#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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
SRRM1	10250	broad.mit.edu	37	1	24989267	24989267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:24989267C>T	ENST00000323848.9	+	12	1915	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Nonsense_Mutation_p.R529*|SRRM1_ENST00000447431.2_Nonsense_Mutation_p.R532*|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	534	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R534*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCATCACCACGAAAGCGCCA	0.473																																					Ovarian(68;897 1494 3282 17478)											1	Substitution - Nonsense(1)	ovary(1)	1											107.0	98.0	101.0					1																	24989267		2203	4300	6503	24861854	SO:0001587	stop_gained	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1600C>T	1.37:g.24989267C>T	ENSP00000326261:p.Arg534*		24861854	O60585|Q5VVN4	Nonsense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	40	8.324184	0.98759	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	.	.	.	5.41	2.34	0.29019	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1198	14.4016	0.67050	0.3869:0.6131:0.0:0.0	.	.	.	.	X	534;532;529	.	ENSP00000326261:R534X	R	+	1	2	SRRM1	24861854	0.999000	0.42202	0.999000	0.59377	0.986000	0.74619	2.237000	0.43061	0.277000	0.22141	-0.182000	0.12963	CGA		0.473	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
THRAP3	9967	broad.mit.edu	37	1	36758206	36758206	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:36758206C>A	ENST00000354618.5	+	7	2150	c.1926C>A	c.(1924-1926)caC>caA	p.H642Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.H642Q|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	642	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.H642Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGAGCATCACTTTGGGTCCT	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											188.0	190.0	189.0					1																	36758206		2203	4300	6503	36530793	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1926C>A	1.37:g.36758206C>A	ENSP00000346634:p.His642Gln		36530793	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742243	0.69418	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16324	2.35;2.35	5.22	4.29	0.51040	.	0.132701	0.52532	D	0.000074	T	0.35624	0.0938	M	0.68952	2.095	0.58432	D	0.999992	D	0.71674	0.998	D	0.69479	0.964	T	0.04708	-1.0932	10	0.72032	D	0.01	-6.0117	10.2489	0.43358	0.0:0.8434:0.0:0.1566	.	642	Q9Y2W1	TR150_HUMAN	Q	642	ENSP00000346634:H642Q;ENSP00000433825:H642Q	ENSP00000346634:H642Q	H	+	3	2	THRAP3	36530793	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.700000	0.25601	2.608000	0.88229	0.555000	0.69702	CAC		0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
MTF2	22823	broad.mit.edu	37	1	93580643	93580643	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:93580643A>C	ENST00000370298.4	+	5	770	c.481A>C	c.(481-483)Aag>Cag	p.K161Q	MTF2_ENST00000370303.4_Missense_Mutation_p.K161Q|MTF2_ENST00000545708.1_Missense_Mutation_p.K59Q|MTF2_ENST00000540243.1_Missense_Mutation_p.K59Q|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	161					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K161Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AACAACAACAAAGGTATATTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											88.0	84.0	85.0					1																	93580643		2203	4300	6503	93353231	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.481A>C	1.37:g.93580643A>C	ENSP00000359321:p.Lys161Gln		93353231	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011006	0.75046	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.35	5.35	0.76521	Zinc finger, FYVE/PHD-type (1);	0.044063	0.85682	D	0.000000	D	0.92831	0.7720	M	0.78637	2.42	0.80722	D	1	D;P	0.76494	0.999;0.757	D;B	0.73380	0.98;0.418	D	0.92890	0.6330	10	0.46703	T	0.11	-7.0074	15.3456	0.74334	1.0:0.0:0.0:0.0	.	161;161	B1AKT6;Q9Y483	.;MTF2_HUMAN	Q	59;59;161;59;161	ENSP00000444962:K59Q;ENSP00000443295:K59Q;ENSP00000359321:K161Q;ENSP00000359326:K161Q	ENSP00000359321:K161Q	K	+	1	0	MTF2	93353231	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.691000	0.68249	2.023000	0.59567	0.533000	0.62120	AAG		0.353	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
COL11A1	1301	broad.mit.edu	37	1	103404627	103404627	+	Silent	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:103404627C>T	ENST00000370096.3	-	44	3714	c.3402G>A	c.(3400-3402)ccG>ccA	p.P1134P	COL11A1_ENST00000353414.4_Silent_p.P1095P|COL11A1_ENST00000358392.2_Silent_p.P1146P|COL11A1_ENST00000512756.1_Silent_p.P1018P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1134	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1146P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTGTCCCGGCTCACCAA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	1											142.0	144.0	143.0					1																	103404627		2203	4300	6503	103177215	SO:0001819	synonymous_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3402G>A	1.37:g.103404627C>T			103177215	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
CELSR2	1952	broad.mit.edu	37	1	109794172	109794172	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:109794172G>C	ENST00000271332.3	+	1	1532	c.1471G>C	c.(1471-1473)Gtg>Ctg	p.V491L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V491L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTGGCTTGGTGACAGTACA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	ovary(1)	1											171.0	153.0	159.0					1																	109794172		2203	4300	6503	109595695	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1471G>C	1.37:g.109794172G>C	ENSP00000271332:p.Val491Leu		109595695	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	12.70	2.017886	0.35606	.	.	ENSG00000143126	ENST00000271332	T	0.64803	-0.12	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70448	0.3225	M	0.65677	2.01	0.53005	D	0.999966	P	0.51147	0.942	D	0.64687	0.928	T	0.66019	-0.6027	9	0.28530	T	0.3	.	18.1629	0.89716	0.0:0.0:1.0:0.0	.	491	Q9HCU4	CELR2_HUMAN	L	491	ENSP00000271332:V491L	ENSP00000271332:V491L	V	+	1	0	CELSR2	109595695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.601000	0.98297	2.543000	0.85770	0.555000	0.69702	GTG		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
