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
DPP9	91039	broad.mit.edu	37	19	4679886	4679886	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:4679886G>A	ENST00000262960.9	-	21	2824	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	DPP9_ENST00000594671.1_Silent_p.V820V|DPP9_ENST00000598800.1_Silent_p.V820V|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	820					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TCAGTTGGGAGACGAGGAAGT	0.602000													3	11					0	0	0.009096	0	0
PCDH15	65217	broad.mit.edu	37	10	55582486	55582486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:55582486G>T	ENST00000361849.3	-	34	5400	c.5006C>A	c.(5005-5007)cCt>cAt	p.P1669H	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1664H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1644H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1667H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1598H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1627H|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1667					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1674H(1)|p.P1667H(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGAAGTGAGGCCTGGGAAA	0.418000										HNSCC(58;0.16)			37	38					7.83172e-31	9.14797e-31	0.069456	1	0
CHST2	9435	broad.mit.edu	37	3	142841109	142841109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:142841109G>A	ENST00000309575.3	+	2	2835	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	484					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AATGCCTGGCGGACCGCCCTC	0.612000													6	67					0	0	0.038147	0	0
ACTC1	70	broad.mit.edu	37	15	35084363	35084363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:35084363C>T	ENST00000290378.4	-	5	1391	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	246					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.D246N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACTTGGCCATCAGGCAGTTCA	0.522000													6	34					0	0	0.021553	0	0
ATN1	1822	broad.mit.edu	37	12	7046142	7046142	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:7046142C>A	ENST00000356654.4	+	5	1949	c.1712C>A	c.(1711-1713)tCt>tAt	p.S571Y	ATN1_ENST00000396684.2_Missense_Mutation_p.S571Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	571	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCTCTTCCTCTTCCAACTCT	0.632000													15	80					1.15088e-07	1.26962e-07	0.028581	1	0
CDH16	1014	broad.mit.edu	37	16	66950205	66950205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:66950205C>T	ENST00000299752.4	-	4	450	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	CDH16_ENST00000568632.1_Missense_Mutation_p.R86Q|CDH16_ENST00000394055.3_Missense_Mutation_p.R86Q|CDH16_ENST00000565796.1_Missense_Mutation_p.R86Q|CDH16_ENST00000570262.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	86	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R86Q(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGCTCCTCTCGGTCCAGGGC	0.622000													18	31					0	0	0.049695	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004470	44004470	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:44004470T>C	ENST00000262726.7	-	22	2826	c.2573A>G	c.(2572-2574)gAa>gGa	p.E858G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E706G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	858	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.E858G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTATCGGTTTCTAGAAAATT	0.403000													12	34					0	0	0.013537	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543408	46543408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:46543408C>T	ENST00000242848.4	-	14	3619	c.3271G>A	c.(3271-3273)Ggt>Agt	p.G1091S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1091S|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G47S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1091							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGGGTACTACCAGGAGTCGTG	0.532000													11	40					0	0	0.010729	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273897	10273897	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:10273897G>A	ENST00000396573.2	-	3	681	c.372C>T	c.(370-372)atC>atT	p.I124I	GRIN2A_ENST00000330684.3_Silent_p.I124I|GRIN2A_ENST00000562109.1_Silent_p.I124I|GRIN2A_ENST00000404927.2_Silent_p.I124I|GRIN2A_ENST00000396575.2_Silent_p.I124I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	124					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L125fs*9(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATGCCCAAGATGGGGACGA	0.612000													12	27					0	0	0.013537	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580294	96580294	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:96580294G>T	ENST00000371321.3	+	6	943	c.861G>T	c.(859-861)ttG>ttT	p.L287F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	287					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGAAAACTTGGTAATCACTG	0.413000													12	56					6.40141e-05	6.84459e-05	0.010729	1	0
TTC14	151613	broad.mit.edu	37	3	180322057	180322057	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:180322057G>A	ENST00000412756.2	+	4	600	c.531G>A	c.(529-531)ggG>ggA	p.G177G	TTC14_ENST00000382584.4_Silent_p.G177G|TTC14_ENST00000296015.4_Silent_p.G177G	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	177	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTAACCATGGGGATCCTTTAT	0.328000													66	56					0	0	0.048971	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301497	38301497	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:38301497G>A	ENST00000260630.3	-	2	1436	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.L345L	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	345			L -> F (in POAG).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCTGGTGAAGAGGAGGAGCA	0.602000													6	16					0	0	0.021553	0	0
CASR	846	broad.mit.edu	37	3	121980580	121980580	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:121980580G>T	ENST00000498619.1	+	4	1136	c.698G>T	c.(697-699)aGg>aTg	p.R233M	CASR_ENST00000296154.5_Missense_Mutation_p.R233M|CASR_ENST00000490131.1_Missense_Mutation_p.R233M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	233					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTGAGGAAAGGGATATCTGC	0.502000													7	301					0.0293803	0.0307058	0.029380	1	0
WDR72	256764	broad.mit.edu	37	15	53815478	53815478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:53815478C>T	ENST00000396328.1	-	19	3429	c.3190G>A	c.(3190-3192)Gca>Aca	p.A1064T	WDR72_ENST00000360509.5_Missense_Mutation_p.A1064T|WDR72_ENST00000559418.1_Missense_Mutation_p.A1074T|WDR72_ENST00000557913.1_Missense_Mutation_p.A1061T|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1064										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGAAGTTTGCCGAGTTTGAG	0.443000													4	125					0	0	0.014758	0	0
