0.04861	0.0131	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	8	.	.	.	0.1484	0.6172	0.00771	0.4378:0.123:0.2008:0.2383	.	37	Q8N998	CCD89_HUMAN	M	37	.	.	T	-	2	0	CCDC89	85074712	0.418000	0.25440	0.008000	0.14137	0.005000	0.04900	0.263000	0.18478	-0.176000	0.10707	-0.238000	0.12139	ACG		0.552	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		5	62	5	62
KCNJ1	3758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	ENST00000392664.2	-	2	201	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	KCNJ1_ENST00000392665.2_Missense_Mutation_p.V10I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	29					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	AAGCGAGTGACGACCCATTTC	0.408																																																0													115.0	110.0	111.0					11																	128710111		2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.85G>A	11.37:g.128710111C>T	ENSP00000376432:p.Val29Ile		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	0.142	-1.101265	0.01843	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94280	-2.5;-2.5;-2.5;-2.5;-2.44;-3.39	5.52	1.6	0.23607	.	1.717070	0.03739	N	0.254671	D	0.86075	0.5846	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74160	-0.3755	10	0.35671	T	0.21	.	9.4362	0.38639	0.0:0.5827:0.0:0.4173	.	29	P48048	IRK1_HUMAN	I	10;10;10;10;29;10	ENSP00000376433:V10I;ENSP00000376434:V10I;ENSP00000406320:V10I;ENSP00000316233:V10I;ENSP00000376432:V29I;ENSP00000316136:V10I	ENSP00000316136:V10I	V	-	1	0	KCNJ1	128215321	0.029000	0.19370	0.188000	0.23233	0.048000	0.14542	-0.312000	0.08113	0.301000	0.22738	-0.463000	0.05309	GTC		0.408	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		11	106	11	106
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	6128787	6128787	+	Missense_Mutation	SNP	G	G	A	rs61749370	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	ENST00000261405.5	-	28	4051	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1266			P -> L (in VWD2). {ECO:0000269|PubMed:8486782}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612																																																0			GRCh37	CM090294|CM930727	VWF	M	rs61749370						58.0	57.0	57.0					12																	6128787		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3797C>T	12.37:g.6128787G>A	ENSP00000261405:p.Pro1266Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	8.912	0.958985	0.18507	.	.	ENSG00000110799	ENST00000261405	T	0.33865	1.39	5.15	5.15	0.70609	.	0.000000	0.44097	D	0.000489	T	0.65238	0.2672	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.66763	-0.5841	10	0.21540	T	0.41	.	17.7812	0.88523	0.0:0.0:1.0:0.0	.	1266	P04275	VWF_HUMAN	L	1266	ENSP00000261405:P1266L	ENSP00000261405:P1266L	P	-	2	0	VWF	5999048	0.939000	0.31865	0.912000	0.35992	0.024000	0.10985	4.496000	0.60360	2.688000	0.91661	0.555000	0.69702	CCG		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		26	51	26	51
GATC	283459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	120894951	120894951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	ENST00000551806.1	+	4	421	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GATC_ENST00000551765.1_Silent_p.R109R																							ACTCCCATCGCGTCGTGGAGG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													124.0	97.0	106.0					12																	120894951		2203	4300	6503	SO:0001583	missense	0																														ENST00000551806.1:c.421C>T	12.37:g.120894951C>T	ENSP00000450281:p.Arg141Cys	1507		Missense_Mutation	SNP	ENST00000551806.1	37		.	.	.	.	.	.	.	.	.	.	C	0.134	-1.110571	0.01813	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.58	-8.18	0.01053	.	0.579130	0.19009	N	0.125130	T	0.22322	0.0538	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.19647	-1.0299	6	0.56958	D	0.05	-1.1464	1.1521	0.01788	0.2651:0.3474:0.1355:0.2521	.	.	.	.	C	141	.	ENSP00000450281:R141C	R	+	1	0	GATC	119379334	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.177000	0.03096	-2.814000	0.00346	-2.351000	0.00242	CGT		0.478	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000403635.1			19	37	19	37
TGM7	116179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	43584939	43584939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	ENST00000452443.2	-	3	411	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	136					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478																																																0													121.0	132.0	128.0					15																	43584939		2201	4299	6500	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.407C>T	15.37:g.43584939G>A	ENSP00000389466:p.Thr136Ile			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539191	0.27475	.	.	ENSG00000159495	ENST00000452443	D	0.88818	-2.43	5.32	-1.55	0.08558	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.900770	0.09670	N	0.771217	D	0.87374	0.6161	L	0.58583	1.82	0.09310	N	1	P	0.50710	0.938	B	0.44315	0.446	T	0.78797	-0.2063	10	0.38643	T	0.18	-1.2635	15.1427	0.72623	0.0:0.0:0.2116:0.7884	.	136	Q96PF1	TGM7_HUMAN	I	136	ENSP00000389466:T136I	ENSP00000389466:T136I	T	-	2	0	TGM7	41372231	0.034000	0.19679	0.840000	0.33206	0.009000	0.06853	1.043000	0.30316	-0.001000	0.14495	-0.314000	0.08810	ACT		0.478	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		70	97	70	97
