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	ACHILLES_Top_Genes	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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC440563	440563	broad.mit.edu	37	1	13183549	13183549	+	Silent	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:13183549A>C	uc010obg.1	-	1	419	c.324T>G	c.(322-324)TCT>TCG	p.S108S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	108						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						CCAAGTCAAAAGAGGAGCCGT	0.512			NA											28	67					0	0	0.054565	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473962	145473962	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:145473962G>T	uc001enq.1	+	4	1927	c.634G>T	c.(634-636)GAC>TAC	p.D212Y	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	212											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGAAGCGGGACGTATTTGA	0.602			NA											62	136					1.17004e-41	1.72721e-41	0.139131	1	0
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:152082565A>C	uc001ezp.2	-	2	3128	c.3128T>G	c.(3127-3129)CTC>CGC	p.L1043R	TCHH_uc009wne.1_Missense_Mutation_p.L1043R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.|4-5.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.254			NA											5	364					0	0	0.038147	0	0
INSRR	3645	broad.mit.edu	37	1	156823801	156823801	+	Missense_Mutation	SNP	G	G	A	rs55757706	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:156823801G>A	uc010pht.1	-	2	634	c.380C>T	c.(379-381)GCA>GTA	p.A127V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A127V	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	127					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGCAGTGCCACGTCACG	0.627			NA											13	28					0	0	0.11911	0	0
SPTA1	6708	broad.mit.edu	37	1	158627413	158627413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:158627413G>A	uc001fst.1	-	19	2858	c.2659C>T	c.(2659-2661)CGA>TGA	p.R887*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	887	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTAGCAGCTCGAGCACGGAGA	0.473			NA											43	125					0	0	0.131918	0	0
RXRG	6258	broad.mit.edu	37	1	165380300	165380300	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:165380300C>A	uc001gda.2	-	5	969	c.669G>T	c.(667-669)GAG>GAT	p.E223D		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	223	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACATTCTGCCTCACTCTCAG	0.488			NA											40	64					1.8453e-21	2.64019e-21	0.117977	1	0
FMO3	2328	broad.mit.edu	37	1	171083304	171083304	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:171083304A>G	uc001ghi.2	+	7	1096	c.985A>G	c.(985-987)ACA>GCA	p.T329A	FMO3_uc001ghh.2_Missense_Mutation_p.T329A|FMO3_uc010pmb.1_Missense_Mutation_p.T309A|FMO3_uc010pmc.1_Missense_Mutation_p.T266A	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	329					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATCTTTGCAACAGGGTATAG	0.408			NA											33	67					0	0	0.086207	0	0
PFKP	5214	broad.mit.edu	37	10	3178698	3178698	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:3178698T>C	uc001igp.2	+	22	2318	c.2282T>C	c.(2281-2283)CTG>CCG	p.L761P	PFKP_uc001igq.2_Missense_Mutation_p.L753P|PFKP_uc009xhr.2_Missense_Mutation_p.L723P|PFKP_uc009xht.2_Missense_Mutation_p.L499P|PFKP_uc009xhu.2_Missense_Mutation_p.L267P	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	761					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATGAAAATCCTGGCCAAGTAC	0.587			NA											13	26					0	0	0.11911	0	0
OR4B1	119765	broad.mit.edu	37	11	48238768	48238768	+	Missense_Mutation	SNP	G	G	A	rs149306992		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:48238768G>A	uc010rhs.1	+	1	407	c.407G>A	c.(406-408)CGT>CAT	p.R136H		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						ATTATCAGTCGTCAACTGTGT	0.473			NA											37	76					0	0	0.080422	0	0
