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
SSX5	6758	broad.mit.edu	37	X	48053613	48053613	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:48053613C>A	ENST00000311798.1	-	5	407	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	SSX5_ENST00000347757.1_Missense_Mutation_p.D78Y|SSX5_ENST00000376923.1_Missense_Mutation_p.D78Y	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.D119Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CCCTGGAAGTCTGCGACCCGT	0.478000													14	225					9.31168e-06	1.34578e-05	0.001855	1	0
ZNF772	400720	broad.mit.edu	37	19	57985662	57985662	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:57985662G>T	ENST00000343280.4	-	5	710	c.450C>A	c.(448-450)ggC>ggA	p.G150G	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Silent_p.G38G|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Silent_p.G109G|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G150G(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTAAGACCAGGCCACATGTCC	0.483000													8	95					0.000274275	0.000347006	0.004482	1	0
MYH1	4619	broad.mit.edu	37	17	10419891	10419891	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:10419891C>A	ENST00000226207.5	-	3	163	c.69G>T	c.(67-69)gaG>gaT	p.E23D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	23	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E23D(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						CTTCAATTCGCTCCCTTTCAG	0.502000													28	130					1.16021e-09	2.08837e-09	0.007291	1	0
VWCE	220001	broad.mit.edu	37	11	61026563	61026563	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:61026563C>T	ENST00000335613.5	-	20	2838	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T	VWCE_ENST00000535710.1_Missense_Mutation_p.A283T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	818						extracellular region	calcium ion binding	p.A818T(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGAGCTCCTGCCGGGCTTGTA	0.602000													9	40					0	0	0.004482	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119242481	119242481	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:119242481C>G	ENST00000494664.1	+	7	938	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.L112V	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	246						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.L246V(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACTGAGCACCTCCCTGAGAA	0.348000													25	87					0	0	0.003954	0	0
EPYC	1833	broad.mit.edu	37	12	91372012	91372012	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:91372012C>A	ENST00000261172.3	-	3	285	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	65					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.G65W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCTCTGTTCCCTGAAGGCATC	0.478000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	74					9.16793e-09	1.59934e-08	0.004990	1	0
DNAH7	56171	broad.mit.edu	37	2	196718111	196718111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:196718111C>A	ENST00000312428.6	-	46	8837	c.8737G>T	c.(8737-8739)Gga>Tga	p.G2913*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2913					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G2913*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAACCACTCCGGAGGAAATG	0.512000													22	69					7.41877e-09	1.29993e-08	0.001882	1	0
LYAR	55646	broad.mit.edu	37	4	4276496	4276496	+	Splice_Site	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:4276496C>A	ENST00000343470.4	-	7	670	c.429_splice	c.e7-1	p.E144_splice	LYAR_ENST00000452476.1_Splice_Site_p.E144_splice	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	144						nucleolus	metal ion binding|protein binding	p.E144*(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGACTGGTTCCTTATCATTA	0.418000													6	94					8.12818e-05	0.000104505	0.001984	1	0
MYO5B	4645	broad.mit.edu	37	18	47421485	47421485	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:47421485C>G	ENST00000285039.7	-	22	3170	c.2871G>C	c.(2869-2871)atG>atC	p.M957I	MYO5B_ENST00000324581.6_Missense_Mutation_p.M98I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	957					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.M957I(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTCTACCTCCATGGTGTATG	0.547000													6	57					0	0	0.003080	0	0
TESK1	7016	broad.mit.edu	37	9	35606261	35606261	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:35606261A>T	ENST00000336395.5	+	3	619	c.369A>T	c.(367-369)ggA>ggT	p.G123G	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	123	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G123G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCACCAGGGACAGCTGCACG	0.562000													8	71					0	0	0.006214	0	0
NAIF1	203245	broad.mit.edu	37	9	130829231	130829231	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:130829231G>A	ENST00000373078.4	-	1	369	c.150C>T	c.(148-150)ggC>ggT	p.G50G		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	50	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus		p.G50G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTCAGGATGCCGTGCCAGG	0.622000													16	80					0	0	0.003163	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656903	40656903	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:40656903C>A	ENST00000406785.1	-	2	707	c.518G>T	c.(517-519)gGa>gTa	p.G173V	SLC8A1_ENST00000408028.2_Missense_Mutation_p.G173V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G173V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G173V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G173V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G173V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G173V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G173V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G173V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G173V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	173					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G173V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCAGCACTTCCCACGATGGT	0.468000													6	43					2.0095e-06	3.01425e-06	0.001984	1	0
SLC25A41	284427	broad.mit.edu	37	19	6427222	6427222	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:6427222C>T	ENST00000321510.6	-	6	900	c.832G>A	c.(832-834)Ggg>Agg	p.G278R		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	278					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G278R(1)		large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CTGGGGTCCCCCATATCCCTG	0.627000													6	25					0	0	0.001984	0	0
STS	412	broad.mit.edu	37	X	7175602	7175602	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:7175602G>T	ENST00000217961.4	+	4	590	c.370G>T	c.(370-372)Gat>Tat	p.D124Y		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	124					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	p.D124Y(1)|p.D124N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GCTTCTGAAGGATCAAGGTTA	0.483000									Ichthyosis				7	184					0.000157383	0.000200398	0.003080	1	0
ZNF852	285346	broad.mit.edu	37	3	44540778	44540778	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:44540778A>T	ENST00000436261.1	-	4	1651	c.1491T>A	c.(1489-1491)aaT>aaA	p.N497K				B6EU87	B6EU87_HUMAN	zinc finger protein 852	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.N497K(2)		endometrium(2)|kidney(1)|lung(5)	8						CACTCAATACATTCATAAGGT	0.463000													6	68					0	0	0.001168	0	0
GREB1	9687	broad.mit.edu	37	2	11718443	11718443	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:11718443C>A	ENST00000381486.2	+	6	958	c.658C>A	c.(658-660)Ccc>Acc	p.P220T	GREB1_ENST00000234142.5_Missense_Mutation_p.P220T|GREB1_ENST00000381483.2_Missense_Mutation_p.P220T|GREB1_ENST00000263834.5_Missense_Mutation_p.P220T|GREB1_ENST00000389825.3_Missense_Mutation_p.P110T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	220						integral to membrane		p.P220T(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCGGCAGATCCCCGCCAGTAC	0.582000													37	159					1.13552e-05	1.6175e-05	0.002222	1	0
RELB	5971	broad.mit.edu	37	19	45541024	45541024	+	Silent	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:45541024A>G	ENST00000221452.8	+	12	1866	c.1716A>G	c.(1714-1716)ctA>ctG	p.L572L	RELB_ENST00000505236.1_Silent_p.L569L|RELB_ENST00000540120.1_Silent_p.L572L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	572						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L572L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGCCTCCTATCCCCGGGGC	0.687000													6	41					0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186671918	186671918	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:186671918T>A	ENST00000343098.5	+	17	18152	c.18152T>A	c.(18151-18153)gTt>gAt	p.V6051D	FSIP2_ENST00000424728.1_Missense_Mutation_p.V5962D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.V660D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAACGTCAGGTTAACTTGATA	0.368000													6	167					0	0	0.001168	0	0
SETBP1	26040	broad.mit.edu	37	18	42532822	42532822	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:42532822C>G	ENST00000282030.5	+	4	3813	c.3517C>G	c.(3517-3519)Ctt>Gtt	p.L1173V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1173						nucleus	DNA binding	p.L1119V(1)|p.L1173V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGAGTGGTCTTTTTGCAGG	0.542000									Schinzel-Giedion syndrome				7	66					0	0	0.001984	0	0
MYH9	4627	broad.mit.edu	37	22	36684364	36684364	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:36684364C>A	ENST00000216181.5	-	34	5096	c.4866G>T	c.(4864-4866)ctG>ctT	p.L1622L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1622					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E1623*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTGCGCCTCCAGGTCCTTCA	0.657000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	73					0.000157383	0.000200398	0.003080	1	0