ACSBG1	23205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	78475123	78475123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	ENST00000258873.4	-	6	873	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|liver(1)											101.0	93.0	96.0					15																	78475123		2196	4293	6489	SO:0001587	stop_gained	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.668G>A	15.37:g.78475123C>T	ENSP00000258873:p.Trp223*		B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592260	0.96590	.	.	ENSG00000103740	ENST00000258873	.	.	.	5.49	5.49	0.81192	.	0.149009	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4471	11.7867	0.52047	0.0:0.9207:0.0:0.0793	.	.	.	.	X	223	.	ENSP00000258873:W223X	W	-	2	0	ACSBG1	76262178	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.540000	0.53611	2.565000	0.86533	0.655000	0.94253	TGG		0.463	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		24	40	24	40
TMEM8A	58986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	427459	427459	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	ENST00000431232.2	-	3	586	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	142					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0																																										SO:0001819	synonymous_variant	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.426C>T	16.37:g.427459G>A		588	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	CCDS10407.1																																																																																				0.677	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		14	29	14	29
CES3	23491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	rs148620443		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	ENST00000303334.4	+	4	606	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.R179C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	179						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.0		0.001	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	138.0	122.0	127.0		535,535	2.0	0.8	16	dbSNP_134	127	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	CES3	NM_001185177.1,NM_024922.5	180,180	0,9,6491	TT,TC,CC		0.0814,0.0455,0.0692	probably-damaging,probably-damaging	179/569,179/572	66997813	9,12991	2200	4300	6500	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.535C>T	16.37:g.66997813C>T	ENSP00000304782:p.Arg179Cys		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.10	3.547802	0.65311	4.55E-4	8.14E-4	ENSG00000172828	ENST00000303334;ENST00000394037	D;D	0.90788	-2.73;-2.73	4.15	2.02	0.26589	Carboxylesterase, type B (1);	0.198539	0.25319	N	0.031529	D	0.96294	0.8791	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94029	0.7299	10	0.87932	D	0	.	5.0707	0.14606	0.345:0.5464:0.0:0.1086	.	179	Q6UWW8	EST3_HUMAN	C	179	ENSP00000304782:R179C;ENSP00000377602:R179C	ENSP00000304782:R179C	R	+	1	0	CES3	65555314	0.998000	0.40836	0.784000	0.31847	0.026000	0.11368	1.740000	0.38228	1.086000	0.41228	0.609000	0.83330	CGC		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		75	77	75	77
RFXANK	8625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	19307810	19307810	+	Missense_Mutation	SNP	C	C	T	rs368808881		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	ENST00000303088.4	+	4	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W|RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	76					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617																																																0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	84.0	79.0	81.0		226,223	3.0	1.0	19		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFXANK	NM_003721.2,NM_134440.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	76/261,75/238	19307810	1,13005	2203	4300	6503	SO:0001583	missense	8625			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.226C>T	19.37:g.19307810C>T	ENSP00000305071:p.Arg76Trp		O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	ENST00000303088.4	37	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013553	0.54468	0.0	1.16E-4	ENSG00000064490	ENST00000353145;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000543652;ENST00000540981;ENST00000541873;ENST00000392324;ENST00000535017	T;T;T;T;T;T;T;T	0.67698	1.08;1.04;1.03;1.01;1.65;-0.28;1.08;1.25	5.16	2.96	0.34315	.	0.050754	0.85682	D	0.000000	T	0.75162	0.3812	L	0.51422	1.61	0.49213	D	0.999764	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.992;0.982	T	0.75258	-0.3381	10	0.87932	D	0	-31.4598	11.2392	0.48960	0.4831:0.5169:0.0:0.0	.	76;76;75;76	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	W	75;76;76;75;76;76;75;75;41	ENSP00000262804:R75W;ENSP00000409138:R76W;ENSP00000305071:R76W;ENSP00000384572:R75W;ENSP00000439581:R76W;ENSP00000440325:R76W;ENSP00000376138:R75W;ENSP00000444280:R41W	ENSP00000305071:R76W	R	+	1	2	RFXANK	19168810	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.799000	0.38824	0.539000	0.28788	-0.314000	0.08810	CGG		0.617	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		31	241	31	241
FASLG	356	hgsc.bcm.edu;broad.mit.edu	37	1	172628634	172628634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:172628634G>T	ENST00000367721.2	+	1	477	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FASLG_ENST00000340030.3_Missense_Mutation_p.G98V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	98					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTAGGATTGGGCCTGGGGATG	0.572																																					Ovarian(28;486 876 30334 44033)											0													131.0	117.0	122.0					1																	172628634		2203	4300	6503	SO:0001583	missense	356			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.293G>T	1.37:g.172628634G>T	ENSP00000356694:p.Gly98Val		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616930	0.66672	.	.	ENSG00000117560	ENST00000340030;ENST00000367721	T;T	0.49139	0.79;1.28	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55835	-0.8078	10	0.87932	D	0	-18.3839	14.5784	0.68268	0.0:0.0:1.0:0.0	.	98;98	P48023-2;P48023	.;TNFL6_HUMAN	V	98	ENSP00000344739:G98V;ENSP00000356694:G98V	ENSP00000344739:G98V	G	+	2	0	FASLG	170895257	1.000000	0.71417	0.867000	0.34043	0.935000	0.57460	4.366000	0.59492	2.291000	0.77112	0.563000	0.77884	GGC		0.572	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			5	54	5	54
