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
UGT2B11	10720	broad.mit.edu	37	4	70071280	70071280	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:70071280C>A	ENST00000446444.1	-	4	1016	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	336					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAATCTCCACAGAACCTGTT	0.398000													39	95					9.14704e-12	1.26651e-11	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55406632	55406632	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:55406632A>T	ENST00000314612.2	+	1	799	c.799A>T	c.(799-801)Aaa>Taa	p.K267*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTCAGAAGATAAAGTGTTTGC	0.413000													16	65					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944795	20944795	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:20944795G>T	ENST00000261383.3	-	62	12031	c.12032C>A	c.(12031-12033)cCc>cAc	p.P4011H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4011					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCATCTTCGGGGTTATTCTC	0.483000													15	52					1.5739e-10	2.08993e-10	1	1	0
PUS7	54517	broad.mit.edu	37	7	105148651	105148651	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:105148651G>C	ENST00000356362.2	-	2	523	c.309C>G	c.(307-309)gaC>gaG	p.D103E	PUS7_ENST00000469408.1_Missense_Mutation_p.D103E	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	103					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GCTTCATCATGTCTGCAAAAC	0.458000													32	193					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104109661	104109661	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:104109661A>T	ENST00000388887.2	+	43	4810	c.4606A>T	c.(4606-4608)Aac>Tac	p.N1536Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1536	EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GACAGGACCCAACCAGGTGAG	0.512000													19	60					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775277	38775277	+	Silent	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:38775277A>T	ENST00000308973.4	-	4	2540	c.1935T>A	c.(1933-1935)tcT>tcA	p.S645S	TLR10_ENST00000361424.2_Silent_p.S645S|TLR10_ENST00000508334.1_Silent_p.S645S|TLR10_ENST00000506111.1_Silent_p.S645S	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	645	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCACCCACAGAGAATCATGTT	0.398000													8	49					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21288427	21288427	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:21288427G>T	ENST00000354336.3	+	2	1181	c.672G>T	c.(670-672)ggG>ggT	p.G224G		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	224					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GTTCTCCTGGGGCAGCAATCA	0.498000													27	80					5.77227e-19	8.86358e-19	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103400109	103400109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:103400109C>A	ENST00000358392.2	-	46	3849	c.3532G>T	c.(3532-3534)Ggt>Tgt	p.G1178C	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1050C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1127C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1166C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1166	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCATCACCTCCCTAGAGA	0.433000													27	24					7.38237e-10	9.60597e-10	1	1	0
KIR3DX1	90011	broad.mit.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562000													14	106					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161137705	161137705	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:161137705T>C	ENST00000308192.9	+	7	760	c.697T>C	c.(697-699)Tac>Cac	p.Y233H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	233	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGAAGAATTACTGTCGTAA	0.453000													11	37					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850175	58850175	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:58850175G>T	ENST00000329665.4	+	3	1106	c.959G>T	c.(958-960)gGg>gTg	p.G320V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCACACAGGGGCGAAGCCC	0.567000													23	108					5.26018e-13	7.44235e-13	1	1	0
MED14	9282	broad.mit.edu	37	X	40513717	40513717	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:40513717T>A	ENST00000324817.1	-	30	4308	c.4190A>T	c.(4189-4191)cAg>cTg	p.Q1397L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1397					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTGCCTGCTGGGTTGTACC	0.453000													12	40					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149496933	149496933	+	RNA	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:149496933G>C	ENST00000378016.2	+	0	6973							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACAAGGCCCGTGAGTCCTGG	0.652000													7	18					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123288	135123288	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:135123288C>T	ENST00000359035.3	+	3	239	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ZNF511_ENST00000368554.4_Missense_Mutation_p.A14V|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.A79V			Q8NB15	ZN511_HUMAN	zinc finger protein 511	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGGGTGCCCGCGTTTGCCTGC	0.587000													7	59					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316472	43316472	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:43316472C>A	ENST00000321925.4	+	6	754	c.522C>A	c.(520-522)ccC>ccA	p.P174P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Silent_p.P66P|SLC14A1_ENST00000589700.1_Silent_p.P174P|SLC14A1_ENST00000436407.3_Silent_p.P230P|SLC14A1_ENST00000591943.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Silent_p.P174P|SLC14A1_ENST00000535474.1_Silent_p.P42P|SLC14A1_ENST00000415427.3_Silent_p.P230P|SLC14A1_ENST00000402943.2_Silent_p.P69P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	174						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGACCTCCCCGTCTTCACCC	0.438000													33	75					3.03874e-20	4.72207e-20	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103529	53103529	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:53103529G>T	ENST00000408890.4	+	1	181	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	55										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGGCCCCTGAGGTCCCTGA	0.697000													21	80					7.41877e-09	9.50072e-09	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61986763	61986763	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:61986763T>C	ENST00000409186.1	-	5	3574	c.1469A>G	c.(1468-1470)gAg>gGg	p.E490G	PCDH20_ENST00000409204.4_Missense_Mutation_p.E490G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	463	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTTGTGGTCTCTAGTAAATA	0.408000													6	114					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759293	54759293	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:54759293G>T	ENST00000450632.1	-	5	858	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	LILRB5_ENST00000345866.6_Missense_Mutation_p.Q170K|LILRB5_ENST00000316219.5_Missense_Mutation_p.Q270K|LILRB5_ENST00000449561.2_Missense_Mutation_p.Q270K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCTGGGGCTGCTGGCCAGAG	0.637000													16	59					1.62849e-17	2.44274e-17	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69049865	69049865	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:69049865C>A	ENST00000295381.3	+	10	2010	c.1591C>A	c.(1591-1593)Ctt>Att	p.L531I	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.L225I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.L532I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.L492I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.L525I|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.L524I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	531					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGGAGATACTCTTGCCAGTCC	0.517000													26	99					9.39395e-14	1.34081e-13	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101670625	101670625	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:101670625C>A	ENST00000409318.1	-	4	706	c.576G>T	c.(574-576)tgG>tgT	p.W192C	TBC1D8_ENST00000376840.4_Missense_Mutation_p.W177C	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	177	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGAGGTACAGCCAGCCCTGGC	0.587000													7	25					3.09899e-07	3.7747e-07	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11737984	11737984	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:11737984C>T	ENST00000262442.3	+	49	9344	c.9276C>T	c.(9274-9276)gcC>gcT	p.A3092A	DNAH9_ENST00000454412.2_Silent_p.A3092A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3092	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCTGGCTGCCCAGGAAGTAG	0.512000													6	23					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666555	34666555	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:34666555T>A	ENST00000488417.1	+	3	1312	c.1192T>A	c.(1192-1194)Ttc>Atc	p.F398I	C1orf94_ENST00000373374.3_Missense_Mutation_p.F208I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	208							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTCTATGAGTTCCTTGGGGC	0.582000													7	31					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69104607	69104607	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:69104607G>C	ENST00000288368.4	+	37	4728	c.4451G>C	c.(4450-4452)cGa>cCa	p.R1484P		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1484					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAACTTTACCGACTGGTAGCC	0.458000													5	37					0	0	1	0	0
CTGF	1490	broad.mit.edu	37	6	132270526	132270526	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:132270526C>A	ENST00000367976.3	-	5	1128	c.928G>T	c.(928-930)Ggc>Tgc	p.G310C		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	310	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATGACCTCGCCGTCAGGGCAC	0.522000													76	92					2.48295e-43	4.05277e-43	1	1	0
SYTL1	84958	broad.mit.edu	37	1	27677309	27677309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:27677309C>T	ENST00000543823.1	+	10	1492	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	SYTL1_ENST00000318074.5_Nonsense_Mutation_p.Q332*|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	344	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGAGCTTCAGGGCCGCGT	0.642000													7	73					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944192	50944192	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:50944192T>C	ENST00000374103.4	-	22	2871	c.2786A>G	c.(2785-2787)cAg>cGg	p.Q929R	OGDHL_ENST00000419399.1_Missense_Mutation_p.Q872R|OGDHL_ENST00000432695.1_Missense_Mutation_p.Q720R|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	929					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTCTGCCTCCTGCTTGATCAG	0.582000													5	21					0	0	1	0	0
LOC440700	440700	broad.mit.edu	37	1	165678714	165678714	+	RNA	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:165678714C>A	ENST00000400982.2	+	0	725					NR_036683.1																						ATCAGAAGAGCGTGGTCATCA	0.512000													32	23					1.88708e-17	2.81758e-17	1	1	0
TAF5	6877	broad.mit.edu	37	10	105143084	105143084	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:105143084C>T	ENST00000369839.3	+	7	1647	c.1624C>T	c.(1624-1626)Cac>Tac	p.H542Y	TAF5_ENST00000351396.4_Missense_Mutation_p.H542Y	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	542					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTTGTATGGTCACAGTGGGCC	0.333000													11	42					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326540	158326540	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:158326540C>T	ENST00000444681.2	+	5	1017	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	CD1E_ENST00000368167.3_Missense_Mutation_p.P341S|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368165.3_Missense_Mutation_p.P251S|CD1E_ENST00000452291.2_Missense_Mutation_p.P152S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368154.1_Missense_Mutation_p.P97S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	341	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATTCTTTCTCCCCACACACC	0.408000													7	151					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21904225	21904225	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:21904225C>T	ENST00000328843.6	+	71	11498	c.11467C>T	c.(11467-11469)Cat>Tat	p.H3823Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3816Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3823					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAACACACTCATCTGAGTCC	0.358000									Kartagener syndrome				9	94					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193241	179193241	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:179193241G>T	ENST00000292599.3	+	2	1493	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	410					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGCGAGCAGATGCTCCAGA	0.647000													37	138					9.45814e-24	1.48399e-23	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168107643	168107643	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:168107643T>C	ENST00000409195.1	+	9	9830	c.9741T>C	c.(9739-9741)gcT>gcC	p.A3247A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.A3025A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.A3247A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3072					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAATCATGCTGCTAGTGGTT	0.413000													19	73					0	0	1	0	0
MRPS6	64968	broad.mit.edu	37	21	35514759	35514759	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:35514759G>C	ENST00000399312.2	+	3	415	c.237G>C	c.(235-237)gtG>gtC	p.V79V	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	79					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						AAAGCATGGTGGAGCACTTGT	0.408000													11	67					0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71419504	71419504	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:71419504C>G	ENST00000302628.4	+	10	729	c.652C>G	c.(652-654)Cat>Gat	p.H218D	CALB2_ENST00000349553.5_Missense_Mutation_p.S186R	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	218	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CATTGACGAGCATGAGCTGGA	0.577000													7	28					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169670752	169670752	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:169670752C>A	ENST00000236147.4	-	7	1229	c.1069G>T	c.(1069-1071)Gca>Tca	p.A357S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	344					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CCAGAGAATGCAGTAACCATG	0.373000													3	16					0.150653	0.152299	1	1	0
PPFIA3	8541	broad.mit.edu	37	19	49639080	49639080	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:49639080C>T	ENST00000334186.4	+	14	1914	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.P522L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	522						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTCAGGCACCCACTTTACCT	0.617000													28	82					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188123966	188123966	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:188123966C>T	ENST00000312675.4	+	3	304	c.58C>T	c.(58-60)Cct>Tct	p.P20S	LPP_ENST00000448637.1_Missense_Mutation_p.P20S|LPP_ENST00000543006.1_Missense_Mutation_p.P20S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	20					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CGGCCATGTGCCTGCACGGAT	0.507000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								52	227					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37170183	37170183	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:37170183C>T	ENST00000274258.7	-	33	6649	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	C5orf42_ENST00000425232.2_Missense_Mutation_p.G2141E|C5orf42_ENST00000508244.1_Missense_Mutation_p.G2141E			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2141										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAGTTCCTTCATGGCA	0.443000													134	230					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61188604	61188604	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:61188604C>G	ENST00000316752.6	-	10	1129	c.868G>C	c.(868-870)Gtg>Ctg	p.V290L	PUS10_ENST00000407787.1_Missense_Mutation_p.V290L	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	290					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTACCAGCCACAAAAACAGCA	0.363000													57	255					0	0	1	0	0
FTH1P10	2502	broad.mit.edu	37	5	17354012	17354012	+	RNA	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:17354012G>T	ENST00000401830.3	-	0	721					NR_002201.1																						CTCCCAGGGTGTGCTGGTCAA	0.517000													17	37					7.41877e-09	9.50072e-09	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64819085	64819085	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:64819085C>T	ENST00000422803.1	+	10	3044	c.2730C>T	c.(2728-2730)gaC>gaT	p.D910D	AFTPH_ENST00000409183.1_Silent_p.D541D|AFTPH_ENST00000238855.7_Silent_p.D909D|AFTPH_ENST00000238856.4_Silent_p.D882D|AFTPH_ENST00000409933.1_Silent_p.D909D			Q6ULP2	AFTIN_HUMAN	aftiphilin	910					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCCTTCCTGACTTAACATTCA	0.428000													26	81					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940653	1940653	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:1940653G>T	ENST00000543818.1	+	4	1462	c.620G>T	c.(619-621)cGt>cTt	p.R207L	LRTM2_ENST00000535041.1_Missense_Mutation_p.R207L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R207L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	207	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGTAACCTGCGTGAGTTCAAA	0.602000													19	86					3.8784e-16	5.68599e-16	1	1	0
FCGR1A	2209	broad.mit.edu	37	1	149762922	149762922	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:149762922T>A	ENST00000369168.4	+	6	1028	c.974T>A	c.(973-975)tTa>tAa	p.L325*	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	325	Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGTGGGATTTAGAAATCTCT	0.368000													164	88					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323999	31323999	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:31323999G>A	ENST00000269197.5	+	12	4187	c.4187G>A	c.(4186-4188)aGc>aAc	p.S1396N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGCCCTCAGCTGCAGTGAT	0.478000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	151					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298963	58298963	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:58298963G>T	ENST00000377918.3	+	4	3041	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1005					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAAAGACAAGCGAGAGCACA	0.443000													14	45					1.5842e-08	2.005e-08	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755487	140755487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140755487G>T	ENST00000517434.1	+	1	1837	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_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)			CAAGGCCAGCGAGCCAGGACT	0.687000													23	125					6.44725e-10	8.42302e-10	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26493142	26493142	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:26493142C>G	ENST00000381340.3	-	56	8393	c.7977G>C	c.(7975-7977)ctG>ctC	p.L2659L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2659					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGTTTGACCAGACTCATGG	0.547000													34	52					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870788	50870788	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:50870788C>A	ENST00000395562.2	+	15	2160	c.1691C>A	c.(1690-1692)aCc>aAc	p.T564N	CHAT_ENST00000339797.1_Missense_Mutation_p.T528N|CHAT_ENST00000351556.3_Missense_Mutation_p.T528N|CHAT_ENST00000337653.2_Missense_Mutation_p.T646N|CHAT_ENST00000395559.2_Missense_Mutation_p.T528N|CHAT_ENST00000455728.2_Missense_Mutation_p.T528N	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	646					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGGATGAAACCTACCTGATG	0.567000													20	93					2.89027e-11	3.9264e-11	1	1	0
HR	55806	broad.mit.edu	37	8	21978604	21978604	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:21978604C>A	ENST00000381418.4	-	10	3821	c.2341G>T	c.(2341-2343)Gcc>Tcc	p.A781S	HR_ENST00000312841.8_Missense_Mutation_p.A781S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	781							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGACGGGGGCGAAGGCCATG	0.672000													21	90					2.4624e-09	3.17223e-09	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35513645	35513645	+	Missense_Mutation	SNP	C	C	A	rs146419823	byFrequency	TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:35513645C>A	ENST00000378880.2	-	3	772	c.327G>T	c.(325-327)aaG>aaT	p.K109N	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Missense_Mutation_p.K109N|PAMR1_ENST00000278360.3_Missense_Mutation_p.K109N|PAMR1_ENST00000532848.1_Missense_Mutation_p.K69N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	109					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTAGAACCCCTTCACATAGA	0.502000													116	217					1.84609e-46	3.02853e-46	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7748960	7748960	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:7748960T>C	ENST00000254846.5	+	4	477	c.88T>C	c.(88-90)Tcc>Ccc	p.S30P	KDM6B_ENST00000448097.2_Missense_Mutation_p.S30P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	30					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GGCCTGGAGCTCCTGCCCGCC	0.662000													24	90					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27902412	27902412	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:27902412G>C	ENST00000225394.3	-	18	2151	c.1903C>G	c.(1903-1905)Cta>Gta	p.L635V	GIT1_ENST00000394869.3_Missense_Mutation_p.L644V|GIT1_ENST00000581348.1_Missense_Mutation_p.L621V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.L635V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	635					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCAGGATCTAGGTCTCCATCC	0.547000													33	163					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083156	9083156	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9083156G>T	ENST00000397910.4	-	1	8862	c.8659C>A	c.(8659-8661)Cag>Aag	p.Q2887K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2888	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTAGACTGTGGGATCCCC	0.522000													15	18					1.05317e-09	1.36491e-09	1	1	0
GAS2	2620	broad.mit.edu	37	11	22833495	22833495	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:22833495A>T	ENST00000454584.2	+	8	1180	c.875A>T	c.(874-876)aAg>aTg	p.K292M	GAS2_ENST00000278187.3_Missense_Mutation_p.K292M|GAS2_ENST00000433790.1_Missense_Mutation_p.K292M	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	292					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAACTCTAAAGGACATGAAT	0.443000													11	69					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179501900	179501900	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:179501900A>C	ENST00000263966.3	+	21	3034	c.2563A>C	c.(2563-2565)Atg>Ctg	p.M855L	USP13_ENST00000496897.1_Missense_Mutation_p.M790L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	855					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCTGGGCTACATGTACTTTTA	0.373000													7	178					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319521	31319521	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:31319521C>A	ENST00000269197.5	+	11	2153	c.2153C>A	c.(2152-2154)cCg>cAg	p.P718Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	718	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAACCTCACCGATGTCTGAC	0.403000													47	265					2.6238e-40	4.25055e-40	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20029094	20029094	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:20029094C>G	ENST00000379651.3	-	15	2044	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D717H|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D561H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D631H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D624H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	676										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCATTTTGGTCCAGAGACACC	0.468000													14	37					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14661064	14661064	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:14661064A>T	ENST00000403951.2	-	15	1645	c.1226T>A	c.(1225-1227)gTg>gAg	p.V409E	DGKB_ENST00000444700.2_Missense_Mutation_p.V390E|DGKB_ENST00000258767.5_Missense_Mutation_p.V409E|DGKB_ENST00000407950.1_Missense_Mutation_p.V401E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.V409E|DGKB_ENST00000399322.3_Missense_Mutation_p.V409E|DGKB_ENST00000402815.1_Missense_Mutation_p.V408E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTTGTCAATCACTTTGTTTGG	0.308000													4	41					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72769122	72769122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:72769122C>A	ENST00000357814.3	-	4	320	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	NAT9_ENST00000580301.1_Nonsense_Mutation_p.E82*|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000578822.1_Nonsense_Mutation_p.E88*|NAT9_ENST00000583757.1_Nonsense_Mutation_p.E82*|NAT9_ENST00000581136.1_Nonsense_Mutation_p.E83*|NAT9_ENST00000580632.1_Nonsense_Mutation_p.E82*|NAT9_ENST00000582870.1_Nonsense_Mutation_p.E87*|NAT9_ENST00000582524.1_Nonsense_Mutation_p.E83*|NAT9_ENST00000583476.1_Nonsense_Mutation_p.E83*	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	83	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CAGCTCTCTTCGGTGGCGCCT	0.557000													7	33					0.000157383	0.000173738	1	1	0
TTYH1	57348	broad.mit.edu	37	19	54930319	54930319	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:54930319G>C	ENST00000301194.4	+	2	266	c.144G>C	c.(142-144)gcG>gcC	p.A48A	TTYH1_ENST00000376530.3_Silent_p.A48A|TTYH1_ENST00000376531.3_Silent_p.A48A|TTYH1_ENST00000391739.3_Silent_p.A97A			Q9H313	TTYH1_HUMAN	tweety family member 1	48					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGGTGGCGGCCTTGGCGG	0.672000													34	177					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320700	100320700	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:100320700C>A	ENST00000252723.2	+	5	707	c.526C>A	c.(526-528)Ctc>Atc	p.L176I		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	176					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTCCAATTTCCTCCGGGGAAA	0.577000													93	174					9.86815e-39	1.59465e-38	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075004	106075004	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:106075004A>T	ENST00000278071.2	-	3	1258	c.806T>A	c.(805-807)cTc>cAc	p.L269H	ITPRIP_ENST00000337478.1_Missense_Mutation_p.L269H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L269H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	269						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCGTGCAGGAGACACAGCAT	0.612000													10	37					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841639	100841639	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:100841639A>G	ENST00000223114.4	-	5	667	c.501T>C	c.(499-501)tgT>tgC	p.C167C	MOGAT3_ENST00000379423.3_Silent_p.C167C|MOGAT3_ENST00000440203.2_Silent_p.C167C	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	167					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCTCACCGGACAGAGTCCTG	0.657000													10	69					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420658	54420658	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:54420658T>A	ENST00000296733.1	-	9	1362	c.1188A>T	c.(1186-1188)aaA>aaT	p.K396N	CDC20B_ENST00000322374.6_Missense_Mutation_p.K396N|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.K396N	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	396										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GGGTTATGACTTTCAGCGGTT	0.517000													10	38					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1531625	1531625	+	Splice_Site	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:1531625C>G	ENST00000534940.1	-	12	1696	c.1471_splice	c.e12+1	p.G491_splice	ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000416733.2_Splice_Site_p.G473_splice|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL_ENST00000381333.4_Splice_Site_p.G533_splice|ASMTL_ENST00000381317.3_Splice_Site_p.G549_splice	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	549	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCTCTCACCTGGCTTGCAG	0.567000													48	307					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70535456	70535456	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:70535456G>T	ENST00000377844.4	-	3	1560	c.801C>A	c.(799-801)gtC>gtA	p.V267V	KLHL1_ENST00000545028.1_Silent_p.V74V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	267	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.V267V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGCAAATTGGACAAGGTCCC	0.373000													33	41					1.22384e-17	1.84001e-17	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49160414	49160414	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:49160414A>T	ENST00000418109.1	-	28	4460	c.4296T>A	c.(4294-4296)gaT>gaA	p.D1432E	LAMB2_ENST00000305544.4_Missense_Mutation_p.D1432E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1432	Domain alpha.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGGCTGCCCATCCTCATCTC	0.682000													6	30					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249152472	249152472	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:249152472G>T	ENST00000451251.1	-	2	397	c.52C>A	c.(52-54)Cgg>Agg	p.R18R	ZNF692_ENST00000427146.1_Silent_p.R13R|ZNF692_ENST00000306601.4_Silent_p.R13R|ZNF692_ENST00000366469.5_Silent_p.R13R|ZNF692_ENST00000366471.3_Silent_p.R13R|ZNF692_ENST00000391820.3_Silent_p.R13R	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTCTCCCGCCGCCTGCAGGAC	0.721000													5	20					0.184627	0.186353	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65787787	65787787	+	Splice_Site	SNP	C	C	T	rs146534093		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:65787787C>T	ENST00000312106.5	-	8	2202		c.e8+1			NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTCGGTACCTCCTGCTTC	0.617000													40	197					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31571664	31571664	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:31571664A>T	ENST00000356173.3	-	13	1168	c.1076T>A	c.(1075-1077)gTg>gAg	p.V359E	SUN5_ENST00000375523.3_Missense_Mutation_p.V334E	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	359	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						AGAGCCATGCACTCGCACGCG	0.567000													101	142					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756239	10756239	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:10756239C>A	ENST00000416569.2	-	3	1175	c.1149G>T	c.(1147-1149)caG>caT	p.Q383H	XKR6_ENST00000304437.2_Missense_Mutation_p.Q104H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	383						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAAAATAGAGCTGGAAGATGG	0.537000													9	34					1.12685e-05	1.30393e-05	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55944996	55944996	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:55944996A>T	ENST00000373965.2	-	13	1753	c.1359T>A	c.(1357-1359)aaT>aaA	p.N453K	PCDH15_ENST00000437009.1_Missense_Mutation_p.N446K|PCDH15_ENST00000373957.3_Missense_Mutation_p.N424K|PCDH15_ENST00000361849.3_Missense_Mutation_p.N446K|PCDH15_ENST00000373955.1_Missense_Mutation_p.N446K|PCDH15_ENST00000395432.2_Missense_Mutation_p.N409K|PCDH15_ENST00000409834.1_Missense_Mutation_p.N57K|PCDH15_ENST00000395433.1_Missense_Mutation_p.N424K|PCDH15_ENST00000320301.6_Missense_Mutation_p.N446K|PCDH15_ENST00000395445.1_Missense_Mutation_p.N453K|PCDH15_ENST00000395438.1_Missense_Mutation_p.N446K|PCDH15_ENST00000395446.1_Missense_Mutation_p.N446K|PCDH15_ENST00000395430.1_Missense_Mutation_p.N446K|PCDH15_ENST00000414778.1_Missense_Mutation_p.N451K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	446	Cadherin 4.				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			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)				AGGTGTAGTCATTCAGAAAAA	0.388000										HNSCC(58;0.16)			16	70					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103616	53103616	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:53103616G>A	ENST00000408890.4	+	1	268	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	84										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCCCACCCAGGACCCCGCCA	0.711000													4	50					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964068	88964068	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:88964068G>A	ENST00000333190.4	+	4	2381	c.1772G>A	c.(1771-1773)tGt>tAt	p.C591Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	591						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGGATTGTGCTGGAAAG	0.383000										HNSCC(36;0.09)			24	57					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884326	53884326	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:53884326A>T	ENST00000467003.1	+	4	587	c.386A>T	c.(385-387)gAg>gTg	p.E129V	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E165V|ZNF525_ENST00000475179.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						AATCAAGTGGAGAAGTCTATC	0.373000													27	97					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620129	77620129	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:77620129G>A	ENST00000521891.2	+	3	3387	c.2939G>A	c.(2938-2940)gGg>gAg	p.G980E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G954E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G954E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G954E|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	954						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G980V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTAAAGAAGGGGGCAAAAGC	0.433000										HNSCC(33;0.089)			24	103					0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138340358	138340358	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:138340358C>A	ENST00000338446.4	+	3	873	c.190C>A	c.(190-192)Cga>Aga	p.R64R	FAIM_ENST00000393034.2_Silent_p.R30R|FAIM_ENST00000464668.1_Silent_p.R30R|FAIM_ENST00000360570.3_Silent_p.R52R|FAIM_ENST00000393035.2_Silent_p.R30R	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	30					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ATCAGGCAAACGAGTAGTATA	0.353000													6	48					2.0095e-06	2.39807e-06	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80831201	80831201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:80831201G>T	ENST00000466387.1	+	20	2916	c.2192G>T	c.(2191-2193)gGc>gTc	p.G731V	AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G765V|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.G410V|AC008067.2_ENST00000599412.1_RNA|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G731V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G731V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.G731V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G731V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	731					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTTTCAGAGGCAAAGGCCCA	0.398000													9	45					0.00448238	0.00471523	1	1	0