OR4A16	81327	broad.mit.edu	37	11	55110931	55110931	+	Silent	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:55110931T>C	uc010rie.1	+	1	255	c.255T>C	c.(253-255)TGT>TGC	p.C85C		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						ACTTACTCTGTGATAAAATCG	0.448			NA											14	214					0	0	0.132662	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403699	65403699	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:65403699A>G	uc001oey.2	+	33	5514	c.5514A>G	c.(5512-5514)TCA>TCG	p.S1838S	PCNXL3_uc001oez.2_Silent_p.S725S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1838	Gly-rich.					integral to membrane					0						TGGATGATTCAGACTGTAGTG	0.637			NA											2	10					0	0	0.115264	0	0
EXPH5	23086	broad.mit.edu	37	11	108384669	108384669	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:108384669C>T	uc001pkk.2	-	6	1676	c.1565G>A	c.(1564-1566)GGC>GAC	p.G522D	EXPH5_uc010rvy.1_Missense_Mutation_p.G334D|EXPH5_uc010rvz.1_Missense_Mutation_p.G366D|EXPH5_uc010rwa.1_Missense_Mutation_p.G446D	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	522					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACATTATGGCCATGAATGGC	0.403			NA											39	58					0	0	0.092188	0	0
PABPC3	5042	broad.mit.edu	37	13	25671090	25671090	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:25671090A>G	uc001upy.2	+	1	815	c.754A>G	c.(754-756)AAT>GAT	p.N252D		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	252	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGATGAGATGAATGGAAAGGA	0.403			NA											56	60					0	0	0.139131	0	0
PCDH17	27253	broad.mit.edu	37	13	58208287	58208287	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:58208287C>A	uc001vhq.1	+	1	2499	c.1607C>A	c.(1606-1608)GCC>GAC	p.A536D	PCDH17_uc010aec.1_Missense_Mutation_p.A536D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	536	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCATCTACGCCCTGCGCTCC	0.582	Melanoma(72;952 1291 1619 12849 33676)		NA											22	84					1.50538e-07	2.02899e-07	0.116897	1	0
VIPAR	63894	broad.mit.edu	37	14	77895357	77895357	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:77895357C>T	uc001xtt.1	-	19	1686	c.1348G>A	c.(1348-1350)GTC>ATC	p.V450I	VIPAR_uc001xtu.1_Missense_Mutation_p.V450I|VIPAR_uc010tvj.1_Missense_Mutation_p.V401I|VIPAR_uc001xtv.1_Missense_Mutation_p.V450I	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	450					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						ACATCAATGACGACATCATGG	0.468			NA											29	80					0	0	0.064281	0	0
UNC13C	440279	broad.mit.edu	37	15	54825193	54825193	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:54825193A>T	uc002ack.2	+	24	5625	c.5625A>T	c.(5623-5625)ACA>ACT	p.T1875T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAACACCACATCTAATAAGA	0.308			NA											5	5					0	0	0.02938	0	0
CCPG1	9236	broad.mit.edu	37	15	55652008	55652008	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:55652008C>T	uc002acv.1	-	8	2128	c.1963G>A	c.(1963-1965)GAA>AAA	p.E655K	CCPG1_uc002acy.2_Missense_Mutation_p.E655K|CCPG1_uc002acu.1_Missense_Mutation_p.E511K|CCPG1_uc002acw.1_Missense_Mutation_p.E380K|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.E655K|CCPG1_uc002acz.1_Missense_Mutation_p.E655K	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	655	Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TGTCTAAATTCATCCATCCTT	0.358			NA											6	51					0	0	0.02938	0	0
CREBBP	1387	broad.mit.edu	37	16	3779782	3779782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:3779782G>A	uc002cvv.2	-	31	5470	c.5266C>T	c.(5266-5268)CAG>TAG	p.Q1756*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q1718*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1756	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCTCGCCCTGGCTGCTGCCC	0.622			NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybsyndrome				13	18					0	0	0.0333	0	0
USP7	7874	broad.mit.edu	37	16	9009171	9009171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:9009171G>A	uc002czl.2	-	10	1217	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	USP7_uc010uyk.1_Missense_Mutation_p.R241W|USP7_uc010uyj.1_Missense_Mutation_p.R241W|USP7_uc002czk.2_Missense_Mutation_p.R324W|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	340					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CTATCAGACCGATAGTCTACT	0.303			NA											36	75					0	0	0.080422	0	0
