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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSMD3	114788	broad.mit.edu	37	8	113347570	113347570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:113347570G>A	ENST00000297405.5	-	45	7397	c.7153C>T	c.(7153-7155)Ctc>Ttc	p.L2385F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2281F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2315F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2345F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2385	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAACTGAGCACAAAAAAG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	28					0	0	0.387290	0	0
CCNB3	85417	broad.mit.edu	37	X	50028249	50028249	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:50028249C>T	ENST00000376042.1	+	3	384	c.86C>T	c.(85-87)cCa>cTa	p.P29L	CCNB3_ENST00000348603.2_Missense_Mutation_p.P29L|CCNB3_ENST00000276014.7_Missense_Mutation_p.P29L|CCNB3_ENST00000376038.1_Missense_Mutation_p.P29L			Q8WWL7	CCNB3_HUMAN	cyclin B3	29					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATCATGACCCATCTGAAAAG	0.458000													6	75					0	0	0.278610	0	0
ACVR1	90	broad.mit.edu	37	2	158636996	158636996	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:158636996C>T	ENST00000263640.3	-	4	613	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	ACVR1_ENST00000410057.2_Missense_Mutation_p.G62S|ACVR1_ENST00000409283.2_Missense_Mutation_p.G62S|ACVR1_ENST00000434821.1_Missense_Mutation_p.G62S|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	62					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACGTGGAAGCCATCGTTGATG	0.552000													19	156					0	0	0.624587	0	0
GPR98	84059	broad.mit.edu	37	5	89941887	89941887	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:89941887G>A	ENST00000405460.2	+	16	3097	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1001					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAGAAATGATGACCCCAT	0.343000													5	7					0	0	0.184627	0	0
OR10S1	219873	broad.mit.edu	37	11	123847715	123847715	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:123847715G>A	ENST00000531945.1	-	1	773	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAATAACGATGAGGATGA	0.592000													5	46					0	0	0.217242	0	0
SCN10A	6336	broad.mit.edu	37	3	38760236	38760236	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:38760236A>C	ENST00000449082.2	-	20	3588	c.3589T>G	c.(3589-3591)Ttt>Gtt	p.F1197V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1197					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGAACACAAAGATAAAGGTG	0.488000													7	71					0	0	0.278610	0	0
SYT16	83851	broad.mit.edu	37	14	62536483	62536483	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62536483G>A	ENST00000430451.2	+	2	883	c.686G>A	c.(685-687)cGt>cAt	p.R229H	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.R229H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	229								p.R229L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAATTCAGCCGTTCGTTGTTG	0.473000													14	102					0	0	0.500413	0	0
HIF1A	3091	broad.mit.edu	37	14	62203800	62203800	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62203800A>G	ENST00000394997.1	+	9	1490	c.1225A>G	c.(1225-1227)Atc>Gtc	p.I409V	HIF1A_ENST00000557538.1_Missense_Mutation_p.I349V|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.I408V|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.I408V|HIF1A_ENST00000539097.1_Missense_Mutation_p.I432V			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	408	N-terminal VHL recognition site.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGGAGACACAATCATATCTTT	0.393000													26	36					0	0	0.681144	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048267	90048267	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:90048267T>A	ENST00000330947.2	+	5	418	c.58T>A	c.(58-60)Tta>Ata	p.L20I	LRRC8B_ENST00000439853.1_Missense_Mutation_p.L20I|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L20I	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	20						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTATCACATCTTAAAACCATG	0.483000													13	117					0	0	0.457914	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	51					0	0	0.150653	0	0
USP6	9098	broad.mit.edu	37	17	5042701	5042701	+	Silent	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:5042701T>G	ENST00000574788.1	+	22	3460	c.1230T>G	c.(1228-1230)cgT>cgG	p.R410R	USP6_ENST00000304328.5_Silent_p.R93R|USP6_ENST00000332776.4_Silent_p.R410R|USP6_ENST00000250066.6_Silent_p.R410R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	410					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCATCTCGTTTTTCCACGC	0.662000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	53					0	0	0.248553	0	0
USP14	9097	broad.mit.edu	37	18	196733	196733	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:196733C>T	ENST00000261601.6	+	7	651	c.560C>T	c.(559-561)gCc>gTc	p.A187V	USP14_ENST00000582707.1_Missense_Mutation_p.A152V|USP14_ENST00000383589.2_Missense_Mutation_p.A141V|USP14_ENST00000400266.3_Missense_Mutation_p.A176V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	187					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			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCACAGTTTGCCGAGAAAGGT	0.373000													4	220					0	0	0.184627	0	0
MUC17	140453	broad.mit.edu	37	7	100683015	100683015	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:100683015C>T	ENST00000306151.4	+	3	8382	c.8318C>T	c.(8317-8319)aCa>aTa	p.T2773I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCGTTTCAACAACTGCTGTT	0.488000													63	368					0	0	0.870114	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	51					0	0	0.150653	0	0
TRIM51	84767	broad.mit.edu	37	11	55658878	55658878	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55658878C>A	ENST00000449290.2	+	7	1221	c.1129C>A	c.(1129-1131)Ctc>Atc	p.L377I	TRIM51_ENST00000244891.3_Missense_Mutation_p.L234I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	377	B30.2/SPRY.					intracellular	zinc ion binding										AGAGGAGGGACTCTTTCTTCT	0.463000													8	49					2.32078e-09	2.528e-09	0.479597	1	0