USP24	23358	broad.mit.edu	37	1	55563724	55563724	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:55563724A>T	ENST00000294383.6	-	47	5486	c.5487T>A	c.(5485-5487)aaT>aaA	p.N1829K	USP24_ENST00000407756.1_Missense_Mutation_p.N1669K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1829					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCACTCCTAGATTGAGAGCCA	0.348000													5	37					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113514614	113514614	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:113514614C>A	ENST00000487903.1	+	24	2829	c.2741C>A	c.(2740-2742)aCc>aAc	p.T914N	ATP11A_ENST00000375630.2_Missense_Mutation_p.T914N|ATP11A_ENST00000375645.3_Missense_Mutation_p.T914N|ATP11A_ENST00000283558.8_Missense_Mutation_p.T914N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	914					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTGTACGACACCGCGTATCTG	0.448000													51	90					3.4597e-24	5.45471e-24	1	1	0
OTX2	5015	broad.mit.edu	37	14	57268796	57268796	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:57268796G>C	ENST00000339475.5	-	5	827	c.551C>G	c.(550-552)cCc>cGc	p.P184R	OTX2_ENST00000408990.3_Missense_Mutation_p.P176R|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.P176R|OTX2_ENST00000554788.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	176					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAGGTCATGGGATAGGACCT	0.522000													5	77					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440387	104440387	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:104440387T>A	ENST00000372582.1	+	3	1069	c.313T>A	c.(313-315)Tca>Aca	p.S105T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S105T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	105	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATGGTTTCACTCAGCTGAGGC	0.428000													29	70					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12274167	12274167	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:12274167A>G	ENST00000261349.4	-	23	4811	c.4735T>C	c.(4735-4737)Tca>Cca	p.S1579P	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1534P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1579					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCTCTGCTGACAAGTATTGG	0.532000													33	77					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790129	46790129	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:46790129C>A	ENST00000262738.3	-	14	5873	c.5874G>T	c.(5872-5874)tgG>tgT	p.W1958C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1958	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCCCACCAGCCTC	0.572000													13	48					1.5842e-08	2.005e-08	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142570226	142570226	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142570226C>A	ENST00000359396.3	-	14	2039	c.1794G>T	c.(1792-1794)gtG>gtT	p.V598V		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	598	Interaction with S100A10 (By similarity).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCGTGGTGGCCACAATCTGCG	0.612000													9	27					0.00448238	0.00471523	1	1	0
LCE1C	353133	broad.mit.edu	37	1	152777902	152777902	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:152777902G>T	ENST00000368768.1	-	2	103	c.53C>A	c.(52-54)cCc>cAc	p.P18H	LCE1C_ENST00000607093.1_Missense_Mutation_p.P18H	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	18	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agggcacttgggggtgcactt	0.612000													21	112					1.28384e-07	1.58462e-07	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720219	140720219	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140720219G>C	ENST00000394576.2	+	1	1681	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCCGAGATCCTGTA	0.627000													59	220					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284626	152284626	+	Silent	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:152284626A>T	ENST00000368799.1	-	3	2771	c.2736T>A	c.(2734-2736)cgT>cgA	p.R912R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCATGGTGACGTGACCCTG	0.572000									Ichthyosis				283	664					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55849823	55849823	+	Splice_Site	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:55849823C>A	ENST00000373965.2	-	17	2333	c.1938_splice	c.e17-1	p.A647_splice	PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373957.3_Splice_Site_p.A618_splice|PCDH15_ENST00000361849.3_Splice_Site_p.A640_splice|PCDH15_ENST00000373955.1_Splice_Site_p.A640_splice|PCDH15_ENST00000395432.2_Splice_Site_p.A603_splice|PCDH15_ENST00000409834.1_Splice_Site_p.A251_splice|PCDH15_ENST00000395433.1_Splice_Site_p.A618_splice|PCDH15_ENST00000320301.6_Splice_Site_p.A640_splice|PCDH15_ENST00000395445.1_Splice_Site_p.A647_splice|PCDH15_ENST00000395438.1_Splice_Site_p.A640_splice|PCDH15_ENST00000395446.1_Splice_Site_p.A640_splice|PCDH15_ENST00000395430.1_Splice_Site_p.A640_splice|PCDH15_ENST00000414778.1_Splice_Site_p.A645_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	640	Cadherin 6.				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			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)				CGATCAGTTGCCTTCAGAGAG	0.348000										HNSCC(58;0.16)			4	33					0.150653	0.152299	1	1	0
MUC17	140453	broad.mit.edu	37	7	100694912	100694912	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:100694912C>A	ENST00000306151.4	+	8	12957	c.12893C>A	c.(12892-12894)aCc>aAc	p.T4298N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4298						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTTTCAACACCACTGGCACC	0.527000													7	81					0.00198382	0.00210395	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904117	144904117	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:144904117G>T	ENST00000370490.1	+	1	4429	c.174G>T	c.(172-174)caG>caT	p.Q58H	SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q58H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q58H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q58H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q58H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	58						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGT	0.433000													13	30					2.27111e-07	2.77675e-07	1	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220356108	220356108	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:220356108C>T	ENST00000358951.2	-	20	2280	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	722					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTGAGCACATCCTTTTCATAT	0.328000													12	46					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14678875	14678875	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:14678875T>C	ENST00000284274.4	+	3	393	c.315T>C	c.(313-315)tgT>tgC	p.C105C		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	105										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGCAACGTGTATGAAAATGG	0.328000													5	49					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655047	142655047	+	Missense_Mutation	SNP	C	C	T	rs61729039		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142655047C>T	ENST00000355265.2	-	6	1013	c.539G>A	c.(538-540)cGc>cAc	p.R180H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	180			R -> P (in KEL24 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACCAGAGATGCGCCAGCCTCC	0.512000													5	63					0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170814964	170814964	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:170814964G>C	ENST00000296930.5	+	1	313	c.12G>C	c.(10-12)tcG>tcC	p.S4S	NPM1_ENST00000351986.6_Silent_p.S4S|NPM1_ENST00000517671.1_Silent_p.S4S|NPM1_ENST00000393820.2_Silent_p.S4S	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	4	Met-rich.|Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAAGATTCGATGGACATGG	0.612000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								3	48					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122112	90122112	+	RNA	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:90122112T>A	ENST00000483379.1	+	0	511																											CTTATTACTGTCTACAGCATA	0.517000													27	203					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64738075	64738075	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:64738075C>T	ENST00000374811.3	-	12	1759	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	LAS1L_ENST00000374807.5_Silent_p.E556E|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Silent_p.E514E	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	573						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTGGCAAGACCTCTTTCTCCT	0.512000													19	46					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99157098	99157098	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:99157098C>T	ENST00000370189.5	+	5	654	c.290C>T	c.(289-291)cCa>cTa	p.P97L	SNX7_ENST00000306121.3_Missense_Mutation_p.P161L|SNX7_ENST00000529992.1_Intron			Q9UNH6	SNX7_HUMAN	sorting nexin 7	97	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TAGCCATTGCCAGAAAAGTTT	0.348000													15	25					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589104	39589104	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:39589104C>T	ENST00000331256.5	+	3	402	c.128C>T	c.(127-129)cCa>cTa	p.P43L	PAPL_ENST00000594229.1_Missense_Mutation_p.P43L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		43						extracellular region	acid phosphatase activity|metal ion binding										CCAGGTGAGCCAGGCTCCATG	0.627000													16	67					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572105	53572105	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:53572105C>A	ENST00000601421.1	-	3	2450	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V	ZNF160_ENST00000429604.1_Missense_Mutation_p.G561V|ZNF160_ENST00000418871.1_Missense_Mutation_p.G561V|ZNF160_ENST00000599056.1_Missense_Mutation_p.G561V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	561					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGGTTTCTCTCCAGAATGAAT	0.403000													15	77					2.61681e-11	3.56989e-11	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9000179	9000179	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:9000179C>T	ENST00000299698.7	+	15	1898	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.P82L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	417						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCAGCTTCCAGGAGCAGAA	0.572000													36	161					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746756	77746756	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:77746756T>A	ENST00000409088.3	-	3	653	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q81L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q80L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q80L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q81L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	80						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCGGCAAACTGATTGGATTT	0.418000													17	62					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52946010	52946010	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:52946010C>T	ENST00000295213.4	+	9	1654	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	SPATA18_ENST00000419395.2_Missense_Mutation_p.A395V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	427					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGTTGCATTGCCTTTGCAATG	0.443000													5	255					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471299	44471299	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:44471299C>T	ENST00000251269.5	+	6	1973	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	ZNF221_ENST00000592350.1_Missense_Mutation_p.L549F|ZNF221_ENST00000587682.1_Missense_Mutation_p.L549F	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TAAATTTAATCTTGACATGCA	0.443000													48	109					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41216010	41216010	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:41216010C>T	ENST00000324464.3	-	5	622	c.321G>A	c.(319-321)ctG>ctA	p.L107L	ADCK4_ENST00000450541.1_Silent_p.L107L|ADCK4_ENST00000243583.6_Silent_p.L107L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	107						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCATCTCGGCCAGTACTCCTA	0.592000													19	81					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18651357	18651357	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:18651357A>G	ENST00000308799.4	+	2	828	c.609A>G	c.(607-609)acA>acG	p.T203T	FBXW10_ENST00000395667.1_Silent_p.T203T|FBXW10_ENST00000301938.4_Silent_p.T203T|FBXW10_ENST00000395665.4_Silent_p.T203T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	203										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTCAGCACACATCCCTTCCTT	0.473000													7	40					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27221723	27221723	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:27221723G>C	ENST00000286096.4	+	2	452	c.279G>C	c.(277-279)cgG>cgC	p.R93R	KDM8_ENST00000380948.2_Silent_p.R93R|KDM8_ENST00000568965.1_Silent_p.R93R|KDM8_ENST00000441782.2_Silent_p.R131R	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	93					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										ACTGGCGCCGGGTCTACGCCA	0.632000													11	50					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118483055	118483055	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:118483055G>T	ENST00000311085.8	+	17	2881	c.2801G>T	c.(2800-2802)aGa>aTa	p.R934I	DMXL1_ENST00000539542.1_Missense_Mutation_p.R934I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	934										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGGCTTGCAGAGCAAATCTC	0.388000													15	43					1.3612e-06	1.63344e-06	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79031474	79031474	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:79031474G>T	ENST00000446378.2	+	2	6917	c.6886G>T	c.(6886-6888)Ggc>Tgc	p.G2296C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2296						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAATCTCAGGCGATTCAGA	0.328000													33	100					6.97489e-18	1.05601e-17	1	1	0
FXYD7	53822	broad.mit.edu	37	19	35642310	35642310	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:35642310C>T	ENST00000588265.1	+	3	270	c.215C>T	c.(214-216)cCt>cTt	p.P72L	FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGCTATGTCCTGTCTTCTTG	0.562000													19	87					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079180	94079180	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:94079180C>A	ENST00000553484.1	+	28	4012	c.3858C>A	c.(3856-3858)gaC>gaA	p.D1286E	UNC79_ENST00000393151.2_Missense_Mutation_p.D1264E|UNC79_ENST00000256339.4_Missense_Mutation_p.D1087E|UNC79_ENST00000555664.1_Missense_Mutation_p.D1264E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1264						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCATCAAGGACCTGCTCCCAG	0.498000													35	78					1.04352e-10	1.3885e-10	1	1	0
MAVS	57506	broad.mit.edu	37	20	3846411	3846411	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:3846411C>A	ENST00000428216.2	+	7	1368	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I	MAVS_ENST00000416600.2_Missense_Mutation_p.L273I|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	414					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAATAGGGGCCTTGGGTCGGA	0.627000													6	28					0.248553	0.249709	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125558659	125558659	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:125558659A>G	ENST00000241305.3	-	5	864	c.710T>C	c.(709-711)gTc>gCc	p.V237A	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	237	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTTAACAGTGACCCACGTGTG	0.443000													26	130					0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46904838	46904838	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:46904838C>A	ENST00000395869.1	-	1	94	c.43G>T	c.(43-45)Gca>Tca	p.A15S	MYL3_ENST00000292327.4_Missense_Mutation_p.A15S			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	15					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TTGGGGGCTGCCTTGGCATCA	0.577000													15	72					0.000219431	0.000240595	1	1	0
OR2D3	120775	broad.mit.edu	37	11	6942467	6942467	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:6942467C>T	ENST00000317834.3	+	1	263	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTATTTTTTTCTTAGAAATCT	0.408000													18	57					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377162	104377162	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:104377162C>A	ENST00000535008.1	+	4	610	c.486C>A	c.(484-486)ggC>ggA	p.G162G	LHFPL3_ENST00000424859.1_Silent_p.G148G|LHFPL3_ENST00000543266.1_Silent_p.G162G|LHFPL3_ENST00000401970.2_Silent_p.G148G			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	148						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCCCTGATGGCTGGGACTCAG	0.423000													15	25					3.51602e-12	4.89974e-12	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9074335	9074335	+	Splice_Site	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:9074335T>A	ENST00000383836.3	-	12	1965	c.1539_splice	c.e12+1	p.K513_splice	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	513	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAAGTACCTTAATGAATGC	0.557000			T	RAF1	pilocytic astrocytoma								14	67					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37574849	37574849	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:37574849G>T	ENST00000264741.5	+	14	1674	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	ITGA9_ENST00000422441.1_Missense_Mutation_p.G473V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	473					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCCTCCCGGGCTCCATCAAC	0.562000													14	53					9.31168e-06	1.08525e-05	1	1	0
CADM2	253559	broad.mit.edu	37	3	86010619	86010619	+	Splice_Site	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:86010619G>T	ENST00000383699.3	+	8	1419	c.791_splice	c.e8-1	p.L264_splice	CADM2_ENST00000407528.2_Splice_Site_p.L255_splice|CADM2_ENST00000405615.2_Splice_Site_p.L257_splice	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	255	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AATCCAATAGGCCAGAACCTG	0.328000													23	109					2.79863e-10	3.686e-10	1	1	0
SI	6476	broad.mit.edu	37	3	164709251	164709251	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:164709251G>C	ENST00000264382.3	-	44	5060	c.4998C>G	c.(4996-4998)ggC>ggG	p.G1666G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1666	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G1666G(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCCTCTGACGCCAATATCTT	0.403000										HNSCC(35;0.089)			17	56					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741257	242741257	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:242741257A>T	ENST00000192314.6	+	3	312	c.181A>T	c.(181-183)Aag>Tag	p.K61*	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	61					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GAAGACGCACAAGACGGCCAG	0.657000													15	70					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976479	67976479	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:67976479C>A	ENST00000264005.5	-	5	564	c.535G>T	c.(535-537)Gag>Tag	p.E179*		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	179					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGGTAGTACTCCTCCTGCTGG	0.652000													9	80					1.58986e-06	1.9008e-06	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19713789	19713789	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:19713789C>T	ENST00000284885.3	-	13	1538	c.1505G>A	c.(1504-1506)tGc>tAc	p.C502Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	502	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACTCCCATTGCAAATCCCATA	0.373000													20	84					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74714858	74714858	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:74714858T>A	ENST00000445478.2	-	6	1368	c.1165A>T	c.(1165-1167)Acc>Tcc	p.T389S	JMJD6_ENST00000397625.4_Missense_Mutation_p.T389S|JMJD6_ENST00000585429.1_Silent_p.P342P	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	389					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCTGGGAGGTGGTGTCCCCG	0.627000													16	72					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60201258	60201258	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:60201258G>A	ENST00000300190.2	+	4	446	c.360G>A	c.(358-360)atG>atA	p.M120I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	120						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GCCGAATAATGAATTTTCTTA	0.378000													17	46					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788037	140788037	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140788037A>G	ENST00000520790.1	+	1	268	c.268A>G	c.(268-270)Ata>Gta	p.I90V	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGAACCGAATAGACCGTGA	0.483000													36	108					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947600	237947600	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:237947600C>A	ENST00000366574.2	+	90	12905	c.12588C>A	c.(12586-12588)acC>acA	p.T4196T	RYR2_ENST00000360064.6_Silent_p.T4202T|RYR2_ENST00000542537.1_Silent_p.T4180T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4196					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGAGGACACCATCTTTGAAA	0.512000													5	70					0.0215528	0.0221334	1	1	0
DSG3	1830	broad.mit.edu	37	18	29055884	29055884	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:29055884C>T	ENST00000257189.4	+	16	2744	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	887					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGGCCATCCCATAGAAGTCC	0.483000													43	63					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015096	56015096	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:56015096C>T	ENST00000327381.5	+	1	148	c.48C>T	c.(46-48)gaC>gaT	p.D16D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	16						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAAGCAGCGACGTGGCGTTCA	0.632000													11	45					0	0	1	0	0
C10orf25	220979	broad.mit.edu	37	10	45496149	45496149	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:45496149G>A	ENST00000298298.1	-	1	187	c.159C>T	c.(157-159)tcC>tcT	p.S53S	ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	53						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						TTTCTAGGTTGGAGAGGCTAG	0.488000													4	41					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56233825	56233825	+	Silent	SNP	C	C	T	rs142711275		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:56233825C>T	ENST00000264228.4	+	4	861	c.633C>T	c.(631-633)atC>atT	p.I211I	SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000598906.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	211					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TGATGTTCATCTGGTCATCTG	0.408000													18	92					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32800046	32800046	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:32800046G>T	ENST00000380250.3	+	39	5637	c.5141G>T	c.(5140-5142)cGa>cTa	p.R1714L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGCAGACCCGAGAGATGGGT	0.483000													15	63					0.000219431	0.000240595	1	1	0
TMEM120A	83862	broad.mit.edu	37	7	75616888	75616888	+	RNA	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:75616888T>C	ENST00000493111.2	-	0	816				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											AGCAGGAAGGTGAGGCCCCGC	0.632000													3	7					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25228994	25228994	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:25228994G>C	ENST00000399916.1	-	6	1347	c.909C>G	c.(907-909)atC>atG	p.I303M	RUNX3_ENST00000540420.1_Missense_Mutation_p.I196M|RUNX3_ENST00000338888.3_Missense_Mutation_p.I303M|RUNX3_ENST00000308873.6_Missense_Mutation_p.I289M	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	289	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGAGGCTGCTGATGCTCGTGC	0.697000													4	122					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106717527	106717527	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:106717527C>A	ENST00000283148.7	-	12	1068	c.971G>T	c.(970-972)aGc>aTc	p.S324I	UXS1_ENST00000540130.1_Missense_Mutation_p.S262I|UXS1_ENST00000428048.2_Missense_Mutation_p.S163I|UXS1_ENST00000409032.1_Missense_Mutation_p.S151I|UXS1_ENST00000409501.3_Missense_Mutation_p.S319I	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	319					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTTGACCGGGCTGCTGACGTT	0.542000													22	81					1.66031e-10	2.1912e-10	1	1	0
RGS8	85397	broad.mit.edu	37	1	182641955	182641955	+	Splice_Site	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:182641955C>G	ENST00000258302.4	-	1	94	c.6_splice	c.e1+1	p.W2_splice	RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_5'UTR	NM_033345.2	NP_203131.1	P57771	RGS8_HUMAN	regulator of G-protein signaling 8	0					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CCTCCTTACCCACATGGGTCT	0.473000													16	85					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667547	122667547	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:122667547G>A	ENST00000195173.4	-	3	437	c.134C>T	c.(133-135)cCc>cTc	p.P45L	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.P45L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.P99L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	45					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCAGACAGGGGAGAAGACC	0.602000													12	31					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97677916	97677916	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:97677916C>A	ENST00000333396.6	-	4	1242	c.660G>T	c.(658-660)ccG>ccT	p.P220P	MINA_ENST00000394198.2_Silent_p.P220P|MINA_ENST00000330299.2_Silent_p.P220P|MINA_ENST00000360258.4_Silent_p.P220P	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	220	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ACTCATGCACCGGCCTGCCGA	0.552000													14	86					2.61681e-11	3.56989e-11	1	1	0
PHF8	23133	broad.mit.edu	37	X	53970627	53970627	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:53970627C>A	ENST00000338154.6	-	20	3093	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	PHF8_ENST00000338946.6_Silent_p.G762G|PHF8_ENST00000322659.8_Silent_p.G846G|PHF8_ENST00000357988.5_Silent_p.G899G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	899					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTACCCGGGTCCCCTCACGCA	0.582000													16	18					6.49762e-13	9.17311e-13	1	1	0
APLP1	333	broad.mit.edu	37	19	36362806	36362806	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:36362806G>T	ENST00000221891.4	+	6	910	c.718G>T	c.(718-720)Gct>Tct	p.A240S	APLP1_ENST00000537454.2_Missense_Mutation_p.A201S|APLP1_ENST00000586861.1_Missense_Mutation_p.A234S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	240					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTAGAGGGGGCTGAGGACGA	0.642000													33	127					1.22384e-17	1.84001e-17	1	1	0
GBP6	163351	broad.mit.edu	37	1	89847306	89847306	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:89847306C>T	ENST00000370456.4	+	7	1018	c.925C>T	c.(925-927)Cct>Tct	p.P309S	GBP6_ENST00000535065.1_Missense_Mutation_p.P179S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	309							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGGAGCAGTGCCTTGTCTGGA	0.517000													7	121					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133049980	133049980	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:133049980C>T	ENST00000367927.5	-	3	509	c.437G>A	c.(436-438)tGc>tAc	p.C146Y	VNN3_ENST00000427187.2_Missense_Mutation_p.C146Y|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000207771.3_Missense_Mutation_p.C146Y|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000414302.2_Intron|VNN3_ENST00000417437.2_Intron					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACTGGCATTGCATGGCTTCTT	0.483000													14	72					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:88229394C>T	ENST00000369536.5	-	14	1189	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTCTTCATTCCCTGTACTACT	0.403000													9	49					0	0	1	0	0
ARL8A	127829	broad.mit.edu	37	1	202104902	202104902	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:202104902T>A	ENST00000272217.2	-	4	473	c.305A>T	c.(304-306)gAg>gTg	p.E102V	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	102					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CTCAATCTTCTCCTGGTCAGC	0.587000											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	76					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766624	57766624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:57766624C>T	ENST00000371030.2	+	1	550	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	184						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTTAAGACCCAGAGCAATCT	0.642000													8	154					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320701	100320701	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:100320701T>A	ENST00000252723.2	+	5	708	c.527T>A	c.(526-528)cTc>cAc	p.L176H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	176					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCCAATTTCCTCCGGGGAAAG	0.572000													95	174					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234395	18234395	+	Silent	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:18234395T>A	ENST00000229002.2	-	6	554	c.348A>T	c.(346-348)tcA>tcT	p.S116S	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.S115S	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	116	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAAACACTGCTGATTCCACAG	0.368000													18	67					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													4	11					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37854243	37854243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:37854243C>T	ENST00000591471.1	+	9	2368	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	HKR1_ENST00000541583.2_Nonsense_Mutation_p.Q455*|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Nonsense_Mutation_p.Q243*|HKR1_ENST00000392153.3_Nonsense_Mutation_p.Q497*|HKR1_ENST00000324411.4_Nonsense_Mutation_p.Q516*|HKR1_ENST00000589392.1_Nonsense_Mutation_p.Q498*			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCACGCACCAGAGGACACA	0.512000													13	100					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121644667	121644667	+	Splice_Site	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:121644667G>C	ENST00000393386.2	+	11	1651		c.e11-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAATTTTGTAGAACTTGATCT	0.239000													3	6					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636950	207636950	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:207636950A>T	ENST00000236980.6	+	6	1508	c.1160A>T	c.(1159-1161)cAg>cTg	p.Q387L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.Q387L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.Q387L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	387					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AACATATTGCAGTCCTGCAAA	0.353000													8	45					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17378929	17378929	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:17378929A>G	ENST00000242057.4	+	10	2123	c.1480A>G	c.(1480-1482)Aga>Gga	p.R494G	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	494					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GAATGAATGCAGAAATTGGCA	0.388000													41	118					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945156	151945156	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:151945156G>A	ENST00000355193.2	-	14	2581	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S788F					lysine (K)-specific methyltransferase 2C																		CAAGTCTGAAGAAGGTGTTGG	0.438000													14	460					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89434416	89434416	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:89434416A>G	ENST00000260508.4	-	4	577	c.240T>C	c.(238-240)taT>taC	p.Y80Y	CCBL2_ENST00000370485.2_Silent_p.Y80Y|CCBL2_ENST00000370491.3_Silent_p.Y46Y|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	80					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCTTTTACATATGTAGGAG	0.378000													18	79					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205887	70205887	+	Splice_Site	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:70205887C>A	ENST00000269503.4	-	4	1251		c.e4+1		CBLN2_ENST00000581073.1_Splice_Site|CBLN2_ENST00000584764.1_Splice_Site|CBLN2_ENST00000583651.1_Splice_Site|CBLN2_ENST00000585159.1_Splice_Site	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor							integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AATCTACCCACCTGGATGGTT	0.458000													39	68					1.22674e-20	1.91089e-20	1	1	0