OR11L1	391189	broad.mit.edu	37	1	248005089	248005089	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:248005089A>T	ENST00000355784.2	-	1	165	c.110T>A	c.(109-111)cTg>cAg	p.L37Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	37						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TATAATGGTCAGGCAGTAGAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											71.0	62.0	65.0					1																	248005089		2203	4300	6503	246071712	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.110T>A	1.37:g.248005089A>T	ENSP00000348033:p.Leu37Gln		246071712		Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	A	9.254	1.041600	0.19669	.	.	ENSG00000197591	ENST00000355784	T	0.00453	7.33	4.2	4.2	0.49525	.	0.000000	0.32578	U	0.005916	T	0.01287	0.0042	M	0.92507	3.315	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.26360	-1.0105	10	0.72032	D	0.01	.	6.7874	0.23682	0.8198:0.0:0.1802:0.0	.	37	Q8NGX0	O11L1_HUMAN	Q	37	ENSP00000348033:L37Q	ENSP00000348033:L37Q	L	-	2	0	OR11L1	246071712	0.013000	0.17824	0.073000	0.20177	0.048000	0.14542	2.693000	0.47027	1.889000	0.54706	0.443000	0.29094	CTG		0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959	
FAM21A	387680	broad.mit.edu	37	10	51889204	51889204	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr10:51889204G>A	ENST00000282633.5	+	29	3158	c.3113G>A	c.(3112-3114)cGt>cAt	p.R1038H	FAM21A_ENST00000314664.7_Missense_Mutation_p.R976H|FAM21A_ENST00000399339.2_Missense_Mutation_p.R950H|FAM21A_ENST00000351071.6_Missense_Mutation_p.R1017H	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1038					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.R1038H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AGAGGGAAGCGTAGACCGCAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											43.0	34.0	37.0					10																	51889204		1522	3040	4562	51559210	SO:0001583	missense	55747			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3113G>A	10.37:g.51889204G>A	ENSP00000282633:p.Arg1038His		51559210	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	g	19.03	3.747754	0.69533	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.998	T	0.81669	-0.0828	9	0.87932	D	0	-8.7047	12.3184	0.54971	0.0:0.0:1.0:0.0	.	976;1017;950;1038;932	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	H	1017;976;932;1038;950	.	ENSP00000282633:R1038H	R	+	2	0	FAM21A	51559210	1.000000	0.71417	0.999000	0.59377	0.509000	0.34042	8.505000	0.90515	2.011000	0.59026	0.184000	0.17185	CGT		0.522	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751	
OR4C12	283093	broad.mit.edu	37	11	50003470	50003470	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:50003470T>G	ENST00000335238.4	-	1	601	c.568A>C	c.(568-570)Act>Cct	p.T190P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T190P(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGGTATGAGTGTCTATGCAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											103.0	102.0	102.0					11																	50003470		2201	4296	6497	49960046	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.568A>C	11.37:g.50003470T>G	ENSP00000334418:p.Thr190Pro		49960046	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491060	0.44249	.	.	ENSG00000221954	ENST00000335238	T	0.00245	8.45	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000593	T	0.00524	0.0017	M	0.83223	2.63	0.31050	N	0.715351	D	0.76494	0.999	D	0.80764	0.994	T	0.20306	-1.0279	10	0.87932	D	0	.	9.5014	0.39019	0.0:0.0:0.0:1.0	.	190	Q96R67	OR4CC_HUMAN	P	190	ENSP00000334418:T190P	ENSP00000334418:T190P	T	-	1	0	OR4C12	49960046	0.988000	0.35896	0.841000	0.33234	0.563000	0.35712	2.813000	0.48002	1.387000	0.46486	0.325000	0.21440	ACT		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR5M3	219482	broad.mit.edu	37	11	56237479	56237479	+	Silent	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:56237479G>A	ENST00000312240.2	-	1	535	c.495C>T	c.(493-495)taC>taT	p.Y165Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y165Y(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCACAGAAGTACAAGCCGT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	11											108.0	98.0	101.0					11																	56237479		2201	4295	6496	55994055	SO:0001819	synonymous_variant	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.495C>T	11.37:g.56237479G>A			55994055	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																				0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
CASP5	838	broad.mit.edu	37	11	104877810	104877810	+	Splice_Site	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:104877810G>A	ENST00000260315.3	-	3	432	c.433C>T	c.(433-435)Cct>Tct	p.P145S	CASP5_ENST00000393141.2_Splice_Site_p.P158S|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Splice_Site_p.P158S|CASP5_ENST00000444749.2_Splice_Site_p.P87S|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Splice_Site_p.H112Y			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	145	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.P129S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAACCTTACGTTTTACACTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											175.0	176.0	176.0					11																	104877810		2201	4299	6500	104383020	SO:0001630	splice_region_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.433+1C>T	11.37:g.104877810G>A			104383020	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.302|3.302	-0.142763|-0.142763	0.06669|0.06669	.|.	.|.	ENSG00000137757|ENSG00000137757	ENST00000393139|ENST00000393141;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	T|T;T;T;T;T	0.23348|0.09817	1.91|4.71;4.72;4.6;4.71;2.94	3.71|3.71	0.818|0.818	0.18778|0.18778	.|DEATH-like (1);Caspase Recruitment (1);	.