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000440851.2_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612000													4	143					0	0	0.150653	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562601	28562601	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:28562601A>G	ENST00000383768.2	+	9	1091	c.903A>G	c.(901-903)ggA>ggG	p.G301G	ZCWPW2_ENST00000421010.1_Silent_p.G301G			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	301							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAAATATGGGAGAAAAGGTAA	0.338000													10	20					0	0	0.387290	0	0
CNKSR3	154043	broad.mit.edu	37	6	154763230	154763230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:154763230C>T	ENST00000607772.1	-	3	955	c.411G>A	c.(409-411)tgG>tgA	p.W137*	CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.W57*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	137	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACCGGTCCAGCCACGCCAGCA	0.562000													3	40					0	0	0.150653	0	0
PDHA1	5160	broad.mit.edu	37	X	19377655	19377655	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:19377655G>A	ENST00000379806.5	+	12	1316	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	PDHA1_ENST00000422285.2_Missense_Mutation_p.A353T|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379804.1_Missense_Mutation_p.A72T|PDHA1_ENST00000540249.1_Missense_Mutation_p.A322T|PDHA1_ENST00000545074.1_Missense_Mutation_p.A360T	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	353					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TGCCCAGTTTGCCACGGCCGA	0.473000													42	93					0	0	0.853193	0	0
BRWD3	254065	broad.mit.edu	37	X	79988994	79988994	+	Splice_Site	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:79988994T>C	ENST00000373275.4	-	12	1304	c.1086_splice	c.e12-1	p.D363_splice		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	363										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACAACTTTATCCTAAGACAT	0.299000													6	108					0	0	0.217242	0	0
CCDC146	57639	broad.mit.edu	37	7	76909918	76909918	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:76909918A>G	ENST00000285871.4	+	14	1994	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	CCDC146_ENST00000431197.1_Missense_Mutation_p.M337V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	623										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAAGAGGAGATGGTGCAGCT	0.408000													5	13					0	0	0.184627	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	279					0	0	0.184627	0	0
MRPS31P5	100887750	broad.mit.edu	37	13	52742433	52742433	+	RNA	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr13:52742433C>T	ENST00000451298.1	-	0	3206				RP11-64P12.8_ENST00000606031.1_RNA																							TCCCCAAGGTCTGGTTTCCTC	0.468000													4	30					0	0	0.150653	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407103	47407103	+	Translation_Start_Site	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:47407103C>T	ENST00000310638.4	-	1	34	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP4A11_ENST00000371905.1_Start_Codon_SNP_p.M1I|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Start_Codon_SNP_p.M1I	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	1					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGAGACACTCATGGTGCAGC	0.597000													13	91					0	0	0.411799	0	0
MYO9A	4649	broad.mit.edu	37	15	72227761	72227761	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr15:72227761T>A	ENST00000356056.5	-	17	2915	c.2443A>T	c.(2443-2445)Acc>Tcc	p.T815S	MYO9A_ENST00000564571.1_Missense_Mutation_p.T815S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T796S|MYO9A_ENST00000424560.1_Missense_Mutation_p.T815S|MYO9A_ENST00000566885.1_Missense_Mutation_p.T435S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	815					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCAAGGAGGTGCCACTTGAT	0.393000													13	76					0	0	0.435327	0	0
ABCA3	21	broad.mit.edu	37	16	2369816	2369816	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:2369816G>A	ENST00000301732.5	-	8	1339	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ABCA3_ENST00000382381.3_Silent_p.A213A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	213					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CATGCTGCACGGCCAGGAAGC	0.652000													10	66					0	0	0.387290	0	0
MTMR12	54545	broad.mit.edu	37	5	32276834	32276834	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:32276834G>T	ENST00000382142.3	-	2	266	c.96C>A	c.(94-96)aaC>aaA	p.N32K	MTMR12_ENST00000264934.5_Missense_Mutation_p.N32K|MTMR12_ENST00000280285.5_Missense_Mutation_p.N32K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	32						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTCCTTTTCGTTTGTGTGAA	0.343000													3	53					0.00909568	0.00940401	0.150653	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751571	26751571	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:26751571G>A	ENST00000396641.2	+	2	1000	c.408G>A	c.(406-408)ctG>ctA	p.L136L	LRRC3B_ENST00000456208.2_Silent_p.L136L|LRRC3B_ENST00000417744.1_Silent_p.L136L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	136						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCAATAACCTGAAGGCCAGGG	0.507000													23	31					0	0	0.654019	0	0
TENM1	10178	broad.mit.edu	37	X	123514615	123514615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:123514615G>A	ENST00000422452.2	-	32	8033	c.7970C>T	c.(7969-7971)gCc>gTc	p.A2657V	TENM1_ENST00000371130.3_Missense_Mutation_p.A2650V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCGCTGTCTGGCAATCTCCAA	0.542000													4	195					0	0	0.150653	0	0