LOC81691	81691	broad.mit.edu	37	16	20856517	20856517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:20856517C>T	ENST00000261377.6	+	18	2287	c.2078C>T	c.(2077-2079)cCa>cTa	p.P693L	AC004381.6_ENST00000348433.6_Missense_Mutation_p.P662L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P693L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					ACAAGGCTCCCAGGGCTTCGT	0.577000													4	13					0	0	0.009096	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397759	42397759	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42397759G>A	ENST00000225308.8	-	10	997	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	SLC25A39_ENST00000377095.5_Missense_Mutation_p.R283C|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R260C|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R275C|SLC25A39_ENST00000586016.1_Missense_Mutation_p.R151C	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	283					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		p.R275C(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGACCTGGCGTTGGGTCTTT	0.652000													29	21					0	0	0.050027	0	0
COL16A1	1307	broad.mit.edu	37	1	32118423	32118423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:32118423C>T	ENST00000373672.3	-	71	5160	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.M1548I|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1548	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTGCACCCATCTTGCCAT	0.592000													9	25					0	0	0.069234	0	0
SFMBT2	57713	broad.mit.edu	37	10	7205769	7205769	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:7205769C>G	ENST00000361972.4	-	21	2738	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R883T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	883	SAM.				regulation of transcription, DNA-dependent	nucleus		p.R883T(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACTTTGACTCTCTCGATCTG	0.567000													8	23					0	0	0.047766	0	0
DSCAM	1826	broad.mit.edu	37	21	41719759	41719759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr21:41719759T>C	ENST00000400454.1	-	6	1525	c.1048A>G	c.(1048-1050)Aat>Gat	p.N350D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCACCATTGCGGTACCAG	0.502000													5	129					0	0	0.021553	0	0
RNASE11	122651	broad.mit.edu	37	14	21058491	21058491	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:21058491A>T	ENST00000335950.4	-	0	205				RP11-14J7.6_ENST00000554529.1_RNA|AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE12_ENST00000556526.1_Missense_Mutation_p.L131H|RP11-14J7.6_ENST00000553604.1_RNA	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)							extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.L131H(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACAAGTGACAAGAACAAACCC	0.463000													41	57					0	0	0.039052	0	0
GABRG2	2566	broad.mit.edu	37	5	161569195	161569195	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:161569195C>G	ENST00000356592.3	+	7	1255	c.795C>G	c.(793-795)taC>taG	p.Y265*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y170*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y305*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Y265*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	265					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCTGTCTACTTTGATCTGA	0.403000													4	128					0	0	0.009096	0	0
PER2	8864	broad.mit.edu	37	2	239180022	239180022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:239180022C>T	ENST00000254657.3	-	6	982	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PER2_ENST00000440245.1_Missense_Mutation_p.D235N|PER2_ENST00000355768.2_Missense_Mutation_p.D235N|PER2_ENST00000254658.3_Missense_Mutation_p.D235N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	235	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGCCCACATCGTGAGGCGCC	0.522000													19	64					0	0	0.049695	0	0
ZNF708	7562	broad.mit.edu	37	19	21493405	21493405	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:21493405C>A	ENST00000356929.3	-	2	225	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AATTCTATGGCCACATCCATA	0.388000													28	45					1.50538e-07	1.64762e-07	0.030593	1	0
DCHS1	8642	broad.mit.edu	37	11	6648366	6648366	+	Silent	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:6648366A>G	ENST00000299441.3	-	14	6315	c.5904T>C	c.(5902-5904)cgT>cgC	p.R1968R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1968	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCGGGGCAGACGTAGGCGCA	0.612000													23	53					0	0	0.076483	0	0
DARC	2532	broad.mit.edu	37	1	159175312	159175312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:159175312C>T	ENST00000537147.1	+	3	926	c.83C>T	c.(82-84)tCt>tTt	p.S28F	DARC_ENST00000368122.2_Missense_Mutation_p.S28F|DARC_ENST00000368121.2_Missense_Mutation_p.S30F			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	28					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GTATGGAATTCTTCCTATGGT	0.537000													11	54					0	0	0.069234	0	0
TTN	7273	broad.mit.edu	37	2	179642181	179642181	+	Silent	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179642181G>T	ENST00000589042.1	-	26	4835	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G	TTN_ENST00000359218.5_Silent_p.G1491G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1537G|TTN_ENST00000360870.5_Silent_p.G1537G|TTN_ENST00000460472.2_Silent_p.G1491G|TTN_ENST00000342175.6_Silent_p.G1491G|TTN_ENST00000591111.1_Silent_p.G1537G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1537	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTGAAGATCTGCCTGCCCTGT	0.363000													10	25					6.42651e-13	7.26248e-13	0.010729	1	0
CYP11A1	1583	broad.mit.edu	37	15	74630346	74630346	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:74630346G>A	ENST00000358632.4	-	9	1754	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	CYP11A1_ENST00000419019.2_Silent_p.F353F|CYP11A1_ENST00000268053.6_Silent_p.F511F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	511			R -> W (in AICSR; loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TAAAGGGCCAGAAGGTGAAGG	0.552000													13	33					0	0	0.013537	0	0
LOC647323	647323	broad.mit.edu	37	3	193711706	193711706	+	RNA	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:193711706T>C	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TTGACACCAGTCCCGCTAAGT	0.478000													21	25					0	0	0.021523	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	1					0	0	0.016723	0	0
AP5Z1	9907	broad.mit.edu	37	7	4825265	4825265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:4825265C>T	ENST00000348624.4	+	9	1176	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	AP5Z1_ENST00000401897.1_Missense_Mutation_p.P361L	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	361					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CGCGGGGACCCGGCCTCTGTG	0.697000													5	2					0	0	0.021553	0	0
CAPN3	825	broad.mit.edu	37	15	42652149	42652149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:42652149G>A	ENST00000397163.3	+	1	365	c.146G>A	c.(145-147)cGc>cAc	p.R49H	CAPN3_ENST00000318023.7_Missense_Mutation_p.R49H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R49H|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.R49H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	49					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATCATCAGCCGCAATTTTCCT	0.527000													4	156					0	0	0.009096	0	0