KIAA0182	23199	broad.mit.edu	37	16	85699584	85699584	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:85699584C>T	uc002fix.2	+	13	2835	c.2761C>T	c.(2761-2763)CCA>TCA	p.P921S	KIAA0182_uc002fiw.2_Missense_Mutation_p.P817S|KIAA0182_uc002fiy.2_Missense_Mutation_p.P848S|KIAA0182_uc002fiz.2_Missense_Mutation_p.P63S|KIAA0182_uc010cho.2_Missense_Mutation_p.P101S	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	921							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						TCTAAAAGAACCAGCCACGCA	0.498			NA											19	57					0	0	0.043863	0	0
ARRB2	409	broad.mit.edu	37	17	4621224	4621224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:4621224C>T	uc002fyj.2	+	8	755	c.527C>T	c.(526-528)CCG>CTG	p.P176L	ARRB2_uc002fyk.2_Missense_Mutation_p.P161L|ARRB2_uc002fyl.2_Missense_Mutation_p.P176L|ARRB2_uc010vsg.1_Missense_Mutation_p.P197L|ARRB2_uc002fym.2_Missense_Mutation_p.P161L|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	176					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0						CAGTTCGCCCCGGAGAAACCC	0.632			NA											13	12					0	0	0.105934	0	0
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:7578466G>A	uc002gim.2	-	5	658	c.464C>T	c.(463-465)ACC>ATC	p.T155I	TP53_uc002gig.1_Missense_Mutation_p.T155I|TP53_uc002gih.2_Missense_Mutation_p.T155I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23I|TP53_uc010cng.1_Missense_Mutation_p.T23I|TP53_uc002gii.1_Missense_Mutation_p.T23I|TP53_uc010cnh.1_Missense_Mutation_p.T155I|TP53_uc010cni.1_Missense_Mutation_p.T155I|TP53_uc002gij.2_Missense_Mutation_p.T155I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62I|TP53_uc002gio.2_Missense_Mutation_p.T23I|TP53_uc010vug.1_Missense_Mutation_p.T116I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	155	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GCGGACGCGGGTGCCGGGCGG	0.612	Pancreas(47;798 1329 9957 10801)		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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)			6	71					0	0	0.021553	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383064	39383064	+	Missense_Mutation	SNP	G	G	A	rs140426018		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:39383064G>A	uc002hwf.2	+	1	165	c.158G>A	c.(157-159)CGC>CAC	p.R53H		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	53	6.|17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			upper_aerodigestive_tract(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.647			NA											18	84					0	0	0.059317	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:65688807G>A	uc002jgc.2	+	9	1149	c.802G>A	c.(802-804)GTC>ATC	p.V268I	PITPNC1_uc002jgb.2_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557			NA											46	96					0	0	0.139131	0	0
USP14	9097	broad.mit.edu	37	18	197634	197634	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr18:197634A>C	uc002kkf.1	+	8	829	c.613A>C	c.(613-615)ATA>CTA	p.I205L	USP14_uc002kkg.1_Missense_Mutation_p.I170L|USP14_uc010wyr.1_Missense_Mutation_p.I194L	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	205					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGAATGTTGGATACAAATGAT	0.318			NA											10	50					0	0	0.080935	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730354	15730354	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:15730354G>T	uc002nbi.2	+	4	461	c.397G>T	c.(397-399)GGG>TGG	p.G133W	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.1_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	133					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1						GCCCTGGCTGGGTAAGTAACT	0.547			NA											17	42					2.35188e-11	3.26455e-11	0.038395	1	0
NTN5	126147	broad.mit.edu	37	19	49173881	49173881	+	Silent	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:49173881C>A	uc002pkb.2	-	2	459	c.363G>T	c.(361-363)GTG>GTT	p.V121V	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Silent_p.V121V	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	netrin 5 precursor	121						extracellular region				large_intestine(1)|pancreas(1)	2						AGTGGAAGGTCACCCTTTCAG	0.697			NA											3	4					0.004672	0.005952	0.115264	1	0