HTR6	3362	broad.mit.edu	37	1	19992722	19992722	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:19992722T>C	ENST00000289753.1	+	1	943	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	159					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTCGCCTCCTTCCTGCCCCTG	0.716000													6	39					0	0	0.217242	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													34	49					0	0	0.769981	0	0
ANKAR	150709	broad.mit.edu	37	2	190592581	190592581	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:190592581G>A	ENST00000281412.6	+	12	2708	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	ANKAR_ENST00000520309.1_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site			Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	879						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCATTTGAAGATGTGTTGAA	0.343000													11	45					0	0	0.457914	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245373	65245373	+	Silent	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:65245373C>G	ENST00000234256.3	+	6	1446	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	SLC1A4_ENST00000531327.1_Silent_p.L103L	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	401					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACGTAGAGCTCAACGCAGGAC	0.488000													7	64					0	0	0.278610	0	0
SYNE1	23345	broad.mit.edu	37	6	152831446	152831446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:152831446C>T	ENST00000367255.5	-	8	1064	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	SYNE1_ENST00000265368.4_Missense_Mutation_p.V155M|SYNE1_ENST00000367253.4_Missense_Mutation_p.V155M|SYNE1_ENST00000367248.3_Missense_Mutation_p.V162M|SYNE1_ENST00000466159.2_Missense_Mutation_p.V155M|SYNE1_ENST00000341594.5_Missense_Mutation_p.V155M|SYNE1_ENST00000413186.2_Missense_Mutation_p.V155M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V162M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V162M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTGTCCACGGAGGATGCG	0.473000										HNSCC(10;0.0054)			4	67					0	0	0.184627	0	0
FAT1	2195	broad.mit.edu	37	4	187540779	187540779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:187540779G>A	ENST00000441802.2	-	10	7170	c.6961C>T	c.(6961-6963)Cag>Tag	p.Q2321*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2321	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Q2321*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAAACATCTGGTATGAGATT	0.463000										HNSCC(5;0.00058)			37	96					0	0	0.812448	0	0
MIR541	100126308	broad.mit.edu	37	14	101530842	101530842	+	RNA	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:101530842A>G	ENST00000401360.1	+	0	11					NR_030594.1																						ACGTCAGGGAAAGGATTCTGC	0.552000													8	83					0	0	0.278610	0	0
HOXD10	3236	broad.mit.edu	37	2	176982013	176982013	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:176982013A>G	ENST00000249501.4	+	1	707	c.452A>G	c.(451-453)tAt>tGt	p.Y151C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	151						nucleus	sequence-specific DNA binding	p.Y151C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTCCCTGGATATTTTAGACTG	0.552000													413	142					0	0	0.870114	0	0
KIAA1407	57577	broad.mit.edu	37	3	113699548	113699548	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:113699548T>C	ENST00000295878.3	-	14	2402	c.2256A>G	c.(2254-2256)aaA>aaG	p.K752K	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	752										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTAGACCTTTTTTCCTTA	0.408000													3	253					0	0	0.184627	0	0
NUMA1	4926	broad.mit.edu	37	11	71725761	71725761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:71725761G>A	ENST00000393695.3	-	15	3119	c.2788C>T	c.(2788-2790)Cag>Tag	p.Q930*	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q930*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	930					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGTTTCCTGCTGCTCACCT	0.607000			T	RARA	APL								23	66					0	0	0.667858	0	0
CDKL5	6792	broad.mit.edu	37	X	18593592	18593592	+	Silent	SNP	G	G	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:18593592G>C	ENST00000379989.3	+	6	549	c.264G>C	c.(262-264)gtG>gtC	p.V88V	CDKL5_ENST00000379996.3_Silent_p.V88V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	88	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGTACTTGGTGTTTGAGTATG	0.378000													26	91					0	0	0.717897	0	0
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557000													27	145					0	0	0.693898	0	0
ZIC3	7547	broad.mit.edu	37	X	136649736	136649736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:136649736G>A	ENST00000287538.5	+	1	1436	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	ZIC3_ENST00000370606.3_Missense_Mutation_p.V296I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	296					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAACAACCACGTCTGCTACTG	0.612000													31	101					0	0	0.760397	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTGAAGCTCGGGGATGAGGTG	0.507000													4	89					0	0	0.184627	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218939	130218939	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:130218939A>C	ENST00000276211.5	+	7	1201	c.856A>C	c.(856-858)Aat>Cat	p.N286H	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N274H|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N150H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGACAATCAGAATGTGCATGA	0.498000													63	268					0	0	0.870114	0	0
PRR12	57479	broad.mit.edu	37	19	50099892	50099892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:50099892C>T	ENST00000418929.2	+	4	2312	c.2300C>T	c.(2299-2301)cCa>cTa	p.P767L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	475							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCCGCCCCCACCTCCCACG	0.721000													3	23					0	0	0.115264	0	0
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:45160021C>T	ENST00000296129.1	-	2	309	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V59I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428000													4	94					0	0	0.184627	0	0