GYS2	2998	broad.mit.edu	37	12	21692267	21692267	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:21692267G>A	ENST00000261195.2	-	15	2069	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	605					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGCATGCTGGTAATACTATT	0.328000													49	94					0	0	0.048971	0	0
C1orf173	127254	broad.mit.edu	37	1	75072310	75072310	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:75072310G>A	ENST00000326665.5	-	10	1682	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	C1orf173_ENST00000420661.2_Silent_p.D291D|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	488	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCCTGGTCGTCTTCCAAGA	0.358000													70	50					0	0	0.048971	0	0
AC008103.5	0	broad.mit.edu	37	22	18842337	18842337	+	RNA	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:18842337G>A	ENST00000412938.1	+	0	2208																											GACATCGGTGGAGAACAGGAT	0.582000													4	8					0	0	0.009096	0	0
KLK3	354	broad.mit.edu	37	19	51363301	51363301	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:51363301C>T	ENST00000326003.2	+	5	745	c.704C>T	c.(703-705)gCc>gTc	p.A235V	KLK3_ENST00000595952.1_Missense_Mutation_p.A192V|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A235V(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GAACCATGTGCCCTGCCCGAA	0.562000													37	59					0	0	0.074837	0	0
CUBN	8029	broad.mit.edu	37	10	16962010	16962010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:16962010C>T	ENST00000377833.4	-	44	6838	c.6773G>A	c.(6772-6774)cGc>cAc	p.R2258H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2258	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2258H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTGTATGCGTGTTTCCGG	0.438000													8	26					0	0	0.038147	0	0
SETD5	55209	broad.mit.edu	37	3	9489625	9489625	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:9489625A>G	ENST00000402466.1	+	16	2512	c.1744A>G	c.(1744-1746)Act>Gct	p.T582A	SETD5_ENST00000402198.1_Missense_Mutation_p.T680A|SETD5_ENST00000302463.6_Missense_Mutation_p.T582A|SETD5_ENST00000407969.1_Missense_Mutation_p.T699A|SETD5_ENST00000406341.1_Missense_Mutation_p.T680A|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	680										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTCTGACCCAACTGTGGTGTC	0.443000													2	10					0	0	0.004672	0	0
RGS3	5998	broad.mit.edu	37	9	116267802	116267802	+	Splice_Site	SNP	C	C	T	rs142637936		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:116267802C>T	ENST00000374140.2	+	12	1187	c.979_splice	c.e12+1	p.S326_splice	RGS3_ENST00000350696.5_Splice_Site_p.S326_splice|RGS3_ENST00000343817.5_Splice_Site_p.S45_splice|RGS3_ENST00000394646.3_Splice_Site_p.S45_splice|RGS3_ENST00000317613.6_Splice_Site_p.S214_splice|RGS3_ENST00000374136.1_5'UTR	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	326	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCGTGGATTCCGGTAAGTTAT	0.572000													15	19					0	0	0.028581	0	0
MIR412	574433	broad.mit.edu	37	14	101531829	101531829	+	RNA	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:101531829T>C	ENST00000362142.2	+	0	46					NR_030155.1																						AGTAATTGTTTCTAATGTACT	0.622000													62	73					0	0	0.048971	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398915	90398915	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:90398915C>T	ENST00000337338.5	+	3	695	c.288C>T	c.(286-288)aaC>aaT	p.N96N	LRRC8D_ENST00000394593.3_Silent_p.N96N	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	96						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGACAACAAACGACATTTCCT	0.498000													31	10					0	0	0.037714	0	0
SCRT2	85508	broad.mit.edu	37	20	644433	644433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr20:644433C>T	ENST00000246104.6	-	2	1383	c.806G>A	c.(805-807)cGc>cAc	p.R269H	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						CTGGCGGCAGCGGTAGTGCTT	0.701000													7	6					0	0	0.038147	0	0
CELF2	10659	broad.mit.edu	37	10	11308601	11308601	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:11308601G>A	ENST00000379261.4	+	6	650	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CELF2_ENST00000354440.2_Silent_p.Q162Q|CELF2_ENST00000416382.2_Silent_p.Q186Q|CELF2_ENST00000542579.1_Silent_p.Q193Q|CELF2_ENST00000450189.1_Silent_p.Q193Q|CELF2_ENST00000315874.3_Silent_p.Q162Q|CELF2_ENST00000417956.2_Silent_p.Q162Q|CELF2_ENST00000427450.1_Silent_p.Q162Q|CELF2_ENST00000537122.1_Silent_p.Q75Q|CELF2_ENST00000399850.3_Silent_p.Q162Q|CELF2_ENST00000354897.3_Silent_p.Q162Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448000													11	20					0	0	0.010729	0	0
GRM4	2914	broad.mit.edu	37	6	34101144	34101144	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:34101144G>A	ENST00000374181.3	-	1	299	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	GRM4_ENST00000538487.1_Missense_Mutation_p.R44C|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	44					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R44C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCATCTATGCGGATGGAATTC	0.612000													9	27					0	0	0.069234	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113499	55113499	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:55113499C>G	ENST00000370862.3	+	2	622	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	96					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.L96V(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGTCAATCTTTCTCTGGC	0.458000													76	95					0	0	0.048971	0	0
GPR116	221395	broad.mit.edu	37	6	46846093	46846093	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:46846093C>T	ENST00000283296.7	-	10	1374	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	GPR116_ENST00000265417.7_Silent_p.K362K|GPR116_ENST00000362015.4_Silent_p.K362K|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	362	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTATTTTCTTCTTGCACTCAT	0.328000													9	35					0	0	0.047766	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755613	140755613	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140755613T>G	ENST00000517434.1	+	1	1963	c.1963T>G	c.(1963-1965)Tcc>Gcc	p.S655A	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCTCTCTCCGCCACTGT	0.706000													11	33					0	0	0.028581	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453707	84453707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:84453707G>A	ENST00000377084.2	-	1	2821	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646						integral to membrane		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GACCGCTTTCGGTTCCTCAGG	0.562000													10	15					0	0	0.010729	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307841	136307841	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:136307841C>T	ENST00000371929.3	+	18	2655	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.C706C|ADAMTS13_ENST00000355699.2_Silent_p.C737C|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	737					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGAGGCCTGCGTGCTCGAAC	0.657000													38	31					0	0	0.033182	0	0