ADCY3	109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	ENST00000260600.5	-	6	2109	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	420					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.V420M(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642																																																1	Substitution - Missense(1)	lung(1)											104.0	101.0	102.0					2																	25062839		2203	4300	6503	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1258G>A	2.37:g.25062839C>T	ENSP00000260600:p.Val420Met		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169446	0.94768	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	5.05	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.96518	3.835	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97905	1.0305	10	0.87932	D	0	.	17.9882	0.89161	0.0:1.0:0.0:0.0	.	420;420;31	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	M	420;31;395;46;176;370	ENSP00000260600:V420M;ENSP00000384484:V31M;ENSP00000410120:V46M;ENSP00000399275:V176M;ENSP00000389799:V370M	ENSP00000260600:V420M	V	-	1	0	ADCY3	24916343	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.811000	0.86092	2.325000	0.78763	0.549000	0.68633	GTG		0.642	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			18	132	18	132
TRIM54	57159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	27522276	27522276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:27522276C>T	ENST00000380075.2	+	3	845	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TRIM54_ENST00000296098.4_Missense_Mutation_p.R169C	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	169	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTACAAACGCCAGAAGGT	0.522																																																0													46.0	40.0	42.0					2																	27522276		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.505C>T	2.37:g.27522276C>T	ENSP00000369415:p.Arg169Cys		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087902	0.76642	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.57907	0.37;0.37	5.57	5.57	0.84162	.	0.114431	0.56097	D	0.000031	T	0.60274	0.2256	L	0.47190	1.495	0.46564	D	0.999101	D;D	0.64830	0.994;0.973	P;P	0.57776	0.586;0.827	T	0.62539	-0.6833	10	0.72032	D	0.01	-26.0624	12.0465	0.53483	0.1722:0.8278:0.0:0.0	.	169;169	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	C	169	ENSP00000369415:R169C;ENSP00000296098:R169C	ENSP00000296098:R169C	R	+	1	0	TRIM54	27375780	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.645000	0.24782	2.593000	0.87608	0.561000	0.74099	CGC		0.522	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		16	28	16	28
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	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			41	72	41	72
FLNB	2317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	58095050	58095050	+	Splice_Site	SNP	G	G	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	ENST00000295956.4	+	14	2364		c.e14+1		FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552																																																0													59.0	50.0	54.0					3																	58095050		2203	4300	6503	SO:0001630	splice_region_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2199+1G>C	3.37:g.58095050G>C			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122827	0.94429	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58070090	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.699000	0.92147	0.655000	0.94253	.		0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	8	13	8	13
PHKG1	5260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	56145816	56145816	+	IGR	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000434526.2_Nonsense_Mutation_p.K224*|SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205*	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532																																					Melanoma(184;580 2064 5329 24177 35303)											0													136.0	116.0	123.0					7																	56145816		2203	4300	6503	SO:0001628	intergenic_variant	25870			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56145816A>T			B7Z1D0|F5H2S1|Q75LP5	Nonsense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262992	0.80358	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	.	.	.	5.32	1.5	0.22942	.	0.512403	0.21035	N	0.081266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-22.5447	6.1732	0.20429	0.6051:0.3141:0.0807:0.0	.	.	.	.	X	209;224;117;140;227;224;136;205;222	.	ENSP00000275607:K117X	K	+	1	0	SUMF2	56113310	0.820000	0.29190	0.632000	0.29296	0.628000	0.37860	1.755000	0.38379	0.377000	0.24735	0.482000	0.46254	AAA		0.532	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		17	156	17	156