MAPK14	1432	broad.mit.edu	37	6	36070426	36070426	+	Splice_Site	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:36070426G>T	ENST00000229795.3	+	10	1288	c.841_splice	c.e10+1	p.A281_splice	MAPK14_ENST00000468133.1_Splice_Site_p.A204_splice|MAPK14_ENST00000229794.4_Splice_Site_p.A281_splice|MAPK14_ENST00000310795.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	281	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CAATCCCCTGGGTAAGTTGAC	0.373000													23	75					3.6726e-16	4.11062e-16	0.667858	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459945	107459945	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:107459945A>C	ENST00000409382.3	-	2	1099	c.489T>G	c.(487-489)ttT>ttG	p.F163L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F163L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F163L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	163					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCAGCCGGAAAAGCCCCCT	0.642000													19	174					0	0	0.624587	0	0
DMD	1756	broad.mit.edu	37	X	31950341	31950341	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:31950341T>C	ENST00000357033.4	-	46	6824	c.6618A>G	c.(6616-6618)ctA>ctG	p.L2206L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Silent_p.L2202L|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2206					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGTTCTTCTAGCCTGGAGA	0.303000													8	44					0	0	0.335167	0	0
LCT	3938	broad.mit.edu	37	2	136566025	136566025	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:136566025C>G	ENST00000264162.2	-	8	3902	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1298	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.E1298Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCAAAGCCTCATTGATGTAG	0.443000													25	230					0	0	0.706142	0	0
CES2	8824	broad.mit.edu	37	16	66969474	66969474	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:66969474C>A	ENST00000317091.4	+	1	1112	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	CES2_ENST00000417689.1_Missense_Mutation_p.P43Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGGACAGACCCGGGGCAGCCT	0.682000													10	78					2.17888e-05	2.3115e-05	0.335167	1	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68571514G>A	ENST00000265641.5	-	5	663	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_ENST00000376618.2_Missense_Mutation_p.S170L|CPT1A_ENST00000540367.1_Missense_Mutation_p.S170L|CPT1A_ENST00000539743.1_Missense_Mutation_p.S170L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498000													7	54					0	0	0.307466	0	0
DHX30	22907	broad.mit.edu	37	3	47888975	47888975	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:47888975C>T	ENST00000446256.2	+	14	2514	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	DHX30_ENST00000348968.4_Missense_Mutation_p.R659C|DHX30_ENST00000457607.1_Missense_Mutation_p.R715C|DHX30_ENST00000445061.1_Missense_Mutation_p.R687C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	687						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGCAGCAGCGCCTCCAGGA	0.632000													7	20					0	0	0.278610	0	0
PELI2	57161	broad.mit.edu	37	14	56755320	56755320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:56755320G>T	ENST00000267460.4	+	4	761	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	159					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATTCGCCGCCGGATTTGACTC	0.438000													11	27					9.05144e-12	9.94843e-12	0.435327	1	0
C10orf118	55088	broad.mit.edu	37	10	115923080	115923080	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:115923080G>A	ENST00000369287.3	-	0	214				C10orf118_ENST00000369286.1_De_novo_Start_InFrame|C10orf118_ENST00000369285.3_De_novo_Start_InFrame	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118											NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CCTGATCTTCGTTTTACATCT	0.368000													16	28					0	0	0.500413	0	0
ROR1	4919	broad.mit.edu	37	1	64608106	64608106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:64608106G>A	ENST00000371079.1	+	7	1322	c.947G>A	c.(946-948)aGc>aAc	p.S316N	ROR1_ENST00000371080.1_Missense_Mutation_p.S316N|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	316	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTTATAACAGCACAGGTGTG	0.502000													3	76					0	0	0.115264	0	0
SAMD11	148398	broad.mit.edu	37	1	861349	861349	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:861349C>A	ENST00000342066.3	+	2	111	c.28C>A	c.(28-30)Cct>Act	p.P10T	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84V	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	10						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCAGGTGCATCCTCCGATCTG	0.647000													7	73					0.000274275	0.000285996	0.307466	1	0
MPP5	64398	broad.mit.edu	37	14	67787776	67787776	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:67787776A>G	ENST00000261681.4	+	13	2201	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	MPP5_ENST00000555925.1_Missense_Mutation_p.T480A|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	514	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGCCTAGATACAACCCGGAG	0.438000													3	84					0	0	0.115264	0	0
ASPM	259266	broad.mit.edu	37	1	197070787	197070787	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:197070787G>A	ENST00000367409.4	-	18	7850	c.7594C>T	c.(7594-7596)Cat>Tat	p.H2532Y	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2532	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAGCAGAATGCCATTGTCTG	0.343000													14	94					0	0	0.500413	0	0
SLC25A32	81034	broad.mit.edu	37	8	104415406	104415406	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:104415406G>A	ENST00000297578.4	-	4	704	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	SLC25A32_ENST00000543107.1_Missense_Mutation_p.R48C	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	180					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATAATCCACGCACACCTTCA	0.318000													3	27					0	0	0.115264	0	0