RNF168	165918	broad.mit.edu	37	3	196199094	196199094	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:196199094C>G	ENST00000318037.3	-	6	1906	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	438					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTATGTCTCTCAAACAGTAGA	0.413000													48	195					0	0	0.048971	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478912	14478912	+	RNA	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr18:14478912G>A	ENST00000581457.1	-	0	996					NR_024076.1																						ACTTTGCACTGATCTGTGCCA	0.378000													19	21					0	0	0.043863	0	0
TG	7038	broad.mit.edu	37	8	133978854	133978854	+	Silent	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:133978854C>A	ENST00000220616.4	+	30	5638	c.5598C>A	c.(5596-5598)gtC>gtA	p.V1866V	TG_ENST00000519543.1_Silent_p.V20V|TG_ENST00000377869.1_Silent_p.V1809V|TG_ENST00000542445.1_Silent_p.V236V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1866					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTCATTGTCAATGGAAATC	0.453000													47	96					3.21987e-24	3.72968e-24	0.048971	1	0
ADCY8	114	broad.mit.edu	37	8	131880186	131880186	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:131880186G>C	ENST00000286355.5	-	9	4208	c.2116C>G	c.(2116-2118)Caa>Gaa	p.Q706E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	706					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCCTCATTTGAGAATACTGT	0.358000										HNSCC(32;0.087)			19	61					0	0	0.049695	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542878	154542878	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:154542878G>C	ENST00000409959.3	+	28	3785	c.3736G>C	c.(3736-3738)Gag>Cag	p.E1246Q	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1162Q|KIAA0922_ENST00000409663.3_Missense_Mutation_p.E1245Q	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1245						integral to membrane		p.E1098Q(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGTGACTTTGAGAGGTCTGA	0.428000													7	27					0	0	0.029380	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080513	40080513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:40080513C>T	ENST00000401624.1	+	36	6037	c.6037C>T	c.(6037-6039)Cct>Tct	p.P2013S	CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1978S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	0					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTACCGACACCTCCCAGGCC	0.637000													9	7					0	0	0.047766	0	0
WDR72	256764	broad.mit.edu	37	15	53907993	53907993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:53907993G>A	ENST00000396328.1	-	15	2649	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S	WDR72_ENST00000360509.5_Missense_Mutation_p.P804S|WDR72_ENST00000559418.1_Missense_Mutation_p.P814S|WDR72_ENST00000557913.1_Missense_Mutation_p.P801S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	804										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTCCCCATGGCAAAAGGCAA	0.363000													4	181					0	0	0.009096	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887212	128887212	+	Silent	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chrX:128887212C>G	ENST00000371106.3	+	11	1287	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	365					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCCTCCTCAAGGCCAGCC	0.537000													33	51					0	0	0.059317	0	0
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:127790688C>A	ENST00000336505.5	-	5	454	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	132	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.Q155H(9)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338000													5	63					2.7689e-08	3.07901e-08	0.029380	1	0
FLNA	2316	broad.mit.edu	37	X	153591106	153591106	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chrX:153591106C>A	ENST00000422373.1	-	16	2575	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	FLNA_ENST00000344736.4_Missense_Mutation_p.G776V|FLNA_ENST00000369850.3_Missense_Mutation_p.G776V|FLNA_ENST00000360319.4_Missense_Mutation_p.G776V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACTCCGGGGCCGTATACTTT	0.637000													8	1					0.0381472	0.0395706	0.038147	1	0
TRGV2	6974	broad.mit.edu	37	7	38402614	38402614	+	RNA	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:38402614C>A	ENST00000426402.2	-	0	394																											TTGTAGGAGTCATAGTACTGA	0.468000													11	37					6.40141e-05	6.84459e-05	0.010729	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764535	140764535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140764535C>T	ENST00000518325.1	+	1	2069	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGACCTCACGTTGTACCTG	0.632000													27	27					0	0	0.034045	0	0
SEZ6	124925	broad.mit.edu	37	17	27287979	27287979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:27287979C>G	ENST00000317338.12	-	6	1681	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	SEZ6_ENST00000335960.6_Missense_Mutation_p.G418A|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.G418A|SEZ6_ENST00000360295.9_Missense_Mutation_p.G418A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	418	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCGGATCACTCCGCCGCAAGC	0.607000													23	113					0	0	0.018920	0	0
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:17611496G>T	ENST00000381869.3	-	2	2294	c.1821C>A	c.(1819-1821)gcC>gcA	p.A607A	MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000262102.6_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433000													109	35					4.07119e-57	4.79573e-57	0.048971	1	0
ZNF33A	7581	broad.mit.edu	37	10	38299706	38299706	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:38299706A>T	ENST00000432900.2	+	1	124	c.25A>T	c.(25-27)Agt>Tgt	p.S9C	ZNF33A_ENST00000374618.3_5'UTR|ZNF33A_ENST00000469037.2_5'UTR|ZNF33A_ENST00000458705.2_5'UTR|ZNF33A_ENST00000476504.1_3'UTR			Q06730	ZN33A_HUMAN	zinc finger protein 33A	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCGACGAGGGAGTGGGGTAAG	0.642000													5	27					0	0	0.038147	0	0
ZNF687	57592	broad.mit.edu	37	1	151260525	151260525	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:151260525G>A	ENST00000368879.2	+	2	1856	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGAACACAAGGACAAGGGGC	0.607000													13	53					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179647599	179647599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179647599G>A	ENST00000589042.1	-	18	3258	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R966*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1012*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1012*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R966*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R966*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R1012*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1012	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1012*(2)		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)			CAAGTAAATCGCCCGCTGTCT	0.502000													20	29					0	0	0.055883	0	0
