#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
RABGGTB	5876	broad.mit.edu	37	1	76260326	76260326	+	Silent	SNP	A	A	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:76260326A>G	ENST00000319942.3	+	9	1058	c.987A>G	c.(985-987)ctA>ctG	p.L329L	MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Silent_p.L155L|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	329					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.L329L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGCCTGAGCTAGTGAGCTAGA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											115.0	112.0	113.0					1																	76260326		2203	4300	6503	76032914	SO:0001819	synonymous_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.987A>G	1.37:g.76260326A>G			76032914	Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
ARHGAP29	9411	broad.mit.edu	37	1	94645387	94645387	+	Missense_Mutation	SNP	T	T	C	rs138781972		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:94645387T>C	ENST00000260526.6	-	20	2556	c.2374A>G	c.(2374-2376)Atg>Gtg	p.M792V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.M792V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTATACACATATTTGGCCAT	0.308																																																1	Substitution - Missense(1)	ovary(1)	1						T	VAL/MET	2,4404	4.2+/-10.8	0,2,2201	155.0	151.0	152.0		2374	-2.6	0.0	1	dbSNP_134	152	0,8590		0,0,4295	no	missense	ARHGAP29	NM_004815.3	21	0,2,6496	CC,CT,TT		0.0,0.0454,0.0154	benign	792/1262	94645387	2,12994	2203	4295	6498	94417975	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2374A>G	1.37:g.94645387T>C	ENSP00000260526:p.Met792Val		94417975	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	6.623	0.483285	0.12581	4.54E-4	0.0	ENSG00000137962	ENST00000260526	T	0.19938	2.11	5.48	-2.57	0.06248	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.873453	0.09480	N	0.796497	T	0.01454	0.0047	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43702	-0.9375	10	0.05959	T	0.93	0.0157	1.5426	0.02558	0.2868:0.3293:0.1001:0.2838	.	792;792	F8VWZ8;Q52LW3	.;RHG29_HUMAN	V	792	ENSP00000260526:M792V	ENSP00000260526:M792V	M	-	1	0	ARHGAP29	94417975	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-0.025000	0.12413	-0.090000	0.12462	0.528000	0.53228	ATG		0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
RABGAP1L	9910	broad.mit.edu	37	1	174927031	174927031	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:174927031G>C	ENST00000251507.4	+	21	2611	c.2437G>C	c.(2437-2439)Gta>Cta	p.V813L	RABGAP1L_ENST00000478442.1_Missense_Mutation_p.V70L|RABGAP1L_ENST00000392064.2_Intron|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Intron|RABGAP1L_ENST00000325589.5_Intron|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.V70L|RABGAP1L_ENST00000489615.1_Intron|RABGAP1L_ENST00000347255.2_Intron	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.V813L(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTTTCAGTTTGTATATTTGTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											118.0	112.0	114.0					1																	174927031		2203	4300	6503	173193654	SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2437G>C	1.37:g.174927031G>C	ENSP00000251507:p.Val813Leu		173193654	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544820	0.45280	.	.	ENSG00000152061	ENST00000251507;ENST00000478442;ENST00000486220	T	0.04654	3.58	5.91	5.0	0.66597	.	0.243896	0.39146	N	0.001453	T	0.02571	0.0078	N	0.08118	0	0.80722	D	1	B;B	0.25312	0.002;0.123	B;B	0.18263	0.002;0.021	T	0.54655	-0.8261	10	0.26408	T	0.33	.	7.8181	0.29271	0.215:0.0:0.785:0.0	.	120;813	Q9Y3L8;Q5R372	.;RBG1L_HUMAN	L	813;70;70	ENSP00000251507:V813L	ENSP00000251507:V813L	V	+	1	0	RABGAP1L	173193654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.492000	0.45311	1.500000	0.48636	0.655000	0.94253	GTA		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr10:37430974C>T	ENST00000602533.1	+	7	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_ENST00000374660.1_Silent_p.I327I|ANKRD30A_ENST00000361713.1_Silent_p.I327I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	383					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I327I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											113.0	112.0	112.0					10																	37430974		1840	4092	5932	37470980	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.981C>T	10.37:g.37430974C>T			37470980	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
MADD	8567	broad.mit.edu	37	11	47333346	47333346	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:47333346G>C	ENST00000311027.5	+	29	4387	c.4222G>C	c.(4222-4224)Gtg>Ctg	p.V1408L	MADD_ENST00000406482.1_Missense_Mutation_p.V1306L|MADD_ENST00000342922.4_Missense_Mutation_p.V1349L|MADD_ENST00000405573.2_Missense_Mutation_p.V218L|MADD_ENST00000402192.2_Missense_Mutation_p.V1348L|MADD_ENST00000407859.3_Missense_Mutation_p.V1326L|MADD_ENST00000349238.3_Missense_Mutation_p.V1369L|MADD_ENST00000395344.3_Missense_Mutation_p.V1302L|MADD_ENST00000395336.3_Missense_Mutation_p.V1408L|MADD_ENST00000402799.1_Missense_Mutation_p.V1306L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.V1408L(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CATTGGGCTTGTGTACAGCCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											107.0	94.0	99.0					11																	47333346		2201	4298	6499	47289922	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4222G>C	11.37:g.47333346G>C	ENSP00000310933:p.Val1408Leu		47289922		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640834	0.47153	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46063	3.45;3.31;3.32;3.44;3.45;3.32;3.32;3.45;3.45;0.88	5.14	4.23	0.50019	.	0.348813	0.29745	N	0.011313	T	0.29556	0.0737	L	0.27053	0.805	0.44956	D	0.997979	B;B;B;B;B;B;B;B;B;B;B	0.10296	0.003;0.001;0.001;0.0;0.0;0.001;0.002;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.14578	0.011;0.003;0.003;0.003;0.002;0.006;0.006;0.003;0.006;0.001;0.002	T	0.06303	-1.0834	10	0.41790	T	0.15	-8.9646	10.2108	0.43138	0.0724:0.0:0.7926:0.135	.	218;1302;1302;1408;1306;1306;1306;1369;1326;1408;1349	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	1349;1306;1306;1306;1369;1408;1326;1302;1408;1348;218	ENSP00000343902:V1349L;ENSP00000385585:V1306L;ENSP00000384435:V1306L;ENSP00000304505:V1369L;ENSP00000310933:V1408L;ENSP00000384204:V1326L;ENSP00000378753:V1302L;ENSP00000378745:V1408L;ENSP00000384287:V1348L;ENSP00000384483:V218L	ENSP00000310933:V1408L	V	+	1	0	MADD	47289922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.857000	0.48349	1.149000	0.42402	0.563000	0.77884	GTG		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
OR4C15	81309	broad.mit.edu	37	11	55322677	55322677	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:55322677G>C	ENST00000314644.2	+	1	895	c.895G>C	c.(895-897)Gtt>Ctt	p.V299L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V299L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCACATTGCTGTTGTGATTTT	0.423										HNSCC(20;0.049)																																						1	Substitution - Missense(1)	ovary(1)	11											243.0	234.0	237.0					11																	55322677		2201	4296	6497	55079253	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.895G>C	11.37:g.55322677G>C	ENSP00000324958:p.Val299Leu		55079253	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026795	0.54683	.	.	ENSG00000181939	ENST00000314644	T	0.00216	8.53	5.02	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	H	0.96748	3.875	0.22521	N	0.999025	P	0.51537	0.946	P	0.59595	0.86	T	0.22417	-1.0217	9	0.87932	D	0	.	8.7055	0.34351	0.1942:0.0:0.8058:0.0	.	245	Q8NGM1	OR4CF_HUMAN	L	299	ENSP00000324958:V299L	ENSP00000324958:V299L	V	+	1	0	OR4C15	55079253	0.000000	0.05858	0.698000	0.30274	0.649000	0.38597	0.692000	0.25482	0.662000	0.31006	0.385000	0.25706	GTT		0.423	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