RP1L1	94137	broad.mit.edu	37	8	10466397	10466397	+	Silent	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:10466397C>A	ENST00000382483.3	-	4	5434	c.5211G>T	c.(5209-5211)ggG>ggT	p.G1737G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1737					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACTCCAGGCCCCTGGCTCA	0.657000													12	123					1.08611e-07	1.16233e-07	0.387290	1	0
NR5A2	2494	broad.mit.edu	37	1	200017505	200017505	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:200017505A>G	ENST00000367362.3	+	5	915	c.669A>G	c.(667-669)ctA>ctG	p.L223L	NR5A2_ENST00000544748.1_Silent_p.L151L|NR5A2_ENST00000236914.3_Silent_p.L177L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	223					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAAGGCCTACCTCTGAACC	0.512000													19	112					0	0	0.557998	0	0
GALNT16	57452	broad.mit.edu	37	14	69805441	69805441	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:69805441C>T	ENST00000337827.4	+	10	1368	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	GALNT16_ENST00000448469.3_Silent_p.F347F|GALNT16_ENST00000553669.1_Silent_p.F347F	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GCCATGTCTTCAGGAAACGGC	0.587000													5	89					0	0	0.217242	0	0
FAT2	2196	broad.mit.edu	37	5	150925423	150925423	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:150925423A>G	ENST00000261800.5	-	9	5277	c.5265T>C	c.(5263-5265)gcT>gcC	p.A1755A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1755	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACATAGGAGCATTGTCAT	0.403000													24	113					0	0	0.639603	0	0
PPP6R3	55291	broad.mit.edu	37	11	68341612	68341612	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68341612A>G	ENST00000393799.2	+	13	1646	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PPP6R3_ENST00000524904.1_Missense_Mutation_p.H460R|PPP6R3_ENST00000524845.1_Missense_Mutation_p.H460R|PPP6R3_ENST00000527403.2_Missense_Mutation_p.H460R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.H460R|PPP6R3_ENST00000529710.1_Missense_Mutation_p.H409R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.H460R|PPP6R3_ENST00000534534.1_Missense_Mutation_p.H228R|PPP6R3_ENST00000393800.2_Missense_Mutation_p.H460R|PPP6R3_ENST00000265636.5_Missense_Mutation_p.H409R			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	460					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACATGGGACACCTAACGAGG	0.453000													29	71					0	0	0.760397	0	0
ACTN3	89	broad.mit.edu	37	11	66330402	66330402	+	RNA	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:66330402T>C	ENST00000513398.1	+	0	2621				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGTAGCTTCCTTCAAGATCTT	0.612000													10	75					0	0	0.387290	0	0
ITIH6	347365	broad.mit.edu	37	X	54783977	54783977	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:54783977T>C	ENST00000218436.6	-	8	2559	c.2530A>G	c.(2530-2532)Atc>Gtc	p.I844V		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	844	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GACAAGAGGATTCCAGGCCCC	0.507000													37	113					0	0	0.804634	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													9	20					0	0	0.575678	0	0
TTN	7273	broad.mit.edu	37	2	179586740	179586740	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:179586740T>C	ENST00000589042.1	-	78	22874	c.22650A>G	c.(22648-22650)aaA>aaG	p.K7550K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K7233K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.K6306K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7233	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K6306N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGTTATCTTTTGACCAAG	0.418000													23	224					0	0	0.624587	0	0
CPNE8	144402	broad.mit.edu	37	12	39069531	39069531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:39069531C>T	ENST00000331366.5	-	18	1516	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	CPNE8_ENST00000538596.2_Missense_Mutation_p.A143T|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.A462T	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	474	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCAAATTCTGCTGGTCCAACA	0.318000													3	65					0	0	0.115264	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487710	32487710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:32487710G>A	ENST00000266088.4	+	11	1491	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R287H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	414					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAAGGTCCGCAAGAGAGCA	0.522000													33	42					0	0	0.796494	0	0
AMER1	139285	broad.mit.edu	37	X	63410937	63410937	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:63410937C>G	ENST00000330258.3	-	2	2502	c.2230G>C	c.(2230-2232)Gcc>Ccc	p.A744P	AMER1_ENST00000403336.1_Missense_Mutation_p.A744P|AMER1_ENST00000374869.3_Missense_Mutation_p.A744P	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GTAGGGTAGGCCCTCCTGGGA	0.502000													26	58					0	0	0.681144	0	0
COL11A1	1301	broad.mit.edu	37	1	103496741	103496741	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:103496741C>G	ENST00000358392.2	-	5	1028	c.711G>C	c.(709-711)gaG>gaC	p.E237D	COL11A1_ENST00000370096.3_Missense_Mutation_p.E237D|COL11A1_ENST00000353414.4_Missense_Mutation_p.E237D|COL11A1_ENST00000512756.1_Missense_Mutation_p.E237D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	237	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACTATAATGCTCACAGTAGT	0.458000													8	25					0	0	0.307466	0	0
AGAP6	414189	broad.mit.edu	37	10	51768861	51768861	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:51768861A>G	ENST00000374056.4	+	7	1305	c.907A>G	c.(907-909)Att>Gtt	p.I303V	AGAP6_ENST00000412531.3_Missense_Mutation_p.I326V			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	326					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TATGAAGAATATTCATAAAAA	0.433000													38	200					0	0	0.870114	0	0