ZNF845	91664	broad.mit.edu	37	19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:53855879C>G	uc010ydv.1	+	4	2068	c.1951C>G	c.(1951-1953)CAA>GAA	p.Q651E	ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	651	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATCAAACCTTCAAAGACATAG	0.398			NA											3	64					0	0	0.115264	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10914974	10914974	+	Silent	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:10914974T>A	uc002ras.2	+	9	808	c.699T>A	c.(697-699)ATT>ATA	p.I233I	ATP6V1C2_uc002rat.2_Silent_p.I233I	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	233					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GAAAAGTGATTGAAGATTTCA	0.498	NSCLC(188;1042 2136 10807 16813 47705)		NA											26	216					0	0	0.116897	0	0
DCTN1	1639	broad.mit.edu	37	2	74597184	74597184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:74597184G>C	uc002skx.2	-	13	1611	c.1300C>G	c.(1300-1302)CTG>GTG	p.L434V	DCTN1_uc002skv.2_Missense_Mutation_p.L300V|DCTN1_uc002sku.2_Missense_Mutation_p.L300V|DCTN1_uc002skw.1_Missense_Mutation_p.L410V|DCTN1_uc010ffd.2_Missense_Mutation_p.L414V|DCTN1_uc002sky.2_Missense_Mutation_p.L397V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	434	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TCAGCACCCAGAGCAGCATCC	0.542			NA											53	138					0	0	0.139131	0	0
MBD5	55777	broad.mit.edu	37	2	149228015	149228015	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:149228015A>G	uc002twm.3	+	9	3491	c.2503A>G	c.(2503-2505)ACA>GCA	p.T835A	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.T835A|MBD5_uc002twn.1_Missense_Mutation_p.T276A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	835						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTATAATCAAACAAGTTCTGA	0.333			NA											20	50					0	0	0.049695	0	0
STK35	140901	broad.mit.edu	37	20	2097560	2097560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:2097560G>T	uc010gak.2	+	3	1141	c.1141G>T	c.(1141-1143)GAC>TAC	p.D381Y	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.D248Y	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	381	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CAAAGTGGCCGACTTTGGACT	0.517			NA											28	39					5.45727e-16	7.68979e-16	0.134883	1	0
CSE1L	1434	broad.mit.edu	37	20	47682732	47682732	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:47682732G>A	uc002xty.2	+	4	366	c.232G>A	c.(232-234)GAA>AAA	p.E78K	CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.E78K	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	78	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTTTTAGGTTGAAGATGAACC	0.368			NA											26	44					0	0	0.116897	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373320	62373320	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:62373320G>A	uc002ygq.2	+	4	545	c.490G>A	c.(490-492)GAC>AAC	p.D164N	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.D59N|SLC2A4RG_uc011abj.1_Missense_Mutation_p.D59N|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	164						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGGCCAGTGACCAGTCCTC	0.662			NA											9	31					0	0	0.080935	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951309	30951309	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:30951309G>C	uc003aig.1	-	4	1043	c.903C>G	c.(901-903)AAC>AAG	p.N301K	GAL3ST1_uc003aih.1_Missense_Mutation_p.N301K|GAL3ST1_uc003aii.1_Missense_Mutation_p.N301K|GAL3ST1_uc010gvz.1_Missense_Mutation_p.N301K	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	301	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						AGTCCAGCATGTTCCAGGCGG	0.706			NA											9	13					0	0	0.09319	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988085	42988085	+	Silent	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:42988085A>C	uc003bcu.2	-	7	996	c.897T>G	c.(895-897)CTT>CTG	p.L299L	POLDIP3_uc011app.1_Silent_p.L220L|POLDIP3_uc003bcv.2_Silent_p.L270L|POLDIP3_uc011apq.1_Silent_p.L316L|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	299	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						ACACACAGAAAAGCTCCTGCA	0.572	Ovarian(52;967 1128 5875 19997 42537)		NA											39	129					0	0	0.117977	0	0