UBXN7	26043	broad.mit.edu	37	3	196134253	196134253	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:196134253T>C	ENST00000296328.4	-	2	159	c.85A>G	c.(85-87)Agt>Ggt	p.S29G	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	29							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTTCCTACACTTTCACTTGCA	0.378000													9	91					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412023	33412023	+	Silent	SNP	C	C	A	rs113801394		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:33412023C>A	ENST00000404816.2	+	6	1655	c.1302C>A	c.(1300-1302)gtC>gtA	p.V434V	LTBP1_ENST00000404525.1_Silent_p.V108V|LTBP1_ENST00000418533.2_Silent_p.V108V|LTBP1_ENST00000402934.1_Silent_p.V108V|LTBP1_ENST00000407925.1_Silent_p.V108V|LTBP1_ENST00000390003.4_Silent_p.V108V|LTBP1_ENST00000354476.3_Silent_p.V434V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	434					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATCCCAGTCCATGGTGCCA	0.498000													14	52					7.93312e-07	9.55513e-07	1	1	0
KCND2	3751	broad.mit.edu	37	7	119914885	119914885	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:119914885C>G	ENST00000331113.4	+	1	1164	c.199C>G	c.(199-201)Ctg>Gtg	p.L67V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	67					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACACTCTACTGGGCAGTTC	0.522000													39	334					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781921	44781921	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:44781921G>C	ENST00000266534.3	+	8	1138	c.1011G>C	c.(1009-1011)ggG>ggC	p.G337G	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.G233G	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	337						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCGGCCCGGGGCAGAAGATAT	0.383000													9	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33926860	33926860	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:33926860G>T	ENST00000389232.4	+	25	3171	c.3101G>T	c.(3100-3102)aGg>aTg	p.R1034M	RYR3_ENST00000415757.3_Missense_Mutation_p.R1034M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1034	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGTCAAACAGGGACAGCCTG	0.458000													23	103					1.50039e-11	2.06423e-11	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647518	33647518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:33647518C>A	ENST00000558425.1	-	2	81	c.82G>T	c.(82-84)Gga>Tga	p.G28*																								ACCAAGCCTCCCCCAGACTCC	0.562000													91	166					1.95947e-40	3.18229e-40	1	1	0
CHRNB1	1140	broad.mit.edu	37	17	7350841	7350841	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:7350841A>T	ENST00000306071.2	+	6	549	c.482A>T	c.(481-483)gAc>gTc	p.D161V	CHRNB1_ENST00000576360.1_Missense_Mutation_p.D89V|CHRNB1_ENST00000536404.2_Missense_Mutation_p.D89V	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	161					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TTCCCCTTCGACTGGCAGAAT	0.587000													22	64					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796798	62796798	+	RNA	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:62796798C>T	ENST00000582986.1	-	0	1122					NR_024386.1																						GGAGGAGGCGCGCAGGGCCAG	0.647000													8	40					0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144296932	144296932	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:144296932C>A	ENST00000330824.2	+	3	301	c.226C>A	c.(226-228)Cgc>Agc	p.R76S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	76	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGGACGAGCGCTGCAACCT	0.682000													4	16					1	1	1	1	0
KIAA0430	9665	broad.mit.edu	37	16	15704859	15704859	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:15704859C>T	ENST00000396368.3	-	19	3930	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E844K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E1239K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E1077K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E1242K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E1239K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1241						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATCACCATTTCATTATCTTGT	0.393000													5	108					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894536	47894536	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:47894536T>C	ENST00000289672.2	-	30	4853	c.4803A>G	c.(4801-4803)atA>atG	p.I1601M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1601					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTCAATTTCTATCTGTAGAG	0.388000													20	128					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134118	94134118	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:94134118T>A	ENST00000243673.2	-	1	467	c.296A>T	c.(295-297)aAc>aTc	p.N99I	GPR83_ENST00000539203.2_Missense_Mutation_p.N99I	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	99						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATTCGCTGGTTCTTGAAGAT	0.527000													16	33					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903707	72903707	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:72903707C>A	ENST00000339594.4	-	6	1046	c.708G>T	c.(706-708)gtG>gtT	p.V236V	BAZ1B_ENST00000404251.1_Silent_p.V236V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	236	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGTCTGCTGGCACGTTACTGA	0.403000													16	87					3.45872e-05	3.94586e-05	1	1	0
RPL10L	140801	broad.mit.edu	37	14	47120662	47120662	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:47120662G>C	ENST00000298283.3	-	1	366	c.278C>G	c.(277-279)cCc>cGc	p.P93R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	93					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GACATGGAAGGGATGGAGCCG	0.537000													15	72					0	0	1	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18082862	18082862	+	Splice_Site	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:18082862C>A	ENST00000253413.5	-	6	549		c.e6-1		ATP6V1E1_ENST00000399798.2_Splice_Site|ATP6V1E1_ENST00000399796.2_Splice_Site	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1						cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GGTACAAACCCTGGAAGAAAT	0.413000													10	55					3.86212e-05	4.37527e-05	1	1	0
MESDC2	23184	broad.mit.edu	37	15	81274502	81274502	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:81274502C>T	ENST00000261758.4	-	2	321	c.235G>A	c.(235-237)Gga>Aga	p.G79R		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	79	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GGAAGATCTCCTTCTTCAATG	0.413000													14	74					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903369	6903369	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:6903369C>A	ENST00000486284.1	+	1	568	c.294C>A	c.(292-294)aaC>aaA	p.N98K	GRM7_ENST00000389336.4_Missense_Mutation_p.N98K|GRM7_ENST00000403881.1_Missense_Mutation_p.N98K|GRM7_ENST00000402647.2_Missense_Mutation_p.N98K|GRM7_ENST00000357716.4_Missense_Mutation_p.N98K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	98					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TACTGCCCAACGTGACGCTGG	0.592000													13	25					2.27111e-07	2.77675e-07	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558231	140558231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140558231G>T	ENST00000239444.2	+	1	861	c.616G>T	c.(616-618)Gaa>Taa	p.E206*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		206	Cadherin 2.				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)			CCGAGAGGAAGAAGCTGAGCT	0.532000													8	324					0.000274275	0.000299209	1	1	0
GOLGA6C	653641	broad.mit.edu	37	15	75562472	75562472	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:75562472G>A	ENST00000300576.5	+	18	2014	c.2014G>A	c.(2014-2016)Ggt>Agt	p.G672S		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	672										ovary(1)	1						GGCCAGGGAGGGTTCTCCCCA	0.612000													6	73					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132812823	132812823	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:132812823G>T	ENST00000331898.7	-	1	743	c.165C>A	c.(163-165)ctC>ctA	p.L55L	OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Silent_p.L48L|OPCML_ENST00000541867.1_Silent_p.L55L|OPCML_ENST00000374778.4_Silent_p.L14L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	55	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTCCCTACCTGAGGGTGGCGC	0.677000													11	116					0.010729	0.0111417	1	1	0
A1CF	29974	broad.mit.edu	37	10	52601737	52601737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:52601737C>A	ENST00000395489.2	-	7	625	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	A1CF_ENST00000395495.1_Nonsense_Mutation_p.E84*|A1CF_ENST00000374001.1_Nonsense_Mutation_p.E84*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.E84*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.E92*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.E84*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.E84*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	84	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATTCTCATTTCATAAATTTTA	0.308000													8	29					0.00448238	0.00471523	1	1	0
CPQ	10404	broad.mit.edu	37	8	97847387	97847387	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:97847387T>G	ENST00000220763.5	+	3	830	c.620T>G	c.(619-621)gTg>gGg	p.V207G		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	207					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATTCGATCCGTGGCCTCCTTC	0.468000													8	40					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29650613	29650613	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:29650613G>T	ENST00000318184.5	-	1	6	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	3					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGCCAGCAGGCCCATAGCC	0.652000													6	52					0.00198382	0.00210395	1	1	0
SALL1	6299	broad.mit.edu	37	16	51174348	51174348	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:51174348G>T	ENST00000440970.1	-	2	1925	c.1494C>A	c.(1492-1494)tcC>tcA	p.S498S	SALL1_ENST00000251020.4_Silent_p.S595S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	595					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGGCCCCCGGAGTCACTTT	0.612000													13	51					5.50884e-06	6.44355e-06	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30529959	30529959	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:30529959C>G	ENST00000356798.6	+	29	3327	c.3147C>G	c.(3145-3147)ttC>ttG	p.F1049L	ITGAL_ENST00000433423.2_Missense_Mutation_p.F283L|ITGAL_ENST00000358164.5_Missense_Mutation_p.F965L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1049					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTTCCATGTTCAGCCTCTGCA	0.597000													28	188					0	0	1	0	0
LGALSL	29094	broad.mit.edu	37	2	64682545	64682545	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:64682545G>T	ENST00000238875.5	+	2	558	c.104G>T	c.(103-105)cGa>cTa	p.R35L	LGALSL_ENST00000409537.2_Missense_Mutation_p.R35L	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	35						intracellular	sugar binding										TACTTCCCACGACTGGTAAAT	0.383000													25	85					5.45024e-15	7.90102e-15	1	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200818379	200818379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:200818379G>T	ENST00000358823.2	+	11	2752	c.2482G>T	c.(2482-2484)Gga>Tga	p.G828*	CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.G839*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.G812*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	839						cytoplasm|microtubule	protein binding										AAAAACTGATGGACAAAGGAG	0.443000													122	113					8.52205e-74	1.40516e-73	1	1	0
FAM73A	374986	broad.mit.edu	37	1	78269044	78269044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:78269044G>T	ENST00000370791.3	+	4	495	c.463G>T	c.(463-465)Gga>Tga	p.G155*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.G117*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	155						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CTATGCTAATGGAGGACTTTT	0.308000													12	45					3.07112e-06	3.64484e-06	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54848801	54848801	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:54848801C>G	ENST00000291759.4	-	5	878	c.822G>C	c.(820-822)ggG>ggC	p.G274G		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	274	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGAGAGCCCAGCCTGGG	0.667000													10	46					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631710	101631710	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:101631710C>G	ENST00000310954.6	-	1	543	c.257G>C	c.(256-258)gGg>gCg	p.G86A		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	86					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCCGTAAGACCCCTCCTCAAA	0.582000													18	53					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850198	3850198	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:3850198G>A	ENST00000380274.1	+	1	579	c.153G>A	c.(151-153)gcG>gcA	p.A51A	FAM50B_ENST00000380272.3_Silent_p.A51A			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGTTCTCGGCGCATTACGACG	0.647000													9	43					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115365594	115365594	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:115365594G>T	ENST00000369358.4	-	34	4110	c.3866C>A	c.(3865-3867)gCt>gAt	p.A1289D	NRAP_ENST00000359988.3_Missense_Mutation_p.A1281D|NRAP_ENST00000369360.3_Missense_Mutation_p.A1254D|NRAP_ENST00000360478.3_Missense_Mutation_p.A1246D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1281						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTAGCCTTGAGCACGAAGATT	0.463000													86	332					1.13884e-41	1.8542e-41	1	1	0
PRDM1	639	broad.mit.edu	37	6	106547289	106547289	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:106547289T>A	ENST00000369096.4	+	4	760	c.526T>A	c.(526-528)Tgt>Agt	p.C176S	PRDM1_ENST00000369089.3_Missense_Mutation_p.C42S|PRDM1_ENST00000369091.2_Missense_Mutation_p.C140S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	176	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTGGCTGCGTGTCAGAACGG	0.498000			"""D, N, Mis, F, S"""		DLBCL								19	57					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55872959	55872959	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:55872959C>T	ENST00000388975.3	-	9	1227	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	371					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCTCTTTTTCAGCTTCTTTA	0.333000													5	55					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52563211	52563211	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:52563211G>A	ENST00000307076.4	-	2	661	c.261C>T	c.(259-261)ccC>ccT	p.P87P	NT5DC2_ENST00000422318.2_Silent_p.P124P|NT5DC2_ENST00000459839.1_Silent_p.P124P|NT5DC2_ENST00000307092.4_Silent_p.P53P|NT5DC2_ENST00000490681.1_5'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	87							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGAAGATCTCGGGGTGCAGTG	0.592000													8	50					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551805	165551805	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:165551805A>G	ENST00000375458.2	-	11	2318	c.2097T>C	c.(2095-2097)tcT>tcC	p.S699S	COBLL1_ENST00000342193.4_Silent_p.S737S|COBLL1_ENST00000409184.3_Silent_p.S737S|COBLL1_ENST00000194871.6_Silent_p.S804S|COBLL1_ENST00000392717.2_Silent_p.S775S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	775										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTTTAGGTAAGAAGCAGTGG	0.373000													46	127					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663285	13663285	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:13663285G>T	ENST00000404922.3	+	9	2285	c.2166G>T	c.(2164-2166)gaG>gaT	p.E722D	FBLN2_ENST00000295760.7_Intron|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Missense_Mutation_p.E722D	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	722	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACCAAGACGAGTGCCTGATGG	0.562000													7	42					0.00448238	0.00471523	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905310	144905310	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:144905310A>G	ENST00000370490.1	+	1	5622	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y456C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y456C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y456C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y456C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	456						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATTTAGAGTATAATGTCATT	0.383000													37	127					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343515	248343515	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:248343515C>T	ENST00000359682.2	+	1	228	c.228C>T	c.(226-228)acC>acT	p.T76T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCTGCACCACCGTACCCA	0.507000													114	328					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108185332	108185332	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:108185332G>T	ENST00000370056.4	-	20	2097	c.1823C>A	c.(1822-1824)cCc>cAc	p.P608H	VAV3_ENST00000415432.2_Missense_Mutation_p.P48H|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.P12H|VAV3_ENST00000527011.1_Missense_Mutation_p.P608H	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	608	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P608R(1)|p.P48R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGAGCTGGGGGTGGTGTTCC	0.453000													33	62					2.48696e-23	3.89263e-23	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43322685	43322685	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:43322685G>A	ENST00000361428.2	-	4	2464	c.2387C>T	c.(2386-2388)gCa>gTa	p.A796V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A796V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	796					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGCTGCATATGCCATGTAGTG	0.527000													14	64					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108704378	108704378	+	Silent	SNP	T	T	C	rs141164550		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:108704378T>C	ENST00000361189.2	-	5	1592	c.1353A>G	c.(1351-1353)caA>caG	p.Q451Q	PJA2_ENST00000361557.3_Silent_p.Q451Q	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	451					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CACTTGAGGATTGATCTTTTT	0.413000													8	90					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65343328	65343328	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:65343328C>A	ENST00000356126.3	-	7	806	c.699G>T	c.(697-699)ctG>ctT	p.L233L	PSMD12_ENST00000357146.4_Silent_p.L213L	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CATGTTGATCCAGCTGAATCA	0.323000													4	89					0.150653	0.152299	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117059629	117059629	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:117059629T>A	ENST00000355044.3	+	16	2627	c.2501T>A	c.(2500-2502)cTa>cAa	p.L834Q		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	834	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACACAACACTACAGTGGCTT	0.448000													23	78					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31598368	31598368	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:31598368T>A	ENST00000399332.1	-	25	4697	c.4209A>T	c.(4207-4209)aaA>aaT	p.K1403N	HECTD1_ENST00000553700.1_Missense_Mutation_p.K1403N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1403	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCCGTTCCGTTTTGGTCGAAC	0.473000													46	183					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874886	80874886	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:80874886G>T	ENST00000466387.1	+	22	3331	c.2607G>T	c.(2605-2607)gtG>gtT	p.V869V	CTNNA2_ENST00000361291.4_Silent_p.V903V|CTNNA2_ENST00000343114.3_Silent_p.V548V|CTNNA2_ENST00000402739.4_Silent_p.V917V|CTNNA2_ENST00000541047.1_Silent_p.V869V|CTNNA2_ENST00000540488.1_Silent_p.V824V|CTNNA2_ENST00000496558.1_Silent_p.V869V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	917					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCCCTTGTGAAGAGAGAAA	0.468000													49	209					1.78197e-24	2.81637e-24	1	1	0
HCN3	57657	broad.mit.edu	37	1	155252300	155252300	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:155252300G>T	ENST00000368358.3	+	2	385	c.377G>T	c.(376-378)tGg>tTg	p.W126L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	126						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCGCCTTGGATCGTCTTC	0.542000													11	139					3.07112e-06	3.64484e-06	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20110322	20110322	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:20110322C>A	ENST00000381569.1	-	3	1477	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	LZTS1_ENST00000265801.6_Missense_Mutation_p.G374C|LZTS1_ENST00000522290.1_Missense_Mutation_p.G374C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	374					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G374C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGCGCGGGGCCGAAGCTGGTC	0.647000													5	51					3.59834e-05	4.09074e-05	1	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895442	24895442	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:24895442G>C	ENST00000347898.3	+	8	1276	c.654G>C	c.(652-654)ttG>ttC	p.L218F	SLC5A11_ENST00000569071.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000568579.1_Missense_Mutation_p.L148F|SLC5A11_ENST00000424767.2_Missense_Mutation_p.L183F|SLC5A11_ENST00000539472.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000449109.2_Missense_Mutation_p.L154F|SLC5A11_ENST00000567758.1_Missense_Mutation_p.L183F|SLC5A11_ENST00000565769.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000545376.1_Missense_Mutation_p.L148F	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	218					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.L218F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGCTCACCTTGATGGGCTACA	0.592000													69	120					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205501	205501	+	Silent	SNP	T	T	G	rs112338445		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:205501T>G	ENST00000296824.3	-	3	826	c.694A>C	c.(694-696)Aga>Cga	p.R232R		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	232										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CACATGAGTCTGCCATTCTGG	0.468000													19	128					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139287020	139287020	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:139287020C>T	ENST00000298532.2	-	8	1132	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	255	Myb-like 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGCCTGTTTCCCAGCAAGGC	0.617000													5	179					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45478119	45478119	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:45478119C>A	ENST00000361462.2	+	6	3091	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.H970N|FAM179B_ENST00000382233.2_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	970							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCTTAGATGCATAGCTCTCT	0.333000													19	43					5.3912e-06	6.36339e-06	1	1	0
FAM50B	26240	broad.mit.edu	37	6	3850461	3850461	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:3850461C>G	ENST00000380274.1	+	1	842	c.416C>G	c.(415-417)gCc>gGc	p.A139G	FAM50B_ENST00000380272.3_Missense_Mutation_p.A139G			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	139						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCCAGGCGCGCCGGAAACCTG	0.677000													10	42					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49362161	49362161	+	Silent	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:49362161T>G	ENST00000351842.4	-	6	677	c.669A>C	c.(667-669)acA>acC	p.T223T	USP4_ENST00000416417.1_Silent_p.T223T|USP4_ENST00000415188.1_Silent_p.T223T|USP4_ENST00000265560.4_Silent_p.T223T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	223					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCTGGGCCATGTGCCATCTT	0.453000													16	65					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619185	43619185	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:43619185G>A	ENST00000360835.3	-	11	1371	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	415					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCTGGGCCCGGGGGGAGGTCT	0.642000													30	148					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734093	15734093	+	RNA	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:15734093C>G	ENST00000441682.2	+	0	887							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGCGGCGCCGCACCCTCAC	0.587000													17	79					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54475348	54475348	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:54475348T>A	ENST00000375135.3	-	16	3060	c.2327A>T	c.(2326-2328)aAc>aTc	p.N776I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	776					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTTGGAGCGGTTGTTGTCATA	0.632000													14	10					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5777270	5777270	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:5777270C>T	ENST00000328090.5	+	12	1833	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	403																	ACATAAGGTGCGGAAGTGCTG	0.373000													9	213					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42804847	42804847	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:42804847A>T	ENST00000514985.1	-	4	701	c.445T>A	c.(445-447)Ttg>Atg	p.L149M	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.L149M|SEPP1_ENST00000506577.1_Missense_Mutation_p.L149M|SEPP1_ENST00000507920.1_Intron	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	149					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GAAAAAGGCAAACCAAGATGA	0.368000													9	75					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156376712	156376712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:156376712C>T	ENST00000274532.2	-	4	766	c.710G>A	c.(709-711)tGg>tAg	p.W237*	TIMD4_ENST00000407087.3_Nonsense_Mutation_p.W237*	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	237	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACACTACTCCAGGAATCACT	0.473000													14	38					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520763	171520763	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:171520763C>T	ENST00000176763.5	-	9	1550	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	403							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTGCCAGGCCGTTCTCATTT	0.617000													8	48					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74394622	74394622	+	RNA	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:74394622C>A	ENST00000429810.2	-	0	343																											CCACAGACGACCACCTGTGCC	0.582000													11	112					0.000978159	0.0010529	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247582261	247582261	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:247582261C>A	ENST00000366497.2	+	2	945	c.165C>A	c.(163-165)gcC>gcA	p.A55A	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.A55A|NLRP3_ENST00000391828.3_Silent_p.A55A|NLRP3_ENST00000366496.2_Silent_p.A55A|NLRP3_ENST00000348069.2_Silent_p.A55A|NLRP3_ENST00000391827.2_Silent_p.A55A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	55	DAPIN.				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)			TGGATCTAGCCACGCTAATGA	0.522000													13	52					0.105934	0.108273	1	1	0
SLC15A1	6564	broad.mit.edu	37	13	99378637	99378637	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:99378637A>T	ENST00000376503.5	-	3	143	c.88T>A	c.(88-90)Tac>Aac	p.Y30N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	30					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTCCATAGTAGGAAAATCTT	0.448000													18	28					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540842	72540842	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:72540842C>G	ENST00000330793.1	-	2	666	c.306G>C	c.(304-306)gaG>gaC	p.E102D		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	102	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTGCGTCCTCCTCTGTGAGAT	0.572000													14	98					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268898	30268898	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:30268898C>A	ENST00000378981.3	+	4	609	c.288C>A	c.(286-288)gcC>gcA	p.A96A	MAGEB1_ENST00000397548.2_Silent_p.A96A|MAGEB1_ENST00000397550.1_Silent_p.A96A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	96										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCCCAGGCCACAACATCCA	0.502000													9	10					0.361761	0.362881	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155099354	155099354	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:155099354G>C	ENST00000392825.3	+	6	1189	c.622G>C	c.(622-624)Gat>Cat	p.D208H	GALNT13_ENST00000409237.1_Missense_Mutation_p.D208H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	208	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AACTTTTCTTGATGCACACTG	0.453000													13	38					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36338979	36338979	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:36338979G>A	ENST00000378910.5	-	11	1403	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	NPHS1_ENST00000353632.6_Silent_p.I468I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	468	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTTGCCCCCGATAGCCAAAC	0.657000													28	118					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89185027	89185027	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:89185027G>T	ENST00000535633.1	-	3	428	c.118C>A	c.(118-120)Ctt>Att	p.L40I	NOX4_ENST00000525196.1_Missense_Mutation_p.L64I|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.L40I|NOX4_ENST00000528341.1_Missense_Mutation_p.L39I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.L40I|NOX4_ENST00000424319.1_Missense_Mutation_p.L40I|NOX4_ENST00000413594.2_Missense_Mutation_p.L85I|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.L64I|NOX4_ENST00000527956.1_Missense_Mutation_p.L40I|NOX4_ENST00000263317.4_Missense_Mutation_p.L64I|NOX4_ENST00000343727.5_Missense_Mutation_p.L40I	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	64					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTGAGGTTAAGAACAGATGCT	0.458000													13	98					6.31663e-08	7.87149e-08	1	1	0