MUC16	94025	broad.mit.edu	37	19	9066578	9066578	+	Silent	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:9066578G>C	ENST00000397910.4	-	3	21071	c.20868C>G	c.(20866-20868)acC>acG	p.T6956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6956T(2)|p.T2589T(1)		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						GGGAAATGCTGGTCTCTCTCA	0.448000													20	175					0	0	0.008871	0	0
PTPRU	10076	broad.mit.edu	37	1	29606079	29606079	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:29606079C>T	ENST00000373779.3	+	10	1804	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	PTPRU_ENST00000356870.3_Missense_Mutation_p.P559S|PTPRU_ENST00000345512.3_Missense_Mutation_p.P559S|PTPRU_ENST00000428026.2_Missense_Mutation_p.P559S|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.P559S|PTPRU_ENST00000460170.2_Missense_Mutation_p.P559S	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	559	Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.P559S(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAACCTGCACCCAGGCACCAC	0.602000													10	162					0	0	0.008291	0	0
POU6F2	11281	broad.mit.edu	37	7	39500186	39500186	+	Silent	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:39500186G>C	ENST00000518318.2	+	9	1485	c.1443G>C	c.(1441-1443)ctG>ctC	p.L481L	POU6F2_ENST00000559001.1_Silent_p.L426L|POU6F2_ENST00000403058.1_Silent_p.L481L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	481	POU-specific.				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	p.L481L(1)		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						GGGTTAATCTGGAGGAGATCC	0.512000													6	24					0	0	0.001168	0	0
SMYD3	64754	broad.mit.edu	37	1	246493833	246493833	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:246493833C>T	ENST00000490107.1	-	4	382	c.166G>A	c.(166-168)Gga>Aga	p.G56R	SMYD3_ENST00000403792.3_Missense_Mutation_p.G115R|SMYD3_ENST00000388985.4_Missense_Mutation_p.G115R|SMYD3_ENST00000541742.1_Missense_Mutation_p.G56R	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	115						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.G115R(1)|p.G56R(1)		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)		GAAGGTGCTCCATCCATCTGT	0.318000													6	101					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914435	147914435	+	Silent	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:147914435A>G	ENST00000361727.3	+	19	3582	c.3066A>G	c.(3064-3066)ccA>ccG	p.P1022P	CNTNAP2_ENST00000538075.1_Silent_p.P81P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1022					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1022P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCAGGCACCAGCAACAAATG	0.493000										HNSCC(39;0.1)			18	93					0	0	0.006122	0	0
MXRA5	25878	broad.mit.edu	37	X	3235811	3235811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:3235811C>A	ENST00000217939.6	-	6	6065	c.5911G>T	c.(5911-5913)Gag>Tag	p.E1971*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1971	Ig-like C2-type 4.					extracellular region		p.E1971*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCAGACACTCCATTGCAATG	0.587000													4	73					0.000602214	0.000752293	0.000602	1	0
SPATA22	84690	broad.mit.edu	37	17	3352250	3352250	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:3352250G>A	ENST00000573128.1	-	6	1006	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	SPATA22_ENST00000355380.4_Missense_Mutation_p.L132F|SPATA22_ENST00000575375.1_Missense_Mutation_p.L175F|SPATA22_ENST00000397168.3_Missense_Mutation_p.L175F|SPATA22_ENST00000268981.5_Missense_Mutation_p.L175F|SPATA22_ENST00000572969.1_Missense_Mutation_p.L175F|SPATA22_ENST00000541913.1_Missense_Mutation_p.L159F			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	175								p.L175F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GTTTGTCTGAGTAGCTCGGTT	0.388000													8	261					0	0	0.004482	0	0
VCX3B	425054	broad.mit.edu	37	X	8433568	8433568	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:8433568C>A	ENST00000381032.1	+	2	384	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	VCX3B_ENST00000453306.1_Missense_Mutation_p.P26Q|VCX3B_ENST00000440654.2_Missense_Mutation_p.P26Q|VCX3B_ENST00000381029.4_Missense_Mutation_p.P26Q|VCX3B_ENST00000444481.1_Missense_Mutation_p.P26Q	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	26						nucleolus		p.P26Q(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TCCTCTCAGCCGAGCCCCAGT	0.607000													13	94					1.02788e-11	1.91099e-11	0.004990	1	0
RBM27	54439	broad.mit.edu	37	5	145665588	145665588	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:145665588A>G	ENST00000265271.5	+	21	3344	c.3178A>G	c.(3178-3180)Aga>Gga	p.R1060G	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1060					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.R1060G(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATGGCGAAGATGAAATCT	0.308000													5	68					0	0	0.000602	0	0
APPBP2	10513	broad.mit.edu	37	17	58541402	58541402	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:58541402C>T	ENST00000083182.3	-	6	1029	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	APPBP2_ENST00000592995.1_Intron	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	248					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.V248I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGTCTTAAGACATCCACCACA	0.294000													7	66					0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164777707	164777707	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:164777707C>G	ENST00000264382.3	-	10	1191	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	377	Isomaltase.				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.E377Q(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)	ATGCCAGCTTCCCGGTTTCTC	0.383000										HNSCC(35;0.089)			31	501					0	0	0.003271	0	0
SNTB2	6645	broad.mit.edu	37	16	69279517	69279517	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:69279517G>A	ENST00000336278.4	+	2	631	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	198	PDZ.|PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	p.R198Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AAGTTCATCCGAGAAGTAACA	0.383000													6	211					0	0	0.004482	0	0
DDX59	83479	broad.mit.edu	37	1	200635159	200635159	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:200635159C>T	ENST00000447706.2	-	2	861	c.710G>A	c.(709-711)gGa>gAa	p.G237E	DDX59_ENST00000367348.3_Missense_Mutation_p.G237E|DDX59_ENST00000331314.6_Missense_Mutation_p.G237E			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	237	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	p.G237E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCCCAGAAGTCCCACAGGAAT	0.443000													10	157					0	0	0.000978	0	0
CUL4B	8450	broad.mit.edu	37	X	119668355	119668355	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:119668355G>T	ENST00000371322.5	-	17	2308	c.2247C>A	c.(2245-2247)atC>atA	p.I749I	CUL4B_ENST00000336592.6_Silent_p.I754I|CUL4B_ENST00000404115.3_Silent_p.I767I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	767					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.I749I(1)|p.I767I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGCCTGCTTGATCTCTTCTA	0.388000													37	260					6.33695e-27	1.30022e-26	0.007835	1	0
SPAG17	200162	broad.mit.edu	37	1	118566053	118566053	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:118566053G>T	ENST00000336338.5	-	28	4008	c.3943C>A	c.(3943-3945)Ccc>Acc	p.P1315T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1315						cilium|flagellar axoneme|microtubule		p.P1315T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGAATTGGGACTCCTGCTC	0.423000													4	66					1.6384e-10	2.98989e-10	0.001984	1	0
PLCB1	23236	broad.mit.edu	37	20	8717720	8717720	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr20:8717720G>T	ENST00000378641.3	+	20	2564	c.2089G>T	c.(2089-2091)Gtg>Ttg	p.V697L	PLCB1_ENST00000378637.2_Missense_Mutation_p.V697L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.V697L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	697	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.V697L(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGACTTACGTGGAAGTAGA	0.358000													10	86					3.86212e-05	5.08106e-05	0.008291	1	0
TRAV7	28686	broad.mit.edu	37	14	22251518	22251518	+	RNA	SNP	G	G	T	rs144137393	by1000genomes	TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:22251518G>T	ENST00000390429.3	+	0	135																											TGAGCTGCACGTACTCTGTCA	0.483000													6	53					3.59834e-05	4.79778e-05	0.001168	1	0
RP1L1	94137	broad.mit.edu	37	8	10467307	10467307	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:10467307C>A	ENST00000382483.3	-	4	4524	c.4301G>T	c.(4300-4302)aGa>aTa	p.R1434I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1434					intracellular signal transduction			p.R1434I(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCAGAGGCTCTTCCTGCTTC	0.627000													10	373					2.17888e-05	3.0064e-05	0.006214	1	0
PPL	5493	broad.mit.edu	37	16	4934298	4934298	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:4934298G>T	ENST00000345988.2	-	22	4447	c.4358C>A	c.(4357-4359)cCg>cAg	p.P1453Q	PPL_ENST00000590782.2_Missense_Mutation_p.P1451Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1453					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.P1453Q(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGCCTGCTGCGGGTCCTGCTG	0.657000													15	106					0.000219431	0.000278509	0.002450	1	0