MTA2	9219	broad.mit.edu	37	11	62365832	62365832	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:62365832C>A	ENST00000278823.2	-	5	728	c.339G>T	c.(337-339)gaG>gaT	p.E113D	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	113	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E113D(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGATATCTGTCTCATTCAAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											324.0	351.0	342.0					11																	62365832		2202	4299	6501	62122408	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.339G>T	11.37:g.62365832C>A	ENSP00000278823:p.Glu113Asp		62122408	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158001	0.78114	.	.	ENSG00000149480	ENST00000278823	D	0.84730	-1.89	5.73	2.75	0.32379	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.66506	2.035	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.84732	0.0746	10	0.28530	T	0.3	-24.407	7.4762	0.27378	0.0:0.6357:0.0:0.3643	.	113	O94776	MTA2_HUMAN	D	113	ENSP00000278823:E113D	ENSP00000278823:E113D	E	-	3	2	MTA2	62122408	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.626000	0.24492	0.727000	0.32360	0.655000	0.94253	GAG		0.522	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
GALNT6	11226	broad.mit.edu	37	12	51748228	51748228	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:51748228C>T	ENST00000543196.2	-	11	2009	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	GALNT6_ENST00000356317.3_Missense_Mutation_p.D602N			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	602	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D602N(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTTTTTGTCCTGGGATGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											91.0	84.0	87.0					12																	51748228		2203	4300	6503	50034495	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1804G>A	12.37:g.51748228C>T	ENSP00000444171:p.Asp602Asn		50034495	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	8.594	0.885237	0.17540	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26373	1.74;1.74	4.18	1.35	0.21983	Ricin B-related lectin (1);Ricin B lectin (3);	0.343051	0.32868	N	0.005554	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	P	0.36086	0.536	B	0.36608	0.229	T	0.22208	-1.0223	10	0.17369	T	0.5	.	5.0895	0.14700	0.1663:0.6506:0.0:0.1831	.	602	Q8NCL4	GALT6_HUMAN	N	602;602;583	ENSP00000444171:D602N;ENSP00000348668:D602N	ENSP00000348668:D602N	D	-	1	0	GALNT6	50034495	0.000000	0.05858	0.024000	0.17045	0.487000	0.33371	0.410000	0.21098	0.306000	0.22856	0.561000	0.74099	GAC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
SMARCC2	6601	broad.mit.edu	37	12	56568498	56568498	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:56568498T>A	ENST00000267064.4	-	16	1519	c.1433A>T	c.(1432-1434)cAa>cTa	p.Q478L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.Q478L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.Q478L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.Q478L	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	478	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q478L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATACTCTTGGGGGTTCAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											124.0	124.0	124.0					12																	56568498		2203	4300	6503	54854765	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1433A>T	12.37:g.56568498T>A	ENSP00000267064:p.Gln478Leu		54854765	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330146	0.81690	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.46819	0.88;0.89;0.86	4.15	4.15	0.48705	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.063541	0.64402	D	0.000006	T	0.54967	0.1891	L	0.33485	1.01	0.58432	D	0.999991	P;P;P;P;P	0.49559	0.925;0.908;0.925;0.925;0.908	D;P;D;D;P	0.65140	0.932;0.888;0.932;0.932;0.888	T	0.56872	-0.7907	10	0.54805	T	0.06	-4.2271	13.1349	0.59403	0.0:0.0:0.0:1.0	.	367;478;483;478;478	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	L	478	ENSP00000449396:Q478L;ENSP00000302919:Q478L;ENSP00000267064:Q478L	ENSP00000267064:Q478L	Q	-	2	0	SMARCC2	54854765	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.828000	0.86729	2.109000	0.64355	0.460000	0.39030	CAA		0.478	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
HCAR3	8843	broad.mit.edu	37	12	123200237	123200237	+	Missense_Mutation	SNP	C	C	T	rs201835480	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:123200237C>T	ENST00000528880.2	-	1	1202	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	350			G -> S.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G350S(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CATGGCTCACCGGAGTTGGCG	0.542													c|||	17	0.00339457	0.0129	0.0	5008	,	,		14630	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	12						C	SER/GLY	27,4379	33.5+/-64.1	0,27,2176	65.0	73.0	70.0		1048	-6.0	0.0	12		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	HCAR3	NM_006018.2	56	0,28,6475	TT,TC,CC		0.0116,0.6128,0.2153	benign	350/388	123200237	28,12978	2203	4300	6503	121766190	SO:0001583	missense	8843			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1048G>A	12.37:g.123200237C>T	ENSP00000436714:p.Gly350Ser		121766190	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	c	2.124	-0.400665	0.04865	0.006128	1.16E-4	ENSG00000255398	ENST00000528880	T	0.61274	0.12	2.99	-5.98	0.02220	.	.	.	.	.	T	0.21347	0.0514	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.11743	-1.0575	9	0.11794	T	0.64	.	5.9683	0.19338	0.2171:0.195:0.0:0.5878	.	350	E9PI97	.	S	350	ENSP00000436714:G350S	ENSP00000436714:G350S	G	-	1	0	HCAR3	121766190	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-3.613000	0.00414	-3.183000	0.00221	-1.206000	0.01644	GGT		0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018	
NFATC4	4776	broad.mit.edu	37	14	24838789	24838789	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr14:24838789C>A	ENST00000250373.4	+	2	326	c.185C>A	c.(184-186)cCc>cAc	p.P62H	NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.P50H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P94H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.P94H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P50H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P50H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P62H|NFATC4_ENST00000554966.1_Missense_Mutation_p.P75H|NFATC4_ENST00000554591.1_Missense_Mutation_p.P125H|NFATC4_ENST00000413692.2_Missense_Mutation_p.P125H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P75H|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000424781.2_Missense_Mutation_p.P75H|NFATC4_ENST00000556279.1_Missense_Mutation_p.P94H|NFATC4_ENST00000554050.1_Missense_Mutation_p.P62H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	62	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.P62H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATCGGTATTCCCCGACCTCCA	0.672																																																1	Substitution - Missense(1)	ovary(1)	14											86.0	95.0	92.0					14																	24838789		2203	4300	6503	23908629	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.185C>A	14.37:g.24838789C>A	ENSP00000250373:p.Pro62His		23908629	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230355	0.58777	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000556169;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77489	2.92;2.98;2.97;3.0;2.95;2.94;2.95;2.99;3.01;-1.1;2.98;2.96;1.65;2.77;2.71;2.75	3.62	3.62	0.41486	.	