|0.436210	.|0.23629	.|N	.|0.046151	T|T	0.02688|0.02688	0.0081|0.0081	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.005;0.006	.|B;B;B	.|0.09377	.|0.001;0.004;0.003	T|T	0.41360|0.41360	-0.9513|-0.9513	6|9	.|.	.|.	.|.	.|.	2.4859|2.4859	0.04598|0.04598	0.1901:0.5059:0.1966:0.1074|0.1901:0.5059:0.1966:0.1074	.|.	.|87;145;158	.|P51878-2;P51878;P51878-5	.|.;CASP5_HUMAN;.	Y|S	112|158;145;87;158;129	ENSP00000376847:H112Y|ENSP00000376849:P158S;ENSP00000260315:P145S;ENSP00000388365:P87S;ENSP00000436877:P158S;ENSP00000415241:P129S	.|.	H|P	-|-	1|1	0|0	CASP5|CASP5	104383020|104383020	0.773000|0.773000	0.28580|0.28580	0.247000|0.247000	0.24249|0.24249	0.000000|0.000000	0.00434|0.00434	0.075000|0.075000	0.14686|0.14686	0.196000|0.196000	0.20367|0.20367	-2.495000|-2.495000	0.00193|0.00193	CAT|CCT		0.393	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	Missense_Mutation
DPAGT1	1798	broad.mit.edu	37	11	118971415	118971415	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:118971415A>G	ENST00000409993.2	-	5	1972	c.421T>C	c.(421-423)Ttc>Ctc	p.F141L	DPAGT1_ENST00000354202.4_Missense_Mutation_p.F141L|DPAGT1_ENST00000432443.2_Missense_Mutation_p.F34L|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	141					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.F141L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAGTTGGTGAAATAGACCATG	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											75.0	60.0	65.0					11																	118971415		2200	4295	6495	118476625	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.421T>C	11.37:g.118971415A>G	ENSP00000386597:p.Phe141Leu	1492	118476625	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311182	0.81358	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91894	-2.93;-2.93;-2.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.28556	0.865	0.80722	D	1	B;B	0.15141	0.011;0.012	B;B	0.21360	0.034;0.034	D	0.83611	0.0134	10	0.41790	T	0.15	-25.9921	14.8174	0.70045	1.0:0.0:0.0:0.0	.	34;141	E7EW40;Q9H3H5	.;GPT_HUMAN	L	141;141;34	ENSP00000386597:F141L;ENSP00000346142:F141L;ENSP00000404036:F34L	ENSP00000346142:F141L	F	-	1	0	DPAGT1	118476625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.090000	0.63153	0.460000	0.39030	TTC		0.552	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
CBL	867	broad.mit.edu	37	11	119148471	119148471	+	Silent	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:119148471T>C	ENST00000264033.4	+	7	1388	c.1012T>C	c.(1012-1014)Ttg>Ctg	p.L338L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	338	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L338L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTACAGCTATTTGTTTCCTGA	0.403			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																														"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Substitution - coding silent(1)	ovary(1)	11											88.0	84.0	85.0					11																	119148471		2199	4295	6494	118653681	SO:0001819	synonymous_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1012T>C	11.37:g.119148471T>C			118653681	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				0.403	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
EPS8	2059	broad.mit.edu	37	12	15818705	15818705	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr12:15818705C>G	ENST00000281172.5	-	8	1157	c.721G>C	c.(721-723)Gcc>Ccc	p.A241P	EPS8_ENST00000543612.1_Missense_Mutation_p.A241P|EPS8_ENST00000543523.1_Missense_Mutation_p.A241P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	241					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.A241P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTTGGTCGGCTGCCCATGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	12											44.0	46.0	45.0					12																	15818705		2203	4300	6503	15709972	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.721G>C	12.37:g.15818705C>G	ENSP00000281172:p.Ala241Pro		15709972	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058574	0.36277	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223	T;T;T	0.06687	3.27;3.27;3.27	5.62	3.62	0.41486	.	0.404576	0.27181	N	0.020553	T	0.09818	0.0241	L	0.34521	1.04	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.33137	-0.9880	10	0.19590	T	0.45	-10.8651	10.1683	0.42893	0.375:0.5025:0.1225:0.0	.	241	Q12929	EPS8_HUMAN	P	241	ENSP00000441867:A241P;ENSP00000281172:A241P;ENSP00000442388:A241P	ENSP00000281172:A241P	A	-	1	0	EPS8	15709972	0.928000	0.31464	1.000000	0.80357	0.987000	0.75469	1.069000	0.30641	1.303000	0.44873	0.591000	0.81541	GCC		0.522	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
KIF21A	55605	broad.mit.edu	37	12	39734074	39734074	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr12:39734074G>A	ENST00000361418.5	-	16	2218	c.2203C>T	c.(2203-2205)Ctt>Ttt	p.L735F	KIF21A_ENST00000361961.3_Missense_Mutation_p.L722F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L722F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L722F|KIF21A_ENST00000395670.3_Missense_Mutation_p.L735F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	735					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L722F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTGCTTGAAGTCTCTGCAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	12											122.0	106.0	111.0					12																	39734074		2203	4297	6500	38020341	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2203C>T	12.37:g.39734074G>A	ENSP00000354878:p.Leu735Phe		38020341	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286887	0.80803	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.22	4.33	0.51752	.	0.000000	0.47852	D	0.000214	T	0.44932	0.1317	M	0.72894	2.215	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.986;0.997;0.999	T	0.41342	-0.9514	10	0.52906	T	0.07	.	13.7255	0.62756	0.0741:0.0:0.9259:0.0	.	