TBX1	6899	broad.mit.edu	37	22	19752613	19752613	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:19752613G>T	ENST00000332710.4	+	6	946	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F	TBX1_ENST00000329705.7_Missense_Mutation_p.V273F|TBX1_ENST00000359500.3_Missense_Mutation_p.V273F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	273					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V273F(3)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ATTCACCGCGGTCACTGCCTA	0.547000													4	52					8.12818e-05	0.000104505	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179428039	179428039	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:179428039A>C	ENST00000589042.1	-	326	83044	c.82820T>G	c.(82819-82821)gTa>gGa	p.V27607G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18734G|TTN_ENST00000591111.1_Missense_Mutation_p.V25966G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25039G|TTN_ENST00000460472.2_Missense_Mutation_p.V18542G|TTN_ENST00000359218.5_Missense_Mutation_p.V18667G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25966	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18667G(1)|p.V25039G(1)|p.V25037G(1)|p.V18542G(1)|p.V18734G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACCTCTACAACATAGCC	0.468000													3	91					0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	114448979	114448979	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:114448979C>A	ENST00000297405.5	-	1	349	c.105G>T	c.(103-105)atG>atT	p.M35I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M35I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M35I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	35						integral to membrane|plasma membrane		p.M35I(1)		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						CCATTTTCTTCATCAGGATGA	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	168					3.51602e-12	6.6302e-12	0.008871	1	0
RALGAPB	57148	broad.mit.edu	37	20	37177415	37177415	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr20:37177415A>T	ENST00000262879.6	+	20	3270	c.2986A>T	c.(2986-2988)Aga>Tga	p.R996*	RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.R996*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.R992*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.R774*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	996					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.R996*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTTTACCCAGAGGAGCAAA	0.408000													5	100					0	0	0.001168	0	0
ARAP2	116984	broad.mit.edu	37	4	36161127	36161127	+	Splice_Site	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:36161127C>A	ENST00000303965.4	-	14	2932	c.2442_splice	c.e14-1	p.A815_splice		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	815					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.A815S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GCACATAGAGCCTGGTCATTA	0.393000													7	57					0.00198382	0.0023951	0.001984	1	0
SLC6A16	28968	broad.mit.edu	37	19	49813408	49813408	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:49813408C>A	ENST00000454748.3	-	4	790	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C	SLC6A16_ENST00000335875.4_Missense_Mutation_p.G197C			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	197						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.G197C(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AAGTACAGGCCGAGGATGAAG	0.522000													19	63					7.45023e-12	1.39824e-11	0.001523	1	0
PRDM9	56979	broad.mit.edu	37	5	23522490	23522490	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:23522490G>A	ENST00000296682.3	+	7	768	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	196					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E196K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGTCAGCGAGCCGCAGGA	0.458000										HNSCC(3;0.000094)			32	221					0	0	0.004878	0	0
USH2A	7399	broad.mit.edu	37	1	216595317	216595317	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:216595317T>C	ENST00000366943.2	-	2	748	c.362A>G	c.(361-363)cAt>cGt	p.H121R	USH2A_ENST00000366942.3_Missense_Mutation_p.H121R|USH2A_ENST00000307340.3_Missense_Mutation_p.H121R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	121					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.H121R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTGCTATGGGCGTTAGG	0.458000										HNSCC(13;0.011)			3	89					0	0	0.004672	0	0
ZNF131	7690	broad.mit.edu	37	5	43161516	43161516	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:43161516G>T	ENST00000509634.1	+	4	993	c.537G>T	c.(535-537)gtG>gtT	p.V179V	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Silent_p.V179V|ZNF131_ENST00000509156.1_Silent_p.V179V|ZNF131_ENST00000505606.2_Silent_p.V179V|ZNF131_ENST00000399534.1_Silent_p.V179V			P52739	ZN131_HUMAN	zinc finger protein 131	179						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V179V(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCATTGAAGTGGAAGATGAAG	0.443000													5	99					3.59834e-05	4.79778e-05	0.001168	1	0
REEP4	80346	broad.mit.edu	37	8	21996976	21996976	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:21996976G>T	ENST00000306306.3	-	5	838	c.370C>A	c.(370-372)Cgg>Agg	p.R124R	REEP4_ENST00000334530.5_Silent_p.R124R|REEP4_ENST00000523293.1_Silent_p.R124R	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	124						integral to membrane		p.R124R(1)		kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTGAGGCCCCGCTTCCCGAAG	0.662000													8	36					0.00448238	0.0053304	0.004482	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72511354	72511354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:72511354G>T	ENST00000373208.1	+	17	2557	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.E850*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	850	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E853*(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGACACCTATGAGTGGGCGCT	0.627000													9	49					3.09899e-07	5.00897e-07	0.004482	1	0
CAPN6	827	broad.mit.edu	37	X	110490609	110490609	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:110490609G>A	ENST00000324068.1	-	12	1897	c.1730C>T	c.(1729-1731)cCt>cTt	p.P577L	CAPN6_ENST00000541758.1_Missense_Mutation_p.P322L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	577	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.P577L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACTATAATAGGAATGTCAGT	0.423000													8	297					0	0	0.006214	0	0
OR5B17	219965	broad.mit.edu	37	11	58125859	58125859	+	Silent	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:58125859T>A	ENST00000357377.3	-	1	683	c.684A>T	c.(682-684)acA>acT	p.T228T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCCCTTACCTGTGTGCCTCT	0.348000													12	39					0	0	0.000978	0	0
PEAR1	375033	broad.mit.edu	37	1	156878710	156878710	+	Silent	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:156878710C>G	ENST00000338302.3	+	12	1518	c.1293C>G	c.(1291-1293)ggC>ggG	p.G431G	PEAR1_ENST00000292357.7_Silent_p.G431G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	431	EGF-like 5.					integral to membrane		p.G431G(1)		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)					TCTTTCAGGGCCCTCACTGTG	0.627000													16	57					0	0	0.006122	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599712	136599712	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:136599712T>C	ENST00000531224.1	-	4	559	c.307A>G	c.(307-309)Agg>Ggg	p.R103G	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R103G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R103G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R101G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R101G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R101G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	103					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R103G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTAGGACTCCTAGAGTGCCTT	0.473000													14	259					0	0	0.003163	0	0
ACTG2	72	broad.mit.edu	37	2	74129499	74129499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:74129499G>T	ENST00000409624.1	+	4	782	c.139G>T	c.(139-141)Gga>Tga	p.G47*	ACTG2_ENST00000409918.1_Nonsense_Mutation_p.G47*|ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.G47*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	47					muscle contraction	cytoskeleton|cytosol	ATP binding	p.G47*(1)		large_intestine(3)|lung(14)|skin(1)	18						TGTGATGGTGGGAATGGGCCA	0.502000													4	56					1.23904e-05	1.73993e-05	0.000602	1	0
TP53BP1	7158	broad.mit.edu	37	15	43748729	43748729	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:43748729G>A	ENST00000263801.3	-	12	2314	c.2062C>T	c.(2062-2064)Ccg>Tcg	p.P688S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P693S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P693S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P693S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	688					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.P688S(3)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGGTGCAACGGAACACTCTCC	0.453000								Other conserved DNA damage response genes					11	132					0	0	0.001855	0	0
HDX	139324	broad.mit.edu	37	X	83730391	83730391	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:83730391A>T	ENST00000297977.5	-	2	126	c.15T>A	c.(13-15)tcT>tcA	p.S5S	HDX_ENST00000373177.2_Silent_p.S5S|HDX_ENST00000506585.2_Intron	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S5S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAGTAAATACAGAACGTAGAT	0.279000													4	46					0	0	0.000248	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774680	140774680	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:140774680A>C	ENST00000398604.2	+	1	2300	c.2300A>C	c.(2299-2301)cAc>cCc	p.H767P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1												p.H767P(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAGAGTCACCTGATCTTT	0.507000													16	90					0	0	0.006122	0	0