0.315475	0.25494	N	0.030284	T	0.72938	0.3523	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16603	0.006;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.01;0.018;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20184	0.015;0.028;0.015;0.028;0.015;0.028;0.028;0.028;0.028;0.028;0.028;0.007;0.015;0.012	T	0.73965	-0.3816	10	0.87932	D	0	-4.5924	10.629	0.45525	0.0:1.0:0.0:0.0	.	50;50;94;94;75;75;75;125;125;50;94;39;125;62	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	125;125;75;75;75;94;94;94;62;62;62;62;62;39;50;50;50	ENSP00000388910:P125H;ENSP00000452039:P125H;ENSP00000451224:P75H;ENSP00000450644:P75H;ENSP00000388668:P75H;ENSP00000439350:P94H;ENSP00000452270:P94H;ENSP00000451502:P94H;ENSP00000451151:P62H;ENSP00000451992:P62H;ENSP00000250373:P62H;ENSP00000450590:P62H;ENSP00000452352:P39H;ENSP00000451454:P50H;ENSP00000396788:P50H;ENSP00000450686:P50H	ENSP00000250373:P62H	P	+	2	0	NFATC4	23908629	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	4.359000	0.59449	1.851000	0.53745	0.655000	0.94253	CCC		0.672	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
MGA	23269	broad.mit.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																																4	Substitution - Missense(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	15											109.0	111.0	110.0					15																	42052633		1900	4109	6009	39839925	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln		39839925	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
DENND4A	10260	broad.mit.edu	37	15	66044814	66044814	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr15:66044814G>A	ENST00000431932.2	-	4	672	c.464C>T	c.(463-465)aCg>aTg	p.T155M	DENND4A_ENST00000443035.3_Missense_Mutation_p.T155M	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	155	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T155M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACAGCCAACGTATTCTGAGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	15											102.0	93.0	96.0					15																	66044814		1876	4102	5978	63831868	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.464C>T	15.37:g.66044814G>A	ENSP00000396830:p.Thr155Met		63831868	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545356	0.86022	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.22743	1.94;1.94	5.05	5.05	0.67936	MABP domain (1);	0.244653	0.41500	D	0.000868	T	0.34890	0.0913	L	0.34521	1.04	0.80722	D	1	B;D;D	0.89917	0.054;1.0;0.997	B;P;P	0.61592	0.018;0.891;0.714	T	0.10776	-1.0615	10	0.72032	D	0.01	.	18.7679	0.91880	0.0:0.0:1.0:0.0	.	155;155;155	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	M	155	ENSP00000391167:T155M;ENSP00000396830:T155M	ENSP00000396830:T155M	T	-	2	0	DENND4A	63831868	1.000000	0.71417	0.698000	0.30274	0.746000	0.42486	7.928000	0.87587	2.479000	0.83701	0.655000	0.94253	ACG		0.423	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
SPAG7	9552	broad.mit.edu	37	17	4862933	4862933	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:4862933C>T	ENST00000206020.3	-	7	647	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SPAG7_ENST00000573366.1_Missense_Mutation_p.V143M|SPAG7_ENST00000575142.1_3'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	194						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.V194M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTATTGGCCACGGGCACTAGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											68.0	72.0	71.0					17																	4862933		2002	4170	6172	4803656	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.580G>A	17.37:g.4862933C>T	ENSP00000206020:p.Val194Met		4803656	Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443921	0.63067	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.26	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.51422	1.61	0.47276	D	0.999377	D	0.60575	0.988	P	0.48795	0.59	T	0.56086	-0.8037	9	0.52906	T	0.07	-9.3422	11.8753	0.52544	0.0:0.9156:0.0:0.0844	.	194	O75391	SPAG7_HUMAN	M	194	.	ENSP00000206020:V194M	V	-	1	0	SPAG7	4803656	0.998000	0.40836	0.934000	0.37439	0.967000	0.64934	3.849000	0.55910	1.464000	0.47987	0.650000	0.86243	GTG		0.607	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890	
TXNDC17	84817	broad.mit.edu	37	17	6546273	6546273	+	Silent	SNP	T	T	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:6546273T>G	ENST00000250101.5	+	4	631	c.306T>G	c.(304-306)ccT>ccG	p.P102P	TXNDC17_ENST00000577146.1_3'UTR|TXNDC17_ENST00000574838.1_Missense_Mutation_p.L77R|KIAA0753_ENST00000572370.1_5'Flank|KIAA0753_ENST00000361413.3_5'Flank|TXNDC17_ENST00000570330.1_Silent_p.P77P	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	102	Thioredoxin.				oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)	p.P102P(1)		endometrium(1)|kidney(1)|ovary(1)	3						TCTTACAGCCTCAAAAACTGG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	17											139.0	125.0	129.0					17																	6546273		2203	4300	6503	6486997	SO:0001819	synonymous_variant	84817			BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"""thioredoxin (Trx)-related protein, 14 kDa"""		"""thioredoxin-like 5"""	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.306T>G	17.37:g.6546273T>G			6486997	A8K7E8	Silent	SNP	ENST00000250101.5	37	CCDS11077.1																																																																																				0.388	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	NM_032731	
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	17	GRCh37	CS071266	TP53	S							80.0	75.0	77.0					17																	7578176		2203	4300	6503	7518901	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A			7518901	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
MKS1	54903	broad.mit.edu	37	17	56283478	56283478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:56283478G>A	ENST00000393119.2	-	18	1716	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	MKS1_ENST00000313863.6_3'UTR|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000537529.2_Nonsense_Mutation_p.Q538*|MKS1_ENST00000546108.1_Nonsense_Mutation_p.Q345*	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	548					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.Q548*(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACTAGGTCCTGCGGGAGGCTT	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	17											24.0	28.0	27.0					17																	56283478		1912	4125	6037	53638477	SO:0001587	stop_gained	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1642C>T	17.37:g.56283478G>A	ENSP00000376827:p.Gln548*		53638477	B7WNX4|F5H885|Q284T0|Q96G13	Nonsense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784931	0.90282	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	.	.	.	5.35	5.35	0.76521	.	0.181110	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-31.1611	17.8134	0.88623	0.0:0.0:1.0:0.0	.	.	.	.	X	538;548;345	.	ENSP00000376827:Q548X	Q	-	1	0	MKS1	53638477	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	2.918000	0.48829	2.788000	0.95919	0.555000	0.69702	CAG		0.597	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