KLHL15	80311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	24006740	24006740	+	Silent	SNP	T	T	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	ENST00000328046.8	-	4	1368	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	371					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458																																																0													116.0	108.0	111.0					X																	24006740		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1113A>G	X.37:g.24006740T>C			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	CCDS35217.1																																																																																				0.458	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		103	135	103	135
SOX3	6658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	139586763	139586763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632																																																1	Substitution - Missense(1)	large_intestine(1)											49.0	50.0	50.0					X																	139586763		2203	4300	6503	SO:0001583	missense	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.463C>T	X.37:g.139586763G>A	ENSP00000359567:p.Arg155Cys		P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518465	0.64634	.	.	ENSG00000134595	ENST00000370536	D	0.99277	-5.67	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.99465	0.9810	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98794	1.0737	9	.	.	.	.	10.1878	0.43009	0.0:0.0:0.8014:0.1986	.	155	P41225	SOX3_HUMAN	C	155	ENSP00000359567:R155C	.	R	-	1	0	SOX3	139414429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	1.638000	0.50547	0.525000	0.51046	CGC		0.632	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			39	43	39	43
FLNA	2316	hgsc.bcm.edu;broad.mit.edu	37	X	153593776	153593776	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	ENST00000369850.3	-	10	1744	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y|FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000422373.1_Missense_Mutation_p.F503Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	503					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTACACCTTGAAGTCAGCTGT	0.672																																																0													55.0	57.0	57.0					X																	153593776		2026	4158	6184	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1508T>A	X.37:g.153593776A>T	ENSP00000358866:p.Phe503Tyr		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471267	0.43942	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.44	4.44	0.53790	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.97579	0.9207	H	0.97516	4.02	0.80722	D	1	B;P	0.51057	0.096;0.941	B;P	0.61940	0.042;0.896	D	0.98383	1.0559	10	0.87932	D	0	.	13.0106	0.58729	1.0:0.0:0.0:0.0	.	503;503	P21333-2;P21333	.;FLNA_HUMAN	Y	503;476;503;503;503	ENSP00000353467:F503Y;ENSP00000416926:F503Y;ENSP00000358866:F503Y;ENSP00000358863:F503Y	ENSP00000358863:F503Y	F	-	2	0	FLNA	153246970	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.336000	0.96533	1.438000	0.47492	0.438000	0.28831	TTC		0.672	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	103	9	103
APOB	338	broad.mit.edu;ucsc.edu	37	2	21227213	21227213	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	ENST00000233242.1	-	28	12142	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4005					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGTGCCTACGGCTGGGGAGG	0.507																																																0													100.0	99.0	99.0					2																	21227213		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12015C>T	2.37:g.21227213G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			38	40	38	40
MYH2	4620	broad.mit.edu;ucsc.edu	37	17	10432336	10432336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	ENST00000245503.5	-	27	3799	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1139					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582																																																0													43.0	50.0	48.0					17																	10432336		2202	4294	6496	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3415G>A	17.37:g.10432336C>T	ENSP00000245503:p.Glu1139Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190151	0.94923	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85339	-1.97;-1.97	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.95806	0.8635	H	0.98276	4.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97451	1.0028	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1139	Q9UKX2	MYH2_HUMAN	K	1139	ENSP00000245503:E1139K;ENSP00000380367:E1139K	ENSP00000245503:E1139K	E	-	1	0	MYH2	10373061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	GAG		0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		33	74	33	74
KRT16P2	400578	broad.mit.edu;ucsc.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																																1	Substitution - Missense(1)	endometrium(1)																																										400578					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T				RNA	SNP	ENST00000579062.1	37																																																																																					0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		6	53	6	53
ZNF292	23036	broad.mit.edu;hgsc.bcm.edu	37	6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	ENST00000369577.3	+	8	3072_3073	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1010						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356																																																0																																										SO:0001589	frameshift_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3029_3030delCT	6.37:g.87966378_87966379delCT	ENSP00000358590:p.Thr1010fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	CCDS47457.1																																																																																				0.356	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	28	11	28