FLG2	388698	broad.mit.edu	37	1	152328814	152328814	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:152328814C>A	ENST00000388718.5	-	3	1520	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	483	Ser-rich.						calcium ion binding|structural molecule activity	p.G483V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGACCCATGTTGTCC	0.527000													38	335					1.90571e-15	3.81142e-15	0.004289	1	0
CCDC96	257236	broad.mit.edu	37	4	7043210	7043210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:7043210C>A	ENST00000310085.4	-	1	1518	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	486								p.E486*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGCAGCCCCTCTCGGGCTTGC	0.557000													27	159					2.12542e-12	4.06601e-12	0.006320	1	0
NSUN3	63899	broad.mit.edu	37	3	93813893	93813893	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:93813893C>T	ENST00000314622.4	+	5	849	c.638C>T	c.(637-639)cCg>cTg	p.P213L		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	213							methyltransferase activity	p.P213L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTGGATGCTCCGTGTTCAAAT	0.408000													9	140					0	0	0.004482	0	0
RYR2	6262	broad.mit.edu	37	1	237886560	237886560	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:237886560C>A	ENST00000366574.2	+	74	11004	c.10687C>A	c.(10687-10689)Cag>Aag	p.Q3563K	RYR2_ENST00000542537.1_Missense_Mutation_p.Q3547K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q3561K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3563					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	p.Q3561K(1)		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)			TCATCTTGAACAGGTCAGGCT	0.348000													9	96					2.17888e-05	3.0064e-05	0.006214	1	0
MRPL45	84311	broad.mit.edu	37	17	36455435	36455435	+	Splice_Site	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:36455435G>T	ENST00000312513.5	+	3	523		c.e3+1			NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45						intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	p.?(1)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACAAGTGTCGTAGGTGTCTG	0.408000													8	63					4.68919e-08	7.96961e-08	0.008291	1	0
FAM47A	158724	broad.mit.edu	37	X	34148334	34148334	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:34148334C>A	ENST00000346193.3	-	1	2113	c.2062G>T	c.(2062-2064)Gca>Tca	p.A688S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	688								p.A688S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACACGCTGTGCGGTATAAGAA	0.438000													6	136					2.0095e-06	3.01425e-06	0.001984	1	0
ZNF385D	79750	broad.mit.edu	37	3	21706497	21706497	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:21706497G>T	ENST00000281523.2	-	2	564	c.46C>A	c.(46-48)Ctc>Atc	p.L16I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	16						nucleus	nucleic acid binding|zinc ion binding	p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGGCCGGGAGAGCAGGACTC	0.512000													8	24					1.76689e-08	3.04213e-08	0.006214	1	0
TG	7038	broad.mit.edu	37	8	133882039	133882039	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:133882039T>C	ENST00000220616.4	+	3	282	c.242T>C	c.(241-243)cTg>cCg	p.L81P	TG_ENST00000377869.1_Missense_Mutation_p.L81P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	81	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.L81P(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGAAGTGCTGGGCAGCAGG	0.627000													3	52					0	0	0.004672	0	0
OR14A16	284532	broad.mit.edu	37	1	247978621	247978621	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:247978621G>T	ENST00000357627.1	-	1	410	c.411C>A	c.(409-411)agC>agA	p.S137R		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S137R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGACACAGGTGCTCCTGTCCA	0.522000													10	137					1.58986e-06	2.45932e-06	0.008291	1	0
RXFP3	51289	broad.mit.edu	37	5	33936931	33936931	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:33936931C>T	ENST00000330120.3	+	1	441	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	29						integral to plasma membrane	N-formyl peptide receptor activity	p.P29L(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGTCTGGTCCCGGACCTTCTG	0.632000													10	82					0	0	0.000978	0	0
PCBP3	54039	broad.mit.edu	37	21	47359949	47359949	+	Splice_Site	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr21:47359949A>T	ENST00000468429.1	+	9	666		c.e9-1		PCBP3_ENST00000400308.1_Silent_p.I279I|PCBP3_ENST00000400309.1_Silent_p.I304I|PCBP3_ENST00000400310.1_Silent_p.I285I|PCBP3_ENST00000400314.1_Silent_p.I305I|PCBP3_ENST00000449640.1_Silent_p.I305I|PCBP3_ENST00000400304.1_Silent_p.I295I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.I305I(1)|p.I273I(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCTAGCTAATAGGCTGCATAA	0.567000													5	77					0	0	0.000602	0	0
WWC3	55841	broad.mit.edu	37	X	10092351	10092351	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:10092351G>C	ENST00000380861.4	+	13	2189	c.1798G>C	c.(1798-1800)Gga>Cga	p.G600R	WWC3_ENST00000454666.1_Missense_Mutation_p.G600R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	600								p.G600R(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGCCAGTAACGGAGATCCCCA	0.607000													7	65					0	0	0.001984	0	0
OR2J2	26707	broad.mit.edu	37	6	29141761	29141761	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:29141761G>T	ENST00000377167.2	+	1	451	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117L(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTCCTACTGGTGGTGATGTC	0.488000													71	366					4.29146e-36	8.99162e-36	0.003610	1	0
C7orf34	135927	broad.mit.edu	37	7	142637620	142637620	+	Silent	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:142637620G>C	ENST00000409607.3	+	2	431	c.390G>C	c.(388-390)ggG>ggC	p.G130G		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	105						extracellular region		p.G105G(1)|p.G130G(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TCTCAGGAGGGCCATTGAGGC	0.537000													10	138					0	0	0.006214	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088981	43088981	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:43088981C>G	ENST00000359467.3	-	5	1531	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	473						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCCCACACTCAAGACATTCA	0.378000													3	69					0	0	0.004672	0	0
CBLL1	79872	broad.mit.edu	37	7	107399240	107399240	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:107399240C>T	ENST00000440859.2	+	6	1560	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	CBLL1_ENST00000222597.2_Missense_Mutation_p.P364S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	365	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P365S(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCAGGTACTCCTCACTTGGT	0.527000													14	257					0	0	0.004990	0	0
HMGCR	3156	broad.mit.edu	37	5	74655898	74655898	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:74655898G>T	ENST00000287936.4	+	19	2702	c.2546G>T	c.(2545-2547)gGg>gTg	p.G849V	HMGCR_ENST00000511206.1_Missense_Mutation_p.G849V|HMGCR_ENST00000343975.5_Missense_Mutation_p.G796V	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	849	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	p.G849V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GTAATGGCTGGGGAATTGTCA	0.478000													11	112					3.86212e-05	5.08106e-05	0.008291	1	0
CDH7	1005	broad.mit.edu	37	18	63492008	63492008	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:63492008G>T	ENST00000536984.2	+	6	1616	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C	CDH7_ENST00000323011.3_Missense_Mutation_p.G308C|CDH7_ENST00000397968.2_Missense_Mutation_p.G308C			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	308	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G308C(2)		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)				TGATGGTTTGGGCATTTTTAA	0.368000													15	96					5.01169e-05	6.54994e-05	0.004990	1	0
PKHD1	5314	broad.mit.edu	37	6	51920529	51920529	+	Splice_Site	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:51920529T>C	ENST00000371117.3	-	19	1969		c.e19-2		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTGGGCCTGGATGCAGTT	0.483000													4	25					0	0	0.000248	0	0
LOX	4015	broad.mit.edu	37	5	121409740	121409740	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:121409740G>T	ENST00000231004.4	-	4	1302	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	335	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	p.H335N(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AATCGCCTGTGGTAGCCATAG	0.498000													24	254					3.28513e-13	6.37701e-13	0.003954	1	0
GPR125	166647	broad.mit.edu	37	4	22425944	22425944	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:22425944T>C	ENST00000334304.5	-	11	1744	c.1475A>G	c.(1474-1476)aAc>aGc	p.N492S	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.N266S|GPR125_ENST00000502482.1_Missense_Mutation_p.N492S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	492					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.N492S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAACATGATGTTACTTGCAAT	0.458000													10	178					0	0	0.006214	0	0