LAMA3	3909	broad.mit.edu	37	18	21402273	21402273	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr18:21402273A>C	ENST00000313654.9	+	20	2603	c.2362A>C	c.(2362-2364)Att>Ctt	p.I788L	LAMA3_ENST00000399516.3_Missense_Mutation_p.I788L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	788					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.I788L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTTTCGTGTTATTCTGAGATA	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											127.0	118.0	121.0					18																	21402273		1886	4110	5996	19656271	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2362A>C	18.37:g.21402273A>C	ENSP00000324532:p.Ile788Leu		19656271	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811762	0.50527	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17854	2.26;2.25	5.7	-1.41	0.08941	.	.	.	.	.	T	0.16642	0.0400	M	0.73598	2.24	0.80722	D	1	P;B	0.35433	0.501;0.441	B;B	0.30572	0.117;0.087	T	0.12889	-1.0530	9	0.27082	T	0.32	.	10.6457	0.45619	0.6546:0.0:0.3454:0.0	.	788;788	Q6VU67;Q16787	.;LAMA3_HUMAN	L	788;788;786	ENSP00000324532:I788L;ENSP00000382432:I788L	ENSP00000324532:I788L	I	+	1	0	LAMA3	19656271	1.000000	0.71417	0.314000	0.25224	0.792000	0.44763	1.123000	0.31308	-0.159000	0.11021	0.529000	0.55759	ATT		0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
SCN1B	6324	broad.mit.edu	37	19	35524605	35524605	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:35524605G>A	ENST00000262631.5	+	3	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000415950.3_Missense_Mutation_p.S137N|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	137	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)	p.S137N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAACACCAGCGTCGTCAAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											142.0	110.0	121.0					19																	35524605		2203	4300	6503	40216445	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.410G>A	19.37:g.35524605G>A	ENSP00000262631:p.Ser137Asn		40216445	Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906473	0.33628	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.97959	-4.63;-2.25	4.22	3.14	0.36123	.	0.367235	0.28766	N	0.014203	D	0.92146	0.7510	N	0.05124	-0.11	0.28869	N	0.895048	B;B	0.32573	0.005;0.376	B;B	0.38755	0.001;0.281	D	0.86986	0.2107	10	0.15952	T	0.53	-43.5882	9.9562	0.41668	0.0:0.2069:0.7931:0.0	.	137;137	Q07699;Q07699-2	SCN1B_HUMAN;.	N	137	ENSP00000262631:S137N;ENSP00000396915:S137N	ENSP00000262631:S137N	S	+	2	0	SCN1B	40216445	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.276000	0.18716	1.087000	0.41251	0.484000	0.47621	AGC		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1		
SBSN	374897	broad.mit.edu	37	19	36017693	36017693	+	Silent	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:36017693C>A	ENST00000452271.2	-	1	1519	c.1491G>T	c.(1489-1491)ggG>ggT	p.G497G	SBSN_ENST00000518157.1_Silent_p.G154G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	497	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G154G(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGGTTGACCCCTTGGCCAA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	19											122.0	100.0	108.0					19																	36017693		2203	4300	6503	40709533	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1491G>T	19.37:g.36017693C>A			40709533	A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																				0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
ZFP28	140612	broad.mit.edu	37	19	57059204	57059204	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:57059204C>G	ENST00000301318.3	+	4	527	c.456C>G	c.(454-456)atC>atG	p.I152M	ZFP28_ENST00000591844.1_Missense_Mutation_p.I152M|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	152	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I152M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCGATGTGATCTCCTCGTTGG	0.512																																					Ovarian(124;554 1662 19430 21141 52494)											1	Substitution - Missense(1)	ovary(1)	19											206.0	191.0	196.0					19																	57059204		2203	4300	6503	61751016	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.456C>G	19.37:g.57059204C>G	ENSP00000301318:p.Ile152Met		61751016	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543653	0.45280	.	.	ENSG00000196867	ENST00000301318	T	0.00912	5.55	4.01	1.79	0.24919	Krueppel-associated box (3);	0.000000	0.40064	N	0.001188	T	0.05914	0.0154	M	0.93016	3.37	0.20196	N	0.999929	D;D	0.89917	0.997;1.0	D;D	0.91635	0.916;0.999	T	0.07770	-1.0755	10	0.66056	D	0.02	.	6.7212	0.23330	0.0:0.7756:0.0:0.2244	.	152;152	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	M	152	ENSP00000301318:I152M	ENSP00000301318:I152M	I	+	3	3	ZFP28	61751016	0.769000	0.28531	0.369000	0.25952	0.855000	0.48748	0.642000	0.24735	0.442000	0.26555	-0.251000	0.11542	ATC		0.512	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
SOS1	6654	broad.mit.edu	37	2	39213419	39213419	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:39213419G>C	ENST00000426016.1	-	24	3634	c.3548C>G	c.(3547-3549)cCt>cGt	p.P1183R	SOS1_ENST00000395038.2_Missense_Mutation_p.P1168R|SOS1_ENST00000402219.2_Missense_Mutation_p.P1183R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1183					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1183R(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGCCTAGGAGGAATGGCTGG	0.383									Noonan syndrome																																							1	Substitution - Missense(1)	ovary(1)	2											71.0	77.0	75.0					2																	39213419		2203	4300	6503	39066923	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3548C>G	2.37:g.39213419G>C	ENSP00000387784:p.Pro1183Arg		39066923	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390531	0.62066	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;D	0.84146	-1.24;-1.24;-1.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90151	0.4221	10	0.48119	T	0.1	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	1183	Q07889	SOS1_HUMAN	R	1183;1183;900;1168	ENSP00000387784:P1183R;ENSP00000384675:P1183R;ENSP00000378479:P1168R	ENSP00000378479:P1168R	P	-	2	0	SOS1	39066923	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.554000	0.90689	2.706000	0.92434	0.650000	0.86243	CCT		0.383	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
MAP3K2	10746	broad.mit.edu	37	2	128083320	128083320	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:128083320C>G	ENST00000409947.1	-	9	943	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.D221H			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	221					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.D221H(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AAAGGACTATCAAGTGATGGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											130.0	119.0	122.0					2																	128083320		1834	4098	5932	127799790	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.661G>C	2.37:g.128083320C>G	ENSP00000387246:p.Asp221His		127799790	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337879	0.81911	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.55413	0.52;0.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.72110	-0.4389	10	0.62326	D	0.03	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	221	Q9Y2U5	M3K2_HUMAN	H	221	ENSP00000387246:D221H;ENSP00000343463:D221H	ENSP00000343463:D221H	D	-	1	0	MAP3K2	127799790	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.233000	0.78125	2.838000	0.97847	0.655000	0.94253	GAT		0.423	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