SPDYE1	285955	broad.mit.edu;hgsc.bcm.edu	37	7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	CT	-	rs375455660		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	ENST00000258704.3	+	2	508_509	c.371_372delCT	c.(370-372)cctfs	p.P124fs	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614																																																0																																										SO:0001589	frameshift_variant	285955			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.371_372delCT	7.37:g.44042300_44042301delCT	ENSP00000258704:p.Pro124fs		Q9NTH5	Frame_Shift_Del	DEL	ENST00000258704.3	37	CCDS5475.1																																																																																				0.614	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		19	50	19	50
GNAI1	2770	broad.mit.edu;hgsc.bcm.edu	37	7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	ENST00000351004.3	+	8	1433_1434	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342																																																0																																										SO:0001589	frameshift_variant	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.1060_1061delTT	7.37:g.79846806_79846807delTT	ENSP00000343027:p.Phe354fs		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	CCDS5595.1																																																																																				0.342	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		13	28	13	28
NOTCH1	4851	broad.mit.edu;hgsc.bcm.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)																																								SO:0001651	inframe_deletion	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	20	10	20
ANO9	338440	broad.mit.edu;hgsc.bcm.edu	37	11	418481	418483	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	ENST00000332826.6	-	23	2321_2323	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000332725.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	746					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621																																																0																																										SO:0001651	inframe_deletion	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2237_2239delAGA	11.37:g.418484_418486delTCT	ENSP00000332788:p.Lys746del		B3KUC4|B4E134|Q8TEN4	In_Frame_Del	DEL	ENST00000332826.6	37	CCDS31326.1																																																																																				0.621	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		51	105	51	105
CLUH	23277	broad.mit.edu;hgsc.bcm.edu	37	17	2601759	2601761	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:2601759_2601761delGAA	ENST00000570628.2	-	10	1381_1383	c.1276_1278delTTC	c.(1276-1278)ttcdel	p.F426del	CLUH_ENST00000435359.1_In_Frame_Del_p.F426del|CLUH_ENST00000538975.1_In_Frame_Del_p.F426del			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	426					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											AGCCCAGGCTGAAGAAGATGTTG	0.611																																																0																																										SO:0001651	inframe_deletion	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1276_1278delTTC	17.37:g.2601762_2601764delGAA	ENSP00000458986:p.Phe426del		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	In_Frame_Del	DEL	ENST00000570628.2	37	CCDS45572.1																																																																																				0.611	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	48	11	48
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	ENST00000575354.2	+	17	4093_4094	c.4053_4054delAG	c.(4051-4056)tcagaafs	p.E1352fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.E1350fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.E2258fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1352					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)				GGGTCCTGTCAGAAGTGGACTT	0.678			"""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.4053_4054delAG	19.37:g.42798099_42798100delAG	ENSP00000458663:p.Glu1352fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.678	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			64	73	64	73
NKX2-2	4821	broad.mit.edu;hgsc.bcm.edu	37	20	21492574	21492574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	ENST00000377142.4	-	2	1165	c.809delA	c.(808-810)cagfs	p.Q270fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	270					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706																																																0													24.0	28.0	27.0					20																	21492574		2131	4213	6344	SO:0001589	frameshift_variant	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.809delA	20.37:g.21492574delT	ENSP00000366347:p.Gln270fs			Frame_Shift_Del	DEL	ENST00000377142.4	37	CCDS13145.1																																																																																				0.706	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			34	36	34	36
BCOR	54880	broad.mit.edu;hgsc.bcm.edu	37	X	39932365	39932366	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	ENST00000378444.4	-	4	2461_2462	c.2233_2234delAG	c.(2233-2235)aggfs	p.R746fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	746					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGGATCTCCTCTCTGGTTTC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2233_2234delAG	X.37:g.39932369_39932370delCT	ENSP00000367705:p.Arg746fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		53	131	53	131