GABRA3	2556	broad.mit.edu	37	X	151336800	151336800	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:151336800C>A	ENST00000370314.4	-	10	1617	c.1379G>T	c.(1378-1380)cGc>cTc	p.R460L	GABRA3_ENST00000370311.1_Missense_Mutation_p.R460L|GABRA3_ENST00000535043.1_Missense_Mutation_p.R460L|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	460					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R460L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGATGATGCGGGAAATTTT	0.498000													44	157					1.15183e-24	2.35116e-24	0.002222	1	0
DCHS1	8642	broad.mit.edu	37	11	6650685	6650685	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:6650685G>A	ENST00000299441.3	-	12	5570	c.5159C>T	c.(5158-5160)aCa>aTa	p.T1720I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1720	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1720I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTACCTGTCAGGTTGAT	0.493000													5	20					0	0	0.000602	0	0
WNK3	65267	broad.mit.edu	37	X	54259271	54259271	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:54259271G>T	ENST00000354646.2	-	21	5249	c.4811C>A	c.(4810-4812)aCa>aAa	p.T1604K	WNK3_ENST00000375169.3_Missense_Mutation_p.T1557K|WNK3_ENST00000375159.2_Missense_Mutation_p.T1604K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1557					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.T1604K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTCCACATGTGTCAAGGACTG	0.383000													14	146					2.31682e-05	3.18563e-05	0.003163	1	0
DUSP27	92235	broad.mit.edu	37	1	167095997	167095997	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:167095997C>A	ENST00000361200.2	+	6	1795	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	DUSP27_ENST00000443333.1_Silent_p.A543A|DUSP27_ENST00000271385.5_Silent_p.A543A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	543					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.A543A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTCACTGCCCTGGAAAGAT	0.552000													10	91					2.17888e-05	3.0064e-05	0.006214	1	0
TSTA3	7264	broad.mit.edu	37	8	144698279	144698279	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:144698279G>A	ENST00000425753.2	-	3	361	c.258C>T	c.(256-258)ttC>ttT	p.F86F	TSTA3_ENST00000529064.1_Silent_p.F86F	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	86					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.F86F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CACTTACCCAGAAGTCCAAAT	0.567000													4	45					0	0	0.000248	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517545	173517545	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:173517545T>C	ENST00000367714.3	-	12	1866	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R380G|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	482					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R482G(1)									TATTCGATCCTCGTTTTATCT	0.368000													3	85					0	0	0.000248	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911166	101911166	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:101911166G>T	ENST00000537097.1	+	6	3138	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D	GPRASP1_ENST00000361600.5_Missense_Mutation_p.E775D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E775D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E775D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	775	Glu-rich.					cytoplasm	protein binding	p.E775D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGCTGAGGAGGGGGACATTA	0.493000													7	177					1.06961e-07	1.77225e-07	0.003080	1	0
AKR1D1	6718	broad.mit.edu	37	7	137790082	137790082	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:137790082G>C	ENST00000242375.3	+	5	528	c.486G>C	c.(484-486)ttG>ttC	p.L162F	AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.L162F|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	162					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.L162F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACGCTGGCTTGGTGAAATCCC	0.488000													36	180					0	0	0.003271	0	0
CEP250	11190	broad.mit.edu	37	20	34091626	34091626	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr20:34091626G>C	ENST00000397527.1	+	30	6149	c.5429G>C	c.(5428-5430)aGa>aCa	p.R1810T	CEP250_ENST00000342580.4_Missense_Mutation_p.R1754T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1810	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.R1810T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGGCCCAGAGAGCCCTAGCC	0.597000													10	44					0	0	0.006214	0	0
CYLC1	1538	broad.mit.edu	37	X	83128659	83128659	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:83128659A>G	ENST00000329312.4	+	4	980	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	315					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.K315E(1)|p.K314E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGTTAAGAAAAATGTCAA	0.343000													13	57					0	0	0.001855	0	0
REG1A	5967	broad.mit.edu	37	2	79349965	79349965	+	Splice_Site	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:79349965A>G	ENST00000233735.1	+	5	424		c.e5-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.?(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCCCCATCTAGAACCGCCGC	0.547000													11	129					0	0	0.000978	0	0
PDE6C	5146	broad.mit.edu	37	10	95380394	95380394	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:95380394C>T	ENST00000371447.3	+	2	624	c.486C>T	c.(484-486)agC>agT	p.S162S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	162	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S162S(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTCAGAACAGCCATTTTTCTG	0.443000													10	98					0	0	0.006214	0	0
COL3A1	1281	broad.mit.edu	37	2	189839273	189839273	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:189839273A>G	ENST00000304636.3	+	1	228	c.58A>G	c.(58-60)Att>Gtt	p.I20V	COL3A1_ENST00000317840.5_Missense_Mutation_p.I20V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	20					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.I20V(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCATCCCACTATTATTTTGGC	0.413000													7	107					0	0	0.001984	0	0
SLC18A2	6571	broad.mit.edu	37	10	119029956	119029956	+	Silent	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:119029956T>A	ENST00000298472.5	+	15	1565	c.1422T>A	c.(1420-1422)ccT>ccA	p.P474P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	474					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.P474P(1)		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)	GAAGTCCACCTGCCAAAGAAG	0.378000													4	59					0	0	0.000602	0	0
NUP62	23636	broad.mit.edu	37	19	50413058	50413058	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:50413058C>A	ENST00000596217.1	-	2	1894	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W	NUP62_ENST00000422090.2_Missense_Mutation_p.G3W|NUP62_ENST00000413454.1_Missense_Mutation_p.G3W|NUP62_ENST00000597029.1_Missense_Mutation_p.G3W|IL4I1_ENST00000595948.1_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597723.1_Missense_Mutation_p.G3W|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.G3W|NUP62_ENST00000600583.1_5'UTR			P37198	NUP62_HUMAN	nucleoporin 62kDa	3	15 X 9 AA approximate repeats.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.G3W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAATTAAACCCGCTCATGGCT	0.557000													6	25					2.0095e-06	3.01425e-06	0.001984	1	0
C17orf70	80233	broad.mit.edu	37	17	79517597	79517597	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:79517597T>C	ENST00000537152.1	-	3	995	c.470A>G	c.(469-471)cAc>cGc	p.H157R	C17orf70_ENST00000327787.8_Missense_Mutation_p.H308R	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	308					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.H157R(1)|p.H308R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAGTCACAGTGCACATCCTC	0.607000													7	61					0	0	0.001984	0	0
SYTL5	94122	broad.mit.edu	37	X	37969676	37969676	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:37969676C>A	ENST00000357972.5	+	13	2083	c.1537C>A	c.(1537-1539)Cct>Act	p.P513T	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.P535T|SYTL5_ENST00000297875.2_Missense_Mutation_p.P513T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	513					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.P513T(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGTAGAGATTCCTTTTGACTC	0.443000													12	147					0.00010058	0.000128899	0.001368	1	0
DNPEP	23549	broad.mit.edu	37	2	220246787	220246787	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:220246787G>A	ENST00000273075.4	-	11	1231	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	DNPEP_ENST00000523282.1_Silent_p.C345C|DNPEP_ENST00000373972.1_Silent_p.C262C	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	327					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.C337C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TCGGGTGCTGGCACGAGGCTG	0.592000													3	32					0	0	0.004672	0	0
RC3H1	149041	broad.mit.edu	37	1	173930234	173930234	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:173930234G>A	ENST00000367696.2	-	13	2702	c.2351C>T	c.(2350-2352)cCt>cTt	p.P784L	RC3H1_ENST00000367694.2_Missense_Mutation_p.P784L|RC3H1_ENST00000258349.4_Missense_Mutation_p.P784L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	784	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.P784L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATGAAAGGTAGGAGGCAAGGT	0.428000													4	79					0	0	0.000248	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900021	130900021	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:130900021G>A	ENST00000392984.3	-	2	1278	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409128.1_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	161										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCCTCTTCCCGTGTCCTGTCA	0.632000													5	38					0	0	0.001168	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806622	6806622	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:6806622G>T	ENST00000307401.4	+	1	375	c.354G>T	c.(352-354)atG>atT	p.M118I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M118I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCTTCATGGCCTATGACA	0.547000													9	67					1.12685e-05	1.61095e-05	0.004482	1	0