IL17RE	132014	broad.mit.edu	37	3	9950949	9950949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:9950949C>T	uc003btu.2	+	9	901	c.784C>T	c.(784-786)CAG>TAG	p.Q262*	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Nonsense_Mutation_p.Q262*|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Nonsense_Mutation_p.Q262*|IL17RE_uc003btx.2_Nonsense_Mutation_p.Q146*|IL17RE_uc010hcq.2_Nonsense_Mutation_p.Q262*|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	262	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATGTCCCTTCCAGAGCTGGCC	0.488			NA											9	22					0	0	0.069234	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540678	169540678	+	Nonsense_Mutation	SNP	T	T	A	rs13062420		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:169540678T>A	uc003fgb.2	+	1	969	c.969T>A	c.(967-969)TGT>TGA	p.C323*		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	323	LRR 13.										0						TGCAGATCTGTGCACTGAAGA	0.557			NA											10	18					0	0	0.058154	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:195400728A>G	uc003fuw.2	+	9	1218	c.24A>G	c.(22-24)CCA>CCG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0						GATTGTGCCCAGCCTGTACGC	0.587			NA											3	34					0	0	0.115264	0	0
GPR125	166647	broad.mit.edu	37	4	22389442	22389442	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:22389442G>A	uc003gqm.1	-	19	4117	c.3852C>T	c.(3850-3852)AAC>AAT	p.N1284N	GPR125_uc010ieo.1_Silent_p.N1140N|GPR125_uc003gql.1_Silent_p.N411N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1284	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GAATGGCCAAGTTGAGGCCAT	0.433			NA											16	65					0	0	0.0333	0	0
CCNA2	890	broad.mit.edu	37	4	122741887	122741887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:122741887T>A	uc003iec.3	-	4	909	c.604A>T	c.(604-606)AAA>TAA	p.K202*		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	202					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			ovary(1)	1						TCTGGCTGTTTCTTCATGTAA	0.333			NA											62	96					0	0	0.139131	0	0
WWC2	80014	broad.mit.edu	37	4	184182392	184182392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:184182392C>A	uc010irx.2	+	11	1798	c.1616C>A	c.(1615-1617)GCC>GAC	p.A539D	WWC2_uc003ivk.3_Missense_Mutation_p.A334D|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.A221D|WWC2_uc003ivn.3_Missense_Mutation_p.A103D	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	539										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGGCTGAGGCCCCGAAGTCT	0.597			NA											5	16					3.09899e-07	4.11722e-07	0.047766	1	0
FBXL7	23194	broad.mit.edu	37	5	15936591	15936591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:15936591C>T	uc003jfn.1	+	4	1253	c.772C>T	c.(772-774)CGG>TGG	p.R258W		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258	LRR 4.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CAGCTTGACCCGGGAGGCCTC	0.582			NA											65	29					0	0	0.139131	0	0
TNPO1	3842	broad.mit.edu	37	5	72196889	72196889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:72196889G>A	uc003kck.3	+	22	2650	c.2503G>A	c.(2503-2505)GGC>AGC	p.G835S	TNPO1_uc011csj.1_Missense_Mutation_p.G785S|TNPO1_uc003kch.2_Missense_Mutation_p.G827S|TNPO1_uc003kci.3_Missense_Mutation_p.G827S|TNPO1_uc003kcg.3_Missense_Mutation_p.G827S	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	835					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GAATCCCAGTGGCGTAATCCA	0.313			NA											14	27					0	0	0.105934	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734993	140734993	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:140734993G>A	uc003ljq.1	+	1	226	c.226G>A	c.(226-228)GCC>ACC	p.A76T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.A76T	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	76	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTTTCGCCCTGAACCC	0.632			NA											34	109					0	0	0.069456	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407707	148407707	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:148407707G>C	uc003lpu.2	-	11	1740	c.1588C>G	c.(1588-1590)CTC>GTC	p.L530V	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L174V|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L77V|SH3TC2_uc010jgx.2_Missense_Mutation_p.L523V|SH3TC2_uc003lpv.1_Missense_Mutation_p.L77V|SH3TC2_uc011dbz.1_Missense_Mutation_p.L415V	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	530	TPR 1.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGCAGAGACGGGCATGG	0.542			NA											58	170					0	0	0.139131	0	0