722;722;735;722;735	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	F	722;735;735;722;735;722	ENSP00000354851:L722F;ENSP00000379029:L735F;ENSP00000445606:L722F;ENSP00000354878:L735F;ENSP00000438075:L722F	ENSP00000344501:L735F	L	-	1	0	KIF21A	38020341	1.000000	0.71417	0.970000	0.41538	0.977000	0.68977	6.449000	0.73473	1.204000	0.43247	0.655000	0.94253	CTT		0.358	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KIAA1024	23251	broad.mit.edu	37	15	79749909	79749909	+	Missense_Mutation	SNP	G	G	A	rs147416682	byFrequency	TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr15:79749909G>A	ENST00000305428.3	+	2	1495	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	474						integral component of membrane (GO:0016021)		p.V474M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CACCAGTAGCGTGGGCACCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	15						G	MET/VAL	1,4391	2.1+/-5.4	0,1,2195	69.0	63.0	65.0		1420	5.2	1.0	15	dbSNP_134	65	2,8584	2.2+/-6.3	0,2,4291	yes	missense	KIAA1024	NM_015206.2	21	0,3,6486	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	474/917	79749909	3,12975	2196	4293	6489	77536964	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1420G>A	15.37:g.79749909G>A	ENSP00000307461:p.Val474Met		77536964	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858006	0.51376	2.28E-4	2.33E-4	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.24	5.24	0.73138	.	0.202473	0.43260	D	0.000595	T	0.59865	0.2225	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.58612	-0.7606	9	.	.	.	.	18.8071	0.92041	0.0:0.0:1.0:0.0	.	474	Q9UPX6	K1024_HUMAN	M	474	ENSP00000307461:V474M	.	V	+	1	0	KIAA1024	77536964	1.000000	0.71417	0.992000	0.48379	0.193000	0.23685	6.858000	0.75461	2.440000	0.82611	0.491000	0.48974	GTG		0.537	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
DNAJA3	9093	broad.mit.edu	37	16	4493163	4493163	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr16:4493163C>T	ENST00000262375.6	+	6	1006	c.929C>T	c.(928-930)gCa>gTa	p.A310V	DNAJA3_ENST00000431375.2_Missense_Mutation_p.A157V|DNAJA3_ENST00000355296.4_Missense_Mutation_p.A310V	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	310					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.A310V(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCTGTGCCTGCAGGTGGGTGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											64.0	53.0	56.0					16																	4493163		2197	4300	6497	4433164	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.929C>T	16.37:g.4493163C>T	ENSP00000262375:p.Ala310Val		4433164	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469121	0.96274	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.68181	-0.31;-0.3;0.65	5.6	5.6	0.85130	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	H	0.95437	3.67	0.80722	D	1	B;D;D	0.89917	0.041;1.0;1.0	B;D;D	0.83275	0.038;0.996;0.983	D	0.90536	0.4499	10	0.66056	D	0.02	-17.5732	18.9718	0.92718	0.0:1.0:0.0:0.0	.	157;310;310	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	V	310;310;157	ENSP00000262375:A310V;ENSP00000347445:A310V;ENSP00000393970:A157V	ENSP00000262375:A310V	A	+	2	0	DNAJA3	4433164	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.761000	0.85260	2.795000	0.96236	0.643000	0.83706	GCA		0.622	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1		
PRR11	55771	broad.mit.edu	37	17	57278973	57278973	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr17:57278973G>A	ENST00000262293.4	+	10	1376	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	CTD-2510F5.6_ENST00000577660.1_Intron|CTD-2510F5.4_ENST00000577678.1_RNA	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	355						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S355N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTACAAGCAGCTTTGATGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	17											99.0	94.0	96.0					17																	57278973		2203	4300	6503	54633755	SO:0001583	missense	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.1064G>A	17.37:g.57278973G>A	ENSP00000262293:p.Ser355Asn		54633755	Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316336	0.40996	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.58	1.34	0.21922	.	0.309163	0.32161	N	0.006481	T	0.44393	0.1291	L	0.35723	1.085	0.36286	D	0.856077	B	0.13594	0.008	B	0.12156	0.007	T	0.41556	-0.9502	9	0.54805	T	0.06	-0.276	9.9481	0.41623	0.2788:0.0:0.7212:0.0	.	355	Q96HE9	PRR11_HUMAN	N	355	.	ENSP00000262293:S355N	S	+	2	0	PRR11	54633755	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.312000	0.43726	0.044000	0.15775	-0.258000	0.10820	AGC		0.408	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304	
BRIP1	83990	broad.mit.edu	37	17	59853910	59853910	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr17:59853910G>A	ENST00000259008.2	-	14	2216	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.T650I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	650					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T650I(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGACCCAATGGTACCAACCCA	0.388			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	1	Substitution - Missense(1)	ovary(1)	17											112.0	111.0	111.0					17																	59853910		2203	4300	6503	57208692	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1949C>T	17.37:g.59853910G>A	ENSP00000259008:p.Thr650Ile		57208692	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689852	0.88735	.	.	ENSG00000136492	ENST00000259008	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78265	-0.2271	9	.	.	.	-9.7187	18.8092	0.92052	0.0:0.0:1.0:0.0	.	650;650	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	I	650	ENSP00000259008:T650I	.	T	-	2	0	BRIP1	57208692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.683000	0.91414	0.655000	0.94253	ACC		0.388	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