FAM135B	51059	broad.mit.edu	37	8	139151231	139151231	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:139151231G>C	ENST00000395297.1	-	18	4069	c.3899C>G	c.(3898-3900)aCa>aGa	p.T1300R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1300								p.T1300R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCT	0.443000										HNSCC(54;0.14)			15	61					0	0	0.003163	0	0
MORC1	27136	broad.mit.edu	37	3	108698378	108698378	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:108698378G>T	ENST00000232603.5	-	24	2543	c.2461C>A	c.(2461-2463)Ctg>Atg	p.L821M	MORC1_ENST00000483760.1_Missense_Mutation_p.L800M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	821					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.L821M(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTAGACTTCAGTTTTCTCACT	0.403000													6	150					0.00198382	0.0023951	0.001984	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766156	77766156	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:77766156G>T	ENST00000521891.2	+	10	7447	c.6999G>T	c.(6997-6999)aaG>aaT	p.K2333N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2288N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2288N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2307N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K2317N(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)			ATCAGAAAAAGCAGTGTTACA	0.423000										HNSCC(33;0.089)			18	115					6.33239e-15	1.25381e-14	0.001523	1	0
GALNT8	26290	broad.mit.edu	37	12	4848400	4848400	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:4848400T>A	ENST00000252318.2	+	3	918	c.581T>A	c.(580-582)cTg>cAg	p.L194Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	194	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L194Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AATGAAGCTCTGTCCATTATA	0.423000													3	87					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179575972	179575972	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:179575972A>C	ENST00000589042.1	-	97	28215	c.27991T>G	c.(27991-27993)Tcc>Gcc	p.S9331A	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S9014A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8087A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9014	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8087A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGACACGGAGATAGGTTCT	0.378000													59	223					0	0	0.003610	0	0
SNRPB	6628	broad.mit.edu	37	20	2446399	2446399	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr20:2446399C>A	ENST00000381342.2	-	3	384	c.222G>T	c.(220-222)ggG>ggT	p.G74G	SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000438552.2_Silent_p.G74G	NM_003091.3	NP_003082.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	74					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	p.G74G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCAGATTCTCCCCTCGCAGCA	0.522000													6	71					5.9392e-07	9.44547e-07	0.001168	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604625	140604625	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:140604625C>A	ENST00000239449.4	+	1	1548	c.1548C>A	c.(1546-1548)ctC>ctA	p.L516L	PCDHB14_ENST00000515856.2_Silent_p.L363L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L516Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGCCCTCAGGTCGCTGG	0.682000													11	126					3.07112e-06	4.50431e-06	0.000978	1	0
FCAR	2204	broad.mit.edu	37	19	55385779	55385779	+	Splice_Site	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:55385779G>A	ENST00000355524.3	+	1	44	c.34_splice	c.e1+1	p.V12_splice	FCAR_ENST00000345937.4_Splice_Site_p.V12_splice|FCAR_ENST00000391724.3_Splice_Site_p.G12_splice|FCAR_ENST00000469767.1_Splice_Site_p.V12_splice|FCAR_ENST00000391726.3_Splice_Site_p.G12_splice|FCAR_ENST00000359272.4_Splice_Site_p.G12_splice|FCAR_ENST00000391725.3_Splice_Site_p.V12_splice|FCAR_ENST00000391723.3_Splice_Site_p.G12_splice|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Splice_Site_p.G12_splice	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	12					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.V12M(2)|p.V12L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCTGTGTCTTGGTGAGTTTCA	0.478000													11	80					0	0	0.000978	0	0
ADCY4	196883	broad.mit.edu	37	14	24788542	24788542	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:24788542G>T	ENST00000310677.4	-	23	2947	c.2834C>A	c.(2833-2835)gCa>gAa	p.A945E	ADCY4_ENST00000554068.2_Missense_Mutation_p.A945E|ADCY4_ENST00000418030.2_Missense_Mutation_p.A945E	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	945					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.A945E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TACCTGTTGTGCATCCTGTCC	0.552000													12	68					1.5842e-08	2.75151e-08	0.001855	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686090	108686090	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:108686090T>A	ENST00000397688.2	-	3	1013	c.644A>T	c.(643-645)cAc>cTc	p.H215L	CMKLR1_ENST00000312143.7_Missense_Mutation_p.H217L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.H217L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.H215L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.H217L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	217					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.H215L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CACCACCATGTGCCGGCTATA	0.562000													3	38					0	0	0.004672	0	0
RABGGTA	5875	broad.mit.edu	37	14	24735687	24735687	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:24735687C>A	ENST00000399409.3	-	15	1987	c.1504G>T	c.(1504-1506)Gac>Tac	p.D502Y	RABGGTA_ENST00000216840.6_Missense_Mutation_p.D502Y|RABGGTA_ENST00000560777.1_Missense_Mutation_p.D111Y	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	502					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	p.D502Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTGACGCCGTCCAGGGACTCT	0.607000													9	75					0.000442599	0.000556411	0.006214	1	0
MARCH8	220972	broad.mit.edu	37	10	45953764	45953764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:45953764C>A	ENST00000453424.2	-	8	1906	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	MARCH8_ENST00000319836.3_Nonsense_Mutation_p.G267*|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Nonsense_Mutation_p.G267*|MARCH8_ENST00000395771.3_Nonsense_Mutation_p.G267*			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	267						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G267*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TGACAGATTCCATATCCATGT	0.388000													12	106					2.80697e-09	4.94027e-09	0.000978	1	0
RGAG4	340526	broad.mit.edu	37	X	71349932	71349932	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:71349932C>A	ENST00000545866.1	-	1	1826	c.1459G>T	c.(1459-1461)Ggt>Tgt	p.G487C	RGAG4_ENST00000479991.1_Missense_Mutation_p.G487C|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	487								p.G560C(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCGTGGTAACCACTTGTGGGG	0.557000													13	47					0.00136819	0.00167224	0.001368	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774290	140774290	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:140774290C>A	ENST00000398604.2	+	1	1910	c.1910C>A	c.(1909-1911)gCg>gAg	p.A637E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1												p.A637E(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCGCTCAAGCAG	0.682000													6	38					0.00116845	0.00143697	0.001168	1	0
OR52E6	390078	broad.mit.edu	37	11	5862540	5862540	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:5862540G>T	ENST00000329322.5	-	1	587	c.588C>A	c.(586-588)gtC>gtA	p.V196V	OR52E6_ENST00000379946.2_Silent_p.V200V|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAATGTTGACTTTGATGC	0.463000													27	85					1.17739e-12	2.27438e-12	0.005443	1	0
ZWINT	11130	broad.mit.edu	37	10	58118214	58118214	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:58118214C>A	ENST00000373944.3	-	8	837	c.799G>T	c.(799-801)Ggt>Tgt	p.G267C	ZWINT_ENST00000318387.2_Missense_Mutation_p.G147C|ZWINT_ENST00000361148.6_Missense_Mutation_p.G220C|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.G267C			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	267					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.G267C(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGTTGTAGACCAACAGCCTTG	0.502000													16	69					1.15088e-07	1.88325e-07	0.004007	1	0
RBFOX1	54715	broad.mit.edu	37	16	7760688	7760688	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:7760688C>A	ENST00000340209.4	+	13	1447	c.1150C>A	c.(1150-1152)Ctt>Att	p.L384I	RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L352I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L400I|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000550418.1_Missense_Mutation_p.L379I|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L379I			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	379					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.L379I(1)|p.L400I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGGTCTCGTTCTTTCTTCATT	0.423000													38	106					3.62531e-18	7.28742e-18	0.004289	1	0