KLK1	3816	broad.mit.edu	37	19	51323458	51323458	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:51323458C>G	ENST00000448701.2	-	4	1466	c.142G>C	c.(142-144)Ggg>Cgg	p.G48R	KLK1_ENST00000301420.2_Missense_Mutation_p.G150R			P06870	KLK1_HUMAN	kallikrein 1	150	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGTGCTCCCCACTTCGGGT	0.607000													12	80					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233536	57233536	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:57233536G>A	ENST00000343433.6	-	5	1109	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	343										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACAGGTTAATGGAGTTGCCAG	0.363000													11	63					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26718760	26718760	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:26718760G>T	ENST00000396005.3	-	8	1300	c.991C>A	c.(991-993)Cca>Aca	p.P331T	SLC5A12_ENST00000280467.6_Missense_Mutation_p.P331T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	331					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGCAGTCCTGGCATTGTGGCA	0.388000													18	106					2.32416e-17	3.46219e-17	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28554222	28554222	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:28554222G>A	ENST00000452236.2	-	1	890	c.273C>T	c.(271-273)atC>atT	p.I91I	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	91	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACAATTCCAGGATCTGCTCCT	0.562000													20	106					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225959	9225959	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9225959G>A	ENST00000293614.1	-	1	480	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	OR7G1_ENST00000541538.1_Silent_p.L161L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AATACCATCAGACTCTGAACC	0.483000													20	77					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993153	144993153	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:144993153C>A	ENST00000322810.4	-	32	11416	c.11247G>T	c.(11245-11247)cgG>cgT	p.R3749R	PLEC_ENST00000398774.2_Silent_p.R3580R|PLEC_ENST00000354589.3_Silent_p.R3612R|PLEC_ENST00000436759.2_Silent_p.R3639R|PLEC_ENST00000354958.2_Silent_p.R3590R|PLEC_ENST00000357649.2_Silent_p.R3616R|PLEC_ENST00000356346.3_Silent_p.R3598R|PLEC_ENST00000527096.1_Silent_p.R3635R|PLEC_ENST00000345136.3_Silent_p.R3612R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3749	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTGGTCACCCGGCCGGCCT	0.627000													14	93					4.3838e-07	5.31967e-07	1	1	0
LVRN	206338	broad.mit.edu	37	5	115320330	115320330	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:115320330C>T	ENST00000357872.4	+	3	1026	c.902C>T	c.(901-903)cCc>cTc	p.P301L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		301					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TCCACTACGCCCCACATGCCA	0.408000													6	31					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28228524	28228524	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:28228524G>A	ENST00000354638.3	-	14	1625	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	OCA2_ENST00000353809.5_Silent_p.V466V|OCA2_ENST00000382996.2_Silent_p.V490V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	490					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAACAATAATGACATTTGGAG	0.498000									Oculocutaneous Albinism				20	87					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549569	58549569	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:58549569A>T	ENST00000282326.1	+	3	612	c.365A>T	c.(364-366)cAg>cTg	p.Q122L	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.Q122L|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.Q122L	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	122					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATGTGCCAGCAGGAAGGTGAG	0.706000													4	18					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149090	142149090	+	RNA	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142149090C>G	ENST00000390372.3	-	0	187																											AACTGGGGCCCCTGACCCAGG	0.493000													54	84					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229602434	229602434	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:229602434T>C	ENST00000261396.3	-	16	2237	c.2146A>G	c.(2146-2148)Atg>Gtg	p.M716V	NUP133_ENST00000366679.1_Missense_Mutation_p.M716V|NUP133_ENST00000537506.1_Missense_Mutation_p.M700V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	716					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGGAATCCATAGGTGCATCC	0.423000													4	85					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71781056	71781056	+	Silent	SNP	C	C	A	rs148652047	byFrequency	TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:71781056C>A	ENST00000258104.3	+	21	2327	c.2050C>A	c.(2050-2052)Cgg>Agg	p.R684R	DYSF_ENST00000409762.1_Silent_p.R701R|DYSF_ENST00000413539.2_Silent_p.R715R|DYSF_ENST00000409582.3_Silent_p.R701R|DYSF_ENST00000409744.1_Silent_p.R671R|DYSF_ENST00000410041.1_Silent_p.R702R|DYSF_ENST00000394120.2_Silent_p.R685R|DYSF_ENST00000409366.1_Silent_p.R685R|DYSF_ENST00000429174.2_Silent_p.R684R|DYSF_ENST00000410020.3_Silent_p.R702R|DYSF_ENST00000409651.1_Silent_p.R716R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	684						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATTGCTGACCGGCTGGTGAG	0.567000													8	35					5.18039e-06	6.12572e-06	1	1	0
ASIC2	40	broad.mit.edu	37	17	31618466	31618466	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:31618466T>C	ENST00000225823.2	-	1	1540	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	172					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCGCGGTACTTGCAGGAGAG	0.687000													11	51					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212365	152212365	+	Silent	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:152212365T>G	ENST00000455694.2	+	5	749	c.747T>G	c.(745-747)ccT>ccG	p.P249P	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Silent_p.P106P	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	249	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AATCTCTTCCTGGAGTCTACA	0.433000													24	88					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070882	19070882	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:19070882G>T	ENST00000569532.1	+	15	2302	c.2172G>T	c.(2170-2172)gtG>gtT	p.V724V	TMC7_ENST00000421369.3_Intron|TMC7_ENST00000304381.5_Intron			Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	113						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAAGGAAAGTGCTGTTTTCCT	0.552000													8	22					0.0381472	0.0390512	1	1	0
FNIP2	57600	broad.mit.edu	37	4	159756623	159756623	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:159756623G>C	ENST00000264433.6	+	7	797	c.722G>C	c.(721-723)cGa>cCa	p.R241P	FNIP2_ENST00000379346.3_Missense_Mutation_p.R264P	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	241					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGCATTGCTCGATCAGGTACT	0.428000													29	167					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071166	197071166	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:197071166C>A	ENST00000367409.4	-	18	7471	c.7215G>T	c.(7213-7215)aaG>aaT	p.K2405N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2405	IQ 24.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATGCATACTCTTCAAATGTC	0.413000													128	127					5.00478e-44	8.18964e-44	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157738255	157738255	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:157738255C>G	ENST00000361516.3	-	5	880	c.832G>C	c.(832-834)Gac>Cac	p.D278H	FCRL2_ENST00000392274.3_Missense_Mutation_p.D278H|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	278	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGCCGTTGTCAGCTCTACAG	0.493000													5	253					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108235	26108235	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:26108235C>G	ENST00000338379.4	-	1	129	c.87G>C	c.(85-87)ccG>ccC	p.P29P		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	29					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TCAAGCCAGCCGGCTTCCTCC	0.522000													19	64					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208153	58208153	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:58208153G>C	ENST00000377918.3	+	1	1499	c.1473G>C	c.(1471-1473)ctG>ctC	p.L491L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	491	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGAGTACCTGGGCTCTGTGC	0.582000													3	24					0	0	1	0	0
MT1JP	4498	broad.mit.edu	37	16	56669811	56669811	+	RNA	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:56669811T>A	ENST00000564564.1	+	0	137																											GCCCCAGTACTGAGGGTCTCT	0.557000													10	78					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137811301	137811301	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:137811301C>A	ENST00000327532.2	-	5	1156	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.G265V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	265						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ATCTATTTCCCCATAAAGTTT	0.343000													11	89					0.00010058	0.000111412	1	1	0
GET4	51608	broad.mit.edu	37	7	927078	927078	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:927078C>A	ENST00000407192.1	+	3	2746	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	GET4_ENST00000265857.3_Missense_Mutation_p.L130M			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	130					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCCAGAGCCCTGAAGTGGTC	0.627000													7	152					0.248553	0.249709	1	1	0
KIF24	347240	broad.mit.edu	37	9	34297038	34297038	+	Silent	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:34297038T>A	ENST00000379166.2	-	4	1007	c.888A>T	c.(886-888)ccA>ccT	p.P296P	KIF24_ENST00000402558.2_Silent_p.P296P|KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379174.3_Intron	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	296	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCTGAATAAGTGGGTGAGTAG	0.299000													5	9					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234170	8234170	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:8234170G>T	ENST00000520004.1	-	3	2013	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	SGK223_ENST00000330777.4_Silent_p.P583P			Q86YV5	SG223_HUMAN		583							ATP binding|non-membrane spanning protein tyrosine kinase activity										ATGGAGGCTGGGGCCCAATGC	0.672000													7	50					0.000219431	0.000240595	1	1	0
CDH6	1004	broad.mit.edu	37	5	31294296	31294296	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:31294296C>A	ENST00000265071.2	+	3	721	c.456C>A	c.(454-456)atC>atA	p.I152I	CDH6_ENST00000514738.1_Silent_p.I97I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	152	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCATGACATCAATGACAATG	0.468000													39	309					3.05275e-18	4.64361e-18	1	1	0
DNMT3L	29947	broad.mit.edu	37	21	45666390	45666390	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:45666390G>T	ENST00000270172.3	-	12	1537	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	DNMT3L_ENST00000418993.1_Missense_Mutation_p.Q351K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	351					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTCGAGCTCTGCTTGTTCTGG	0.547000													6	57					0.00116845	0.00124943	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99723932	99723932	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:99723932G>A	ENST00000345514.2	-	2	569	c.303C>T	c.(301-303)tcC>tcT	p.S101S	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Silent_p.S101S	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	500						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGAGCGTGAGGAGGGTGGCG	0.592000			T	TLX3	T-ALL								20	69					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73944525	73944525	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:73944525G>C	ENST00000537812.1	-	13	2276	c.1628C>G	c.(1627-1629)aCa>aGa	p.T543R	ACOX1_ENST00000293217.5_Missense_Mutation_p.T581R|ACOX1_ENST00000301608.4_Missense_Mutation_p.T581R	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	581					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGAGGCTCTGTCATGATGCT	0.353000													30	61					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222834	41222834	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:41222834G>T	ENST00000249749.5	+	3	624	c.348G>T	c.(346-348)tcG>tcT	p.S116S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	116					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTACCTTCTCGCTCATCATCG	0.647000											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					1.12685e-05	1.30393e-05	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	73					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648984	130648984	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:130648984C>G	ENST00000229030.4	+	1	1981	c.1497C>G	c.(1495-1497)ccC>ccG	p.P499P	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	499					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCCATCCCCGCCGTGGAGA	0.557000													6	42					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262878	34262878	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:34262878G>T	ENST00000262622.3	+	4	943	c.185G>T	c.(184-186)gGc>gTc	p.G62V	CHST8_ENST00000438847.2_Missense_Mutation_p.G62V|CHST8_ENST00000434302.1_Missense_Mutation_p.G62V	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	62					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCACCAGGCGGCTCCCAGGAT	0.632000													19	80					2.35188e-11	3.22885e-11	1	1	0
CLTC	1213	broad.mit.edu	37	17	57737818	57737818	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:57737818G>A	ENST00000269122.3	+	7	1310	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	CLTC_ENST00000393043.1_Missense_Mutation_p.D346N|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	346	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACAAAATCCTGATTTGGCTCT	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								11	228					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38849176	38849176	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:38849176A>G	ENST00000409235.3	+	13	1586	c.1471A>G	c.(1471-1473)Atc>Gtc	p.I491V	CATSPERG_ENST00000215069.4_Missense_Mutation_p.I484V|CATSPERG_ENST00000410018.1_Missense_Mutation_p.I451V	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	491					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTGATCTTCATCTGGGGCAA	0.557000													24	93					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68895514	68895514	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:68895514G>T	ENST00000262340.5	-	14	1600	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	516					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTCCACTTCAGCCCGGGCAAC	0.448000													14	48					4.3838e-07	5.31967e-07	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16811358	16811358	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:16811358C>A	ENST00000355661.3	-	22	3130	c.3120G>T	c.(3118-3120)agG>agT	p.R1040S	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R1041S|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Missense_Mutation_p.G47V|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R1040S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1040					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CATTGAGACCCCTCCGGAGTG	0.592000													9	28					0.000673444	0.000728534	1	1	0
USP4	7375	broad.mit.edu	37	3	49322306	49322306	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:49322306A>G	ENST00000351842.4	-	16	2114	c.2106T>C	c.(2104-2106)ctT>ctC	p.L702L	USP4_ENST00000265560.4_Silent_p.L749L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	749					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CATCATAGTAAAGTCTCCGAG	0.507000													5	26					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30304976	30304976	+	Missense_Mutation	SNP	C	C	A	rs139370409		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:30304976C>A	ENST00000361371.4	-	28	5036	c.4886G>T	c.(4885-4887)cGa>cTa	p.R1629L	LTN1_ENST00000389194.2_Missense_Mutation_p.R1675L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1629							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGTAGTAGCTCGAGCTTTAAC	0.333000													19	99					6.33239e-15	9.13895e-15	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81777926	81777926	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:81777926A>C	ENST00000550584.2	-	8	1155	c.860T>G	c.(859-861)aTg>aGg	p.M287R	PPFIA2_ENST00000549396.1_Missense_Mutation_p.M287R|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M134R|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M213R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M287R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M188R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M269R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M287R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M269R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	213								p.M287T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACGTTCTTTCATCTGGGCCAT	0.418000													4	22					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276051	186276051	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:186276051C>T	ENST00000445192.2	+	7	1245	c.1200C>T	c.(1198-1200)acC>acT	p.T400T	PRG4_ENST00000367486.3_Silent_p.T357T|PRG4_ENST00000367484.3_Silent_p.T359T|PRG4_ENST00000367483.4_Silent_p.T359T|PRG4_ENST00000367485.4_Silent_p.T307T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	400	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T400T(3)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.647000													5	149					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639557	97639557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:97639557C>A	ENST00000298440.1	-	4	700	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S	OXGR1_ENST00000543457.1_Missense_Mutation_p.A153S	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	153						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ACAGCACAGGCTACAACTGCA	0.483000													22	34					3.5997e-14	5.16063e-14	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149916620	149916620	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:149916620C>G	ENST00000369135.3	-	12	1962	c.1668G>C	c.(1666-1668)ctG>ctC	p.L556L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	556					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGCTCTTCAGTGAGTTTT	0.582000													24	357					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324619	103324619	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:103324619G>T	ENST00000233969.2	+	12	2252	c.2110G>T	c.(2110-2112)Gtg>Ttg	p.V704L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	704						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGGGACCACCGTGCTCAATTT	0.498000													28	138					1.88708e-17	2.81758e-17	1	1	0
LYPD4	147719	broad.mit.edu	37	19	42341284	42341284	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:42341284G>T	ENST00000330743.3	-	5	1885	c.674C>A	c.(673-675)gCa>gAa	p.A225E	LYPD4_ENST00000343055.4_Missense_Mutation_p.A190E|LYPD4_ENST00000601246.1_Missense_Mutation_p.A190E	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	225						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGAGGATGCTGCACCAACAAT	0.502000													35	141					5.8336e-16	8.53313e-16	1	1	0
LCT	3938	broad.mit.edu	37	2	136567373	136567373	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:136567373G>T	ENST00000264162.2	-	8	2554	c.2544C>A	c.(2542-2544)ctC>ctA	p.L848L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	848	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCCCTTGGTGAGGAAACCGT	0.493000													79	230					2.84431e-33	4.56216e-33	1	1	0
CUL2	8453	broad.mit.edu	37	10	35318521	35318521	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:35318521T>C	ENST00000374748.1	-	16	1747	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	CUL2_ENST00000374749.3_Silent_p.T478T|CUL2_ENST00000537177.1_Silent_p.T497T|CUL2_ENST00000374746.1_Silent_p.T478T|CUL2_ENST00000374742.1_Silent_p.T478T|CUL2_ENST00000374751.3_Silent_p.T478T|CUL2_ENST00000602371.1_Silent_p.T421T			Q13617	CUL2_HUMAN	cullin 2	478					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CACTCATATCTGTATACATCC	0.303000													5	33					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833651	38833651	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:38833651C>A	ENST00000449082.2	-	2	278	c.279G>T	c.(277-279)atG>atT	p.M93I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	93					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTTCAGCACCATAAATGTCT	0.433000													32	159					2.80507e-11	3.81867e-11	1	1	0
BHLHB9	80823	broad.mit.edu	37	X	102005160	102005160	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:102005160A>G	ENST00000372735.1	+	4	1822	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	BHLHB9_ENST00000447531.1_Missense_Mutation_p.M413V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.M413V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.M413V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.M413V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	413						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAAAGAAACCATGTCATTTCC	0.363000													18	58					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176517	142176517	+	RNA	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142176517C>A	ENST00000390369.2	-	0	158																											TCTGTCGGTACCAATAAAGGG	0.552000													21	82					3.5997e-14	5.16063e-14	1	1	0
ADAM22	53616	broad.mit.edu	37	7	87760787	87760787	+	Nonstop_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:87760787A>T	ENST00000439864.1	+	11	1244	c.1029A>T	c.(1027-1029)tgA>tgT	p.*343C	ADAM22_ENST00000398204.4_Intron|ADAM22_ENST00000315984.7_Intron|ADAM22_ENST00000265727.7_Intron|ADAM22_ENST00000398209.3_Intron|ADAM22_ENST00000398201.4_Intron			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	0	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACTTTTTTTGATTCCATGTTA	0.328000													8	36					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89768529	89768529	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:89768529C>A	ENST00000448984.1	+	3	479	c.150C>A	c.(148-150)gtC>gtA	p.V50V	TRIM49C_ENST00000432771.1_Silent_p.V50V	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	50						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CATTTCTTGTCCAGTGCTCTG	0.458000													21	61					3.6726e-16	5.39648e-16	1	1	0
ZNF3	7551	broad.mit.edu	37	7	99669538	99669538	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:99669538T>C	ENST00000303915.6	-	5	1536	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ZNF3_ENST00000299667.4_Missense_Mutation_p.H190R|ZNF3_ENST00000424697.1_Missense_Mutation_p.H190R|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	190					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGTCTCTGATGTGAGATAAG	0.448000													19	168					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104545	142104545	+	RNA	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142104545G>T	ENST00000390379.1	-	0	8																											ACAGGAGCCCGATGCTCATGG	0.602000													47	85					5.82388e-19	8.92169e-19	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725397	140725397	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140725397C>A	ENST00000253812.6	+	1	1797	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTCGGGCCAGAACGCCT	0.706000													19	68					1.56452e-12	2.18966e-12	1	1	0
BCAT2	587	broad.mit.edu	37	19	49303514	49303514	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:49303514T>G	ENST00000402551.1	-	5	841	c.221A>C	c.(220-222)cAg>cCg	p.Q74P	BCAT2_ENST00000597011.1_Missense_Mutation_p.Q74P|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q22P|BCAT2_ENST00000545387.2_Missense_Mutation_p.Q22P|BCAT2_ENST00000598162.1_Missense_Mutation_p.Q114P|BCAT2_ENST00000316273.6_Missense_Mutation_p.Q114P			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	114						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GAGGCGCACCTGCTGGTCTTT	0.652000													20	46					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391979	48391979	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:48391979C>G	ENST00000380518.3	-	4	479	c.315G>C	c.(313-315)caG>caC	p.Q105H	COL2A1_ENST00000337299.6_Missense_Mutation_p.Q36H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	105					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTTCTCCTTTCTGTCCCTGAA	0.483000													5	81					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227152884	227152884	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:227152884G>T	ENST00000366779.1	+	8	3132	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	ADCK3_ENST00000366777.3_Missense_Mutation_p.A121S|ADCK3_ENST00000366778.1_Missense_Mutation_p.A69S|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.A46S|ADCK3_ENST00000366775.1_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	121					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGCCTACGTGGCCAGTGGACC	0.662000													28	32					1.17739e-12	1.65859e-12	1	1	0
OR4D11	219986	broad.mit.edu	37	11	59271761	59271761	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:59271761C>A	ENST00000313253.1	+	1	713	c.713C>A	c.(712-714)tCc>tAc	p.S238Y		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AAAGCCATCTCCACTTGCACC	0.557000													52	143					3.50607e-19	5.40936e-19	1	1	0
VWF	7450	broad.mit.edu	37	12	6134818	6134818	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:6134818G>T	ENST00000261405.5	-	24	3404	c.3150C>A	c.(3148-3150)atC>atA	p.I1050I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1050	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCTTCATGATGTTGTTAT	0.547000													7	14					7.48243e-07	9.02908e-07	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50090601	50090601	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:50090601C>T	ENST00000371564.3	-	5	1843	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	NFATC2_ENST00000414705.1_Missense_Mutation_p.V522M|NFATC2_ENST00000396009.3_Missense_Mutation_p.V542M	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	542	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACCAGTCTCACCCGCGTGTTC	0.537000													21	59					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17394937	17394937	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:17394937A>T	ENST00000380647.3	+	15	2569	c.2485A>T	c.(2485-2487)Aaa>Taa	p.K829*	CNTLN_ENST00000425824.1_Nonsense_Mutation_p.K829*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.K829*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	829						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GACCAAGGTTAAATTTAAAGC	0.428000													23	65					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802775	185802775	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:185802775C>A	ENST00000302277.6	+	4	3246	c.2652C>A	c.(2650-2652)aaC>aaA	p.N884K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	884						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCACCCTAACAATCTCCTTC	0.378000													19	91					1.01871e-10	1.35828e-10	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100951705	100951705	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:100951705C>A	ENST00000193391.7	-	15	3340	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1051	EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACAGAGACTCTGACAGGGCC	0.488000													14	108					1.49906e-05	1.71927e-05	1	1	0
PCLO	27445	broad.mit.edu	37	7	82584778	82584778	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:82584778A>T	ENST00000423517.2	-	5	5828	c.5491T>A	c.(5491-5493)Tct>Act	p.S1831T	PCLO_ENST00000333891.8_Missense_Mutation_p.S1831T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1762					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						TCAATGGGAGAGAGATTACTA	0.418000													40	280					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126071651	126071651	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:126071651C>A	ENST00000318410.7	-	13	2004	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.G404V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	552					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAAAGGTCCCCAACGATCTG	0.418000													16	70					3.52763e-06	4.17899e-06	1	1	0
CDH7	1005	broad.mit.edu	37	18	63477231	63477231	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:63477231G>C	ENST00000536984.2	+	3	1196	c.502G>C	c.(502-504)Gtg>Ctg	p.V168L	CDH7_ENST00000323011.3_Missense_Mutation_p.V168L|CDH7_ENST00000397968.2_Missense_Mutation_p.V168L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	168	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATGTCTCCCGTGGGTAAGTA	0.398000													44	58					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104106	53104106	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:53104106T>C	ENST00000408890.4	+	1	758	c.742T>C	c.(742-744)Tgt>Cgt	p.C248R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	248										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCAGTTTTTGTGATGATGC	0.632000													31	103					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504087	39504087	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:39504087T>G	ENST00000518318.2	+	10	1812	c.1770T>G	c.(1768-1770)ttT>ttG	p.F590L	POU6F2_ENST00000559001.1_Missense_Mutation_p.F571L|POU6F2_ENST00000403058.1_Missense_Mutation_p.F626L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	626					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCCCACTTTGAGAAGAACA	0.507000													10	37					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99006234	99006234	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:99006234G>A	ENST00000393504.1	+	6	980	c.563G>A	c.(562-564)tGc>tAc	p.C188Y	CNGA3_ENST00000272602.2_Missense_Mutation_p.C188Y|CNGA3_ENST00000436404.2_Missense_Mutation_p.C170Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.C192Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	188					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGCTTATTTGCAGGTAAGCG	0.612000													10	61					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44388607	44388607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:44388607G>T	ENST00000264664.4	-	1	292	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	60	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GCGCTGGAAGGAGAGGAGAAG	0.532000													19	87					1.67942e-08	2.11724e-08	1	1	0
DPEP2	64174	broad.mit.edu	37	16	68025750	68025750	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:68025750T>A	ENST00000412757.2	-	6	1318	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DPEP2_ENST00000393847.1_Missense_Mutation_p.N218I|DPEP2_ENST00000572888.1_Missense_Mutation_p.N218I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	218					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCAGGGTGTGTTGCAGGTGTG	0.587000													19	44					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70119798	70119798	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:70119798C>T	ENST00000245479.2	+	3	1172	c.800C>T	c.(799-801)cCt>cTt	p.P267L		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	267					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGACAGCCCCCTATCGACTTC	0.652000													26	187					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163470	32163470	+	RNA	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:32163470T>A	ENST00000564145.1	-	0	65																											ATGTGACACGTCCGCATGTCA	0.512000													17	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062076	9062076	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9062076C>T	ENST00000397910.4	-	3	25573	c.25370G>A	c.(25369-25371)aGg>aAg	p.R8457K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8459	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGTTCCCCTAGAGGATAT	0.507000													33	118					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577865	16577865	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:16577865C>A	ENST00000375592.3	-	10	1670	c.1454G>T	c.(1453-1455)cGa>cTa	p.R485L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAA	0.483000													16	47					3.41278e-10	4.48577e-10	1	1	0
ETV3L	440695	broad.mit.edu	37	1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577000													4	195					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716248	105716248	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:105716248G>A	ENST00000463376.2	+	3	1013	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.E158K|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E233K|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E233K|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	233						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GCAGACGCTGGAGATCATTGT	0.647000													8	25					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9985931	9985931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:9985931G>T	ENST00000279544.3	+	3	281	c.217G>T	c.(217-219)Gga>Tga	p.G73*	KLRF1_ENST00000324214.4_Intron|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.G73*|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	73					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ATGCCAAAAAGGAAGTTGTTC	0.363000													17	41					2.4624e-09	3.17223e-09	1	1	0