NEK4	6787	broad.mit.edu	37	3	52797518	52797518	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:52797518C>T	ENST00000233027.5	-	5	991	c.789G>A	c.(787-789)cgG>cgA	p.R263R	NEK4_ENST00000383721.4_Silent_p.R263R|NEK4_ENST00000535191.1_Silent_p.R174R	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	263					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGGAGATTTGCCGCTTTATAT	0.468000													5	211					0	0	0.014758	0	0
CSMD1	64478	broad.mit.edu	37	8	3611465	3611465	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:3611465G>A	ENST00000520002.1	-	6	1473	c.918C>T	c.(916-918)aaC>aaT	p.N306N	CSMD1_ENST00000602723.1_Silent_p.N306N|CSMD1_ENST00000539096.1_Silent_p.N306N|CSMD1_ENST00000602557.1_Silent_p.N306N|CSMD1_ENST00000400186.3_Silent_p.N306N|CSMD1_ENST00000542608.1_Silent_p.N306N|CSMD1_ENST00000537824.1_Silent_p.N306N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	306	CUB 2.					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)		GGAACTGAGCGTTAAATCCTT	0.418000													19	8					0	0	0.038395	0	0
ACTL9	284382	broad.mit.edu	37	19	8807822	8807822	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:8807822G>A	ENST00000324436.3	-	1	1350	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	410						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCGGTACACGATATAGGGAC	0.632000													21	36					0	0	0.076483	0	0
EPHA8	2046	broad.mit.edu	37	1	22902848	22902848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:22902848G>A	ENST00000166244.3	+	3	370	c.298G>A	c.(298-300)Gag>Aag	p.E100K	EPHA8_ENST00000538803.1_Missense_Mutation_p.E100K|EPHA8_ENST00000374644.4_Missense_Mutation_p.E100K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	100						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTCTATGCTGAGATCAAGTT	0.612000													11	54					0	0	0.010729	0	0
SDF4	51150	broad.mit.edu	37	1	1164118	1164118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:1164118G>A	ENST00000263741.7	-	2	348	c.56C>T	c.(55-57)gCt>gTt	p.A19V	SDF4_ENST00000360001.6_Missense_Mutation_p.A19V|SDF4_ENST00000545427.1_Missense_Mutation_p.A19V|SDF4_ENST00000459994.2_5'UTR	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	19					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.A19V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCAGCACGGAGCCAGGCCAAT	0.692000													6	16					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	T	rs11575996		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7576853C>T	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)		GACTTAGTACCTGAAGGGTGA	0.453000		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)			18	41					0	0	0.038395	0	0
CHST6	4166	broad.mit.edu	37	16	75513510	75513510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:75513510C>T	ENST00000332272.4	-	3	396	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	CHST6_ENST00000390664.2_Missense_Mutation_p.A73T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	73					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGCCACGCGGGCTCCATT	0.662000													12	19					0	0	0.013537	0	0
MISP	126353	broad.mit.edu	37	19	758639	758639	+	Missense_Mutation	SNP	C	C	T	rs138693251		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:758639C>T	ENST00000215582.6	+	2	1796	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W		NM_173481.2	NP_775752.1			mitotic spindle positioning									p.R565W(1)									GGCAGAGGAGCGGAGAAATGC	0.607000													25	42					0	0	0.021523	0	0
GSN	2934	broad.mit.edu	37	9	124064328	124064328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:124064328C>A	ENST00000373823.3	+	10	984	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	GSN_ENST00000394353.2_Missense_Mutation_p.L38M|GSN_ENST00000373808.2_Missense_Mutation_p.L27M|GSN_ENST00000545652.1_Missense_Mutation_p.L35M|GSN_ENST00000341272.2_Missense_Mutation_p.L27M|GSN_ENST00000373818.4_Missense_Mutation_p.L78M|GSN_ENST00000412819.1_Missense_Mutation_p.L27M|GSN_ENST00000436847.1_Missense_Mutation_p.L38M|GSN_ENST00000449733.1_Missense_Mutation_p.L27M			P06396	GELS_HUMAN	gelsolin	78					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GAAGTTCGATCTGGTGCCCGT	0.572000													29	112					9.39395e-14	1.07029e-13	0.030593	1	0
FBXL18	80028	broad.mit.edu	37	7	5540952	5540952	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:5540952C>T	ENST00000382368.3	-	3	1071	c.948G>A	c.(946-948)ccG>ccA	p.P316P	FBXL18_ENST00000453700.3_Silent_p.P316P	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	316									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGAAGTAGAACGGGTTGTTGA	0.597000													12	15					0	0	0.010729	0	0
XXYLT1	152002	broad.mit.edu	37	3	194947478	194947478	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:194947478G>A	ENST00000310380.6	-	2	720	c.612C>T	c.(610-612)atC>atT	p.I204I	XXYLT1_ENST00000429994.1_Silent_p.I58I	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	204						integral to membrane	transferase activity, transferring glycosyl groups										AGAGGAAGAAGATGGAGTCAC	0.537000													8	67					0	0	0.047766	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079822	34079822	+	Silent	SNP	C	C	A	rs147495893	by1000genomes	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:34079822C>A	ENST00000254466.6	-	1	75	c.48G>T	c.(46-48)ccG>ccT	p.P16P	GAS2L2_ENST00000587565.1_Silent_p.P16P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	16					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCACACAGGCGGCCCTAGGG	0.657000													16	51					9.16793e-09	1.0277e-08	0.033300	1	0
SF3B3	23450	broad.mit.edu	37	16	70575707	70575707	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:70575707G>A	ENST00000302516.5	+	9	1414	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	401					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGATGAGTTGGACAGCCTCT	0.448000													4	188					0	0	0.014758	0	0
ATG10	83734	broad.mit.edu	37	5	81549160	81549160	+	Silent	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:81549160G>C	ENST00000282185.3	+	7	873	c.579G>C	c.(577-579)ctG>ctC	p.L193L	ATG10_ENST00000514253.2_Intron|ATG10_ENST00000458350.3_Silent_p.L193L	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	193					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CATCATGGCTGAGCATTGTAG	0.413000													14	57					0	0	0.020292	0	0
OR7D2	162998	broad.mit.edu	37	19	9296557	9296557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:9296557A>G	ENST00000344248.2	+	1	279	c.100A>G	c.(100-102)Atg>Gtg	p.M34V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	34					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M34V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTTCCTGTCCATGTACCTGGT	0.512000													3	27					0	0	0.004672	0	0
BIRC5	332	broad.mit.edu	37	17	76212078	76212078	+	Missense_Mutation	SNP	A	A	C	rs146071276		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:76212078A>C	ENST00000301633.4	+	3	384	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			cgcctgtaataccagcacttt	0.562000													5	52					0	0	0.014758	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667000													4	109					0	0	0.009096	0	0