HEATR1	55127	broad.mit.edu	37	1	236730018	236730018	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:236730018G>A	ENST00000366582.3	-	30	4350	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	HEATR1_ENST00000366581.2_Silent_p.L1331L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1412					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.L1412L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAGAATCCAGAGGAATTTCT	0.498000													4	37					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179395805	179395805	+	Silent	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:179395805G>C	ENST00000589042.1	-	358	105761	c.105537C>G	c.(105535-105537)acC>acG	p.T35179T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.T26306T|TTN_ENST00000591111.1_Silent_p.T33538T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.T32611T|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.T26114T|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.T26239T|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T26306T(1)|p.T26114T(1)|p.T32611T(1)|p.T26239T(1)|p.T32609T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACTTTGTGGTGGTCACTT	0.498000													18	380					0	0	0.006122	0	0
ANGPT1	284	broad.mit.edu	37	8	108306234	108306234	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:108306234C>A	ENST00000520734.1	-	5	653	c.368G>T	c.(367-369)gGt>gTt	p.G123V	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G122V|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	323					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G323V(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TACAGTCCAACCTCCCCCATT	0.343000													5	97					0.00198382	0.0023951	0.001984	1	0
EPYC	1833	broad.mit.edu	37	12	91372013	91372013	+	Silent	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:91372013T>A	ENST00000261172.3	-	3	284	c.192A>T	c.(190-192)tcA>tcT	p.S64S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	64					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.G65W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCTGTTCCCTGAAGGCATCA	0.473000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	74					0	0	0.004990	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319630	21319630	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:21319630C>A	ENST00000583088.1	+	3	1871	c.976C>A	c.(976-978)Cgc>Agc	p.R326S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R326S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R326S(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGGGGTCACCGCTTTGAGCC	0.587000										Prostate(3;0.18)			6	179					0.00116845	0.00143697	0.001168	1	0
COL7A1	1294	broad.mit.edu	37	3	48617237	48617237	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:48617237C>A	ENST00000328333.8	-	57	5242	c.5135G>T	c.(5134-5136)gGa>gTa	p.G1712V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1712V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1712	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1712V(1)		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)		GGCTCCAGGTCCTGTGTCTAC	0.582000													5	67					3.59834e-05	4.79778e-05	0.001168	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701419	56701419	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:56701419T>A	ENST00000586855.2	-	5	1578	c.1265A>T	c.(1264-1266)cAc>cTc	p.H422L	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H422L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	422					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H422L(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGGACTCGTGGGCGAACCG	0.567000													4	67					0	0	0.000248	0	0
SYT9	143425	broad.mit.edu	37	11	7324269	7324269	+	Splice_Site	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:7324269G>C	ENST00000318881.6	+	2	382		c.e2-1		SYT9_ENST00000396716.2_Splice_Site	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.?(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTCTTTGCAGATATCTCAGT	0.537000													19	131					0	0	0.001882	0	0
NRG1	3084	broad.mit.edu	37	8	32463156	32463156	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:32463156G>A	ENST00000341377.5	+	3	872	c.355G>A	c.(355-357)Gga>Aga	p.G119R	NRG1_ENST00000356819.4_Missense_Mutation_p.G119R|NRG1_ENST00000520407.1_Missense_Mutation_p.G334R|NRG1_ENST00000519301.1_Missense_Mutation_p.G98R|NRG1_ENST00000521670.1_Missense_Mutation_p.G119R|NRG1_ENST00000338921.4_Missense_Mutation_p.G119R|NRG1_ENST00000523079.1_Missense_Mutation_p.G119R|NRG1_ENST00000287845.5_Missense_Mutation_p.G119R|NRG1_ENST00000287842.3_Missense_Mutation_p.G119R|NRG1_ENST00000287840.5_Missense_Mutation_p.G119R|NRG1_ENST00000405005.2_Missense_Mutation_p.G119R			Q02297	NRG1_HUMAN	neuregulin 1	119	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.G119R(2)|p.G334R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGCAAATTAGGAAATGACAG	0.408000													4	91					0	0	0.000248	0	0
COL5A2	1290	broad.mit.edu	37	2	189904155	189904155	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:189904155C>A	ENST00000374866.3	-	51	4042	c.3768G>T	c.(3766-3768)gcG>gcT	p.A1256A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1256					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.A1256A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CATCAGGAGCCGCCTGATCTT	0.527000													9	49					7.48243e-07	1.16655e-06	0.006214	1	0
PSTK	118672	broad.mit.edu	37	10	124740146	124740146	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:124740146G>A	ENST00000405485.1	+	1	217	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	PSTK_ENST00000368887.3_Missense_Mutation_p.G51S			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	51							ATP binding|kinase activity	p.G51S(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TTGGGCCATCGGTGTTGTCGC	0.716000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	0.000602	0	0
DSG4	147409	broad.mit.edu	37	18	28980905	28980905	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:28980905C>G	ENST00000359747.4	+	10	1368	c.1339C>G	c.(1339-1341)Caa>Gaa	p.Q447E	DSG4_ENST00000308128.4_Missense_Mutation_p.Q447E|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	447	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Q447E(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGAGATACAATTTTCTAG	0.303000													3	81					0	0	0.004672	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063002	9063002	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:9063002G>T	ENST00000382496.5	-	18	3180	c.2515C>A	c.(2515-2517)Cca>Aca	p.P839T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	839	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.P839T(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CACTTACCTGGGCAGGGCAAA	0.512000													22	65					1.85244e-09	3.31931e-09	0.003330	1	0
FTHL17	53940	broad.mit.edu	37	X	31089982	31089982	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:31089982T>A	ENST00000359202.3	-	1	188	c.89A>T	c.(88-90)tAc>tTc	p.Y30F		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	30	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Y30F(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GTAGGAGGTGTAGAGCTCCAG	0.622000													4	81					0	0	0.000248	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785214	149785214	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:149785214G>A	ENST00000331491.1	-	1	22	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	8					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	p.A8V(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGACTTGCGGGCAGTCTGCTT	0.602000													4	50					0	0	0.000602	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526823	86526823	+	Splice_Site	SNP	T	T	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:86526823T>G	ENST00000450689.2	-	19	2869	c.2685_splice	c.e19+1	p.Q895_splice	KIAA1324L_ENST00000297222.6_Splice_Site_p.Q655_splice|KIAA1324L_ENST00000416314.1_Splice_Site_p.Q728_splice|KIAA1324L_ENST00000444627.1_Splice_Site_p.Q824_splice	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	895						integral to membrane		p.Q655P(1)|p.Q895P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATCCCTTACCTGAAATCCTCT	0.468000													5	106					0	0	0.000602	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474394	99474394	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:99474394C>A	ENST00000316368.2	-	1	286	c.263G>T	c.(262-264)gGc>gTc	p.G88V		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G88V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATTTCTTGCCAGATAGGTA	0.463000													16	69					6.94344e-10	1.25553e-09	0.006122	1	0
MAF	4094	broad.mit.edu	37	16	79633711	79633711	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:79633711A>T	ENST00000393350.1	-	1	900	c.89T>A	c.(88-90)tTt>tAt	p.F30Y	MAF_ENST00000326043.4_Missense_Mutation_p.F30Y|MAF_ENST00000569649.1_Missense_Mutation_p.F30Y	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	30					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F30Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TTTCACTTCAAACTTCATCAG	0.587000			T	IGH@	MM								5	62					0	0	0.001984	0	0