MED26	9441	broad.mit.edu	37	19	16687536	16687536	+	Missense_Mutation	SNP	G	G	A	rs141093074	byFrequency	TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:16687536G>A	ENST00000263390.3	-	3	1367	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R377W	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	369				R -> L (in Ref. 2; AAI10431).	regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AAGCCTGCCCGGGACAGGAGG	0.652000													19	18					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905686	139905686	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:139905686C>G	ENST00000297183.6	+	26	4722	c.4598C>G	c.(4597-4599)gCc>gGc	p.A1533G	ANKHD1_ENST00000360839.2_Missense_Mutation_p.A1533G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A1533G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAAAAGGGCCAATGTGGTG	0.413000													32	181					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753738	35753738	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:35753738C>T	ENST00000440995.2	+	24	3328	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C	SPEF2_ENST00000356031.3_Missense_Mutation_p.R1115C|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1115					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R1115S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGCGAGACCGCCTGTGGGA	0.478000													15	291					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9346111	9346111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:9346111G>A	ENST00000378501.2	+	6	468	c.453G>A	c.(451-453)tgG>tgA	p.W151*	PLCB4_ENST00000378493.1_Nonsense_Mutation_p.W151*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.W151*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.W151*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.W151*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.W151*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	151					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGCAGCTGGATGAAATTGG	0.373000													11	37					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725970	15725970	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:15725970G>A	ENST00000262041.5	-	1	467	c.58C>T	c.(58-60)Cac>Tac	p.H20Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	20					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GAGAACGGGTGCAAGCCTTGC	0.567000													12	17					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346804	10346804	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:10346804A>G	ENST00000255381.2	-	40	5818	c.5708T>C	c.(5707-5709)cTc>cCc	p.L1903P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1903					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCGTGCTGGAGCTTGCGGAA	0.473000													17	74					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241281	129241281	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:129241281G>T	ENST00000305031.4	+	1	1117	c.759G>T	c.(757-759)aaG>aaT	p.K253N	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	253						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACCTGGACAAGTATGAGTGGT	0.562000													33	138					1.56442e-22	2.44275e-22	1	1	0
MRPS6	64968	broad.mit.edu	37	21	35514760	35514760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:35514760G>T	ENST00000399312.2	+	3	416	c.238G>T	c.(238-240)Gag>Tag	p.E80*	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	80					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						AAGCATGGTGGAGCACTTGTC	0.408000													10	71					0.000978159	0.0010529	1	1	0
CYYR1	116159	broad.mit.edu	37	21	27945290	27945290	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:27945290G>T	ENST00000435845.2	-	1	313	c.294C>A	c.(292-294)ccC>ccA	p.P98P	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	139						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TTGGAGCGAAGGGAGAGCCCG	0.647000													11	46					6.40141e-05	7.21411e-05	1	1	0
CADPS	8618	broad.mit.edu	37	3	62570900	62570900	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:62570900C>A	ENST00000383710.4	-	8	1886	c.1537G>T	c.(1537-1539)Gct>Tct	p.A513S	CADPS_ENST00000357948.3_Missense_Mutation_p.A513S|CADPS_ENST00000283269.9_Missense_Mutation_p.A513S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	513					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTCGGACAGCAAGTTTGATT	0.453000													17	98					3.45872e-05	3.94586e-05	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27185207	27185207	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:27185207C>A	ENST00000335625.5	+	9	1748	c.860C>A	c.(859-861)cCa>cAa	p.P287Q	GABRA5_ENST00000355395.5_Missense_Mutation_p.P287Q|GABRA5_ENST00000400081.3_Missense_Mutation_p.P287Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	287					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAATCAGTCCCAGCCAGGACA	0.517000													11	20					0.010729	0.0111417	1	1	0
TPR	7175	broad.mit.edu	37	1	186295304	186295304	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:186295304C>A	ENST00000367478.3	-	41	6249	c.5953G>T	c.(5953-5955)Ggt>Tgt	p.G1985C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1985					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ctatcttcaccctcatcTCCC	0.403000			T	NTRK1	papillary thyroid								25	47					1.42536e-11	1.96517e-11	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321543	52321543	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:52321543C>A	ENST00000356297.4	-	17	2741	c.2641G>T	c.(2641-2643)Gtc>Ttc	p.V881F	PXDNL_ENST00000543296.1_Missense_Mutation_p.V881F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	881					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGTGCATAGACTGAATCCACC	0.662000													12	77					5.50884e-06	6.44355e-06	1	1	0
ZNF644	84146	broad.mit.edu	37	1	91405102	91405102	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:91405102C>T	ENST00000370440.1	-	3	2026	c.1809G>A	c.(1807-1809)aaG>aaA	p.K603K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.K603K|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTCCGTGTGCTTTTTTAAAA	0.353000													49	74					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100960719	100960719	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:100960719C>G	ENST00000369162.2	-	40	6495	c.6151G>C	c.(6151-6153)Gaa>Caa	p.E2051Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTATGTCCTTCAACTAAGTCA	0.383000													8	62					0	0	1	0	0
COPRS	55352	broad.mit.edu	37	17	30179859	30179859	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:30179859C>T	ENST00000378634.2	-	3	574	c.321G>A	c.(319-321)gaG>gaA	p.E107E	COPRS_ENST00000302362.6_Silent_p.E119E					coordinator of PRMT5, differentiation stimulator																		CTGCTTTCAACTCCGAGTCCC	0.522000													22	165					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016437	121016437	+	Silent	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:121016437T>A	ENST00000392793.1	+	12	3988	c.3717T>A	c.(3715-3717)ggT>ggA	p.G1239G	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.G1239G			O75443	TECTA_HUMAN	tectorin alpha	1239	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCACCTATGGTCTGTGTGGCC	0.532000													14	44					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128711	51128711	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:51128711C>A	ENST00000338916.4	-	6	2146	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y	SYT3_ENST00000593901.1_Missense_Mutation_p.D505Y|SYT3_ENST00000544769.1_Missense_Mutation_p.D505Y|SYT3_ENST00000600079.1_Missense_Mutation_p.D505Y	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	505	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGGCCACGTCGAACACCAGC	0.652000													6	9					0.0215528	0.0221334	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163174536	163174536	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:163174536G>A	ENST00000263642.2	-	1	677	c.282C>T	c.(280-282)taC>taT	p.Y94Y	IFIH1_ENST00000421365.2_Silent_p.Y94Y	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	94	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAGGGTTCATGTAGCGGGCGG	0.587000													20	164					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188092	140188092	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:140188092T>A	ENST00000530339.1	+	1	1320	c.1320T>A	c.(1318-1320)agT>agA	p.S440R	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S440R|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S440R|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGGCCAGTGTTTCTGTGG	0.652000													43	126					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102676039	102676039	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:102676039C>T	ENST00000335263.5	+	3	1612	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	WDR20_ENST00000342702.3_Missense_Mutation_p.T511M|WDR20_ENST00000545563.1_Missense_Mutation_p.T338M|WDR20_ENST00000424963.2_Missense_Mutation_p.T387M|WDR20_ENST00000499851.2_Missense_Mutation_p.T254M|WDR20_ENST00000454394.2_Missense_Mutation_p.T542M|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Missense_Mutation_p.T450M|WDR20_ENST00000556511.2_Missense_Mutation_p.T450M	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	511										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACTCTGGGAACGCCCCTGTGT	0.433000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	90					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731816	88731816	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:88731816C>T	ENST00000226284.5	+	6	372	c.305C>T	c.(304-306)gCt>gTt	p.A102V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	102	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GACTCTGAGGCTGAGAATACC	0.423000													48	77					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17644491	17644491	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:17644491T>C	ENST00000335393.4	+	5	639	c.501T>C	c.(499-501)gcT>gcC	p.A167A	FAM129C_ENST00000300971.2_Silent_p.A167A|FAM129C_ENST00000352727.3_Silent_p.A167A|FAM129C_ENST00000599124.1_Silent_p.A136A|FAM129C_ENST00000332386.5_Silent_p.A167A|FAM129C_ENST00000599164.1_Silent_p.A136A|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Silent_p.A136A|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000595684.1_Silent_p.A167A|FAM129C_ENST00000600871.1_Silent_p.A113A	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	167										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TTTTGGATGCTCTCTGCCCTG	0.552000													14	65					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117633	31117633	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:31117633C>A	ENST00000304166.4	+	4	474	c.185C>A	c.(184-186)aCg>aAg	p.T62K	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T62K|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T62K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T62K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	62					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GACAACATCACGTGTTGGAAG	0.577000													28	51					1.39806e-14	2.0132e-14	1	1	0
TYW3	127253	broad.mit.edu	37	1	75229780	75229780	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:75229780T>A	ENST00000370867.3	+	6	852	c.763T>A	c.(763-765)Ttc>Atc	p.F255I	TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.F222I|TYW3_ENST00000421739.2_Missense_Mutation_p.F171I	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	255					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TGTTACCATCTTCCCTGAAGA	0.353000													6	72					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716227	105716227	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:105716227G>A	ENST00000463376.2	+	3	992	c.451G>A	c.(451-453)Gag>Aag	p.E151K	BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.E151K|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E226K|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E226K|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	226	BTB.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AGGCTTCTGTGAGATAGACCG	0.637000													6	31					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944193	50944193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:50944193G>T	ENST00000374103.4	-	22	2870	c.2785C>A	c.(2785-2787)Cag>Aag	p.Q929K	OGDHL_ENST00000419399.1_Missense_Mutation_p.Q872K|OGDHL_ENST00000432695.1_Missense_Mutation_p.Q720K|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	929					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTGCCTCCTGCTTGATCAGG	0.582000													5	23					0.014758	0.0152038	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25336860	25336860	+	RNA	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:25336860C>T	ENST00000546682.1	+	0	963				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GCTGGTGGATCCCACAGGTTG	0.502000													10	27					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513664	61513664	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:61513664C>A	ENST00000266070.4	-	16	3969	c.3644G>T	c.(3643-3645)cGg>cTg	p.R1215L	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1215L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1215					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGTCGGGTCCGCTTTTCGTC	0.498000													53	89					9.40368e-32	1.50459e-31	1	1	0
RALYL	138046	broad.mit.edu	37	8	85799899	85799899	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:85799899A>T	ENST00000521268.1	+	8	1851	c.746A>T	c.(745-747)gAg>gTg	p.E249V	RALYL_ENST00000518566.1_Missense_Mutation_p.E238V|RALYL_ENST00000521695.1_Missense_Mutation_p.E249V|RALYL_ENST00000522455.1_Missense_Mutation_p.E249V|RALYL_ENST00000523850.1_Missense_Mutation_p.E176V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.E262V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	249							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGTGTGTCAGAGATTGCAGAT	0.507000													16	105					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739109	42739109	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:42739109G>T	ENST00000441594.1	-	7	1017	c.756C>A	c.(754-756)ggC>ggA	p.G252G	HHATL_ENST00000310417.5_Silent_p.G252G	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	252					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCACGCTTAGGCCTGCCTGGG	0.612000													15	93					6.31663e-08	7.87149e-08	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207175955	207175955	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:207175955C>A	ENST00000374423.3	+	5	7089	c.6703C>A	c.(6703-6705)Cgt>Agt	p.R2235S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2235							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTCTTTTTACGTCATAGATA	0.378000													4	27					0.014758	0.0152038	1	1	0
SLC18A2	6571	broad.mit.edu	37	10	119015015	119015015	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:119015015G>T	ENST00000298472.5	+	8	959	c.816G>T	c.(814-816)ccG>ccT	p.P272P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	272					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGCTCCAGCCGTCCCGGGTGC	0.542000													6	47					0.0293803	0.0301241	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156874635	156874635	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:156874635C>A	ENST00000338302.3	+	4	422	c.197C>A	c.(196-198)cCc>cAc	p.P66H	PEAR1_ENST00000292357.7_Missense_Mutation_p.P66H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	66	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATACTTGCCCCCAGCCCACG	0.657000													24	106					1.96895e-08	2.47263e-08	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20568908	20568908	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:20568908G>T	ENST00000504154.1	+	27	3001	c.2749G>T	c.(2749-2751)Gct>Tct	p.A917S	SLIT2_ENST00000503823.1_Missense_Mutation_p.A909S|SLIT2_ENST00000503837.1_Missense_Mutation_p.A913S|SLIT2_ENST00000273739.5_Missense_Mutation_p.A921S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	917					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAATATTCTAGCTAAGTGTAA	0.358000													21	145					0.00188189	0.00200241	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27878367	27878367	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:27878367C>T	ENST00000374011.2	-	6	1228	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R87Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	87	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACGGGCTGCCCGTGGGGGCAG	0.736000													31	54					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30986344	30986344	+	RNA	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:30986344C>T	ENST00000435645.1	+	0	334																											GAACCTCGAGCTTCGGCGCTC	0.572000													9	23					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17378938	17378938	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:17378938C>G	ENST00000242057.4	+	10	2132	c.1489C>G	c.(1489-1491)Caa>Gaa	p.Q497E	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	497					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGAAATTGGCAAGATAATAC	0.403000													42	124					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56481691	56481691	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:56481691C>T	ENST00000370765.6	-	24	6681	c.6574G>A	c.(6574-6576)Gaa>Aaa	p.E2192K	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1551					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGCATCTTCAACAGAATAT	0.393000													13	59					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390206	37390206	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:37390206G>C	ENST00000338564.5	-	3	653	c.207C>G	c.(205-207)gtC>gtG	p.V69V	MEIS2_ENST00000444725.1_Silent_p.V69V|MEIS2_ENST00000424352.2_Silent_p.V69V|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000382766.2_Silent_p.V69V|MEIS2_ENST00000340545.5_Silent_p.V56V|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000561208.1_Silent_p.V69V|MEIS2_ENST00000559561.1_Silent_p.V69V|MEIS2_ENST00000559085.1_Silent_p.V56V|MEIS2_ENST00000557796.2_Silent_p.V56V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	69					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGGCGTCGTTGACAGCGGATC	0.617000													12	88					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499828	90499828	+	Splice_Site	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:90499828C>G	ENST00000325643.5	+	4	492	c.425_splice	c.e4-1	p.S142_splice		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TCTCCTGCAGCCACCTGAGGA	0.672000													5	27					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859584	100859584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:100859584C>A	ENST00000223127.3	-	4	760	c.362G>T	c.(361-363)aGc>aTc	p.S121I		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	121					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTGTGGGGCTGCCGGCCAG	0.647000													31	69					1.06801e-11	1.47563e-11	1	1	0
GLI3	2737	broad.mit.edu	37	7	42079717	42079717	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:42079717G>A	ENST00000395925.3	-	7	1032	c.948C>T	c.(946-948)tcC>tcT	p.S316S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	316					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGTGACCAAGGAGTTGGGAG	0.488000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	128					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181251	79181251	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:79181251T>G	ENST00000554719.1	+	5	1185	c.694T>G	c.(694-696)Tat>Gat	p.Y232D	NRXN3_ENST00000335750.5_Missense_Mutation_p.Y232D	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATGCTCAACTATGGCTACGT	0.582000													10	59					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192129	51192129	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:51192129C>A	ENST00000293441.1	-	16	2162	c.2144G>T	c.(2143-2145)gGa>gTa	p.G715V	SHANK1_ENST00000391813.1_Missense_Mutation_p.G102V|SHANK1_ENST00000391814.1_Missense_Mutation_p.G715V|SHANK1_ENST00000359082.3_Missense_Mutation_p.G706V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	715	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CATTCGCAGTCCAGCTCGCCA	0.652000													6	13					1.6384e-10	2.17113e-10	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904178	144904178	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:144904178C>T	ENST00000370490.1	+	1	4490	c.235C>T	c.(235-237)Cca>Tca	p.P79S	SLITRK2_ENST00000413937.2_Missense_Mutation_p.P79S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P79S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P79S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P79S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	79						integral to membrane		p.P79T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTGTATCCAAACGAATT	0.468000													17	46					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116186581	116186581	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:116186581C>G	ENST00000288462.4	+	8	1238	c.792C>G	c.(790-792)caC>caG	p.H264Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.H264Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	264										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TATCTATACACCGCCTCACCC	0.408000													23	150					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671709	125671709	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1255					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1255I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTATCATCGGCATCATGA	0.468000													27	154					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049385	109049385	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:109049385G>A	ENST00000335658.6	-	5	719	c.665C>T	c.(664-666)cCa>cTa	p.P222L	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	222						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGCCTCTTGTGGAGATTCCAC	0.483000													11	77					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155655	98155655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:98155655C>A	ENST00000357947.3	-	12	1732	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	503	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTAAGTCCCACGTGAAAC	0.493000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	52					1.5842e-08	2.005e-08	1	1	0
SLC4A2	6522	broad.mit.edu	37	7	150771368	150771368	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:150771368C>G	ENST00000485713.1	+	17	3818	c.2778C>G	c.(2776-2778)ttC>ttG	p.F926L	SLC4A2_ENST00000461735.1_Missense_Mutation_p.F912L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.F917L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.F844L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.F926L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	926	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGCCGGTTCTTTCCTGGCC	0.647000													4	189					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926454	31926454	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:31926454A>G	ENST00000300870.10	+	4	1093	c.884A>G	c.(883-885)tAt>tGt	p.Y295C	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	295					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GAAAACTCATATAGCTATAAC	0.303000													19	23					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133082	38133082	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:38133082T>C	ENST00000301659.4	+	12	1227	c.1109T>C	c.(1108-1110)aTg>aCg	p.M370T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	370					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAGAGCACGATGGAACAGAAC	0.502000													13	110					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187627905	187627905	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:187627905T>A	ENST00000441802.2	-	2	3286	c.3077A>T	c.(3076-3078)aAt>aTt	p.N1026I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1026	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGGTTCTCATTCACATCAAC	0.463000										HNSCC(5;0.00058)			23	76					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192664	128192664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:128192664C>A	ENST00000284694.7	-	3	1225	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	C10orf90_ENST00000544758.1_Nonsense_Mutation_p.E466*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.E322*|C10orf90_ENST00000392694.1_Nonsense_Mutation_p.E322*|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.E369*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	369										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTGTGTTTTCCAATGGAAAA	0.488000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	63					0.248553	0.249709	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9346110	9346110	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:9346110G>T	ENST00000378501.2	+	6	467	c.452G>T	c.(451-453)tGg>tTg	p.W151L	PLCB4_ENST00000378493.1_Missense_Mutation_p.W151L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.W151L|PLCB4_ENST00000334005.3_Missense_Mutation_p.W151L|PLCB4_ENST00000414679.2_Missense_Mutation_p.W151L|PLCB4_ENST00000378473.3_Missense_Mutation_p.W151L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	151					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTGCAGCTGGATGAAATTG	0.373000													11	36					1.58986e-06	1.9008e-06	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49670204	49670204	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:49670204C>A	ENST00000561648.1	-	4	2912	c.2859G>T	c.(2857-2859)cgG>cgT	p.R953R	ZNF423_ENST00000563137.2_Silent_p.R893R|ZNF423_ENST00000567169.1_Silent_p.R836R|ZNF423_ENST00000535559.1_Silent_p.R836R|ZNF423_ENST00000262383.2_Silent_p.R953R|ZNF423_ENST00000562871.1_Silent_p.R893R|ZNF423_ENST00000562520.1_Silent_p.R893R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	953					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGCAGGGCCCCGGTGCGTCT	0.577000													5	35					0.014758	0.0152038	1	1	0
MGLL	11343	broad.mit.edu	37	3	127540591	127540591	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:127540591T>C	ENST00000434178.2	-	2	967	c.71A>G	c.(70-72)aAt>aGt	p.N24S	MGLL_ENST00000453507.2_Missense_Mutation_p.N34S|MGLL_ENST00000398104.1_Missense_Mutation_p.N24S|MGLL_ENST00000265052.5_Missense_Mutation_p.N34S			Q99685	MGLL_HUMAN	monoglyceride lipase	24					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCCGTCTGCATTGACCAGGTG	0.582000													20	138					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954793	33954793	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:33954793T>A	ENST00000389232.4	+	35	5132	c.5062T>A	c.(5062-5064)Ttg>Atg	p.L1688M	RYR3_ENST00000415757.3_Missense_Mutation_p.L1688M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1688	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGAGATTCCCTTGGAGAGTCT	0.587000													16	83					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667550	72667550	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:72667550A>T	ENST00000373514.2	+	1	461	c.461A>T	c.(460-462)cAc>cTc	p.H154L		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGAGCCGCCACAGCCCCTAT	0.627000													36	19					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106907446	106907446	+	Silent	SNP	G	G	A	rs150451910		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:106907446G>A	ENST00000369701.3	+	9	1601	c.1374G>A	c.(1372-1374)acG>acA	p.T458T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	458						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAACGACACGTACAACCTCT	0.463000													26	47					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127705001	127705001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:127705001C>A	ENST00000508053.1	-	22	3096	c.2122G>T	c.(2122-2124)Gga>Tga	p.G708*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.G675*|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Nonsense_Mutation_p.G708*			P35556	FBN2_HUMAN	fibrillin 2	708	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGATTCCTCCATAGCAGGTA	0.463000													11	43					5.50884e-06	6.44355e-06	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24339758	24339758	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:24339758G>T	ENST00000175238.6	+	9	892	c.809G>T	c.(808-810)cGt>cTt	p.R270L	ADAM7_ENST00000520720.1_Missense_Mutation_p.R42L|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R270L|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	270	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCTTATTGCGTTTTTCATTT	0.323000													7	61					8.12818e-05	9.06551e-05	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171484874	171484874	+	Splice_Site	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:171484874A>T	ENST00000367742.3	+	5	644	c.400_splice	c.e5-1	p.G134_splice	PRRC2C_ENST00000426496.2_Splice_Site_p.G132_splice|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Splice_Site_p.G134_splice|PRRC2C_ENST00000338920.4_Splice_Site_p.G132_splice			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	132							protein C-terminus binding										AATCTATAGGAATCCAAGTGA	0.368000													5	27					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285065	220285065	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:220285065A>T	ENST00000373960.3	+	3	818	c.732A>T	c.(730-732)gaA>gaT	p.E244D		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	244	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGTGCATGAAGAGGTATACC	0.562000													6	32					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215342691	215342691	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:215342691G>T	ENST00000444842.2	+	4	775	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	KCNK2_ENST00000391894.2_Missense_Mutation_p.D194Y|KCNK2_ENST00000391895.2_Missense_Mutation_p.D205Y	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	209							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	caaagtggaAGATACGTTTAT	0.338000													7	15					8.12818e-05	9.06551e-05	1	1	0
RYR3	6263	broad.mit.edu	37	15	33941391	33941391	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:33941391C>A	ENST00000389232.4	+	31	4167	c.4097C>A	c.(4096-4098)aCa>aAa	p.T1366K	RYR3_ENST00000415757.3_Missense_Mutation_p.T1366K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1366	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAACTGCACAGTGACTGTC	0.542000													23	115					1.9806e-07	2.43998e-07	1	1	0
ZNF578	147660	broad.mit.edu	37	19	53015298	53015298	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:53015298C>A	ENST00000421239.2	+	6	1908	c.1664C>A	c.(1663-1665)gCa>gAa	p.A555E	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCTTATCTGGCAAACCATACT	0.403000													5	62					3.59834e-05	4.09074e-05	1	1	0
MYH1	4619	broad.mit.edu	37	17	10411687	10411687	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:10411687C>T	ENST00000226207.5	-	16	1984	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	630	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A630A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACCTGCTTCCGCTCCCGTTG	0.463000													18	59					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138251	32138251	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:32138251G>A	ENST00000312561.4	+	4	4776	c.4362G>A	c.(4360-4362)aaG>aaA	p.K1454K	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAAGGCAGAAGCATAAAGAAG	0.368000													54	72					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084028	152084028	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:152084028C>G	ENST00000368804.1	-	2	1664	c.1665G>C	c.(1663-1665)gaG>gaC	p.E555D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	555	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGCCTCTTCTCCTCCTCGC	0.657000													7	371					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570404	55570404	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:55570404C>T	ENST00000373965.2	-	35	4809	c.4415G>A	c.(4414-4416)gGg>gAg	p.G1472E	PCDH15_ENST00000409834.1_Missense_Mutation_p.G1100R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1472E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1489R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1469E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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			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)				ACGGCGACTCCCATATTGAGG	0.408000										HNSCC(58;0.16)			32	128					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969439	103969439	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:103969439G>T	ENST00000535008.1	+	1	336	c.212G>T	c.(211-213)gGc>gTc	p.G71V	LHFPL3_ENST00000424859.1_Missense_Mutation_p.G57V|LHFPL3_ENST00000543266.1_Missense_Mutation_p.G71V|LHFPL3_ENST00000401970.2_Missense_Mutation_p.G57V			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	57						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CCGCAAGCCGGCTATTTCGGG	0.632000													35	86					4.4194e-11	5.99116e-11	1	1	0