PTN	5764	broad.mit.edu	37	7	136938277	136938277	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:136938277C>G	ENST00000348225.2	-	3	650	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PTN_ENST00000393083.2_Missense_Mutation_p.E75Q	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	75				E -> G (in Ref. 9; AAV38498).	nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.E75Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCTTGCACTCAGCTCCAGTC	0.537000													11	53					0	0	0.069234	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559041	140559041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140559041G>A	ENST00000239444.2	+	1	1671	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		476	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGTCAGCGCCACAGACAG	0.657000													18	122					0	0	0.024334	0	0
ALG1	56052	broad.mit.edu	37	16	5123195	5123195	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:5123195C>G	ENST00000262374.5	+	3	359	c.328C>G	c.(328-330)Cag>Gag	p.Q110E	ALG1_ENST00000544428.1_5'UTR|ALG1_ENST00000588623.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	110					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.Q110E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTGTACTTCAGGCTATGTA	0.517000													9	38					0	0	0.010729	0	0
PCLO	27445	broad.mit.edu	37	7	82579315	82579315	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:82579315G>A	ENST00000423517.2	-	6	10926	c.10589C>T	c.(10588-10590)cCa>cTa	p.P3530L	PCLO_ENST00000437081.1_Missense_Mutation_p.P250L|PCLO_ENST00000333891.8_Missense_Mutation_p.P3530L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3461					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTCCAACTGGTTCAGTTTG	0.463000													13	21					0	0	0.016723	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608276	84608276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:84608276G>A	ENST00000344803.2	+	4	2938	c.2891G>A	c.(2890-2892)cGt>cAt	p.R964H		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTAAGTCCCGTAGTCGAAGC	0.517000													47	90					0	0	0.048971	0	0
WWC1	23286	broad.mit.edu	37	5	167896016	167896016	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:167896016C>T	ENST00000265293.4	+	23	3838	c.3336C>T	c.(3334-3336)gaC>gaT	p.D1112D	WWC1_ENST00000521089.1_Silent_p.D1118D	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1112	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGCAGATGACGTCTAATCGC	0.453000													8	24					0	0	0.038147	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62632017	62632017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:62632017C>T	ENST00000337910.5	-	10	2184	c.1847G>A	c.(1846-1848)tGt>tAt	p.C616Y	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.C616Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGGTGCAAACACCAGGCGGC	0.468000													11	53					0	0	0.010729	0	0
ZNF534	147658	broad.mit.edu	37	19	52941603	52941603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:52941603C>A	ENST00000332323.6	+	4	990	c.929C>A	c.(928-930)cCt>cAt	p.P310H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.P297H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGAGAAGCCTTACAAATGT	0.393000													5	28					0.000602214	0.00063415	0.014758	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138714065	138714065	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:138714065C>G	ENST00000389532.4	-	11	2506	c.2442G>C	c.(2440-2442)atG>atC	p.M814I	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M536I|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M825I|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	814						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAAAGCTGGTCATCTTCACGC	0.587000													18	101					0	0	0.038395	0	0
IL3	3562	broad.mit.edu	37	5	131398259	131398259	+	Splice_Site	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:131398259C>T	ENST00000296870.2	+	4	513	c.336_splice	c.e4+1	p.T112_splice		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	112					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCCGCACCCACggtaagctgt	0.562000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	137					0	0	0.045705	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7577082C>T	ENST00000420246.2	-	8	988	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000269305.4_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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	20					0	0	0.062417	0	0
GRM6	2916	broad.mit.edu	37	5	178416069	178416069	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:178416069C>T	ENST00000231188.5	-	6	1399	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.A407A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					detection of visible light|visual perception	integral to plasma membrane		p.A407A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGCGTACACCGCATCAATCA	0.647000													4	17					0	0	0.021553	0	0
LAMA1	284217	broad.mit.edu	37	18	7044739	7044739	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr18:7044739A>G	ENST00000389658.3	-	7	1051	c.958T>C	c.(958-960)Tcc>Ccc	p.S320P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	320	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTATTGCCGGAGGACACGGTT	0.468000													22	120					0	0	0.062417	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:99364768C>T	ENST00000354593.2	-	3	437	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308000													16	33					0	0	0.028581	0	0
G6PC3	92579	broad.mit.edu	37	17	42148497	42148497	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42148497T>C	ENST00000269097.4	+	1	395	c.164T>C	c.(163-165)aTc>aCc	p.I55T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	55					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTGTGGGCATCGCGGTGCTC	0.612000													10	26					0	0	0.016723	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409052	79409052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:79409052G>A	ENST00000307745.7	+	9	677	c.677G>A	c.(676-678)aGa>aAa	p.R226K																								GAGCTGGGCAGAGAGAAGGCG	0.692000													6	22					0	0	0.021553	0	0
OSBPL8	114882	broad.mit.edu	37	12	76767187	76767187	+	Silent	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:76767187A>G	ENST00000261183.3	-	18	2333	c.1854T>C	c.(1852-1854)gtT>gtC	p.V618V	OSBPL8_ENST00000393249.2_Silent_p.V576V|OSBPL8_ENST00000393250.4_Silent_p.V576V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	618					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATATTTGATTAACACAGTCAC	0.294000													3	65					0	0	0.021553	0	0
SMYD5	10322	broad.mit.edu	37	2	73447180	73447180	+	Splice_Site	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:73447180C>T	ENST00000389501.4	+	3	252	c.205_splice	c.e3-1	p.A69_splice	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	69							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CACCGTCAGCCTGTGACCACT	0.567000													20	27					0	0	0.055883	0	0
NEB	4703	broad.mit.edu	37	2	152539188	152539188	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:152539188G>A	ENST00000397345.3	-	29	3133	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	NEB_ENST00000409198.1_Silent_p.D977D|NEB_ENST00000172853.10_Silent_p.D977D|NEB_ENST00000604864.1_Silent_p.D977D|NEB_ENST00000603639.1_Silent_p.D977D|NEB_ENST00000427231.2_Silent_p.D977D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	977					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGAGGATGTCTGAAGCTC	0.468000													13	10					0	0	0.016723	0	0