XIRP2	129446	broad.mit.edu	37	2	168103651	168103651	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:168103651C>A	ENST00000409195.1	+	9	5838	c.5749C>A	c.(5749-5751)Ctt>Att	p.L1917I	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1695I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1917I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1742					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L1917I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAGGAGCTTCTCAAAGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											54.0	50.0	52.0					2																	168103651		1830	4085	5915	167811897	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5749C>A	2.37:g.168103651C>A	ENSP00000386840:p.Leu1917Ile		167811897	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	5.205	0.223411	0.09863	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03035	4.07;4.07;4.07	5.46	3.53	0.40419	.	0.345738	0.27981	N	0.017063	T	0.06325	0.0163	M	0.65975	2.015	0.39800	D	0.972552	P;D;B	0.57571	0.921;0.98;0.36	B;P;B	0.45310	0.284;0.476;0.09	T	0.43686	-0.9376	10	0.30078	T	0.28	-14.2685	9.2845	0.37749	0.1336:0.5509:0.3155:0.0	.	1742;1742;1695	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1917;1917;1695	ENSP00000386840:L1917I;ENSP00000295237:L1917I;ENSP00000387255:L1695I	ENSP00000295237:L1917I	L	+	1	0	XIRP2	167811897	1.000000	0.71417	0.961000	0.40146	0.130000	0.20726	2.423000	0.44705	1.429000	0.47314	-0.175000	0.13238	CTT		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
ZNF804A	91752	broad.mit.edu	37	2	185800759	185800759	+	Silent	SNP	C	C	A	rs546038601	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:185800759C>A	ENST00000302277.6	+	4	1230	c.636C>A	c.(634-636)atC>atA	p.I212I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	212							metal ion binding (GO:0046872)	p.I212I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACACAAAATCGGCTTTTCTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	2											67.0	68.0	68.0					2																	185800759		2203	4300	6503	185509004	SO:0001819	synonymous_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.636C>A	2.37:g.185800759C>A			185509004	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.438	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ADA	100	broad.mit.edu	37	20	43251493	43251493	+	Missense_Mutation	SNP	G	G	A	rs201944717		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr20:43251493G>A	ENST00000372874.4	-	8	891	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.R229W|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	253					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.R253W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTTCCTGCCGCAGCCTGTTA	0.577									Adenosine Deaminase Deficiency				G|||	1	0.000199681	0.0	0.0	5008	,	,		19292	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	20											117.0	123.0	121.0					20																	43251493		2203	4300	6503	42684907	SO:0001583	missense	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.757C>T	20.37:g.43251493G>A	ENSP00000361965:p.Arg253Trp		42684907	Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	CCDS13335.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.16	3.774231	0.69992	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.96745	-4.11;-4.11	5.18	3.05	0.35203	Adenosine/AMP deaminase (1);	0.605679	0.17470	N	0.173133	D	0.96358	0.8812	M	0.81942	2.565	0.27523	N	0.951321	D	0.71674	0.998	P	0.51999	0.687	D	0.91818	0.5465	10	0.62326	D	0.03	-20.6714	7.4687	0.27336	0.0795:0.0:0.5231:0.3974	.	253	P00813	ADA_HUMAN	W	253;229	ENSP00000361965:R253W;ENSP00000441818:R229W	ENSP00000361965:R253W	R	-	1	2	ADA	42684907	0.075000	0.21258	0.576000	0.28549	0.856000	0.48823	0.754000	0.26390	1.144000	0.42321	0.462000	0.41574	CGG		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022	
IL5RA	3568	broad.mit.edu	37	3	3137080	3137080	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr3:3137080C>T	ENST00000446632.2	-	8	1332	c.758G>A	c.(757-759)cGt>cAt	p.R253H	IL5RA_ENST00000383846.1_Missense_Mutation_p.R253H|IL5RA_ENST00000311981.8_Missense_Mutation_p.R253H|IL5RA_ENST00000256452.3_Missense_Mutation_p.R253H|IL5RA_ENST00000456302.1_Missense_Mutation_p.R253H|IL5RA_ENST00000438560.1_Missense_Mutation_p.R253H|IL5RA_ENST00000430514.2_Missense_Mutation_p.R253H|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.R253H(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GATAGAGAGACGAGTTCCTTC	0.358																																					GBM(169;430 2801 24955 28528)											1	Substitution - Missense(1)	ovary(1)	3											102.0	100.0	101.0					3																	3137080		2203	4300	6503	3112080	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.758G>A	3.37:g.3137080C>T	ENSP00000412209:p.Arg253His		3112080	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922304	0.17982	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.0	-4.37	0.03633	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.674050	0.02815	N	0.124883	T	0.73241	0.3562	N	0.25647	0.755	0.22754	N	0.998777	B;B;B;B	0.20459	0.045;0.015;0.018;0.008	B;B;B;B	0.11329	0.005;0.003;0.006;0.001	T	0.57516	-0.7798	10	0.22109	T	0.4	0.7631	6.4765	0.22039	0.0:0.218:0.3584:0.4236	.	253;253;253;253	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	H	253	ENSP00000412209:R253H;ENSP00000390753:R253H;ENSP00000256452:R253H;ENSP00000373358:R253H;ENSP00000309196:R253H;ENSP00000400400:R253H;ENSP00000392059:R253H	ENSP00000256452:R253H	R	-	2	0	IL5RA	3112080	0.000000	0.05858	0.001000	0.08648	0.696000	0.40369	-0.391000	0.07323	-0.752000	0.04728	-0.150000	0.13652	CGT		0.358	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
HTR1F	3355	broad.mit.edu	37	3	88040588	88040588	+	Missense_Mutation	SNP	T	T	A	rs200867459		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr3:88040588T>A	ENST00000319595.4	+	1	743	c.689T>A	c.(688-690)cTt>cAt	p.L230H		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	230					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L230H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GGCCAAGTCCTTTTGGAGAGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											69.0	70.0	69.0					3																	88040588		2203	4300	6503	88123278	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.689T>A	3.37:g.88040588T>A	ENSP00000322924:p.Leu230His		88123278		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.967220	0.34754	.	.	ENSG00000179097	ENST00000319595	T	0.72394	-0.65	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.139707	0.48767	D	0.000172	T	0.74543	0.3730	L	0.35414	1.06	0.19575	N	0.999963	D	0.89917	1.0	D	0.69142	0.962	T	0.66464	-0.5917	10	0.40728	T	0.16	.	12.7021	0.57038	0.0:0.0:0.0:1.0	.	230	P30939	5HT1F_HUMAN	H	230	ENSP00000322924:L230H	ENSP00000322924:L230H	L	+	2	0	HTR1F	88123278	0.915000	0.31059	0.542000	0.28115	0.899000	0.52679	2.919000	0.48836	1.897000	0.54924	0.377000	0.23210	CTT		0.373	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
ZNF718	255403	broad.mit.edu	37	4	155481	155481	+	lincRNA	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr4:155481G>C	ENST00000510175.1	+	0	916							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TCATACAGGAGAGAAACCCTA	0.403																																																0			4											22.0	25.0	24.0					4																	155481		2130	4266	6396	145481			255403			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155481G>C			145481	Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37																																																																																					0.403	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