GDF2	2658	broad.mit.edu	37	10	48414412	48414412	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:48414412G>T	ENST00000249598.1	-	2	615	c.456C>A	c.(454-456)ctC>ctA	p.L152L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	152					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGAGACATAGAGTCGGAGCT	0.498000													15	48					3.45872e-05	3.94586e-05	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13850183	13850183	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:13850183G>C	ENST00000284951.5	-	14	1295	c.1221C>G	c.(1219-1221)ccC>ccG	p.P407P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P407P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	407						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTGTGCGTCGGGCCACCCTT	0.388000													5	48					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694695	42694695	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:42694695C>A	ENST00000358131.5	+	6	1458	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	TOX2_ENST00000341197.3_Missense_Mutation_p.P435H|TOX2_ENST00000372999.1_Missense_Mutation_p.P393H|TOX2_ENST00000423191.1_Missense_Mutation_p.P393H|TOX2_ENST00000435864.2_Missense_Mutation_p.P313H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCCCACCCCCATGGCACTC	0.677000													11	24					2.27111e-07	2.77675e-07	1	1	0
PEX6	5190	broad.mit.edu	37	6	42942679	42942679	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:42942679G>A	ENST00000304611.8	-	2	1049	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PEX6_ENST00000244546.4_Missense_Mutation_p.S327F	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	327					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GTGGGGAGAAGACACAATTTC	0.478000													19	139					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114280154	114280154	+	Silent	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:114280154A>T	ENST00000357077.4	+	38	10433	c.10380A>T	c.(10378-10380)acA>acT	p.T3460T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T3427T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3427					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGAGCCCCACAAAAGAAAGTA	0.448000													14	51					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937147	15937147	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:15937147G>A	ENST00000504595.1	+	4	1809	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	FBXL7_ENST00000510662.1_Missense_Mutation_p.G396D|FBXL7_ENST00000329673.7_Missense_Mutation_p.G431D	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	443					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCATCACCGGCCAGGGCTTG	0.617000													9	83					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155656	98155656	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:98155656C>A	ENST00000357947.3	-	12	1731	c.1506G>T	c.(1504-1506)gtG>gtT	p.V502V	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	502	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTAAGTCCCACGTGAAACC	0.493000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	52					1.5842e-08	2.005e-08	1	1	0
NAB2	4665	broad.mit.edu	37	12	57486979	57486979	+	Splice_Site	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:57486979G>A	ENST00000300131.3	+	5	1654		c.e5+1		NAB2_ENST00000342556.6_Splice_Site|NAB2_ENST00000357680.4_Splice_Site	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)						cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATTTGCAGGGTGAGTGTGCC	0.617000													16	94					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50771536	50771536	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:50771536G>T	ENST00000403097.1	-	4	883	c.103C>A	c.(103-105)Cga>Aga	p.R35R	GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000357271.5_Silent_p.R41R|GRB10_ENST00000439599.1_Silent_p.R35R|GRB10_ENST00000401949.1_Silent_p.R41R|GRB10_ENST00000398812.2_Silent_p.R41R|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000402497.1_5'UTR			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	41					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TTCGCAAGTCGGTCAGACTGT	0.517000									Russell-Silver syndrome				4	81					0.000602214	0.000652567	1	1	0
ABT1	29777	broad.mit.edu	37	6	26597232	26597232	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:26597232A>T	ENST00000274849.1	+	1	53	c.22A>T	c.(22-24)Aag>Tag	p.K8*		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	8					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GGAATCGGAGAAGGCCGCAAC	0.602000													3	15					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161292749	161292749	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:161292749T>C	ENST00000428797.2	+	5	565	c.210T>C	c.(208-210)acT>acC	p.T70T	GABRA1_ENST00000444819.1_Silent_p.T70T|GABRA1_ENST00000023897.6_Silent_p.T70T|GABRA1_ENST00000437025.2_Silent_p.T70T|GABRA1_ENST00000393943.4_Silent_p.T70T|GABRA1_ENST00000420560.1_Silent_p.T70T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	70					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAGTGAAGACTGATATCTTCG	0.413000													32	131					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18326996	18326996	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:18326996A>G	ENST00000396253.3	-	7	989	c.527T>C	c.(526-528)tTg>tCg	p.L176S	HPS5_ENST00000349215.3_Missense_Mutation_p.L290S|HPS5_ENST00000531848.1_Missense_Mutation_p.L176S|HPS5_ENST00000438420.2_Missense_Mutation_p.L176S	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	290						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGGAAAGACAAAGACTGGGA	0.343000									Hermansky-Pudlak syndrome				13	71					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737479	247737479	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:247737479G>T	ENST00000366491.2	+	7	640	c.143G>T	c.(142-144)tGc>tTc	p.C48F	GCSAML_ENST00000527541.1_Missense_Mutation_p.C36F|GCSAML_ENST00000527084.1_Missense_Mutation_p.C36F|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.C48F|GCSAML_ENST00000366488.4_Missense_Mutation_p.C68F|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.C48F|GCSAML_ENST00000463359.1_Missense_Mutation_p.C36F					germinal center-associated, signaling and motility-like																		GAAGAAGTGTGCTACACTGTC	0.443000													48	98					8.00217e-19	1.22297e-18	1	1	0
MARCH1	55016	broad.mit.edu	37	4	164534585	164534585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:164534585G>T	ENST00000339875.5	-	1	101	c.72C>A	c.(70-72)taC>taA	p.Y24*	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGTTAAGGTAATACATGG	0.403000													24	57					6.44725e-10	8.42302e-10	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101817643	101817643	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:101817643C>A	ENST00000375001.3	+	34	3604	c.3181C>A	c.(3181-3183)Cca>Aca	p.P1061T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1061	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCCGGAAATCCAGGCCCGGC	0.542000													13	25					2.61681e-11	3.56989e-11	1	1	0
IGLV1-44	28823	broad.mit.edu	37	22	22735599	22735599	+	RNA	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:22735599C>A	ENST00000390297.2	+	0	350																											TCAGGGGTCCCTGACCGATTC	0.542000													34	182					1.23103e-26	1.95038e-26	1	1	0
BTNL3	10917	broad.mit.edu	37	5	180416030	180416030	+	Translation_Start_Site	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:180416030T>C	ENST00000342868.6	+	1	186	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	1					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGAATATCCATGGCTTTTGTG	0.458000													3	13					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38629035	38629035	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:38629035C>A	ENST00000413689.1	-	15	2485	c.2292G>T	c.(2290-2292)atG>atT	p.M764I	SCN5A_ENST00000414099.2_Missense_Mutation_p.M764I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M764I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M764I|SCN5A_ENST00000333535.4_Missense_Mutation_p.M764I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M764I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M764I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M764I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M764I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M764I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	764					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTTGAAGGTCATCTCTGCTG	0.542000													5	49					0.000602214	0.000652567	1	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286084	11286084	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:11286084T>A	ENST00000539585.1	-	1	1159	c.760A>T	c.(760-762)Agg>Tgg	p.R254W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTTCCAGCCTCCCAAAATTA	0.403000													26	143					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861697	45861697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:45861697C>A	ENST00000397928.1	+	32	4954	c.4509C>A	c.(4507-4509)taC>taA	p.Y1503*	TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Y1449*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Y1503*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Y1553*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1503						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTCACTACTGACTGTGCC	0.632000													7	38					8.12818e-05	9.06551e-05	1	1	0
SFXN5	94097	broad.mit.edu	37	2	73268005	73268005	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:73268005C>A	ENST00000272433.2	-	3	357	c.227G>T	c.(226-228)cGc>cTc	p.R76L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.R76L	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	76					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	p.R76H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GACCCCCGGGCGCAGGGTCCC	0.562000													13	39					0.00185496	0.00197699	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2026979	2026979	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:2026979C>T	ENST00000262113.4	+	12	1568	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	476					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GATGCGGTGGCTGCACTTGAC	0.542000													33	162					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808726	2808726	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:2808726C>A	ENST00000520002.1	-	67	10669	c.10114G>T	c.(10114-10116)Gcc>Tcc	p.A3372S	CSMD1_ENST00000602723.1_Missense_Mutation_p.A3195S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3195S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3372S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3194S|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3371S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3372						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)		GTTAGAGTGGCGGGTTGTCTT	0.483000													3	18					0.004672	0.0048988	1	1	0
MED12L	116931	broad.mit.edu	37	3	151102937	151102937	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:151102937A>G	ENST00000474524.1	+	34	4979	c.4941A>G	c.(4939-4941)aaA>aaG	p.K1647K	MED12L_ENST00000273432.4_Silent_p.K1507K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1647					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGACACAAAAGGAAACAAAA	0.318000													11	112					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21288428	21288428	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:21288428G>T	ENST00000354336.3	+	2	1182	c.673G>T	c.(673-675)Gca>Tca	p.A225S		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	225					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TTCTCCTGGGGCAGCAATCAC	0.493000													27	78					5.77227e-19	8.86358e-19	1	1	0
FAM129C	199786	broad.mit.edu	37	19	17644492	17644492	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:17644492C>T	ENST00000335393.4	+	5	640	c.502C>T	c.(502-504)Ctc>Ttc	p.L168F	FAM129C_ENST00000300971.2_Missense_Mutation_p.L168F|FAM129C_ENST00000352727.3_Missense_Mutation_p.L168F|FAM129C_ENST00000599124.1_Missense_Mutation_p.L137F|FAM129C_ENST00000332386.5_Missense_Mutation_p.L168F|FAM129C_ENST00000599164.1_Missense_Mutation_p.L137F|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Missense_Mutation_p.L137F|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.L168F|FAM129C_ENST00000600871.1_Missense_Mutation_p.L114F	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	168										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TTTGGATGCTCTCTGCCCTGA	0.557000													14	64					0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75936060	75936060	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:75936060G>T	ENST00000435893.2	+	4	647	c.374G>T	c.(373-375)cGg>cTg	p.R125L	JDP2_ENST00000437176.1_Missense_Mutation_p.R125L|JDP2_ENST00000419727.2_Missense_Mutation_p.R125L|JDP2_ENST00000267569.5_Missense_Mutation_p.R136L	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	125	Leucine-zipper.					nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AAGCAGGAGCGGCAGCAGCTC	0.582000													13	44					5.50884e-06	6.44355e-06	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930459	46930459	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:46930459A>G	ENST00000264318.3	-	9	2430	c.1448T>C	c.(1447-1449)cTg>cCg	p.L483P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	483					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATCCTCTGCAGTCTTGATCC	0.493000													21	115					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32620340	32620340	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:32620340G>T	ENST00000266086.4	-	13	1590	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	527					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAAAAGTACAGATAGTGCACT	0.448000													6	35					5.9392e-07	7.18023e-07	1	1	0
GPRIN3	285513	broad.mit.edu	37	4	90170573	90170573	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:90170573G>C	ENST00000333209.3	-	2	1207	c.689C>G	c.(688-690)tCt>tGt	p.S230C		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	230										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTCATTTCAGAGTCACAGAT	0.547000													14	47					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78388594	78388594	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:78388594G>T	ENST00000397909.2	+	6	856	c.683G>T	c.(682-684)aGa>aTa	p.R228I	NAV3_ENST00000536525.2_Missense_Mutation_p.R228I|NAV3_ENST00000228327.6_Missense_Mutation_p.R228I|NAV3_ENST00000266692.7_Missense_Mutation_p.R228I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	228						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGGCAGCCAGATATGCAACT	0.338000										HNSCC(70;0.22)			23	34					4.26978e-12	5.93737e-12	1	1	0
UNCX	340260	broad.mit.edu	37	7	1273287	1273287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:1273287G>T	ENST00000316333.8	+	2	517	c.406G>T	c.(406-408)Gag>Tag	p.E136*		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	136					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTCATGCGCGAGGCGCTGGC	0.677000													34	91					6.97489e-18	1.05601e-17	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141591909	141591909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:141591909C>A	ENST00000442267.2	-	7	1305	c.1231G>T	c.(1231-1233)Gag>Tag	p.E411*		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	411						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCTGCAAACTCCTTGTCAGAA	0.413000													19	50					5.03518e-11	6.78337e-11	1	1	0
TRIM49C	642612	broad.mit.edu	37	11	89768530	89768530	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:89768530C>A	ENST00000448984.1	+	3	480	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	TRIM49C_ENST00000432771.1_Missense_Mutation_p.Q51K	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	51						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						ATTTCTTGTCCAGTGCTCTGA	0.458000													23	61					2.41591e-17	3.59062e-17	1	1	0
IGLV1-44	28823	broad.mit.edu	37	22	22735598	22735598	+	RNA	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:22735598C>A	ENST00000390297.2	+	0	349																											CTCAGGGGTCCCTGACCGATT	0.547000													35	181					8.48111e-28	1.35031e-27	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48584805	48584805	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:48584805C>T	ENST00000342988.3	+	7	1421	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Missense_Mutation_p.P295S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	295	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCCGCCTATGCCGCCCCATCC	0.433000													4	67					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815260	167815260	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:167815260G>T	ENST00000367848.1	-	20	2900	c.2403C>A	c.(2401-2403)caC>caA	p.H801Q	ADCY10_ENST00000545172.1_Missense_Mutation_p.H740Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.H893Q|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	893					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAACGATAGTGCACCTCAA	0.468000													6	89					0.000157383	0.000173738	1	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993645	96993645	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:96993645A>G	ENST00000361124.4	+	1	1711	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.I418V|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.I418V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.I426V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	426						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCCAGATCATTTTAAGTCT	0.552000													12	144					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52380870	52380870	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:52380870A>C	ENST00000182527.3	-	4	344	c.345T>G	c.(343-345)aaT>aaG	p.N115K	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	115	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GTCCAGATTCATTGAACTTGC	0.428000													6	91					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905705	139905705	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:139905705C>G	ENST00000297183.6	+	26	4741	c.4617C>G	c.(4615-4617)ccC>ccG	p.P1539P	ANKHD1_ENST00000360839.2_Silent_p.P1539P|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P1539P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAACTCCCAGCACCAATC	0.413000													36	181					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235520	21235520	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:21235520G>A	ENST00000233242.1	-	26	4347	c.4220C>T	c.(4219-4221)tCt>tTt	p.S1407F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1407					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTTCTCCAGATCCTAACAT	0.333000													9	38					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160061523	160061523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:160061523C>A	ENST00000327245.5	-	12	2065	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	407					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTCTCTTCATCATACAGG	0.493000													25	83					7.92952e-12	1.10028e-11	1	1	0
DHX58	79132	broad.mit.edu	37	17	40262779	40262779	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:40262779C>T	ENST00000251642.3	-	5	745	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	175	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTTTGGAGGCCCCGCCAGTG	0.637000													20	81					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718639	25718639	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:25718639C>G	ENST00000520164.1	-	13	1805	c.1268G>C	c.(1267-1269)gGc>gCc	p.G423A	EBF2_ENST00000535548.1_Missense_Mutation_p.G154A|EBF2_ENST00000408929.3_Missense_Mutation_p.G275A	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	423					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCCCATCATGCCACTGTGCGC	0.517000													22	96					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54939587	54939587	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:54939587G>C	ENST00000284061.3	+	11	1679	c.1499G>C	c.(1498-1500)cGa>cCa	p.R500P		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	500					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AATCCTTTTCGAATAGGACAG	0.398000													8	35					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112775	59112775	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:59112775C>A	ENST00000395153.3	+	4	1470	c.1323C>A	c.(1321-1323)agC>agA	p.S441R	DACT1_ENST00000556859.1_Missense_Mutation_p.S197R|DACT1_ENST00000395151.3_Missense_Mutation_p.S197R|DACT1_ENST00000335867.4_Missense_Mutation_p.S478R|DACT1_ENST00000541264.2_Missense_Mutation_p.S197R	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	478					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTAAGGAAAGCGCTCAGCTCT	0.577000													12	115					0.000978159	0.0010529	1	1	0
LILRB4	11006	broad.mit.edu	37	19	55177857	55177857	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:55177857C>A	ENST00000391736.1	+	11	1273	c.958C>A	c.(958-960)Cca>Aca	p.P320T	LILRB4_ENST00000391734.3_Missense_Mutation_p.P320T|LILRB4_ENST00000430952.2_Missense_Mutation_p.P320T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P320T|LILRB4_ENST00000391733.3_Missense_Mutation_p.P320T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	320						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAGGTCCAGCCCAGCTGCTGA	0.572000													10	51					0.00829132	0.00867976	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47951074	47951074	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:47951074G>A	ENST00000236877.6	-	4	2150	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SLC8A2_ENST00000542837.1_Silent_p.D341D|SLC8A2_ENST00000539381.1_Silent_p.D48D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	585	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACATGGTCTCGTCGTCGCCAA	0.736000													4	17					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996655	19996655	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:19996655C>G	ENST00000391403.2	-	1	1223	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	374						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CGGCATTTTTCCTCTACTATT	0.368000													19	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063255	9063255	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9063255G>T	ENST00000397910.4	-	3	24394	c.24191C>A	c.(24190-24192)tCc>tAc	p.S8064Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8066	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAACTGGAGGTCCCCAC	0.473000													31	40					7.68411e-24	1.20857e-23	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143029589	143029589	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:143029589C>A	ENST00000343257.2	+	11	1331	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	415			A -> V (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAATTCATGGCTGGAGAGGTC	0.468000													13	95					0.00010058	0.000111412	1	1	0
TRIB1	10221	broad.mit.edu	37	8	126445770	126445770	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:126445770C>G	ENST00000311922.3	+	2	1154	c.572C>G	c.(571-573)tCc>tGc	p.S191C	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_Missense_Mutation_p.S25C	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	191	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CAGATTGTCTCCGCCGTCGCC	0.607000													21	142					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205116853	205116853	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:205116853G>A	ENST00000367162.3	-	13	2653	c.2623C>T	c.(2623-2625)Cct>Tct	p.P875S	DSTYK_ENST00000367160.4_Missense_Mutation_p.P534S|DSTYK_ENST00000367161.3_Missense_Mutation_p.P830S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	875	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCAAACACAGGAAGACGTTCT	0.557000													39	88					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47343383	47343383	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:47343383C>A	ENST00000426342.1	-	13	2310	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	MDGA2_ENST00000439988.2_Nonsense_Mutation_p.E751*|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E522*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.E820*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	751	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTACCATCTTCAAATCCACAA	0.244000													10	43					1.76689e-08	2.2232e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9013905	9013905	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9013905C>A	ENST00000397910.4	-	33	38688	c.38485G>T	c.(38485-38487)Ggg>Tgg	p.G12829W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12831				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAGGTCCCAGGAGCTGAA	0.502000													9	20					1.12685e-05	1.30393e-05	1	1	0
FRYL	285527	broad.mit.edu	37	4	48565967	48565967	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:48565967G>T	ENST00000358350.4	-	31	4198	c.3594C>A	c.(3592-3594)aaC>aaA	p.N1198K	FRYL_ENST00000503238.1_Missense_Mutation_p.N1198K|FRYL_ENST00000507711.1_Missense_Mutation_p.N1198K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.N1198K	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1198					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TAAAGTACCTGTTCTGGAAAA	0.423000													22	66					1.64293e-13	2.33983e-13	1	1	0
PRKCB	5579	broad.mit.edu	37	16	23999840	23999840	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:23999840G>T	ENST00000303531.7	+	3	369	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	PRKCB_ENST00000321728.7_Missense_Mutation_p.V73L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	73					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTGCTGCTTTGTGGTGCACAA	0.498000													30	55					8.58068e-18	1.2961e-17	1	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91386623	91386623	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:91386623T>A	ENST00000261991.3	-	7	906	c.733A>T	c.(733-735)Atg>Ttg	p.M245L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M245L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M166L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	245	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTCATACATTAGAACACCC	0.284000													33	137					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739732	102739732	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:102739732G>C	ENST00000210633.3	+	9	1189	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	SEMA4G_ENST00000370250.4_Missense_Mutation_p.E371Q|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E371Q|MRPL43_ENST00000318325.2_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	371	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGGGGTGCCTGAGCCCCGGCC	0.642000													36	183					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47293984	47293984	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:47293984G>T	ENST00000225941.1	+	2	707	c.209G>T	c.(208-210)gGg>gTg	p.G70V	ABI3_ENST00000419580.2_Missense_Mutation_p.G70V	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	70					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AACCTGGCCGGGCACACTCTG	0.672000										HNSCC(55;0.14)			4	15					0.00116845	0.00124943	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120468094	120468094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:120468094G>A	ENST00000256646.2	-	25	4564	c.4345C>T	c.(4345-4347)Cag>Tag	p.Q1449*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1449	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCCCACTGGCAGGCATGG	0.597000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				19	88					0	0	1	0	0
GNG13	51764	broad.mit.edu	37	16	849026	849026	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:849026A>T	ENST00000248150.4	-	2	153	c.52T>A	c.(52-54)Tac>Aac	p.Y18N		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	18					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				GCCAGCTGGTACTTGAGGCTC	0.622000													5	44					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689187	167689187	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:167689187C>A	ENST00000519204.1	+	28	7452	c.7334C>A	c.(7333-7335)cCc>cAc	p.P2445H	TENM2_ENST00000518659.1_Missense_Mutation_p.P2566H|TENM2_ENST00000403607.2_Missense_Mutation_p.P2390H|TENM2_ENST00000520394.1_Missense_Mutation_p.P2327H|TENM2_ENST00000545108.1_Missense_Mutation_p.P2565H					teneurin transmembrane protein 2																		ACCACCACGCCCATCATTGGC	0.557000													3	18					0.115264	0.117439	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179298699	179298699	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:179298699C>G	ENST00000429709.2	+	10	1061	c.848C>G	c.(847-849)cCa>cGa	p.P283R	ACTL6A_ENST00000450518.2_Missense_Mutation_p.P241R|ACTL6A_ENST00000392662.1_Missense_Mutation_p.P241R|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	283					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCACAGATGCCAACTGTTCAT	0.343000													22	144					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716559	105716559	+	Silent	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:105716559G>A	ENST00000463376.2	+	3	1324	c.783G>A	c.(781-783)caG>caA	p.Q261Q	BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.Q261Q|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Silent_p.Q336Q|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000392554.3_Silent_p.Q336Q|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	336						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TCGCCCCGCAGAGGTGCCACC	0.612000													9	58					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374311	163374311	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:163374311G>A	ENST00000332142.5	-	4	920	c.821C>T	c.(820-822)tCt>tTt	p.S274F	KCNH7_ENST00000328032.4_Missense_Mutation_p.S274F|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	274					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGGACCGAAGATGCTCTCCG	0.453000													18	93					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373167	43373167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:43373167G>C	ENST00000244296.2	-	4	866	c.729C>G	c.(727-729)taC>taG	p.Y243*	PSG1_ENST00000312439.6_Nonsense_Mutation_p.Y243*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.Y243*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.Y150*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.Y243*|PSG1_ENST00000403380.3_Nonsense_Mutation_p.Y150*	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGATGGTGATGTAGGGCTTGG	0.458000													72	198					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15833519	15833519	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:15833519C>T	ENST00000546424.1	-	4	749	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	CASP9_ENST00000333868.5_Missense_Mutation_p.V169M|CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Missense_Mutation_p.V86M			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	169					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CAGAAGTTCACATTGTTGATA	0.597000													7	140					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666821	77666821	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:77666821G>T	ENST00000461745.1	+	22	4351	c.3451G>T	c.(3451-3453)Gca>Tca	p.A1151S	ROBO2_ENST00000487694.3_Missense_Mutation_p.A1167S|ROBO2_ENST00000332191.8_Missense_Mutation_p.A1151S|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1151					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGTCCACTGCAACTCTTAC	0.498000													14	81					2.54575e-18	3.88152e-18	1	1	0
LETMD1	25875	broad.mit.edu	37	12	51442837	51442837	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:51442837C>T	ENST00000418425.2	+	2	162	c.143C>T	c.(142-144)tCt>tTt	p.S48F	LETMD1_ENST00000550929.1_5'UTR|LETMD1_ENST00000380123.2_Missense_Mutation_p.S48F|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.S48F|LETMD1_ENST00000262055.4_Missense_Mutation_p.S48F	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	48	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CTTCACCTTTCTCCAAAGGCA	0.453000													10	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088935	9088935	+	Silent	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9088935A>T	ENST00000397910.4	-	1	3083	c.2880T>A	c.(2878-2880)gcT>gcA	p.A960A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	960	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGGGTGCAGCAGAGTCAT	0.473000													43	192					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574837	82574837	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:82574837C>A	ENST00000339465.5	+	3	700	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.L196M	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	211										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CCAGAATGCTCTGTTTGAAGG	0.478000													28	34					1.2476e-16	1.83737e-16	1	1	0