FGFR2	2263	broad.mit.edu	37	10	123274743	123274743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:123274743A>G	ENST00000358487.5	-	9	1447	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	FGFR2_ENST00000351936.6_Missense_Mutation_p.V392A|FGFR2_ENST00000478859.1_Missense_Mutation_p.V164A|FGFR2_ENST00000356226.4_Missense_Mutation_p.V277A|FGFR2_ENST00000357555.5_Missense_Mutation_p.V303A|FGFR2_ENST00000346997.2_Missense_Mutation_p.V392A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V393A|FGFR2_ENST00000369056.1_Missense_Mutation_p.V393A|FGFR2_ENST00000369059.1_Missense_Mutation_p.V278A|FGFR2_ENST00000360144.3_Missense_Mutation_p.V304A|FGFR2_ENST00000369061.4_Missense_Mutation_p.V280A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	392					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.V392A(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GACTGTTACCACCATACAGGC	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				29	37					0	0	0.041601	0	0
ABCD3	5825	broad.mit.edu	37	1	94953518	94953518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:94953518G>A	ENST00000370214.4	+	13	1160	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.R306H|ABCD3_ENST00000454898.2_Missense_Mutation_p.R403H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	379					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGCTGGGCGTGAAATGACT	0.323000													17	72					0	0	0.033300	0	0
NLGN2	57555	broad.mit.edu	37	17	7319416	7319416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7319416G>A	ENST00000302926.2	+	6	1697	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	NLGN2_ENST00000575301.1_Missense_Mutation_p.A542T	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	542					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GACCAACTTCGCCAAGACTGG	0.632000													12	25					0	0	0.013537	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902408	74902408	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:74902408C>T	ENST00000357877.2	+	10	1418	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	SEMA4F_ENST00000339773.5_Silent_p.G268G|SEMA4F_ENST00000473350.1_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	423	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGCTGATGGCCACCCCCTGC	0.587000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	0.029380	0	0
ZNF653	115950	broad.mit.edu	37	19	11598501	11598501	+	Silent	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:11598501G>T	ENST00000293771.5	-	4	913	c.777C>A	c.(775-777)acC>acA	p.T259T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCACAGCGGGGTACCCTGCT	0.682000													26	47					8.24728e-16	9.47415e-16	0.024334	1	0
HN1L	90861	broad.mit.edu	37	16	1747824	1747824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:1747824C>G	ENST00000248098.3	+	4	405	c.348C>G	c.(346-348)ttC>ttG	p.F116L	HN1L_ENST00000569765.1_Missense_Mutation_p.L97V|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Missense_Mutation_p.L69V|HN1L_ENST00000382711.5_Missense_Mutation_p.F100L|HN1L_ENST00000382710.4_Missense_Mutation_p.F104L|HN1L_ENST00000562684.1_Missense_Mutation_p.F144L	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	116						cytoplasm|nucleus		p.F116L(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATCATGTTTTCTTATGTGAAG	0.393000													28	80					0	0	0.034045	0	0
EMC6	83460	broad.mit.edu	37	17	3572587	3572587	+	Silent	SNP	C	C	G	rs1148572		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:3572587C>G	ENST00000397133.2	+	2	387	c.147C>G	c.(145-147)ctC>ctG	p.L49L	EMC6_ENST00000248378.5_Silent_p.L49L|RP11-48B14.2_ENST00000550383.1_3'UTR	NM_001014764.1	NP_001014764.1			ER membrane protein complex subunit 6																		TCACCGGCCTCTACGGCTTCA	0.637000													11	30					0	0	0.010729	0	0
ZNF488	118738	broad.mit.edu	37	10	48370659	48370659	+	Missense_Mutation	SNP	C	C	T	rs149252316		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:48370659C>T	ENST00000395702.2	+	2	354	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.R43W			Q96MN9	ZN488_HUMAN	zinc finger protein 488	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGAGCTGGGCCGGGGCTGCAA	0.677000													13	64					0	0	0.020292	0	0
ZNF883	169834	broad.mit.edu	37	9	115760008	115760008	+	RNA	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:115760008C>T	ENST00000427548.1	-	0	1805							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGGATTTTTCCTCAGAATGA	0.403000													21	27					0	0	0.069288	0	0
COL1A2	1278	broad.mit.edu	37	7	94056511	94056511	+	Silent	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:94056511T>C	ENST00000297268.6	+	48	3642	c.3171T>C	c.(3169-3171)ggT>ggC	p.G1057G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1057					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCCCTGCTGGTCCTTCTGGCC	0.587000										HNSCC(75;0.22)			7	12					0	0	0.038147	0	0
ITIH1	3697	broad.mit.edu	37	3	52819104	52819104	+	Silent	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:52819104T>C	ENST00000273283.2	+	12	1476	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	ITIH1_ENST00000542827.1_Silent_p.D484D|ITIH1_ENST00000540715.1_Silent_p.D342D|ITIH1_ENST00000537050.1_Silent_p.D196D	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	484	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGGATGTGGATTTGCAGTACC	0.562000													22	44					0	0	0.076483	0	0
MPG	4350	broad.mit.edu	37	16	129429	129429	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:129429C>T	ENST00000219431.4	+	3	276	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_5'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	15					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TACAGTTTTGCCGACGGATGG	0.547000								Base excision repair (BER), DNA glycosylases					3	49					0	0	0.004672	0	0
SUCLA2	8803	broad.mit.edu	37	13	48528631	48528631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:48528631G>C	ENST00000378654.3	-	7	920	c.864C>G	c.(862-864)atC>atG	p.I288M	SUCLA2_ENST00000543413.1_Missense_Mutation_p.I230M|SUCLA2_ENST00000534875.1_Missense_Mutation_p.I230M|SUCLA2_ENST00000544100.1_Missense_Mutation_p.I154M	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	288	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GTAGATCAAAGATTTTCTTTT	0.393000													13	42					0	0	0.016723	0	0
CPT1A	1374	broad.mit.edu	37	11	68566776	68566776	+	Silent	SNP	C	C	T	rs143731699		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:68566776C>T	ENST00000265641.5	-	6	757	c.603G>A	c.(601-603)cgG>cgA	p.R201R	CPT1A_ENST00000376618.2_Silent_p.R201R|CPT1A_ENST00000540367.1_Silent_p.R201R|CPT1A_ENST00000539743.1_Silent_p.R201R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	201					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)	GTGCTGTCATCCGTTTGAAGT	0.393000													86	137					0	0	0.048971	0	0