SKP2	6502	broad.mit.edu	37	5	36177066	36177066	+	Splice_Site	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:36177066G>C	ENST00000274255.6	+	8	1097		c.e8-1		SKP2_ENST00000546211.1_Splice_Site|SKP2_ENST00000508514.1_Splice_Site|SKP2_ENST00000274254.5_Splice_Site	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTTTCCTAGATCTCTCTAC	0.313																																																1	Unknown(1)	ovary(1)	5											190.0	173.0	179.0					5																	36177066		2202	4299	6501	36212823	SO:0001630	splice_region_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.902-1G>C	5.37:g.36177066G>C			36212823	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Splice_Site	SNP	ENST00000274255.6	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.403984	0.62288	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9787	0.80089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKP2	36212823	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	5.936000	0.70153	2.504000	0.84457	0.557000	0.71058	.		0.313	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983	Intron
CMYA5	202333	broad.mit.edu	37	5	79033753	79033753	+	Silent	SNP	A	A	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:79033753A>G	ENST00000446378.2	+	2	9196	c.9165A>G	c.(9163-9165)aaA>aaG	p.K3055K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3055					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K3055K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTTTGAAAAATATACTTTGA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	5											56.0	54.0	54.0					5																	79033753		1793	4055	5848	79069509	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9165A>G	5.37:g.79033753A>G			79069509	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
ADAMTS19	171019	broad.mit.edu	37	5	129019833	129019833	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:129019833G>C	ENST00000274487.4	+	18	2812	c.2667G>C	c.(2665-2667)caG>caC	p.Q889H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	889	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q889H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCAGGATCAGAATTATGGTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											150.0	144.0	146.0					5																	129019833		2203	4300	6503	129047732	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2667G>C	5.37:g.129019833G>C	ENSP00000274487:p.Gln889His		129047732		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248602	0.59103	.	.	ENSG00000145808	ENST00000274487	T	0.52526	0.66	4.42	2.57	0.30868	ADAM-TS Spacer 1 (1);	0.078771	0.51477	N	0.000098	T	0.57475	0.2056	L	0.52266	1.64	0.44862	D	0.997879	D	0.89917	1.0	D	0.74348	0.983	T	0.53746	-0.8395	9	.	.	.	.	10.018	0.42027	0.0768:0.1393:0.7839:0.0	.	889	Q8TE59	ATS19_HUMAN	H	889	ENSP00000274487:Q889H	.	Q	+	3	2	ADAMTS19	129047732	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.858000	0.48356	0.762000	0.33152	0.650000	0.86243	CAG		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
GFOD1	54438	broad.mit.edu	37	6	13365742	13365742	+	Missense_Mutation	SNP	C	C	T	rs369826547		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:13365742C>T	ENST00000379287.3	-	2	1070	c.406G>A	c.(406-408)Gag>Aag	p.E136K	GFOD1_ENST00000379284.1_Missense_Mutation_p.E33K	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	136						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.E136K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TAGCCCTCCTCGATCAGCTGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	6						C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	51.0	47.0	49.0		97,97,406	4.3	1.0	6		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GFOD1	NM_001242628.1,NM_001242630.1,NM_018988.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	33/288,33/288,136/391	13365742	1,13005	2203	4300	6503	13473721	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.406G>A	6.37:g.13365742C>T	ENSP00000368589:p.Glu136Lys		13473721	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659788	0.29515	0.0	1.16E-4	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.44482	0.92;0.92	5.15	4.26	0.50523	Oxidoreductase, C-terminal (1);NAD(P)-binding domain (1);	0.107977	0.64402	D	0.000006	T	0.22627	0.0546	L	0.59436	1.845	0.48632	D	0.99968	B	0.12630	0.006	B	0.14023	0.01	T	0.05784	-1.0864	10	0.23302	T	0.38	-18.4433	11.6855	0.51483	0.0:0.6028:0.3972:0.0	.	136	Q9NXC2	GFOD1_HUMAN	K	136;33	ENSP00000368589:E136K;ENSP00000368586:E33K	ENSP00000368586:E33K	E	-	1	0	GFOD1	13473721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.025000	0.49681	2.377000	0.81083	0.650000	0.86243	GAG		0.637	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988	
RPL10A	4736	broad.mit.edu	37	6	35436212	35436212	+	Start_Codon_SNP	SNP	A	A	G	rs138610837	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:35436212A>G	ENST00000322203.6	+	1	28	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	1					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.M1V(1)		breast(1)|large_intestine(2)|ovary(1)	4						GTGAGAAGCCATGAGGTGAGT	0.612											OREG0017378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	6											106.0	95.0	99.0					6																	35436212		2203	4300	6503	35544190	SO:0001582	initiator_codon_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.1A>G	6.37:g.35436212A>G	ENSP00000363018:p.Met1Val	855	35544190	B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989220	0.35131	.	.	ENSG00000198755	ENST00000322203	T	0.41758	0.99	4.64	4.64	0.57946	.	0.338403	0.25200	N	0.032400	T	0.29190	0.0726	.	.	.	0.80722	D	1	P	0.34743	0.466	B	0.40477	0.33	T	0.30504	-0.9976	9	0.87932	D	0	.	10.625	0.45502	1.0:0.0:0.0:0.0	.	1	P62906	RL10A_HUMAN	V	1	ENSP00000363018:M1V	ENSP00000363018:M1V	M	+	1	0	RPL10A	35544190	0.986000	0.35501	0.939000	0.37840	0.331000	0.28603	2.848000	0.48278	2.071000	0.62044	0.402000	0.26972	ATG		0.612	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104	Missense_Mutation
IBTK	25998	broad.mit.edu	37	6	82924180	82924180	+	Silent	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:82924180G>A	ENST00000306270.7	-	12	2517	c.1968C>T	c.(1966-1968)aaC>aaT	p.N656N	IBTK_ENST00000510291.1_Silent_p.N656N|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	656					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.N656N(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATTCTTCTGGGTTTTTGTTTA	0.313																																																1	Substitution - coding silent(1)	ovary(1)	6											83.0	82.0	82.0					6																	82924180		2203	4299	6502	82980899	SO:0001819	synonymous_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1968C>T	6.37:g.82924180G>A			82980899	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	CCDS34490.1																																																																																				0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
EPHA7	2045	broad.mit.edu	37	6	93979277	93979277	+	Silent	SNP	A	A	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:93979277A>T	ENST00000369303.4	-	7	1735	c.1551T>A	c.(1549-1551)gcT>gcA	p.A517A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	517	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.A517A(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCAGTAAAAGCCCGAATCT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	6											148.0	143.0	145.0					6																	93979277		2203	4299	6502	94035998	SO:0001819	synonymous_variant	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1551T>A	6.37:g.93979277A>T			94035998	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