MUC16	94025	broad.mit.edu	37	19	9018494	9018494	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:9018494G>T	ENST00000397910.4	-	24	37883	c.37680C>A	c.(37678-37680)gaC>gaA	p.D12560E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12562	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCGATGCATGTCCTCCTCAT	0.537																																																0			19											234.0	200.0	211.0					19																	9018494		2009	4189	6198	8879494	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37680C>A	19.37:g.9018494G>T	ENSP00000381008:p.Asp12560Glu		8879494	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	5.444	0.267050	0.10294	.	.	ENSG00000181143	ENST00000397910	T	0.55588	0.51	2.01	-1.47	0.08772	.	.	.	.	.	T	0.55986	0.1955	M	0.84326	2.69	.	.	.	D	0.64830	0.994	P	0.48598	0.583	T	0.60682	-0.7215	8	0.87932	D	0	.	5.1154	0.14831	0.4775:0.0:0.5225:0.0	.	12560	B5ME49	.	E	12560	ENSP00000381008:D12560E	ENSP00000381008:D12560E	D	-	3	2	MUC16	8879494	0.012000	0.17670	0.003000	0.11579	0.150000	0.21749	-0.538000	0.06120	-0.304000	0.08843	0.195000	0.17529	GAC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF91	7644	broad.mit.edu	37	19	23545420	23545420	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:23545420G>T	ENST00000300619.7	-	4	566	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	ZNF91_ENST00000397082.2_Missense_Mutation_p.Q89K|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q121K(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTTAACTGTAAATTCTCA	0.358																																																1	Substitution - Missense(1)	ovary(1)	19											66.0	69.0	68.0					19																	23545420		2122	4266	6388	23337260	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.361C>A	19.37:g.23545420G>T	ENSP00000300619:p.Gln121Lys		23337260	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.219526	0.00286	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05319	3.55;3.46	0.987	-1.05	0.10036	.	.	.	.	.	T	0.10078	0.0247	M	0.80982	2.52	0.09310	N	1	B;P	0.43352	0.232;0.804	B;P	0.46510	0.07;0.519	T	0.28776	-1.0033	9	0.15499	T	0.54	.	3.3973	0.07311	0.0:0.0:0.5482:0.4518	.	89;121	Q05481-2;Q05481	.;ZNF91_HUMAN	K	121;89	ENSP00000300619:Q121K;ENSP00000380272:Q89K	ENSP00000300619:Q121K	Q	-	1	0	ZNF91	23337260	0.001000	0.12720	0.007000	0.13788	0.597000	0.36814	-0.381000	0.07417	0.436000	0.26393	0.174000	0.16983	CAG		0.358	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF285	26974	broad.mit.edu	37	19	44890755	44890755	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:44890755C>T	ENST00000330997.4	-	4	1716	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.R551H|ZNF285_ENST00000591679.1_Missense_Mutation_p.R558H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTATGAATTACGACTGAAGCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	19											129.0	110.0	117.0					19																	44890755		2203	4296	6499	49582595	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1652G>A	19.37:g.44890755C>T	ENSP00000333595:p.Arg551His		49582595	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544817	0.45280	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05580	3.42	3.74	-4.14	0.03892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.16233	0.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.47724	-0.9095	9	0.15499	T	0.54	.	10.8854	0.46964	0.0:0.2982:0.0:0.7018	.	575;551	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	H	574;551	ENSP00000333595:R551H	ENSP00000333595:R551H	R	-	2	0	ZNF285	49582595	0.001000	0.12720	0.008000	0.14137	0.784000	0.44337	0.878000	0.28126	-0.568000	0.06038	0.454000	0.30748	CGT		0.458	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
MYBPC2	4606	broad.mit.edu	37	19	50958433	50958433	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:50958433G>A	ENST00000357701.5	+	19	2134	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	695	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E695K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGTCTTCACAGAGACCACCTA	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											87.0	90.0	89.0					19																	50958433		2017	4186	6203	55650245	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2083G>A	19.37:g.50958433G>A	ENSP00000350332:p.Glu695Lys		55650245	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.760138	0.49468	.	.	ENSG00000086967	ENST00000357701	T	0.58797	0.31	4.07	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.922450	0.04579	U	0.394648	T	0.52256	0.1723	L	0.33137	0.985	0.23449	N	0.997659	B	0.09022	0.002	B	0.15052	0.012	T	0.34725	-0.9817	10	0.23302	T	0.38	.	15.3857	0.74699	0.0:0.0:1.0:0.0	.	695	Q14324	MYPC2_HUMAN	K	695	ENSP00000350332:E695K	ENSP00000350332:E695K	E	+	1	0	MYBPC2	55650245	1.000000	0.71417	0.936000	0.37596	0.653000	0.38743	4.309000	0.59135	1.996000	0.58369	0.461000	0.40582	GAG		0.547	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
KCNH7	90134	broad.mit.edu	37	2	163279946	163279946	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:163279946T>C	ENST00000332142.5	-	9	2153	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	KCNH7_ENST00000328032.4_Missense_Mutation_p.E678G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	685					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E685G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCGAATGAACTCTTTTACTCG	0.443																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	ovary(1)	2											241.0	224.0	229.0					2																	163279946		2203	4300	6503	162988192	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2054A>G	2.37:g.163279946T>C	ENSP00000331727:p.Glu685Gly		162988192	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997727	0.93227	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96830	-4.14;-4.14	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.96	D	0.99445	1.0939	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	678;685	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	G	685;678	ENSP00000331727:E685G;ENSP00000333781:E678G	ENSP00000333781:E678G	E	-	2	0	KCNH7	162988192	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GAG		0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