ACP1	52	broad.mit.edu	37	2	277071	277071	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:277071G>C	ENST00000272067.6	+	5	481	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Missense_Mutation_p.E129Q	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	129						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		ACTTATTATTGAAGATCCCTA	0.313000													11	31					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822501	52822501	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:52822501G>T	ENST00000252245.5	-	6	1282	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	354	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCCCATGTCTGCCTGCGGTGA	0.547000													18	57					1.67942e-08	2.11724e-08	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33329481	33329481	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:33329481T>A	ENST00000374796.2	-	12	7149	c.4579A>T	c.(4579-4581)Aaa>Taa	p.K1527*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.K1527*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1527					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.K1527E(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAGATGCTTTTTTGAGGTCC	0.448000													22	40					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714319	150714319	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:150714319C>A	ENST00000605938.1	-	9	2168	c.2093G>T	c.(2092-2094)cGt>cTt	p.R698L	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R698L|ATG9B_ENST00000444312.1_Missense_Mutation_p.R184L	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	698					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCCTCCGCACGCTGAGACAG	0.597000													5	56					1	1	1	1	0
CHPF	79586	broad.mit.edu	37	2	220406452	220406452	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:220406452T>A	ENST00000243776.6	-	2	1022	c.774A>T	c.(772-774)caA>caT	p.Q258H	CHPF_ENST00000535926.1_Missense_Mutation_p.Q96H|CHPF_ENST00000373891.2_Missense_Mutation_p.Q258H	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	258						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGGGCGCAGTTGTTGCAGCA	0.692000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459797	141459797	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:141459797C>T	ENST00000389484.3	-	39	7186	c.6215G>A	c.(6214-6216)gGa>gAa	p.G2072E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2072					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCGATTCCCTCCAGTCTCAAG	0.403000										TSP Lung(27;0.18)			20	140					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16216776	16216776	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:16216776C>A	ENST00000339732.5	+	1	621	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	GALNT15_ENST00000437509.1_Missense_Mutation_p.L40M	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CCACCACACCCTGCACCAGAC	0.592000													24	92					5.35356e-11	7.19731e-11	1	1	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793416	30793416	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:30793416G>T	ENST00000458257.1	+	2	235	c.221G>T	c.(220-222)tGt>tTt	p.C74F	INMT_ENST00000409539.1_Missense_Mutation_p.C74F|INMT_ENST00000013222.5_Missense_Mutation_p.C75F|INMT_ENST00000484180.1_3'UTR																							CTTGCTGCCTGTGATTCCTTC	0.562000													121	377					1.05615e-46	1.73702e-46	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49670205	49670205	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:49670205C>A	ENST00000561648.1	-	4	2911	c.2858G>T	c.(2857-2859)cGg>cTg	p.R953L	ZNF423_ENST00000563137.2_Missense_Mutation_p.R893L|ZNF423_ENST00000567169.1_Missense_Mutation_p.R836L|ZNF423_ENST00000535559.1_Missense_Mutation_p.R836L|ZNF423_ENST00000262383.2_Missense_Mutation_p.R953L|ZNF423_ENST00000562871.1_Missense_Mutation_p.R893L|ZNF423_ENST00000562520.1_Missense_Mutation_p.R893L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	953					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCAGGGCCCCGGTGCGTCTG	0.582000													6	34					0.00116845	0.00124943	1	1	0
LECT1	11061	broad.mit.edu	37	13	53286947	53286947	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:53286947C>G	ENST00000448904.2	-	5	636	c.526G>C	c.(526-528)Gat>Cat	p.D176H	LECT1_ENST00000377962.3_Missense_Mutation_p.D176H	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	176	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ACAGGCTGATCTACAGCCACC	0.413000													14	55					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112439909	112439909	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:112439909G>A	ENST00000302475.4	-	5	1164	c.601C>T	c.(601-603)Cac>Tac	p.H201Y	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.H391Y|MCC_ENST00000515367.2_Missense_Mutation_p.H138Y	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	201					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGGTCACAGTGCTCGCTGGCT	0.547000													12	105					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014951	123014951	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:123014951C>A	ENST00000462833.1	-	17	4255	c.3043G>T	c.(3043-3045)Gac>Tac	p.D1015Y	ADCY5_ENST00000491190.1_Missense_Mutation_p.D673Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.D665Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1015					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGAGGAAGTCGAGGCGGGCA	0.632000													13	60					1.49906e-05	1.71927e-05	1	1	0
TBX4	9496	broad.mit.edu	37	17	59560592	59560592	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:59560592G>T	ENST00000393853.4	+	9	1519	c.1356G>T	c.(1354-1356)atG>atT	p.M452I	TBX4_ENST00000240335.1_Missense_Mutation_p.M451I|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	451					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCACCACCATGATGCCGCGGC	0.602000													18	108					5.03518e-11	6.78337e-11	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85500390	85500390	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:85500390G>T	ENST00000393217.2	+	15	3435	c.3374G>T	c.(3373-3375)tGg>tTg	p.W1125L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1125	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAACAAACTGGAGGTAAAGA	0.343000													26	38					8.24728e-16	1.20366e-15	1	1	0
PGS1	9489	broad.mit.edu	37	17	76395507	76395507	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:76395507C>T	ENST00000262764.6	+	5	616	c.590C>T	c.(589-591)aCg>aTg	p.T197M	PGS1_ENST00000329897.7_Missense_Mutation_p.T62M|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	197					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTCTTTCACACGCCGCACCTC	0.602000													6	88					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630811	187630811	+	Silent	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:187630811G>C	ENST00000441802.2	-	2	380	c.171C>G	c.(169-171)gtC>gtG	p.V57V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	57	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCCATCTTGACAGGATGCC	0.473000										HNSCC(5;0.00058)			5	39					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935820	30935820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:30935820C>T	ENST00000355537.3	+	2	1498	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGCCCAGCCAGCTCTATGG	0.652000													27	51					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954043	218954043	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:218954043G>A	ENST00000374155.3	+	11	2041	c.1631G>A	c.(1630-1632)tGt>tAt	p.C544Y	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.C524Y			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	524							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTGTGGCCTGTAGCAAGATC	0.572000													11	33					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143984	55143984	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:55143984T>A	ENST00000396331.1	+	7	1088	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	LILRB1_ENST00000396315.1_Missense_Mutation_p.L244Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.L244Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.L244Q|LILRB1_ENST00000396332.4_Missense_Mutation_p.L244Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.L244Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.L244Q|LILRB1_ENST00000396321.2_Missense_Mutation_p.L244Q|LILRB1_ENST00000427581.2_Missense_Mutation_p.L280Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.L244Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.L244Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	244	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACCCTGACTCTGCAGTGTGGC	0.567000										HNSCC(37;0.09)			32	106					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221721	153221721	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:153221721G>C	ENST00000310441.7	-	16	3743	c.2777C>G	c.(2776-2778)cCc>cGc	p.P926R	HCFC1_ENST00000354233.3_Missense_Mutation_p.P857R|HCFC1_ENST00000369984.4_Missense_Mutation_p.P926R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	926					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCAGTGGGGTTGATCAC	0.662000													28	58					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963377	96963377	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:96963377C>T	ENST00000323853.5	-	10	1278	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E401K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	401						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATCCTACCTCTCCACCCTGG	0.498000													5	100					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70162977	70162977	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:70162977T>A	ENST00000288050.4	+	6	1516	c.559T>A	c.(559-561)Tct>Act	p.S187T	PDPR_ENST00000568530.1_Missense_Mutation_p.S187T|PDPR_ENST00000398122.3_Missense_Mutation_p.S87T	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	187					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCAGTGGTGTCTTCCGCTGA	0.537000													32	466					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87530165	87530165	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:87530165G>T	ENST00000265728.1	+	10	1400	c.896G>T	c.(895-897)tGc>tTc	p.C299F		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	299					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTGAATGTTGCTTGCAGAAA	0.333000													13	136					0.00185496	0.00197699	1	1	0
UPK3A	7380	broad.mit.edu	37	22	45689110	45689110	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:45689110G>A	ENST00000216211.4	+	5	652	c.620G>A	c.(619-621)gGc>gAc	p.G207D	UPK3A_ENST00000396082.2_Missense_Mutation_p.G86D	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	207					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGGAGCGGAGGCATGATCGTC	0.617000													12	71					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083156	152083156	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:152083156G>T	ENST00000368804.1	-	2	2536	c.2537C>A	c.(2536-2538)gCc>gAc	p.A846D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	846					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTTGGGCACGCTCCCG	0.652000													13	91					9.31168e-06	1.08525e-05	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63488607	63488607	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:63488607G>A	ENST00000374852.3	-	14	1992	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	642						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGCCTCAAAGGTGCACATGTC	0.527000													14	34					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561960	142561960	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:142561960G>T	ENST00000392957.2	+	7	1189	c.402G>T	c.(400-402)caG>caT	p.Q134H	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.Q134H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	134						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTACCGTCAGGCTGAGGAGC	0.617000													51	129					6.18754e-15	8.94984e-15	1	1	0
DCC	1630	broad.mit.edu	37	18	51013185	51013185	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:51013185C>A	ENST00000442544.2	+	26	4371	c.3755C>A	c.(3754-3756)cCg>cAg	p.P1252Q	DCC_ENST00000581580.1_Missense_Mutation_p.P887Q|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1252					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCGCCATCCCGGTGCCAACG	0.502000													19	100					5.03518e-11	6.78337e-11	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126715983	126715983	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:126715983C>G	ENST00000309035.6	-	1	476	c.346G>C	c.(346-348)Gga>Cga	p.G116R	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTAGCAGCTCCAGACGGATCA	0.607000													21	73					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56653517	56653517	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:56653517G>A	ENST00000394672.3	+	16	2667	c.2597G>A	c.(2596-2598)gGg>gAg	p.G866E	CCDC66_ENST00000436465.2_Missense_Mutation_p.G866E|CCDC66_ENST00000326595.7_Missense_Mutation_p.G832E	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	866										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CCATTGTCTGGGCCTTCAACC	0.388000													13	62					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012433	29012433	+	Silent	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:29012433T>A	ENST00000282397.4	-	4	689	c.438A>T	c.(436-438)atA>atT	p.I146I	FLT1_ENST00000539099.1_Silent_p.I146I|FLT1_ENST00000541932.1_Silent_p.I146I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	146					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CAGTCATGTGTATAATTTCGG	0.373000													14	24					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156023	155156023	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:155156023G>T	ENST00000357232.3	-	25	8415	c.8416C>A	c.(8416-8418)Cat>Aat	p.H2806N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2806					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATGCAAATGTTCATCCTTT	0.408000													83	108					9.34078e-37	1.50568e-36	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170667939	170667939	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:170667939G>T	ENST00000523189.1	+	23	2594	c.2430G>T	c.(2428-2430)caG>caT	p.Q810H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	810					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGTAATCAGATCCTGTCCC	0.388000			T	TRD@	ALL								20	102					3.62473e-10	4.75471e-10	1	1	0
CR1	1378	broad.mit.edu	37	1	207669648	207669648	+	Silent	SNP	C	C	T	rs55923813		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:207669648C>T	ENST00000367049.4	+	1	36	c.36C>T	c.(34-36)gtC>gtT	p.V12V	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.V12V|CR1_ENST00000400960.2_Silent_p.V12V|CR1_ENST00000367053.1_Silent_p.V12V|CR1_ENST00000367051.1_Silent_p.V12V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	12					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGGAGCCTGTCGGGCCGCCGG	0.622000													6	92					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902249	247902249	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:247902249C>A	ENST00000283225.2	+	1	333	c.333C>A	c.(331-333)ggC>ggA	p.G111G	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.G111G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CAGAGATTGGCATCCTTACTG	0.552000													11	68					3.07112e-06	3.64484e-06	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115803298	115803298	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:115803298A>T	ENST00000343348.6	-	18	2662	c.1875T>A	c.(1873-1875)caT>caA	p.H625Q	SEMA6A_ENST00000510263.1_Missense_Mutation_p.H625Q|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.H52Q|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Intron|SEMA6A_ENST00000257414.8_Missense_Mutation_p.H642Q|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	625					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTGGTGATTATGGGAAGACA	0.547000													4	22					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924572	70924572	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:70924572C>A	ENST00000603540.1	+	2	614	c.356C>A	c.(355-357)cCt>cAt	p.P119H	ADAM21_ENST00000267499.3_Missense_Mutation_p.P119H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	119					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGCAGCCCCTGAGTCTCTG	0.498000													6	204					1.12685e-05	1.30393e-05	1	1	0
PIN1	5300	broad.mit.edu	37	19	9958744	9958744	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:9958744G>A	ENST00000247970.4	+	3	332	c.310G>A	c.(310-312)Gag>Aag	p.E104K	PIN1_ENST00000588695.1_Missense_Mutation_p.E104K|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Missense_Mutation_p.E104K	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	104	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GGAGGACTTTGAGTCTCTGGC	0.607000											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891801	38891801	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:38891801C>A	ENST00000359357.3	+	71	10428	c.10174C>A	c.(10174-10176)Ctt>Att	p.L3392I	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3609I|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3356I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACGGGATTCCTTTCCTACCT	0.423000													23	53					1.66031e-10	2.1912e-10	1	1	0
LRRC1	55227	broad.mit.edu	37	6	53785559	53785559	+	Splice_Site	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:53785559G>T	ENST00000370888.1	+	13	1693	c.1416_splice	c.e13+1	p.T472_splice	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	472						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACAATGAGACGGTATGGAAAT	0.388000													12	41					4.93089e-13	6.99172e-13	1	1	0
F2RL2	2151	broad.mit.edu	37	5	75919021	75919021	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:75919021A>T	ENST00000296641.4	-	1	238	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	F2RL2_ENST00000504899.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	12					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CAACAGAAGCAGGAGGCCAGC	0.438000													33	113					0	0	1	0	0
MRPL35	51318	broad.mit.edu	37	2	86437737	86437737	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:86437737G>T	ENST00000337109.4	+	4	547	c.513G>T	c.(511-513)tgG>tgT	p.W171C	MRPL35_ENST00000254644.8_Splice_Site|MRPL35_ENST00000409180.1_Splice_Site|MRPL35_ENST00000605125.1_3'UTR	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	171					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGCGAAACTGGTACGTTGATG	0.378000													35	56					4.65686e-17	6.90537e-17	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588624	247588624	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:247588624C>A	ENST00000366497.2	+	4	2659	c.1879C>A	c.(1879-1881)Cag>Aag	p.Q627K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q627K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q627K|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q627K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q627K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q627K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	627					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)			CCAGCCCAGCCAGCTGGAATT	0.468000													14	58					1.3612e-06	1.63344e-06	1	1	0
MRPS18B	28973	broad.mit.edu	37	6	30587585	30587585	+	Splice_Site	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:30587585T>G	ENST00000259873.4	+	3	442		c.e3+2		MRPS18B_ENST00000506373.2_Splice_Site|MRPS18B_ENST00000472229.1_Splice_Site	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						ACATGTATTGTGAGTTTCTGA	0.522000													15	61					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111636510	111636510	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:111636510G>A	ENST00000435970.1	-	29	9008	c.8192C>T	c.(8191-8193)aCt>aTt	p.T2731I	REV3L_ENST00000368802.3_Missense_Mutation_p.T2809I|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Missense_Mutation_p.T2809I|REV3L_ENST00000368805.1_Missense_Mutation_p.T2809I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2809					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTGGTAGCAGTTACAGCTTC	0.348000								DNA polymerases (catalytic subunits)					7	32					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607159	84607159	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:84607159C>A	ENST00000344803.2	+	4	1821	c.1774C>A	c.(1774-1776)Cta>Ata	p.L592I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCGAGCCCTACTACCTAGTCC	0.512000													28	61					4.87955e-14	6.98002e-14	1	1	0
FGF6	2251	broad.mit.edu	37	12	4543514	4543514	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:4543514G>C	ENST00000228837.2	-	3	537	c.494C>G	c.(493-495)cCc>cGc	p.P165R		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	165					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GTAATTGTTGGGCAGGAGGGT	0.522000													23	108					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113122856	113122856	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:113122856G>A	ENST00000393845.2	-	9	1079	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.S338L|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	338										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCTGACCCTGAGAGCACCTG	0.423000													30	150					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662000													18	155					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964973	39964973	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:39964973C>T	ENST00000599117.1	+	28	3118	c.2751C>T	c.(2749-2751)agC>agT	p.S917S	SUPT5H_ENST00000402194.2_Silent_p.S913S|SUPT5H_ENST00000598725.1_Silent_p.S917S|SUPT5H_ENST00000432763.2_Silent_p.S917S|SUPT5H_ENST00000359191.6_Silent_p.S913S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	917	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGCCAAGCCCAGCAGGCT	0.632000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	61					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148539142	148539142	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:148539142A>T	ENST00000296582.3	+	1	609	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.Q12L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	12						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AACTGGAGACAGTGGATTCGA	0.488000											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	151					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866022	23866022	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:23866022G>T	ENST00000405093.3	-	19	2243	c.2173C>A	c.(2173-2175)Cgc>Agc	p.R725S	MYH6_ENST00000356287.3_Missense_Mutation_p.R725S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCAGGATGCGATACCTGAGG	0.547000													9	38					0.000274275	0.000299209	1	1	0
CRYGD	1421	broad.mit.edu	37	2	208986409	208986409	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:208986409T>C	ENST00000264376.4	-	3	540	c.513A>G	c.(511-513)atA>atG	p.I171M		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	171	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGGAGAAATCTATGACTCTCC	0.463000													7	61					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818380	200818380	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:200818380G>T	ENST00000358823.2	+	11	2753	c.2483G>T	c.(2482-2484)gGa>gTa	p.G828V	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.G839V|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G812V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	839						cytoplasm|microtubule	protein binding										AAAACTGATGGACAAAGGAGC	0.448000													126	114					2.18104e-75	3.6054e-75	1	1	0
AADAC	13	broad.mit.edu	37	3	151535367	151535367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:151535367G>T	ENST00000232892.6	+	2	478	c.352G>T	c.(352-354)Gga>Tga	p.G118*	AADAC_ENST00000488869.1_Nonsense_Mutation_p.G118*|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	118					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGGTGCGTGGGAAGTGCTGG	0.443000													24	95					1.85244e-09	2.39597e-09	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134715514	134715514	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:134715514C>G	ENST00000370752.4	+	17	2873	c.2539C>G	c.(2539-2541)Cac>Gac	p.H847D	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	847										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATTCCCACCACCTTCACAA	0.348000													16	61					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073351	17073351	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:17073351C>T	ENST00000359963.3	-	1	349	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	30					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGGTGGGGCTCCTCCTCTT	0.657000													18	82					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108635216	108635216	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:108635216G>T	ENST00000218006.2	-	14	2996	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	902	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GACCTCAATGGGCTCACTCAT	0.448000													21	50					4.96729e-08	6.21391e-08	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771312	157771312	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:157771312G>T	ENST00000368176.3	-	6	1009	c.942C>A	c.(940-942)ctC>ctA	p.L314L	FCRL1_ENST00000491942.1_Silent_p.L314L|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	314						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAAGGGTGCTGAGCAGCCCCT	0.488000													77	57					3.1711e-36	5.09893e-36	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73068350	73068350	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:73068350G>T	ENST00000263674.3	+	9	4415	c.4065G>T	c.(4063-4065)ctG>ctT	p.L1355L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1355					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTGCCGCTGGAAGACGCAG	0.597000													9	20					0.000274275	0.000299209	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48627690	48627690	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:48627690C>G	ENST00000328333.8	-	15	2113	c.2006G>C	c.(2005-2007)cGa>cCa	p.R669P	COL7A1_ENST00000454817.1_Missense_Mutation_p.R669P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	669	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTCTGCCTCGCAGTACCGA	0.647000													8	25					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577137	33577137	+	Silent	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:33577137A>G	ENST00000504830.1	-	19	3329	c.2994T>C	c.(2992-2994)tcT>tcC	p.S998S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.S913S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	998	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCTCCGGCTAGAAGGGCATT	0.517000										HNSCC(64;0.19)			40	352					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85573145	85573145	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:85573145A>G	ENST00000295802.4	-	6	1182	c.1070T>C	c.(1069-1071)tTc>tCc	p.F357S	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.F296S|RETSAT_ENST00000263854.6_Missense_Mutation_p.F357S	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	357					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGGTGTTGAACAGTCCTGC	0.582000													31	155					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98325170	98325170	+	Silent	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:98325170T>A	ENST00000371142.4	-	3	528	c.312A>T	c.(310-312)ccA>ccT	p.P104P		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	104						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AGTAAGTGGCTGGCATCACAT	0.299000													19	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451844	179451844	+	Splice_Site	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:179451844C>G	ENST00000589042.1	-	307	64318		c.e307+1		TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			ATAATACTTACTTAGAGGATC	0.408000													38	227					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976477	67976477	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:67976477C>G	ENST00000264005.5	-	5	566	c.537G>C	c.(535-537)gaG>gaC	p.E179D		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	179					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCGGTAGTACTCCTCCTGCT	0.652000													8	82					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988907	31988907	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:31988907C>G	ENST00000334664.2	+	1	158	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	45						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TACTGCCCATCTTGCTATGGA	0.468000													10	91					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61836183	61836183	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:61836183T>A	ENST00000280772.1	-	37	4647	c.4456A>T	c.(4456-4458)Aga>Tga	p.R1486*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1486					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGAGGGATCTTGTTGCTCCT	0.418000													7	28					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103092821	103092821	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:103092821A>T	ENST00000375735.2	+	58	9314	c.9170A>T	c.(9169-9171)aAg>aTg	p.K3057M	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3057M|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3057	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATATTTCAAAGGAAATAAGA	0.289000													12	20					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777859	237777859	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:237777859G>A	ENST00000366574.2	+	37	5748	c.5431G>A	c.(5431-5433)Gga>Aga	p.G1811R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1809R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1795R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1811	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGACCCAGTTGGAGGGACTAC	0.483000													30	166					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306464	109306464	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:109306464G>T	ENST00000299134.5	-	14	1297	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CAGCCAGGAGGCAGCAGCCAC	0.607000													15	51					3.27435e-08	4.10402e-08	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72851159	72851159	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:72851159G>T	ENST00000293190.5	-	2	219	c.73C>A	c.(73-75)Cag>Aag	p.Q25K	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q25K	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	25					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGCTCGCCCTGCCCCGGACCC	0.716000													4	24					0.000602214	0.000652567	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127782595	127782595	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:127782595C>T	ENST00000368679.4	-	11	1422	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	ADAM12_ENST00000368676.4_Missense_Mutation_p.M371I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	371	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCTCAACCGCCATTTGACAGC	0.542000													26	98					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680938	30680938	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:30680938G>A	ENST00000356166.6	+	18	4003	c.2915G>A	c.(2914-2916)gGc>gAc	p.G972D	FBRS_ENST00000287468.5_Missense_Mutation_p.G452D|FBRS_ENST00000568722.1_Missense_Mutation_p.G364D|FBRS_ENST00000395073.2_Intron			Q9HAH7	FBRS_HUMAN	fibrosin	452										ovary(1)	1			Colorectal(24;0.103)			CCACCTAGGGGCCCTGGCCCA	0.677000													7	218					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817644	101817644	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:101817644C>A	ENST00000375001.3	+	34	3605	c.3182C>A	c.(3181-3183)cCa>cAa	p.P1061Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1061	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCGGAAATCCAGGCCCGGCT	0.537000													14	25					1.52009e-12	2.1367e-12	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53432303	53432303	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:53432303G>C	ENST00000549216.1	-	2	418	c.348C>G	c.(346-348)atC>atG	p.I116M	ZNF321P_ENST00000391777.3_Missense_Mutation_p.I185M|ZNF816_ENST00000434371.2_Missense_Mutation_p.I185M|ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGGAGGCATTGATGATAGACT	0.378000													6	141					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:61233928G>A	ENST00000382768.1	+	7	962	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301Q			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448000													39	150					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58506772	58506772	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:58506772G>A	ENST00000269127.4	+	5	563	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	160										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CTGGCCGACCGGGAAGACAGT	0.617000													19	75					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045223	204045223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:204045223G>T	ENST00000449802.1	+	42	6829	c.6496G>T	c.(6496-6498)Gaa>Taa	p.E2166*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2166	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGTTTTTGGAAAATCAAAA	0.353000													13	27					0.0135373	0.0140355	1	1	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:7577538C>A	ENST00000420246.2	-	7	875	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			26	46					3.65163e-15	5.3055e-15	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111993742	111993742	+	Splice_Site	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:111993742A>T	ENST00000305815.5	-	6	866		c.e6+1		SLC9C1_ENST00000487372.1_Splice_Site	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1						cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATATACTTACCTAAGGTAT	0.279000													8	38					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105623795	105623795	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:105623795C>A	ENST00000393127.2	+	4	782	c.336C>A	c.(334-336)gcC>gcA	p.A112A	GRIA4_ENST00000530497.1_Silent_p.A112A|GRIA4_ENST00000282499.5_Silent_p.A112A|GRIA4_ENST00000428631.2_Silent_p.A112A|GRIA4_ENST00000393125.2_Silent_p.A112A|GRIA4_ENST00000525187.1_Silent_p.A112A	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCTGCAGCGCCTTACATATCT	0.468000													21	43					3.51602e-12	4.89974e-12	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815580	179815580	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:179815580C>A	ENST00000367612.3	-	6	1426	c.1039G>T	c.(1039-1041)Gtt>Ttt	p.V347F		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	347						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCCAGGTCAACCAACAGCTTG	0.527000													43	87					1.48734e-19	2.30022e-19	1	1	0