POPDC3	64208	broad.mit.edu	37	6	105606438	105606438	+	Silent	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:105606438C>T	ENST00000254765.3	-	4	1061	c.783G>A	c.(781-783)cgG>cgA	p.R261R	BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	261					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R261R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGTTGGGTAGCCGAATATCAT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											134.0	133.0	133.0					6																	105606438		2203	4300	6503	105713131	SO:0001819	synonymous_variant	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.783G>A	6.37:g.105606438C>T			105713131	B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	CCDS5052.1																																																																																				0.388	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	
GJA1	2697	broad.mit.edu	37	6	121769073	121769073	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:121769073C>A	ENST00000282561.3	+	2	1237	c.1080C>A	c.(1078-1080)gaC>gaA	p.D360E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	360					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.D360E(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCATTGTGGACCAGCGACCTT	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											64.0	69.0	68.0					6																	121769073		2200	4295	6495	121810772	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1080C>A	6.37:g.121769073C>A	ENSP00000282561:p.Asp360Glu		121810772	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973415	0.53614	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.86769	-2.17	4.75	1.95	0.26073	.	0.000000	0.64402	D	0.000001	T	0.81302	0.4794	L	0.27053	0.805	0.45580	D	0.998528	P	0.38767	0.646	P	0.56216	0.794	T	0.80623	-0.1300	10	0.54805	T	0.06	.	9.905	0.41370	0.0:0.7757:0.0:0.2243	.	360	P17302	CXA1_HUMAN	E	344;360	ENSP00000282561:D360E	ENSP00000282561:D360E	D	+	3	2	GJA1	121810772	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	0.553000	0.23391	0.302000	0.22762	0.484000	0.47621	GAC		0.493	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
STX11	8676	broad.mit.edu	37	6	144508227	144508227	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:144508227G>A	ENST00000367568.4	+	2	646	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	155					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.D155N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCAGCGCGACAACTGCAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																																							2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	6											47.0	45.0	46.0					6																	144508227		2203	4300	6503	144549920	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.463G>A	6.37:g.144508227G>A	ENSP00000356540:p.Asp155Asn		144549920	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853927	0.71719	.	.	ENSG00000135604	ENST00000367568	T	0.22336	1.96	5.61	4.71	0.59529	t-SNARE (1);Syntaxin, N-terminal (1);	0.452872	0.26311	N	0.025117	T	0.10035	0.0246	L	0.46157	1.445	0.53005	D	0.999967	B	0.33238	0.403	B	0.20384	0.029	T	0.03278	-1.1053	10	0.72032	D	0.01	-10.834	15.8989	0.79356	0.0:0.1359:0.8641:0.0	.	155	O75558	STX11_HUMAN	N	155	ENSP00000356540:D155N	ENSP00000356540:D155N	D	+	1	0	STX11	144549920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.641000	0.67881	1.310000	0.45006	0.655000	0.94253	GAC		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1		
PKD1L1	168507	broad.mit.edu	37	7	47944083	47944083	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:47944083A>C	ENST00000289672.2	-	12	1873	c.1823T>G	c.(1822-1824)gTg>gGg	p.V608G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	608	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V608G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCAAAGGCCACACTGGCATT	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											104.0	81.0	88.0					7																	47944083		2203	4300	6503	47910608	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1823T>G	7.37:g.47944083A>C	ENSP00000289672:p.Val608Gly		47910608	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990972	0.74703	.	.	ENSG00000158683	ENST00000289672	T	0.70282	-0.47	5.12	5.12	0.69794	PKD/Chitinase domain (1);PKD domain (3);	0.633137	0.14598	N	0.309817	D	0.84880	0.5570	M	0.83953	2.67	0.53005	D	0.999966	D	0.89917	1.0	D	0.83275	0.996	D	0.85837	0.1395	10	0.87932	D	0	-25.2109	13.2066	0.59800	1.0:0.0:0.0:0.0	.	608	Q8TDX9	PK1L1_HUMAN	G	608	ENSP00000289672:V608G	ENSP00000289672:V608G	V	-	2	0	PKD1L1	47910608	0.994000	0.37717	0.497000	0.27552	0.881000	0.50899	4.162000	0.58177	2.082000	0.62665	0.477000	0.44152	GTG		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
SAMD9L	219285	broad.mit.edu	37	7	92761213	92761213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:92761213C>A	ENST00000318238.4	-	5	5288	c.4072G>T	c.(4072-4074)Gaa>Taa	p.E1358*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1358*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1358*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1358					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.E1358*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTATACTTTCCATGGTGGTA	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	7											136.0	134.0	135.0					7																	92761213		2203	4300	6503	92599149	SO:0001587	stop_gained	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4072G>T	7.37:g.92761213C>A	ENSP00000326247:p.Glu1358*		92599149	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	49	15.501581	0.99836	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.342	18.5581	0.91091	0.0:1.0:0.0:0.0	.	.	.	.	X	1358;1358;1358;180	.	ENSP00000326247:E1358X	E	-	1	0	SAMD9L	92599149	0.998000	0.40836	0.998000	0.56505	0.103000	0.19146	0.934000	0.28910	2.716000	0.92895	0.467000	0.42956	GAA		0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
COL26A1	136227	broad.mit.edu	37	7	101196625	101196625	+	RNA	SNP	G	G	T	rs370309900		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:101196625G>T	ENST00000397927.3	+	0	1261				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G350W(1)									TGGCGTGAAGGGGGAAGAAGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											74.0	95.0	88.0					7																	101196625		2151	4249	6400	100983345			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101196625G>T			100983345	Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633655	0.47049	.	.	ENSG00000160963	ENST00000313669	D	0.99637	-6.29	3.44	2.5	0.30297	.	0.981377	0.08269	N	0.971707	D	0.99711	0.9889	H	0.98199	4.17	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.59948	0.866;0.866	D	0.96294	0.9216	10	0.87932	D	0	.	7.92	0.29839	0.0:0.0:0.7536:0.2464	.	350;350	Q96A83;C9JPW4	EMID2_HUMAN;.	W	350	ENSP00000318234:G350W	ENSP00000318234:G350W	G	+	1	0	EMID2	100983345	0.989000	0.36119	0.023000	0.16930	0.301000	0.27625	2.321000	0.43805	0.504000	0.28082	0.655000	0.94253	GGG		0.622	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457	