GRB14	2888	broad.mit.edu	37	2	165476321	165476321	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:165476321T>A	ENST00000263915.3	-	2	738	c.200A>T	c.(199-201)aAg>aTg	p.K67M		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	67					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											134.0	138.0	137.0					2																	165476321		2203	4300	6503	165184567	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.200A>T	2.37:g.165476321T>A	ENSP00000263915:p.Lys67Met		165184567	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904754	0.33628	.	.	ENSG00000115290	ENST00000263915;ENST00000446413;ENST00000424693	T;T;T	0.46819	1.87;1.45;0.86	5.31	2.87	0.33458	.	0.301451	0.28515	N	0.015075	T	0.31071	0.0785	N	0.22421	0.69	0.80722	D	1	B	0.13145	0.007	B	0.17979	0.02	T	0.07139	-1.0788	10	0.56958	D	0.05	-0.5728	7.1349	0.25523	0.1457:0.0:0.1527:0.7016	.	67	Q14449	GRB14_HUMAN	M	67;22;9	ENSP00000263915:K67M;ENSP00000416786:K22M;ENSP00000401702:K9M	ENSP00000263915:K67M	K	-	2	0	GRB14	165184567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.359000	0.44142	0.305000	0.22832	0.533000	0.62120	AAG		0.368	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
SCN1A	6323	broad.mit.edu	37	2	166892744	166892744	+	Silent	SNP	T	T	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:166892744T>A	ENST00000303395.4	-	16	3242	c.3243A>T	c.(3241-3243)ggA>ggT	p.G1081G	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1070G|SCN1A_ENST00000409050.1_Silent_p.G1053G|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Silent_p.G1081G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1081					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G1070G(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTTGTAGTTCCATTTACAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	2											173.0	163.0	167.0					2																	166892744		2203	4300	6503	166600990	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3243A>T	2.37:g.166892744T>A			166600990	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
TTN	7273	broad.mit.edu	37	2	179429213	179429213	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:179429213G>A	ENST00000591111.1	-	276	76947	c.76723C>T	c.(76723-76725)Cgc>Tgc	p.R25575C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276C|TTN_ENST00000460472.2_Missense_Mutation_p.R18151C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648C			Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18151C(2)|p.R24646C(2)|p.R18343C(1)|p.R18276C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCCAGCGGCCATCAGGT	0.368																																																6	Substitution - Missense(6)	large_intestine(4)|ovary(2)	2											71.0	67.0	68.0					2																	179429213		1864	4107	5971	179137459	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76723C>T	2.37:g.179429213G>A	ENSP00000465570:p.Arg25575Cys		179137459	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.36	2.213698	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79546	-0.1759	9	0.87932	D	0	.	17.1823	0.86858	0.0:0.0:0.8731:0.1269	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24648;18151;18343;18276;18149	ENSP00000343764:R24648C;ENSP00000434586:R18151C;ENSP00000340554:R18343C;ENSP00000352154:R18276C	ENSP00000340554:R18343C	R	-	1	0	TTN	179137459	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.807000	0.99171	1.597000	0.50072	0.650000	0.86243	CGC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SP140	11262	broad.mit.edu	37	2	231149125	231149125	+	Splice_Site	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:231149125T>C	ENST00000392045.3	+	16	1677	c.1563T>C	c.(1561-1563)aaT>aaC	p.N521N	SP140_ENST00000417495.3_Splice_Site_p.N407N|SP140_ENST00000420434.3_Splice_Site_p.N494N|SP140_ENST00000486687.2_Splice_Site_p.N445N|SP140_ENST00000343805.6_Splice_Site_p.N461N|SP140_ENST00000350136.5_Splice_Site_p.N390N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	521					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N521N(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCCAACAAAATGGTAAGCAGG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											103.0	116.0	112.0					2																	231149125		1906	4117	6023	230857369	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1564+1T>C	2.37:g.231149125T>C			230857369	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.433	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	Silent
CSRP2BP	57325	broad.mit.edu	37	20	18165251	18165251	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:18165251G>C	ENST00000435364.3	+	9	2331	c.1990G>C	c.(1990-1992)Gac>Cac	p.D664H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D536H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.D663H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	664	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.D664H(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTAGGCATTGACCTGTCTGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	20											196.0	173.0	181.0					20																	18165251		2203	4300	6503	18113251	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1990G>C	20.37:g.18165251G>C	ENSP00000392318:p.Asp664His		18113251	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864412	0.91511	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.69	5.69	0.88448	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.75880	-0.3161	10	0.87932	D	0	-13.8356	19.8165	0.96571	0.0:0.0:1.0:0.0	.	536;664	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	664;663;664;536	ENSP00000278816:D664H;ENSP00000366909:D663H;ENSP00000392318:D664H;ENSP00000425909:D536H	ENSP00000278816:D664H	D	+	1	0	CSRP2BP	18113251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.683000	0.91414	0.655000	0.94253	GAC		0.408	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