OSBPL11	114885	broad.mit.edu	37	3	125271280	125271280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:125271280C>A	ENST00000296220.5	-	9	1688	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	467					lipid transport		lipid binding	p.E467K(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GATGCTACCTCGCTTTTTGGC	0.453000													17	60					1.15088e-07	1.42594e-07	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24906463	24906463	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:24906463C>G	ENST00000251343.5	+	8	2148	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	KHNYN_ENST00000556842.1_Missense_Mutation_p.S670C|KHNYN_ENST00000553935.1_Missense_Mutation_p.S670C|KHNYN_ENST00000554268.1_Missense_Mutation_p.S115C			O15037	KHNYN_HUMAN	KH and NYN domain containing	670										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AACCAACTGTCTGAGGCCCTG	0.602000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	95					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101544463	101544463	+	Silent	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:101544463C>A	ENST00000370449.4	+	2	245	c.132C>A	c.(130-132)gcC>gcA	p.A44A	ABCC2_ENST00000370434.1_Silent_p.A44A	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	44						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCTCCTGGCCCCCTGGCAGC	0.498000													32	101					8.16721e-17	1.2083e-16	1	1	0
RFWD2	64326	broad.mit.edu	37	1	175916343	175916343	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:175916343C>A	ENST00000367669.3	-	19	2680	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q698H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	722					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAATTGTACCCTGACTGTTAG	0.363000													7	187					3.09899e-07	3.7747e-07	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198697542	198697542	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:198697542C>G	ENST00000367376.2	+	16	1959	c.1788C>G	c.(1786-1788)ctC>ctG	p.L596L	PTPRC_ENST00000594404.1_Silent_p.L435L|PTPRC_ENST00000348564.6_Silent_p.L437L|PTPRC_ENST00000352140.3_Silent_p.L548L|PTPRC_ENST00000442510.2_Silent_p.L598L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	596					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTTGTTCTCTACAAAATCT	0.299000													20	155					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	3988877	3988877	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:3988877G>A	ENST00000300737.4	+	2	804	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	STIM1_ENST00000527651.1_Missense_Mutation_p.A79T	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	79	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGACGATGATGCCAATGGTGA	0.468000													19	44					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176301267	176301267	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:176301267A>T	ENST00000329542.4	+	8	1352	c.1078A>T	c.(1078-1080)Aac>Tac	p.N360Y	UNC5A_ENST00000261961.3_Missense_Mutation_p.N320Y	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	360					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGCAGACAACCCCCATCT	0.657000													25	92					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681465	55681465	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:55681465C>T	ENST00000344514.1	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGTGAATAACACTAACTCAT	0.383000													16	61					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55040038	55040038	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:55040038A>T	ENST00000330807.5	-	10	1618	c.1481T>A	c.(1480-1482)cTc>cAc	p.L494H	ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.L481H|ALAS2_ENST00000335854.4_Missense_Mutation_p.L457H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	494					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATGCTTGGAGAGCAGGAGATC	0.587000													20	27					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242063447	242063447	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:242063447C>A	ENST00000403638.3	-	11	2912	c.2821G>T	c.(2821-2823)Gcc>Tcc	p.A941S	PASK_ENST00000234040.4_Missense_Mutation_p.A941S|PASK_ENST00000358649.4_Missense_Mutation_p.A941S|PASK_ENST00000544142.1_Missense_Mutation_p.A755S|PASK_ENST00000405260.1_Missense_Mutation_p.A941S|PASK_ENST00000539818.1_Missense_Mutation_p.A725S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	941					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGTCCTGGCGGCTGAGTCG	0.627000													20	54					5.35267e-07	6.48323e-07	1	1	0
RLTPR	146206	broad.mit.edu	37	16	67686183	67686183	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:67686183G>A	ENST00000334583.6	+	27	3086	c.2758G>A	c.(2758-2760)Gag>Aag	p.E920K	RLTPR_ENST00000545661.1_Missense_Mutation_p.E884K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	920	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCCTCCTTGAGCCTGGGGA	0.567000													19	79					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27141754	27141754	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:27141754G>T	ENST00000222718.5	-	1	676	c.366C>A	c.(364-366)acC>acA	p.T122T		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	122						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGCAGGGCcggtggctgcgg	0.687000													12	10					5.50884e-06	6.44355e-06	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121929770	121929770	+	Silent	SNP	A	A	T	rs143647039		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:121929770A>T	ENST00000265922.3	-	8	2339	c.1878T>A	c.(1876-1878)ccT>ccA	p.P626P	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		626					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCAGTAGGGTAGGTAGCCGAG	0.532000													34	165					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75687134	75687134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr15:75687134C>A	ENST00000394947.3	-	14	2478	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	SIN3A_ENST00000394949.4_Nonsense_Mutation_p.E722*|SIN3A_ENST00000360439.4_Nonsense_Mutation_p.E722*	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	722	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAGTATTTCTCATTTTGTTCT	0.438000													39	139					2.45108e-15	3.56921e-15	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121558076	121558076	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:121558076A>G	ENST00000361976.2	+	9	1236	c.1070A>G	c.(1069-1071)tAt>tGt	p.Y357C	INPP5F_ENST00000369083.3_Missense_Mutation_p.Y357C	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	357	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACTGTTGCCTATTTCTGTGCC	0.323000													20	56					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271909	1271909	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:1271909G>A	ENST00000447027.1	+	31	13866	c.13808G>A	c.(13807-13809)gGc>gAc	p.G4603D	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4600D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4600	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACCACGGGCTTCACAGCC	0.652000													13	49					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98156954	98156954	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:98156954G>T	ENST00000357947.3	-	11	1598	c.1373C>A	c.(1372-1374)gCa>gAa	p.A458E	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	458	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCGTACGCTGCAAAGAAGCC	0.607000													10	64					9.70103e-10	1.25977e-09	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78477731	78477731	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr13:78477731C>T	ENST00000377211.4	-	3	917	c.765G>A	c.(763-765)gaG>gaA	p.E255E	EDNRB_ENST00000334286.5_Silent_p.E165E|EDNRB_ENST00000446573.1_Silent_p.E165E	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGGCCAGTCCTCTGCCAGCA	0.463000													18	47					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196134259	196134259	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:196134259T>A	ENST00000296328.4	-	2	153	c.79A>T	c.(79-81)Agt>Tgt	p.S27C	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	27							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACACTTTCACTTGCACCTGAA	0.363000													6	87					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301711	18301711	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr22:18301711G>A	ENST00000441493.2	-	26	4068	c.3716C>T	c.(3715-3717)cCa>cTa	p.P1239L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1239	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGGGCTCCCTGGTGAGACAGG	0.667000													8	27					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120457930	120457930	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:120457930C>T	ENST00000256646.2	-	34	7634	c.7415G>A	c.(7414-7416)tGa>tAa	p.*2472*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	0					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGACTCTCTCACGCATAAAC	0.527000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				33	83					0	0	1	0	0
C3orf33	285315	broad.mit.edu	37	3	155481514	155481514	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:155481514A>G	ENST00000534941.1	-	6	817	c.548T>C	c.(547-549)tTa>tCa	p.L183S	C3orf33_ENST00000340171.2_Missense_Mutation_p.L226S	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	183							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAATTTTTCTAAGTAACTTTC	0.308000													11	24					0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19218729	19218729	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:19218729A>T	ENST00000265807.3	+	6	1021	c.610A>T	c.(610-612)Aag>Tag	p.K204*	SH2D4A_ENST00000518040.1_Nonsense_Mutation_p.K159*|SH2D4A_ENST00000519207.1_Nonsense_Mutation_p.K204*	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	204						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGAATCTATGAAGAAAAAACA	0.333000													4	23					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125455891	125455891	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:125455891A>T	ENST00000308736.2	-	8	1246	c.1148T>A	c.(1147-1149)aTc>aAc	p.I383N	DHX37_ENST00000544745.1_Missense_Mutation_p.I170N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	383	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCGATGAGGATGTCCGTGTA	0.677000													6	29					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689918	21689918	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr20:21689918C>A	ENST00000398485.2	+	4	1172	c.1118C>A	c.(1117-1119)tCc>tAc	p.S373Y	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.S349Y	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	373					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCCGGCCTCCAACCAGCAC	0.741000													17	110					4.35082e-09	5.59391e-09	1	1	0
FAM120A	23196	broad.mit.edu	37	9	96320933	96320933	+	Silent	SNP	G	G	T	rs143854081		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:96320933G>T	ENST00000277165.6	+	15	2933	c.2739G>T	c.(2737-2739)gcG>gcT	p.A913A	FAM120A_ENST00000333936.5_Silent_p.A941A|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	913	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCGTGTGGCGGCAGCATCGG	0.622000													17	73					2.48551e-13	3.53203e-13	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56443458	56443458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:56443458C>A	ENST00000588751.1	-	1	244	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.E74*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	74	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGGAAGTGTTCATCCAAAAGA	0.532000													18	88					9.16793e-09	1.16945e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113308163	113308163	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:113308163G>T	ENST00000297405.5	-	54	8757	c.8513C>A	c.(8512-8514)aCa>aAa	p.T2838K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2768K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2669K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2798K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2838	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATACAACTGTGTCTCTATA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	37					1.08611e-07	1.34827e-07	1	1	0
NAT10	55226	broad.mit.edu	37	11	34149090	34149090	+	Silent	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:34149090C>G	ENST00000257829.3	+	12	1394	c.1188C>G	c.(1186-1188)ccC>ccG	p.P396P	NAT10_ENST00000531159.2_Silent_p.P324P|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	396						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TCCCCCTCCCCTTGGTGAAGA	0.522000													31	141					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79437101	79437101	+	Silent	SNP	T	T	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:79437101T>C	ENST00000264895.6	+	66	10763	c.10323T>C	c.(10321-10323)ttT>ttC	p.F3441F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3436					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGACCTTTGATGCTTATT	0.562000													13	27					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76249912	76249912	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:76249912G>T	ENST00000274368.4	+	3	656	c.234G>T	c.(232-234)caG>caT	p.Q78H	CRHBP_ENST00000506501.1_Missense_Mutation_p.Q78H	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	78					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ACCGGCCGCAGCTGCACTGCG	0.642000													15	74					9.16793e-09	1.16945e-08	1	1	0
UBXN7	26043	broad.mit.edu	37	3	196134245	196134245	+	Silent	SNP	T	T	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:196134245T>G	ENST00000296328.4	-	2	167	c.93A>C	c.(91-93)ggA>ggC	p.G31G	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	31							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCATATGTTTTCCTACACTTT	0.378000													14	104					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70444005	70444005	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:70444005C>G	ENST00000416149.2	-	8	619	c.596G>C	c.(595-597)gGa>gCa	p.G199A	TIA1_ENST00000433529.2_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000482876.1_Intron|TIA1_ENST00000282574.4_Intron|TIA1_ENST00000445587.1_Intron|C2orf42_ENST00000470096.1_Intron			P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	301					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CTTTTCTTCTCCAATACACCT	0.428000													12	332					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324871	31324871	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr18:31324871C>A	ENST00000269197.5	+	12	5059	c.5059C>A	c.(5059-5061)Cct>Act	p.P1687T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAAGACTTCCCTGGCCCTGA	0.488000													25	75					1.2476e-16	1.83737e-16	1	1	0
OR4D9	390199	broad.mit.edu	37	11	59282900	59282900	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr11:59282900A>C	ENST00000329328.3	+	1	515	c.515A>C	c.(514-516)aAt>aCt	p.N172T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGTGGACCCAATGTTCTTGAC	0.527000													21	93					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24888729	24888729	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:24888729C>G	ENST00000405141.1	+	7	912	c.201C>G	c.(199-201)tgC>tgG	p.C67W	NCOA1_ENST00000406961.1_Missense_Mutation_p.C67W|NCOA1_ENST00000395856.3_Missense_Mutation_p.C67W|NCOA1_ENST00000348332.3_Missense_Mutation_p.C67W|NCOA1_ENST00000288599.5_Missense_Mutation_p.C67W|NCOA1_ENST00000538539.1_Missense_Mutation_p.C67W|NCOA1_ENST00000407230.1_Intron			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	67	Helix-loop-helix motif.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACAAATGCAAGATTTTGA	0.368000			T	PAX3	alveolar rhadomyosarcoma								20	112					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231856	40231856	+	Silent	SNP	C	C	A	rs145932242	byFrequency	TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:40231856C>A	ENST00000302541.6	+	10	1909	c.1567C>A	c.(1567-1569)Cgg>Agg	p.R523R	MYRIP_ENST00000396217.3_Silent_p.R434R|MYRIP_ENST00000444716.1_Silent_p.R523R|MYRIP_ENST00000539167.1_Silent_p.R336R|MYRIP_ENST00000425621.1_Silent_p.R523R|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	523	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CACAGACCGGCGGGCCAGGAG	0.637000													20	66					9.7654e-05	0.000108728	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724090	7724090	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:7724090G>T	ENST00000303635.7	+	9	1690	c.1483G>T	c.(1483-1485)Ggc>Tgc	p.G495C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G495C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.G495S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCAAAGCAGGGCCAGACGTA	0.597000			T	WWTR1	epitheliod hemangioendothelioma								41	93					1.00001e-27	1.58825e-27	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5209325	5209325	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:5209325A>T	ENST00000274181.7	+	10	1709	c.1571A>T	c.(1570-1572)gAg>gTg	p.E524V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E524V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	524	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGTTCGGAGAGAAAGCCAAG	0.413000													24	185					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226524	152226524	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chrX:152226524C>G	ENST00000447306.1	+	2	1448	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	PNMA3_ENST00000370264.4_Missense_Mutation_p.S371C|PNMA3_ENST00000370265.4_Missense_Mutation_p.S371C	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	371					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGCCTCTGGCAACAGT	0.642000													10	38					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13417890	13417890	+	Silent	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:13417890C>T	ENST00000254508.5	-	10	1276	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	398					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACGAGAGCACCTCGAAGAACT	0.562000													15	81					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221665	56221665	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:56221665C>T	ENST00000357606.3	-	3	1067	c.778G>A	c.(778-780)Gta>Ata	p.V260I	DNAJC14_ENST00000317287.5_Missense_Mutation_p.V260I|DNAJC14_ENST00000317269.3_Missense_Mutation_p.V260I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	260					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCCACCAATACCAGCAGTTCA	0.502000													10	50					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219754887	219754887	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:219754887G>T	ENST00000258411.3	+	3	1191	c.558G>T	c.(556-558)aaG>aaT	p.K186N		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	186					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.K186N(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTGGTAAGGGCCTGAGCC	0.672000													8	56					1.06961e-07	1.33034e-07	1	1	0
NPAS2	4862	broad.mit.edu	37	2	101581359	101581359	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:101581359A>C	ENST00000335681.5	+	9	1039	c.754A>C	c.(754-756)Act>Cct	p.T252P	NPAS2_ENST00000542504.1_Missense_Mutation_p.T317P	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	252	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAATTCACTTCAAGGCA	0.393000													14	57					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768461	31768461	+	Silent	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:31768461G>T	ENST00000240587.4	-	2	2565	c.2238C>A	c.(2236-2238)ccC>ccA	p.P746P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	746					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCATGCTCATGGGGTCCAGGG	0.617000													34	94					8.88839e-20	1.37791e-19	1	1	0
SLC18A2	6571	broad.mit.edu	37	10	119015169	119015169	+	Splice_Site	SNP	G	G	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr10:119015169G>T	ENST00000298472.5	+	9	1038		c.e9+1		SLC18A2_ENST00000497497.1_Splice_Site	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATTGCTGCAGGTGGGGCTCTG	0.577000													5	23					0.00307968	0.00326084	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87692397	87692397	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:87692397A>C	ENST00000436978.1	+	31	5372	c.4892A>C	c.(4891-4893)cAa>cCa	p.Q1631P	PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1435P|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1631P|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1607P|PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1626P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1626						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGTGTGGAGCAAAGCACCAGC	0.443000													4	23					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12321023	12321023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:12321023delT	ENST00000358136.3	+	12	1361	c.1231delT	c.(1231-1233)ttfs	p.F411fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.F411fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	411					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCCTCAGTTTGATTCTCC	0.547													28	122	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.4	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)cgg>c	p.LALR31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													5	9	---	---	---	---					
OR10K1	391109	broad.mit.edu	37	1	158435468	158435468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:158435468delG	ENST00000289451.2	+	1	197	c.117delG	c.(115-117)ctfs	p.L39fs		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGTTCACTCTGGGCACCAATG	0.512													121	113	---	---	---	---					
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	RNA	DEL	T	T	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:160905975delT	ENST00000356006.3	+	0	629																											cttcttcttcttttttttttt	0.393													3	4	---	---	---	---					
SMYD3	64754	broad.mit.edu	37	1	246078839	246078839	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr1:246078839delT	ENST00000490107.1	-	8	845	c.629delA	c.(628-630)cgfs	p.Q210fs	SMYD3_ENST00000388985.4_Frame_Shift_Del_p.Q269fs|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.Q210fs	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	269	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TACCTTGTCCTGGGTTTGGCA	0.468													39	104	---	---	---	---					
SPTBN1	6711	broad.mit.edu	37	2	54895572	54895576	+	Frame_Shift_Del	DEL	CCAGC	CCAGC	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:54895572_54895576delCCAGC	ENST00000356805.4	+	36	7242_7246	c.6961_6965delCCAGC	c.(6961-6966)afs	p.PA2321fs		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2321					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCAGAGCACGCCAGCATCCAGCCGC	0.580													8	88	---	---	---	---					
SP5	389058	broad.mit.edu	37	2	171572855	171572855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:171572855delG	ENST00000375281.3	+	2	300	c.138delG	c.(136-138)ccfs	p.P46fs	SP5_ENST00000487037.1_3'UTR	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TCGGCCAgccgggcgcggcgg	0.756													13	65	---	---	---	---					
ITGA6	3655	broad.mit.edu	37	2	173341165	173341165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr2:173341165delG	ENST00000375221.2	+	10	1632	c.1429delG	c.(1429-1431)gafs	p.G477fs	ITGA6_ENST00000343713.4_Frame_Shift_Del_p.G433fs|ITGA6_ENST00000409080.1_Frame_Shift_Del_p.G438fs|ITGA6_ENST00000264106.6_Frame_Shift_Del_p.G477fs|ITGA6_ENST00000409532.1_Frame_Shift_Del_p.G319fs|ITGA6_ENST00000264107.7_Frame_Shift_Del_p.G438fs			P23229	ITA6_HUMAN	integrin, alpha 6	477					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTCAATTGCTGGAAACATGGA	0.388													11	95	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													9	167	---	---	---	---					
SULT1B1	27284	broad.mit.edu	37	4	70620405	70620405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr4:70620405delG	ENST00000310613.2	-	3	557	c.260delC	c.(259-261)ctfs	p.P87fs		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	87					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.P87H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTTAATCCAGGGAGAGTCAT	0.299													31	82	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33624396	33624396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:33624396delG	ENST00000504830.1	-	14	2418	c.2083delC	c.(2083-2085)tgfs	p.L695fs	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCATCTCCCAGGCACACACCG	0.507										HNSCC(64;0.19)			14	102	---	---	---	---					
NNT	23530	broad.mit.edu	37	5	43628435	43628436	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:43628435_43628436delTT	ENST00000264663.5	+	7	1131_1132	c.910_911delTT	c.(910-912)tfs	p.F304fs	NNT_ENST00000344920.4_Frame_Shift_Del_p.F304fs|NNT_ENST00000512996.2_Frame_Shift_Del_p.F173fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	304					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AATGAAACTCTTTGCTCAACAA	0.411													24	224	---	---	---	---					
ACOT12	134526	broad.mit.edu	37	5	80638514	80638514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr5:80638514delC	ENST00000307624.3	-	11	1133	c.1105delG	c.(1105-1107)agfs	p.E369fs	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	369	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTGGTAACCTCCCAACCCCTT	0.448													37	114	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													7	38	---	---	---	---					
NT5DC1	221294	broad.mit.edu	37	6	116427440	116427440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:116427440delA	ENST00000319550.4	+	2	209	c.127delA	c.(127-129)agfs	p.K43fs		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	43							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GTTCCTAGTTAAGGAGAAAGG	0.348													15	58	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151089793	151089793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr6:151089793delG	ENST00000367328.1	+	4	743	c.431delG	c.(430-432)agfs	p.R144fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.R144fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	144	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GACTGCATCAGGGACCAAACA	0.408													8	43	---	---	---	---					
MACC1	346389	broad.mit.edu	37	7	20199089	20199089	+	Frame_Shift_Del	DEL	C	C	-	rs147317429		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr7:20199089delC	ENST00000400331.5	-	5	1203	c.895delG	c.(895-897)atfs	p.D299fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.D299fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.D299fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	299					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.D299N(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGAAAGGATCCTTTCTTACT	0.418													15	63	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													4	7	---	---	---	---					
TMEM246	84302	broad.mit.edu	37	9	104238474	104238474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:104238474delT	ENST00000374851.1	-	4	2048	c.901delA	c.(901-903)gcfs	p.S301fs	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Frame_Shift_Del_p.S301fs|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Frame_Shift_Del_p.S301fs|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	301						integral to membrane											AGACCCATGCTATACAGGGAG	0.557													82	127	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													9	85	---	---	---	---					
METTL25	84190	broad.mit.edu	37	12	82871095	82871095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:82871095delG	ENST00000248306.3	+	11	1752	c.1683delG	c.(1681-1683)ttfs	p.L561fs		NM_032230.2	NP_115606.2			methyltransferase like 25																		TAGAGACTTTGATTCTTCTGG	0.299													20	90	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100431438	100431440	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr12:100431438_100431440delATG	ENST00000279907.7	-	21	4581_4583	c.4369_4371delCAT	c.(4369-4371)del	p.H1457del	UHRF1BP1L_ENST00000545232.2_In_Frame_Del_p.H1107del	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1457										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTTCTTTATATGATGAAGAAGA	0.374													17	84	---	---	---	---					
C14orf39	317761	broad.mit.edu	37	14	60951657	60951658	+	Splice_Site	DEL	TA	TA	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:60951657_60951658delTA	ENST00000321731.3	-	3	209		c.e3-2			NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39											breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACTGGAAGACTAAAATAAATAA	0.262													11	31	---	---	---	---					
FLRT2	23768	broad.mit.edu	37	14	86087880	86087880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr14:86087880delT	ENST00000330753.4	+	2	789	c.22delT	c.(22-24)ggfs	p.W8fs	FLRT2_ENST00000554746.1_Frame_Shift_Del_p.W8fs	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	8					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GACCACAAAGTGGCCCAGCCA	0.443													15	77	---	---	---	---					
ARMC5	79798	broad.mit.edu	37	16	31475762	31475762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr16:31475762delC	ENST00000457010.2	+	4	2119	c.1418delC	c.(1417-1419)tcfs	p.S473fs	ARMC5_ENST00000538189.1_Frame_Shift_Del_p.S505fs|ARMC5_ENST00000408912.3_Frame_Shift_Del_p.S568fs|ARMC5_ENST00000563544.1_Frame_Shift_Del_p.S473fs|ARMC5_ENST00000412665.2_Frame_Shift_Del_p.S117fs|ARMC5_ENST00000268314.4_Frame_Shift_Del_p.S473fs	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	473							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GATGACATCTCCCCCGACTGG	0.677													10	84	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													5	9	---	---	---	---					
INTS2	57508	broad.mit.edu	37	17	59958393	59958394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:59958393_59958394insT	ENST00000444766.3	-	17	2327_2328	c.2252_2253insA	c.(2251-2253)acafs	p.T751fs	INTS2_ENST00000251334.6_Frame_Shift_Ins_p.T743fs	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	751					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGGGAGAATGATTTTTAGCATT	0.376													22	115	---	---	---	---					
MGAT5B	146664	broad.mit.edu	37	17	74869014	74869014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr17:74869014delG	ENST00000569840.2	+	2	724	c.150delG	c.(148-150)ctfs	p.L50fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.L50fs|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.L61fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.L50fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	50						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGGCGCCTGGGGGACTCGC	0.602													34	82	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45774834	45774834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:45774834delC	ENST00000300843.4	+	8	951	c.654delC	c.(652-654)agfs	p.S218fs	MARK4_ENST00000262891.4_Frame_Shift_Del_p.S218fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	218	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTGCGGGAGCCCCCCATATG	0.597													28	106	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													10	144	---	---	---	---					
CLDN14	23562	broad.mit.edu	37	21	37833438	37833457	+	Frame_Shift_Del	DEL	GGCAGGACAGGCAAAGCAGG	GGCAGGACAGGCAAAGCAGG	-			TCGA-86-8673-01A-11D-2393-08	TCGA-86-8673-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e7abafe-f12a-492a-8854-8b55340fe37c	3f4a039a-338c-46d7-a465-e66dc4818841	g.chr21:37833438_37833457delGGCAGGACAGGCAAAGCAGG	ENST00000399137.1	-	3	1403_1422	c.537_556delCCTGCTTTGCCTGTCCTGCC	c.(535-558)acagfs	p.TLLCLSCQ179fs	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Frame_Shift_Del_p.TLLCLSCQ179fs|CLDN14_ENST00000399136.1_Frame_Shift_Del_p.TLLCLSCQ179fs|CLDN14_ENST00000399139.1_Frame_Shift_Del_p.TLLCLSCQ179fs|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Frame_Shift_Del_p.TLLCLSCQ179fs	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	179					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GCCTCGTCCTGGCAGGACAGGCAAAGCAGGGTGCCACCAA	0.627													9	85	---	---	---	---