UPF3B	65109	broad.mit.edu	37	X	118985732	118985732	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:118985732C>T	ENST00000276201.2	-	2	330	c.261G>A	c.(259-261)acG>acA	p.T87T	UPF3B_ENST00000345865.2_Silent_p.T87T	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	87	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTTACCTCGTATCATTAG	0.318000													7	8					0	0	0.278610	0	0
F2RL2	2151	broad.mit.edu	37	5	75914422	75914422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:75914422A>G	ENST00000296641.4	-	2	313	c.110T>C	c.(109-111)aTt>aCt	p.I37T	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.I15T	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	37					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGGTCTTAATGGGTAAGGT	0.393000													3	118					0	0	0.150653	0	0
OR5J2	282775	broad.mit.edu	37	11	55945016	55945016	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55945016A>C	ENST00000312298.1	+	1	923	c.923A>C	c.(922-924)aAa>aCa	p.K308T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATAGAAATGAAACATTTCCTC	0.388000													5	18					0	0	0.217242	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685722	121685722	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:121685722G>A	ENST00000369075.3	+	13	2368	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E555K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	766					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAATCTTTTGAAGTTGGCGC	0.418000													9	143					0	0	0.335167	0	0
NAV3	89795	broad.mit.edu	37	12	78511829	78511829	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:78511829G>A	ENST00000397909.2	+	14	2965	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H	NAV3_ENST00000228327.6_Missense_Mutation_p.R931H|NAV3_ENST00000266692.7_Missense_Mutation_p.R931H|NAV3_ENST00000536525.2_Missense_Mutation_p.R931H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	931						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGAGAAACGCTCCACCACA	0.388000										HNSCC(70;0.22)			30	124					0	0	0.779181	0	0
TET2	54790	broad.mit.edu	37	4	106158042	106158042	+	Silent	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:106158042T>A	ENST00000540549.1	+	3	3803	c.2943T>A	c.(2941-2943)atT>atA	p.I981I	TET2_ENST00000394764.1_Silent_p.I981I|TET2_ENST00000305737.2_Silent_p.I981I|TET2_ENST00000380013.4_Silent_p.I981I|TET2_ENST00000513237.1_Silent_p.I1002I|TET2_ENST00000545826.1_Silent_p.I981I|TET2_ENST00000413648.2_Silent_p.I981I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	981					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGGCCAATTAAGGTGGAAC	0.473000			"""Mis N, F"""		MDS								18	47					0	0	0.520397	0	0
COA4	51287	broad.mit.edu	37	11	73584274	73584274	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:73584274G>A	ENST00000541455.1	-	2	570	c.177C>T	c.(175-177)gaC>gaT	p.D59D	COA4_ENST00000545127.1_Silent_p.D50D|COA4_ENST00000537289.1_Silent_p.D50D|COA4_ENST00000355693.4_Silent_p.D50D					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		ATTGCCGCCAGTCCTGGTGCT	0.622000													8	78					0	0	0.307466	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133770	91133770	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:91133770C>A	ENST00000373094.1	+	2	3376	c.2531C>A	c.(2530-2532)gCt>gAt	p.A844D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A844D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A844D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A844D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	844					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACCTTAAGGCTGCTCAGAAA	0.438000													45	107					2.79147e-13	3.09599e-13	0.870114	1	0
EPHA3	2042	broad.mit.edu	37	3	89390112	89390112	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:89390112T>G	ENST00000336596.2	+	4	1086	c.861T>G	c.(859-861)tgT>tgG	p.C287W	EPHA3_ENST00000452448.2_Missense_Mutation_p.C287W|EPHA3_ENST00000494014.1_Missense_Mutation_p.C287W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	287	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATATGAAGTGTGCTAAGTGCC	0.408000										TSP Lung(6;0.00050)			13	127					0	0	0.500413	0	0
TRIM46	80128	broad.mit.edu	37	1	155148051	155148051	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:155148051T>C	ENST00000392451.2	+	2	336	c.253T>C	c.(253-255)Tcc>Ccc	p.S85P	TRIM46_ENST00000543729.1_Missense_Mutation_p.S92P|TRIM46_ENST00000368383.3_Missense_Mutation_p.S85P|TRIM46_ENST00000368382.1_Missense_Mutation_p.S62P|TRIM46_ENST00000334634.4_Missense_Mutation_p.S85P|TRIM46_ENST00000368385.4_Missense_Mutation_p.S85P|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Intron			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	85						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCCACCCCTTCCACCCGCAG	0.682000													4	59					0	0	0.217242	0	0
DST	667	broad.mit.edu	37	6	56494141	56494141	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:56494141T>C	ENST00000370754.5	-	31	4282	c.4283A>G	c.(4282-4284)tAt>tGt	p.Y1428C	DST_ENST00000370765.6_Missense_Mutation_p.Y924C|DST_ENST00000312431.6_Missense_Mutation_p.Y1250C|DST_ENST00000244364.6_Missense_Mutation_p.Y924C|DST_ENST00000518935.1_Missense_Mutation_p.Y924C|DST_ENST00000361203.3_Missense_Mutation_p.Y1250C|DST_ENST00000421834.2_Missense_Mutation_p.Y1250C|DST_ENST00000370788.2_Missense_Mutation_p.Y1250C|DST_ENST00000370769.4_Missense_Mutation_p.Y1250C|DST_ENST00000446842.2_Missense_Mutation_p.Y924C			Q03001	DYST_HUMAN	dystonin	1250					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGTTCTTTATACGTTTTAAA	0.383000													31	67					0	0	0.750413	0	0
DNAH5	1767	broad.mit.edu	37	5	13721156	13721156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:13721156C>A	ENST00000265104.4	-	71	12336	c.12232G>T	c.(12232-12234)Ggc>Tgc	p.G4078C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4078	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTCCTGGCCCTGGCCCATG	0.483000									Kartagener syndrome				17	116					5.01169e-05	5.27092e-05	0.520397	1	0