FOXI1	2299	broad.mit.edu	37	5	169533097	169533097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:169533097C>T	uc003mai.3	+	1	181	c.136C>T	c.(136-138)CGG>TGG	p.R46W	FOXI1_uc003maj.3_Missense_Mutation_p.R46W	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	46	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCCTCAGCGGCCCTCCTT	0.687			NA							Pendred_syndrome				6	90					0	0	0.02938	0	0
TLX3	30012	broad.mit.edu	37	5	170736693	170736693	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:170736693A>T	uc003mbf.2	+	1	406	c.324A>T	c.(322-324)CTA>CTT	p.L108L	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGCGCGCTACCCGCCATGC	0.687	Esophageal Squamous(33;43 807 3116 3348 30094)		NA	T	BCL11B	T-ALL								11	49					0	0	0.080935	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225700	26225700	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:26225700G>A	uc003nhb.2	+	2	678	c.318G>A	c.(316-318)GAG>GAA	p.E106E	HIST1H3E_uc003nhc.3_Silent_p.E106E	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCTTTTCGAGGACACCAACC	0.577			NA									OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	109					0	0	0.058154	0	0
GRM1	2911	broad.mit.edu	37	6	146720225	146720225	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:146720225C>T	uc010khw.1	+	8	2520	c.2050C>T	c.(2050-2052)CGC>TGC	p.R684C	GRM1_uc010khv.1_Missense_Mutation_p.R684C|GRM1_uc003qll.2_Missense_Mutation_p.R684C|GRM1_uc011edz.1_Missense_Mutation_p.R684C|GRM1_uc011eea.1_Missense_Mutation_p.R684C	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	684	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R684C(1)		lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCGTATTGCACGCATCCTGGC	0.527			NA											105	103					0	0	0.139131	0	0
CCDC129	223075	broad.mit.edu	37	7	31617968	31617968	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:31617968G>C	uc003tcj.1	+	8	2083	c.1090G>C	c.(1090-1092)GAG>CAG	p.E364Q	CCDC129_uc011kad.1_Missense_Mutation_p.E374Q|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.E390Q|CCDC129_uc003tck.1_Missense_Mutation_p.E272Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	364											0						AACTCAGAAGGAGAACTTATT	0.507			NA											16	48					0	0	0.038395	0	0
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:63720697A>G	uc003tsx.2	+	3	407	c.138A>G	c.(136-138)TTA>TTG	p.L46L		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGTGATGTTAGAGAACTACA	0.378			NA											3	130					0	0	0.115264	0	0
ASL	435	broad.mit.edu	37	7	65554160	65554160	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:65554160C>T	uc003tuo.2	+	12	1027	c.916C>T	c.(916-918)CGG>TGG	p.R306W	ASL_uc003tup.2_Missense_Mutation_p.R306W|ASL_uc003tur.2_Missense_Mutation_p.R280W|ASL_uc003tuq.2_Missense_Mutation_p.R306W	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	306					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TGTGTTTGGGCGGGTGAGCAA	0.682			NA											17	63					0	0	0.0333	0	0
DENND3	22898	broad.mit.edu	37	8	142176386	142176386	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr8:142176386G>A	uc003yvy.2	+	12	1689	c.1411G>A	c.(1411-1413)GTC>ATC	p.V471I	DENND3_uc010mep.2_Missense_Mutation_p.V432I|DENND3_uc003yvz.1_Missense_Mutation_p.V155I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	471										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGCATGGTGGTCAGCATGCC	0.602			NA											78	164					0	0	0.139131	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:21971209T>A	uc003zpk.2	-	2	363	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(19)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	4					0	0	0.09319	0	0