BCAS4	55653	broad.mit.edu	37	20	49493134	49493134	+	3'UTR	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:49493134C>T	ENST00000358791.5	+	0	798				BCAS4_ENST00000609336.1_3'UTR|BCAS4_ENST00000371608.2_Missense_Mutation_p.R201W|BCAS4_ENST00000262591.5_Missense_Mutation_p.R156W	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4							cytoplasm (GO:0005737)		p.R201W(1)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CACCTGCCCTCGGCCTTTGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											63.0	65.0	64.0					20																	49493134		2203	4300	6503	48926541	SO:0001624	3_prime_UTR_variant	55653			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.*62C>T	20.37:g.49493134C>T			48926541	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	CCDS33487.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939856	0.34189	.	.	ENSG00000124243	ENST00000262591;ENST00000371608	T;T	0.56103	0.48;0.56	3.19	-5.05	0.02955	.	.	.	.	.	T	0.29256	0.0728	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20940	-1.0260	9	0.72032	D	0.01	.	1.1729	0.01829	0.4422:0.2493:0.1316:0.1768	.	201	Q8TDM0-3	.	W	156;201	ENSP00000262591:R156W;ENSP00000360669:R201W	ENSP00000262591:R156W	R	+	1	2	BCAS4	48926541	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.520000	0.02241	-1.140000	0.02877	0.491000	0.48974	CGG		0.547	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843	
FAM217B	63939	broad.mit.edu	37	20	58519845	58519845	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:58519845A>T	ENST00000358293.3	+	5	1262	c.847A>T	c.(847-849)Agg>Tgg	p.R283W	FAM217B_ENST00000360816.3_Missense_Mutation_p.R283W|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	283								p.R283W(1)									TTGTTCTCAGAGGCAAACCCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											63.0	64.0	63.0					20																	58519845		2203	4300	6503	57953240	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.847A>T	20.37:g.58519845A>T	ENSP00000351040:p.Arg283Trp		57953240	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296389	0.40594	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.27402	1.67;1.67	5.44	2.0	0.26442	.	0.517494	0.17639	N	0.167085	T	0.23886	0.0578	N	0.14661	0.345	0.21020	N	0.999802	D	0.55800	0.973	P	0.52424	0.698	T	0.06356	-1.0831	10	0.87932	D	0	-10.4411	5.5494	0.17081	0.648:0.1353:0.2167:0.0	.	283	Q9NTX9	CT177_HUMAN	W	283	ENSP00000351040:R283W;ENSP00000354056:R283W	ENSP00000351040:R283W	R	+	1	2	C20orf177	57953240	0.985000	0.35326	0.194000	0.23346	0.391000	0.30476	1.215000	0.32431	0.368000	0.24481	0.533000	0.62120	AGG		0.453	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
USP25	29761	broad.mit.edu	37	21	17250186	17250186	+	Silent	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr21:17250186C>T	ENST00000285679.6	+	23	3240	c.2871C>T	c.(2869-2871)atC>atT	p.I957I	USP25_ENST00000285681.2_Silent_p.I989I|USP25_ENST00000351097.5_Silent_p.I352I|USP25_ENST00000400183.2_Silent_p.I1027I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	957					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.I957I(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GTTTGATTATCATGAATGAGT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	21											118.0	119.0	118.0					21																	17250186		2203	4300	6503	16172057	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2871C>T	21.37:g.17250186C>T			16172057	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
NF2	4771	broad.mit.edu	37	22	30054240	30054240	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr22:30054240A>G	ENST00000338641.4	+	7	1103	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.Y221C|NF2_ENST00000334961.7_Missense_Mutation_p.Y138C|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Missense_Mutation_p.Y180C|NF2_ENST00000361676.4_Missense_Mutation_p.Y179C|NF2_ENST00000403435.1_Missense_Mutation_p.Y221C|NF2_ENST00000353887.4_Missense_Mutation_p.Y138C|NF2_ENST00000397789.3_Missense_Mutation_p.Y221C|NF2_ENST00000403999.3_Missense_Mutation_p.Y221C	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	221	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.N220fs*29(1)|p.E215fs*4(1)|p.Y221C(1)|p.L208fs*26(1)|p.Y207fs*27(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGTGTGAACTACTTTGCAATC	0.473			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Deletion - Frameshift(4)|Unknown(3)|Substitution - Missense(1)	soft_tissue(3)|large_intestine(1)|meninges(1)|central_nervous_system(1)|stomach(1)|ovary(1)	22											198.0	153.0	168.0					22																	30054240		2203	4300	6503	28384240	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.662A>G	22.37:g.30054240A>G	ENSP00000344666:p.Tyr221Cys		28384240	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283539	0.59867	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.75	5.75	0.90469	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.058272	0.64402	D	0.000001	D	0.92067	0.7486	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.997;0.993;0.995;0.995	D	0.93862	0.7154	9	.	.	.	.	16.0537	0.80779	1.0:0.0:0.0:0.0	.	180;221;221;179;138;221	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	C	221;221;180;221;221;138;138;221;179;221	ENSP00000344666:Y221C;ENSP00000384029:Y221C;ENSP00000354897:Y180C;ENSP00000384797:Y221C;ENSP00000335652:Y138C;ENSP00000340626:Y138C;ENSP00000380891:Y221C;ENSP00000355183:Y179C;ENSP00000354529:Y221C	.	Y	+	2	0	NF2	28384240	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	9.248000	0.95456	2.181000	0.69327	0.460000	0.39030	TAC		0.473	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
SPATA18	132671	broad.mit.edu	37	4	52938302	52938302	+	Silent	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr4:52938302G>A	ENST00000295213.4	+	6	1112	c.738G>A	c.(736-738)gaG>gaA	p.E246E	SPATA18_ENST00000419395.2_Silent_p.E214E|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	246					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.E246E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGTCTGCTGAGAAAAGTGCAC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	4											79.0	75.0	76.0					4																	52938302		2203	4300	6503	52633059	SO:0001819	synonymous_variant	132671			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.738G>A	4.37:g.52938302G>A			52633059	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.453	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