SATB1	6304	broad.mit.edu	37	3	18391087	18391087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:18391087G>A	ENST00000338745.6	-	11	3601	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	SATB1_ENST00000454909.2_Missense_Mutation_p.R623W|SATB1_ENST00000417717.2_Missense_Mutation_p.R655W|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	623					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGGGGAGCCGAGGGCCTGTC	0.602000													10	38					0	0	0.335167	0	0
C1orf87	127795	broad.mit.edu	37	1	60505607	60505607	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:60505607C>T	ENST00000371201.3	-	5	836	c.729G>A	c.(727-729)aaG>aaA	p.K243K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	243							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACCCCTCTTAGAAAATC	0.408000													17	327					0	0	0.520397	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27937744	27937744	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:27937744G>A	ENST00000394859.3	+	8	1018	c.864G>A	c.(862-864)cgG>cgA	p.R288R	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCGCACACGGACAGAACATC	0.542000													6	45					0	0	0.278610	0	0
CUL3	8452	broad.mit.edu	37	2	225376094	225376094	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:225376094A>C	ENST00000264414.4	-	6	1198	c.860T>G	c.(859-861)aTg>aGg	p.M287R	CUL3_ENST00000409096.1_Missense_Mutation_p.M263R|CUL3_ENST00000409777.1_Missense_Mutation_p.M263R|CUL3_ENST00000344951.4_Missense_Mutation_p.M221R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	287					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTTTTCAACATATGTACTAG	0.323000													21	123					0	0	0.681144	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716862	13716862	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:13716862T>G	ENST00000376098.4	+	2	375	c.349T>G	c.(349-351)Tct>Gct	p.S117A		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	117										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATATGGTCTGGAGCCAG	0.527000													21	123					0	0	0.750413	0	0
ITFG1	81533	broad.mit.edu	37	16	47294551	47294551	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:47294551C>G	ENST00000320640.6	-	11	1354	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.E263Q	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	376						extracellular region|integral to membrane		p.E376K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGACGCGCCTCTTCACAGCTT	0.438000													7	71					0	0	0.278610	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1149108	1149108	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:1149108C>T	ENST00000379236.3	-	2	207	c.203G>A	c.(202-204)gGg>gAg	p.G68E		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	68					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCGGCCCGCACGGACG	0.692000													3	7					0	0	0.184627	0	0
TLE4	7091	broad.mit.edu	37	9	82320810	82320810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr9:82320810G>T	ENST00000376520.4	+	10	1564	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	TLE4_ENST00000376537.4_Missense_Mutation_p.D246Y|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.D246Y|TLE4_ENST00000265284.6_Missense_Mutation_p.D221Y			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAGGACAGCGATGGTGAGAA	0.398000													48	65					3.76628e-20	4.25451e-20	0.870114	1	0
POTEA	340441	broad.mit.edu	37	8	43173712	43173712	+	RNA	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:43173712C>T	ENST00000522175.2	+	0	998							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGAAAGAGCAGAAAGCATG	0.403000													11	71					0	0	0.411799	0	0
ACSM5	54988	broad.mit.edu	37	16	20442585	20442585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:20442585G>A	ENST00000331849.4	+	10	1397	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	417					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAGAAGAGGGGAATGTTGCC	0.522000													18	151					0	0	0.592651	0	0
CSMD1	64478	broad.mit.edu	37	8	3265649	3265649	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:3265649T>G	ENST00000520002.1	-	15	2401	c.1846A>C	c.(1846-1848)Atc>Ctc	p.I616L	CSMD1_ENST00000602723.1_Missense_Mutation_p.I616L|CSMD1_ENST00000400186.3_Missense_Mutation_p.I616L|CSMD1_ENST00000602557.1_Missense_Mutation_p.I616L|CSMD1_ENST00000542608.1_Missense_Mutation_p.I615L|CSMD1_ENST00000539096.1_Missense_Mutation_p.I615L|CSMD1_ENST00000537824.1_Missense_Mutation_p.I615L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	616	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTCCGAGATAATCAACCAG	0.403000													5	23					0	0	0.184627	0	0
NUP37	79023	broad.mit.edu	37	12	102471261	102471261	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:102471261A>G	ENST00000552283.1	-	7	700	c.561T>C	c.(559-561)aaT>aaC	p.N187N	NUP37_ENST00000251074.1_Silent_p.N187N			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	187					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GGATTGTTCCATTCTTCTCTG	0.363000													9	68					0	0	0.307466	0	0
MN1	4330	broad.mit.edu	37	22	28193871	28193871	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:28193871G>A	ENST00000302326.4	-	1	3615	c.2661C>T	c.(2659-2661)gcC>gcT	p.A887A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	887							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGGTCCTGGGGCCCCAGGAG	0.711000			T	ETV6	"""AML, meningioma"""								14	18					0	0	0.435327	0	0
KCNH7	90134	broad.mit.edu	37	2	163302670	163302670	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:163302670C>T	ENST00000332142.5	-	7	1511	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R464K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	471					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATATGTTGTTCTGAAGTTTAT	0.363000													4	38					0	0	0.184627	0	0