ST18	9705	broad.mit.edu	37	8	53071594	53071594	+	Missense_Mutation	SNP	C	C	T	rs144331817	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr8:53071594C>T	ENST00000276480.7	-	15	2353	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	557					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.R557H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAGCTGGCACGGCCAGGGCT	0.522													C|||	20	0.00399361	0.0	0.0	5008	,	,		16719	0.0198		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	8						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	103.0	101.0		1670	4.1	1.0	8	dbSNP_134	101	0,8600		0,0,4300	yes	missense	ST18	NM_014682.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	557/1048	53071594	1,13005	2203	4300	6503	53234147	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1670G>A	8.37:g.53071594C>T	ENSP00000276480:p.Arg557His		53234147	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	15	0.006868131868131868	0	0.0	0	0.0	15	0.026223776223776224	0	0.0	C	13.13	2.145494	0.37825	2.27E-4	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.48522	0.81;0.81	6.08	4.05	0.47172	Myelin transcription factor 1 (1);	0.212625	0.48767	N	0.000170	T	0.08223	0.0205	N	0.12471	0.22	0.33350	D	0.570999	B;B	0.19583	0.037;0.002	B;B	0.12837	0.008;0.002	T	0.15292	-1.0442	10	0.11794	T	0.64	-5.9118	5.4498	0.16556	0.0:0.571:0.0:0.429	.	557;557	E5RHS3;O60284	.;ST18_HUMAN	H	557	ENSP00000276480:R557H;ENSP00000428521:R557H	ENSP00000276480:R557H	R	-	2	0	ST18	53234147	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	0.743000	0.26231	1.328000	0.45358	0.655000	0.94253	CGT		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
CTPS2	56474	broad.mit.edu	37	X	16696534	16696534	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:16696534C>T	ENST00000443824.1	-	10	1788	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	CTPS2_ENST00000380241.3_Missense_Mutation_p.E349K|CTPS2_ENST00000359276.4_Missense_Mutation_p.E349K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	349	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.E349K(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACAGGGTCCTCGGTTTCAGTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											117.0	90.0	99.0					X																	16696534		2203	4300	6503	16606455	SO:0001583	missense	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1045G>A	X.37:g.16696534C>T	ENSP00000401264:p.Glu349Lys		16606455	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168074	0.21621	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207	T;T;T	0.43688	0.94;0.94;0.94	5.86	1.73	0.24493	Glutamine amidotransferase type 1 (2);	0.295685	0.32671	N	0.005789	T	0.31482	0.0798	L	0.39566	1.225	0.53688	D	0.999975	B	0.16603	0.018	B	0.13407	0.009	T	0.07790	-1.0754	10	0.38643	T	0.18	-12.9396	10.3428	0.43889	0.0:0.5578:0.3702:0.072	.	349	Q9NRF8	PYRG2_HUMAN	K	349;349;349;15	ENSP00000401264:E349K;ENSP00000369590:E349K;ENSP00000352222:E349K	ENSP00000352222:E349K	E	-	1	0	CTPS2	16606455	0.997000	0.39634	0.376000	0.26042	0.152000	0.21847	3.600000	0.54052	0.193000	0.20303	0.594000	0.82650	GAG		0.403	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	
WAS	7454	broad.mit.edu	37	X	48547366	48547366	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:48547366C>T	ENST00000376701.4	+	10	1324	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	417					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.P417S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCACTCCCTCCTGCTCTGGT	0.697			"""Mis, N, F, S"""			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	1	Substitution - Missense(1)	ovary(1)	X											5.0	5.0	5.0					X																	48547366		2058	3987	6045	48432310	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1249C>T	X.37:g.48547366C>T	ENSP00000365891:p.Pro417Ser		48432310	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063771	0.20067	.	.	ENSG00000015285	ENST00000376701	D	0.99771	-6.71	4.7	3.84	0.44239	.	0.000000	0.53938	D	0.000049	D	0.97763	0.9266	N	0.08118	0	0.34550	D	0.711205	B	0.12013	0.005	B	0.10450	0.005	D	0.99976	1.2200	10	0.19590	T	0.45	-1.5963	10.0883	0.42432	0.0:0.897:0.0:0.103	.	417	P42768	WASP_HUMAN	S	417	ENSP00000365891:P417S	ENSP00000365891:P417S	P	+	1	0	WAS	48432310	0.038000	0.19896	0.453000	0.27007	0.175000	0.22909	1.413000	0.34725	0.911000	0.36747	0.464000	0.42555	CCT		0.697	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377	
NONO	4841	broad.mit.edu	37	X	70514365	70514365	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:70514365T>C	ENST00000276079.8	+	5	842	c.637T>C	c.(637-639)Ttc>Ctc	p.F213L	NONO_ENST00000373841.1_Missense_Mutation_p.F213L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.F124L|NONO_ENST00000373856.3_Missense_Mutation_p.F213L	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	213	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F213L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGAAGGCTCCTTCCTGCTAAC	0.488			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	1	Substitution - Missense(1)	ovary(1)	X											42.0	35.0	37.0					X																	70514365		2203	4300	6503	70431090	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.637T>C	X.37:g.70514365T>C	ENSP00000276079:p.Phe213Leu		70431090	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	18.37	3.609526	0.66558	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21031	2.04;2.03;2.03;2.03	4.87	4.87	0.63330	RNA recognition motif domain (2);	0.109449	0.64402	D	0.000005	T	0.18964	0.0455	N	0.25890	0.77	0.80722	D	1	B	0.26672	0.156	B	0.33799	0.17	T	0.05920	-1.0856	10	0.49607	T	0.09	-4.7764	13.7303	0.62783	0.0:0.0:0.0:1.0	.	213	Q15233	NONO_HUMAN	L	124;213;213;213	ENSP00000441364:F124L;ENSP00000276079:F213L;ENSP00000362963:F213L;ENSP00000362947:F213L	ENSP00000276079:F213L	F	+	1	0	NONO	70431090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.939000	0.70179	1.816000	0.52996	0.430000	0.28490	TTC		0.488	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
DACH2	117154	broad.mit.edu	37	X	85950139	85950139	+	Silent	SNP	T	T	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:85950139T>A	ENST00000373125.4	+	5	888	c.888T>A	c.(886-888)gcT>gcA	p.A296A	DACH2_ENST00000510272.1_Silent_p.A77A|DACH2_ENST00000508860.1_Silent_p.A129A|DACH2_ENST00000373131.1_Silent_p.A283A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A296A(1)|p.A283A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTGGGGGTGCTCCAACCCTCA	0.498																																																2	Substitution - coding silent(2)	ovary(2)	X											63.0	47.0	52.0					X																	85950139		2203	4300	6503	85836795	SO:0001819	synonymous_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.888T>A	X.37:g.85950139T>A			85836795	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	CCDS14455.1																																																																																				0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
FMR1NB	158521	broad.mit.edu	37	X	147090191	147090191	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:147090191G>C	ENST00000370467.3	+	4	666	c.592G>C	c.(592-594)Gta>Cta	p.V198L	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	198						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.V198L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTATCCTGGTATGTCTGCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											238.0	175.0	196.0					X																	147090191		2203	4300	6503	146897883	SO:0001583	missense	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.592G>C	X.37:g.147090191G>C	ENSP00000359498:p.Val198Leu		146897883	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.102304	0.01828	.	.	ENSG00000176988	ENST00000370467	T	0.29142	1.58	5.64	5.64	0.86602	.	0.380104	0.19337	N	0.116742	T	0.14227	0.0344	N	0.08118	0	0.26795	N	0.969317	B	0.31290	0.318	B	0.28638	0.092	T	0.11591	-1.0581	10	0.02654	T	1	-8.9887	13.9726	0.64250	0.0:0.0:1.0:0.0	.	198	Q8N0W7	FMR1N_HUMAN	L	198	ENSP00000359498:V198L	ENSP00000359498:V198L	V	+	1	0	FMR1NB	146897883	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.686000	0.61700	2.371000	0.80710	0.544000	0.68410	GTA		0.393	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