PXDNL	137902	broad.mit.edu	37	8	52387592	52387592	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr8:52387592A>G	ENST00000356297.4	-	7	734	c.634T>C	c.(634-636)Tat>Cat	p.Y212H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Y212H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	212	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Y212H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCCTGGGATATTCGCAGGTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											56.0	57.0	56.0					8																	52387592		1918	4134	6052	52550145	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.634T>C	8.37:g.52387592A>G	ENSP00000348645:p.Tyr212His		52550145	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	8.037	0.763019	0.15914	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.52295	0.67;0.67	4.63	-1.85	0.07784	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.34279	0.0892	L	0.42632	1.34	0.09310	N	0.999996	B	0.16166	0.016	B	0.15870	0.014	T	0.28138	-1.0053	9	0.20519	T	0.43	.	8.8909	0.35432	0.6106:0.0:0.3894:0.0	.	212	A1KZ92	PXDNL_HUMAN	H	212	ENSP00000348645:Y212H;ENSP00000444865:Y212H	ENSP00000348645:Y212H	Y	-	1	0	PXDNL	52550145	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.312000	0.08113	-0.356000	0.08187	-0.263000	0.10527	TAT		0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
KDM4C	23081	broad.mit.edu	37	9	7049128	7049128	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr9:7049128A>T	ENST00000381309.3	+	17	2917	c.2352A>T	c.(2350-2352)gaA>gaT	p.E784D	KDM4C_ENST00000543771.1_Missense_Mutation_p.E784D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E806D|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.E529D|KDM4C_ENST00000428870.2_Missense_Mutation_p.E471D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E784D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	784					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.E784D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CGGTCCCAGAAGTTCGATTCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											100.0	100.0	100.0					9																	7049128		2203	4300	6503	7039128	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2352A>T	9.37:g.7049128A>T	ENSP00000370710:p.Glu784Asp		7039128	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480797	0.84747	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.83483	2.645	0.48632	D	0.999688	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.996;0.999;0.999;0.998	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.2458	16.3948	0.83586	1.0:0.0:0.0:0.0	.	529;784;806;784;784	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	D	806;784;784;784;529;471;128	ENSP00000442382:E806D;ENSP00000445427:E784D;ENSP00000370710:E784D;ENSP00000370707:E784D;ENSP00000409353:E529D;ENSP00000405739:E471D;ENSP00000400127:E128D	ENSP00000370707:E784D	E	+	3	2	KDM4C	7039128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.718000	0.68455	2.326000	0.78906	0.533000	0.62120	GAA		0.423	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
BRWD3	254065	broad.mit.edu	37	X	79945493	79945493	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chrX:79945493A>C	ENST00000373275.4	-	32	3917	c.3701T>G	c.(3700-3702)gTa>gGa	p.V1234G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1234					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.V1234G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACATCAGTTACAATTTTAGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	X											86.0	73.0	78.0					X																	79945493		2203	4300	6503	79832149	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3701T>G	X.37:g.79945493A>C	ENSP00000362372:p.Val1234Gly		79832149	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017879	0.75275	.	.	ENSG00000165288	ENST00000373275	T	0.19938	2.11	4.44	4.44	0.53790	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.49615	-0.8921	9	.	.	.	-11.3827	13.1253	0.59351	1.0:0.0:0.0:0.0	.	1234	Q6RI45	BRWD3_HUMAN	G	1234	ENSP00000362372:V1234G	.	V	-	2	0	BRWD3	79832149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.705000	0.91357	1.738000	0.51689	0.481000	0.45027	GTA		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
AFF2	2334	broad.mit.edu	37	X	148037364	148037364	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chrX:148037364C>T	ENST00000370460.2	+	11	2268	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	AFF2_ENST00000286437.5_Missense_Mutation_p.R238C|AFF2_ENST00000370457.5_Missense_Mutation_p.R564C|AFF2_ENST00000342251.3_Missense_Mutation_p.R564C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAAAGCCCGTCCACGGCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											98.0	102.0	100.0					X																	148037364		2203	4300	6503	147845064	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1789C>T	X.37:g.148037364C>T	ENSP00000359489:p.Arg597Cys		147845064	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745398	0.30955	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.5	4.63	0.57726	.	0.064020	0.64402	D	0.000009	T	0.75744	0.3891	M	0.77313	2.365	0.40671	D	0.982211	D;D;D;D;D;D	0.59767	0.986;0.983;0.983;0.983;0.983;0.986	P;P;P;P;P;P	0.54401	0.664;0.534;0.534;0.534;0.636;0.751	T	0.78440	-0.2203	10	0.54805	T	0.06	.	12.0857	0.53695	0.4932:0.5068:0.0:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	597;564;564;238	ENSP00000359489:R597C;ENSP00000359486:R564C;ENSP00000345459:R564C;ENSP00000286437:R238C	ENSP00000286437:R238C	R	+	1	0	AFF2	147845064	1.000000	0.71417	0.802000	0.32245	0.001000	0.01503	4.345000	0.59360	1.071000	0.40834	-0.290000	0.09829	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