SLC39A6	25800	broad.mit.edu	37	18	33703502	33703502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:33703502C>T	ENST00000269187.5	-	4	1309	c.1096G>A	c.(1096-1098)Gtt>Att	p.V366I	SLC39A6_ENST00000590986.1_Missense_Mutation_p.V366I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.V91I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	366						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAAGTCCCAACGGCCAGTGCC	0.393000													22	190					0	0	0.624587	0	0
CNTN6	27255	broad.mit.edu	37	3	1320176	1320176	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:1320176A>G	ENST00000446702.2	+	5	1065	c.438A>G	c.(436-438)ccA>ccG	p.P146P	CNTN6_ENST00000350110.2_Silent_p.P146P|CNTN6_ENST00000539053.1_Silent_p.P74P			Q9UQ52	CNTN6_HUMAN	contactin 6	146	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCTGTGGCCCACCGCCACATT	0.453000													10	74					0	0	0.411799	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503733	173503733	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:173503733A>G	ENST00000367714.3	-	16	2286	c.1864T>C	c.(1864-1866)Tat>Cat	p.Y622H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	622					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATCATAGGATAAATATATATC	0.259000													23	11					0	0	0.667858	0	0
CACUL1	143384	broad.mit.edu	37	10	120513993	120513993	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:120513993G>A	ENST00000369151.3	-	1	765	c.282C>T	c.(280-282)tgC>tgT	p.C94C	CACUL1_ENST00000340214.4_Silent_p.C94C	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		CGGCCGCGTCGCAGCTCTTCA	0.672000													4	22					0	0	0.184627	0	0
C1orf172	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	30	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629													37	54	---	---	---	---					
MRPS30	10884	broad.mit.edu	37	5	44815046	44815046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:44815046delT	ENST00000507110.1	+	5	1100	c.1062delT	c.(1060-1062)ccfs	p.P354fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	354					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTACTCGACCTTTTGTCTCCC	0.373													7	396	---	---	---	---					
ITPR3	3710	broad.mit.edu	37	6	33636910	33636910	+	Frame_Shift_Del	DEL	C	C	-	rs138892441		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:33636910delC	ENST00000374316.5	+	19	3226	c.2166delC	c.(2164-2166)gafs	p.D722fs	ITPR3_ENST00000605930.1_Frame_Shift_Del_p.D722fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	722					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGCCCACGACGAGAATGTGC	0.607													7	79	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													3	6	---	---	---	---					
PMPCB	9512	broad.mit.edu	37	7	102952157	102952158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:102952157_102952158insT	ENST00000249269.4	+	10	1260_1261	c.1222_1223insT	c.(1222-1224)gttfs	p.V408fs	PMPCB_ENST00000420236.2_Frame_Shift_Ins_p.V303fs|PMPCB_ENST00000428154.1_Frame_Shift_Ins_p.V408fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	408					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAAACAAACATGTTGTTGCAG	0.356													7	33	---	---	---	---					
RP11-274B21.1	0	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs57917869		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441													3	5	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763471	102763475	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:102763471_102763475delAGTGG	ENST00000370220.1	+	2	3679_3683	c.616_620delAGTGG	c.(616-621)cfs	p.SG206fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.SG206fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	206	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCTGGCATTTAGTGGCTGGGCCAGT	0.644													44	220	---	---	---	---					
CTD-3138F19.1	0	broad.mit.edu	37	11	29748140	29748140	+	RNA	DEL	A	A	-	rs140898794		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:29748140delA	ENST00000530249.1	+	0	232																											TTCTCTACATAAAAAAAATTA	0.313													3	5	---	---	---	---					
KIAA0247	9766	broad.mit.edu	37	14	70175480	70175481	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:70175480_70175481insT	ENST00000342745.4	+	5	858_859	c.545_546insT	c.(544-546)tggfs	p.W182fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	182						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GAGGCTGTATATGGCAGTTCTG	0.589													63	78	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)gafs	p.R342fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)			22	36	---	---	---	---					
CBX3P2	645158	broad.mit.edu	37	18	2652676	2652677	+	RNA	INS	-	-	AC			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:2652676_2652677insAC	ENST00000579647.1	-	0	920_921					NR_033754.2																						ACCTAGGTTTTACACACACACA	0.347													2	4	---	---	---	---					
ADAMTSL5	339366	broad.mit.edu	37	19	1507298	1507299	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:1507298_1507299delTG	ENST00000330475.4	-	9	1237_1238	c.794_795delCA	c.(793-795)afs	p.T265fs	ADAMTSL5_ENST00000395467.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_ENST00000413997.2_Frame_Shift_Del_p.T275fs|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	265						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGCCCTGTGTCTCGGGT	0.673													11	75	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													4	8	---	---	---	---					
UMODL1	89766	broad.mit.edu	37	21	43536021	43536025	+	Frame_Shift_Del	DEL	GTCAG	GTCAG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr21:43536021_43536025delGTCAG	ENST00000400427.1	+	13	2965_2969	c.2569_2573delGTCAG	c.(2569-2574)gfs	p.VR857fs	UMODL1_ENST00000408989.2_Frame_Shift_Del_p.VR929fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.VR801fs|UMODL1_ENST00000400424.1_Frame_Shift_Del_p.VR729fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	801	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATCAAAAATGTCAGGTACTCAGAA	0.434													14	88	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													7	258	---	---	---	---