SETX	23064	broad.mit.edu	37	9	135140265	135140265	+	Silent	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:135140265G>T	uc004cbk.2	-	26	7578	c.7395C>A	c.(7393-7395)CTC>CTA	p.L2465L	SETX_uc004cbj.2_Silent_p.L2113L|SETX_uc010mzt.2_Silent_p.L2051L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2465					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCACAGGCTTGAGTTTCAGAA	0.502			NA											5	165					5.50884e-06	7.2158e-06	0.09319	1	0
NONO	4841	broad.mit.edu	37	X	70517741	70517741	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:70517741A>C	uc004dzo.2	+	10	1794	c.1084A>C	c.(1084-1086)ATG>CTG	p.M362L	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.M362L|NONO_uc004dzp.2_Missense_Mutation_p.M362L|NONO_uc011mpv.1_Missense_Mutation_p.M273L|NONO_uc004dzq.2_Missense_Mutation_p.M231L	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	362	Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					GCAAGAAGAAATGATGCGGCG	0.522			NA	T	TFE3	papillary renal cancer								5	53					0	0	0.038147	0	0
RBMX	27316	broad.mit.edu	37	X	135958803	135958803	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:135958803A>G	uc004fae.1	-	5	610	c.400T>C	c.(400-402)TAT>CAT	p.Y134H	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.Y134H|RBMX_uc011mwg.1_Missense_Mutation_p.Y95H|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.Y95H|RBMX_uc004fag.1_Missense_Mutation_p.Y6H	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	134						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TTCATGGAATATCCACCGTCA	0.348			NA											24	281					0	0	0.083992	0	0
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:71905929_71905931delCAG	uc001jqr.2	-	1	566_568	c.412_414delCTG	c.(412-414)CTGdel	p.L138del	TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_In_Frame_Del_p.L138del|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	138					proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CCGGGCAGCTCAGCAGCAGCAGC	0.739			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
SERPINA4	5267	broad.mit.edu	37	14	95035754	95035754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:95035754delA	uc001ydk.2	+	5	1172	c.1106delA	c.(1105-1107)GACfs	p.D369fs	SERPINA4_uc010avd.2_Frame_Shift_Del_p.D406fs|SERPINA4_uc001ydl.2_Frame_Shift_Del_p.D369fs	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	369					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GCCACCTTGGACGTGGATGAG	0.567			NA											16	33	---	---	---	---	NA	NA	NA	NA	NA
MYO15A	51168	broad.mit.edu	37	17	18043881	18043915	+	Frame_Shift_Del	DEL	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	-	-	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:18043881_18043915delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	uc010vxh.1	+	19	5600_5634	c.5262_5296delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	c.(5260-5298)CGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGfs	p.R1754fs		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1754_1766	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACAC	0.664			NA									OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	158	---	---	---	---	NA	NA	NA	NA	NA
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	AGC	AGC	-	-	AGC	AGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:44388715_44388717delAGC	uc003jog.1	-	1	68_70	c.68_70delGCT	c.(67-72)TGCTTT>TTT	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537			NA											8	163	---	---	---	---	NA	NA	NA	NA	NA
KIF13A	63971	broad.mit.edu	37	6	17764530	17764531	+	Frame_Shift_Del	DEL	CT	CT	-	rs9371018	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:17764530_17764531delCT	uc003ncg.3	-	39	5333_5334	c.5228_5229delAG	c.(5227-5229)GAGfs	p.E1743fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.E1695fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.E1708fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.E1695fs|KIF13A_uc003nce.1_Frame_Shift_Del_p.E294fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1743					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATCTTTTCCCTCTGACACTCC	0.5			NA											21	44	---	---	---	---	NA	NA	NA	NA	NA