USP53	54532	broad.mit.edu	37	4	120213723	120213723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:120213723C>T	ENST00000450251.1	+	15	3123	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	USP53_ENST00000274030.6_Missense_Mutation_p.S860F			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	860					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AATGAACCATCTTCATTATGG	0.388000													18	42					0	0	0.043863	0	0
ZNF761	388561	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	by1000genomes	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:53945837T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACCAGACTTTGCTTGACCT	0.512000													4	49					0	0	0.021553	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794206	111794206	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:111794206G>C	ENST00000452346.2	+	15	1825	c.1822G>C	c.(1822-1824)Gga>Cga	p.G608R	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G482R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	608	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGCATCATCGGAGGCACAGA	0.552000													7	180					0	0	0.029380	0	0
GUF1	60558	broad.mit.edu	37	4	44688655	44688655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:44688655C>T	ENST00000281543.5	+	8	1057	c.863C>T	c.(862-864)tCt>tTt	p.S288F	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	288					translation	mitochondrial inner membrane	GTP binding|GTPase activity	p.S288F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAATTGTATCTGCACATACT	0.363000													15	90					0	0	0.028581	0	0
NLRP3	114548	broad.mit.edu	37	1	247597516	247597516	+	Silent	SNP	C	C	T	rs143175395		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:247597516C>T	ENST00000366497.2	+	6	3219	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	NLRP3_ENST00000348069.2_Silent_p.F756F|NLRP3_ENST00000391827.2_Silent_p.F756F|NLRP3_ENST00000366496.2_Silent_p.F813F|NLRP3_ENST00000391828.3_Silent_p.F813F|NLRP3_ENST00000336119.3_Silent_p.F813F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	870					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCGGTGACTTCGGAATCAGAC	0.567000													60	32					0	0	0.048971	0	0
CACTIN	58509	broad.mit.edu	37	19	3613305	3613305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:3613305C>T	ENST00000429344.2	-	9	1589	c.1537G>A	c.(1537-1539)Gcg>Acg	p.A513T	CACTIN_ENST00000248420.5_Missense_Mutation_p.A513T|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.A445T	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCGGCCTCCGCGGGGCCGCCC	0.781000													8	9					0	0	0.047766	0	0
FAT4	79633	broad.mit.edu	37	4	126240974	126240974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:126240974G>C	ENST00000394329.3	+	1	3421	c.3408G>C	c.(3406-3408)agG>agC	p.R1136S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1136	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGAAGTAAGGTATTCTTTTG	0.433000													29	131					0	0	0.034045	0	0
ABL2	27	broad.mit.edu	37	1	179077623	179077632	+	Frame_Shift_Del	DEL	GAGTGGTTGG	GAGTGGTTGG	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:179077623_179077632delGAGTGGTTGG	ENST00000502732.1	-	12	2973_2982	c.2770_2779delCCAACCACTC	c.(2770-2781)acfs	p.PTTH924fs	ABL2_ENST00000344730.3_Frame_Shift_Del_p.PTTH806fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.PTTH785fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.PTTH903fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.PTTH800fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.PTTH821fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.PTTH909fs|ABL2_ENST00000408940.3_Frame_Shift_Del_p.PTTH888fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	924	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGTGGTTGTGAGTGGTTGGGAGGACGGGG	0.557			T	ETV6	AML								8	81	---	---	---	---					
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	RNA	INS	-	-	A	rs71402229		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252													3	5	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													11	203	---	---	---	---					
RP11-659O3.1	0	broad.mit.edu	37	4	117017472	117017472	+	RNA	DEL	G	G	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:117017472delG	ENST00000509983.1	-	0	690																											GCAGTAGCCTGGGGGATACAG	0.318													2	4	---	---	---	---					
PTCHD3	374308	broad.mit.edu	37	10	27702894	27702923	+	In_Frame_Del	DEL	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	-	rs34349277		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:27702894_27702923delGGGGTGCATCGTCCAGCTCCAGCGGCAGGC	ENST00000438700.3	-	1	374_403	c.257_286delGCCTGCCGCTGGAGCTGGACGATGCACCCC	c.(256-288)ctg>c	p.RLPLELDDAPL86del		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	86					spermatid development	integral to membrane	hedgehog receptor activity	p.P88P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCTCCGGCAGGGGTGCATCGTCCAGCTCCAGCGGCAGGCGGGGTGCATC	0.704													10	30	---	---	---	---					
OR4C11	219429	broad.mit.edu	37	11	55371152	55371152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:55371152delT	ENST00000302231.4	-	1	722	c.698delA	c.(697-699)agfs	p.K233fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGAGAGAGCCTTTTTCTTCCC	0.418													47	7	---	---	---	---					
MGAT2	4247	broad.mit.edu	37	14	50088320	50088321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:50088320_50088321insC	ENST00000305386.2	+	1	832_833	c.334_335insC	c.(334-336)ctgfs	p.L112fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	112					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGGCTGGCACCTGGGCCCCC	0.614													7	268	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705745	100705749	+	Frame_Shift_Del	DEL	GCGGT	GCGGT	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:100705745_100705749delGCGGT	ENST00000262238.4	+	1	424_428	c.164_168delGCGGT	c.(163-168)gfs	p.GG55fs		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	55	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gaggacggcggcggtggcgaccacg	0.712													10	12	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876833	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:89876828_89876833delTGCTGC	ENST00000268124.5	-	2	486_491	c.153_158delGCAGCA	c.(151-159)caa>ca	p.QQQ51del	POLG_ENST00000442287.2_In_Frame_Del_p.QQQ51del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	51	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgctgct	0.694								DNA polymerases (catalytic subunits)					3	5	---	---	---	---					
FOSB	2354	broad.mit.edu	37	19	45974012	45974013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:45974012_45974013insC	ENST00000353609.3	+	2	844_845	c.252_253insC	c.(250-255)ggagccfs	p.A85fs	FOSB_ENST00000586615.1_Frame_Shift_Ins_p.A36fs|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Frame_Shift_Ins_p.A46fs|FOSB_ENST00000417353.2_Frame_Shift_Ins_p.A85fs|FOSB_ENST00000590335.1_Frame_Shift_Ins_p.A85fs|FOSB_ENST00000585836.1_Frame_Shift_Ins_p.A46fs|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592436.1_Frame_Shift_Ins_p.A85fs|FOSB_ENST00000592811.1_Frame_Shift_Ins_p.A36fs	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	85					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGTCCCAGGGGCAGCCACTGGC	0.658													27	197	---	---	---	---					