TRPM6	140803	broad.mit.edu	37	9	77377968	77377968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:77377968G>A	ENST00000451710.3	-	26	3856	c.3619C>T	c.(3619-3621)Cag>Tag	p.Q1207*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1202*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1207*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1202*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1207*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1207					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1207*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGTCCCACCTGGCTGTCCAAA	0.483000													16	96					0	0	0.004007	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221779	56221779	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:56221779G>A	ENST00000357606.3	-	3	953	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	DNAJC14_ENST00000317287.5_Missense_Mutation_p.R222W|DNAJC14_ENST00000317269.3_Missense_Mutation_p.R222W			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	222					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.R222W(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CGACCCAGCCGATGTCGACCA	0.597000													4	55					0	0	0.000248	0	0
TAAR8	83551	broad.mit.edu	37	6	132874369	132874369	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:132874369G>T	ENST00000275200.1	+	1	538	c.538G>T	c.(538-540)Gta>Tta	p.V180L		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	180						plasma membrane	G-protein coupled receptor activity	p.V180L(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GGAGGAATTAGTAAGTGCTCT	0.453000													51	227					4.78724e-31	9.97762e-31	0.003610	1	0
OR5K1	26339	broad.mit.edu	37	3	98188926	98188926	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:98188926G>T	ENST00000332650.5	+	1	603	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C169F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGTTTTCTGTGGATCGAAT	0.398000													11	303					6.40141e-05	8.33868e-05	0.000978	1	0
SEMA4D	10507	broad.mit.edu	37	9	92002517	92002517	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:92002517C>T	ENST00000450295.1	-	12	1890	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	SEMA4D_ENST00000339861.4_Missense_Mutation_p.D372N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.D372N|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D372N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.D372N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.D372N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D372N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D372N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	372	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.D372N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCCTCGCTGTCGATGCACTGC	0.572000													5	55					0	0	0.001168	0	0
NEFH	4744	broad.mit.edu	37	22	29885226	29885226	+	Missense_Mutation	SNP	C	C	G	rs56916487		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:29885226C>G	ENST00000310624.6	+	4	1630	c.1597C>G	c.(1597-1599)Cca>Gca	p.P533A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	533	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.P533A(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGCCAAGTCCCCAGAGAAGGA	0.557000													4	44					0	0	0.000248	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409612	80409612	+	Silent	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:80409612T>C	ENST00000265080.4	+	15	2410	c.2343T>C	c.(2341-2343)acT>acC	p.T781T	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.T781T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACCACACACTGGTCAGATAC	0.552000													6	62					0	0	0.001984	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43632904	43632904	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:43632904C>A	ENST00000431635.2	-	7	853	c.705G>T	c.(703-705)gtG>gtT	p.V235V	EBNA1BP2_ENST00000236051.2_Silent_p.V180V	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	180					ribosome biogenesis	membrane fraction|nucleolus	protein binding	p.V180V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCCGTTTGCACCTGTGATA	0.418000													14	147					6.31663e-08	1.06442e-07	0.003163	1	0
RFTN2	130132	broad.mit.edu	37	2	198436886	198436886	+	Missense_Mutation	SNP	C	C	G	rs115896530	by1000genomes	TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:198436886C>G	ENST00000295049.3	-	9	1888	c.1352G>C	c.(1351-1353)cGc>cCc	p.R451P		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	451						plasma membrane		p.R451P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGAGAAAGGCGGCACTCCTC	0.527000													5	111					0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220354583	220354583	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:220354583G>C	ENST00000312358.7	+	36	8975	c.8843G>C	c.(8842-8844)aGc>aCc	p.S2948T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2948	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.S2948T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCCCGAAGCTCTCCCAGG	0.657000													3	43					0	0	0.004672	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959336	120959336	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:120959336C>G	ENST00000273666.6	+	14	1653	c.1382C>G	c.(1381-1383)cCa>cGa	p.P461R	STXBP5L_ENST00000492541.1_Missense_Mutation_p.P461R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P461R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P461R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P461R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	461					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.P461R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAAACATATCCAGAAATTATT	0.333000													3	57					0	0	0.000248	0	0
EBF3	253738	broad.mit.edu	37	10	131640445	131640445	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:131640445C>G	ENST00000368648.3	-	13	1352	c.1280G>C	c.(1279-1281)gGc>gCc	p.G427A	EBF3_ENST00000355311.5_Missense_Mutation_p.G436A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	436					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.G427A(1)|p.G436A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGAGTTGACGCCCATCATGCC	0.617000													5	118					0	0	0.001984	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68682307	68682307	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:68682307C>T	ENST00000255078.3	+	6	839	c.728C>T	c.(727-729)cCc>cTc	p.P243L	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	243					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	p.P243L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGCTGCGCCCCCTCCAACATC	0.532000													8	74					0	0	0.004482	0	0
DDB1	1642	broad.mit.edu	37	11	61084039	61084039	+	Splice_Site	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:61084039C>A	ENST00000301764.7	-	11	1623	c.1225_splice	c.e11-1	p.G409_splice	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	409	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.G409V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCATAATCCTGGAACAAG	0.522000								Nucleotide excision repair (NER)					24	105					2.21704e-12	4.2007e-12	0.002780	1	0
SIK2	23235	broad.mit.edu	37	11	111573994	111573994	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:111573994C>G	ENST00000304987.3	+	7	968	c.795C>G	c.(793-795)atC>atG	p.I265M		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	265	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I265M(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAGCCCAAATCAAGGAGCATA	0.443000													11	56					0	0	0.008291	0	0
ARPP21	10777	broad.mit.edu	37	3	35833950	35833950	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:35833950C>A	ENST00000187397.4	+	19	2565	c.2109C>A	c.(2107-2109)aaC>aaA	p.N703K	ARPP21_ENST00000337271.5_Missense_Mutation_p.N684K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.N684K|ARPP21_ENST00000458225.1_Missense_Mutation_p.N704K|ARPP21_ENST00000417925.1_Missense_Mutation_p.N704K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	703	Gln-rich.					cytoplasm	nucleic acid binding	p.N703K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGTCAGAACGTGATAAATA	0.463000													23	137					1.96895e-08	3.37534e-08	0.002780	1	0
MMP26	56547	broad.mit.edu	37	11	5011842	5011842	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:5011842C>A	ENST00000380390.1	+	4	551	c.335C>A	c.(334-336)cCa>cAa	p.P112Q	MMP26_ENST00000300762.1_Missense_Mutation_p.P112Q			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	112					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P112Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCAATTACCCACATGATATG	0.388000													6	77					3.59834e-05	4.79778e-05	0.001168	1	0
MORC1	27136	broad.mit.edu	37	3	108819311	108819311	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:108819311C>A	ENST00000232603.5	-	5	349	c.267G>T	c.(265-267)cgG>cgT	p.R89R	MORC1_ENST00000483760.1_Silent_p.R89R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89R(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGGTTGACAGCCGTTTTTTGG	0.393000													11	121					2.80697e-09	4.94027e-09	0.000978	1	0
SETD2	29072	broad.mit.edu	37	3	47158152	47158152	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:47158152C>A	ENST00000409792.3	-	4	4589	c.4547G>T	c.(4546-4548)tGt>tTt	p.C1516F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1516	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.C1013F(1)|p.C1516F(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTTCCCCACATGCTATTTC	0.353000			"""N, F, S, Mis"""		clear cell renal carcinoma								16	119					2.23348e-06	3.33758e-06	0.004007	1	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	113					0	0	0.000248	0	0
WDR64	128025	broad.mit.edu	37	1	241913018	241913018	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:241913018G>T	ENST00000366552.2	+	13	1941	c.1734G>T	c.(1732-1734)atG>atT	p.M578I	WDR64_ENST00000437684.2_Missense_Mutation_p.M578I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	578								p.M578I(1)|p.M298I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTATCAAAATGATCCAGGTTT	0.502000													16	96					3.52763e-06	5.15477e-06	0.004990	1	0
SSX9	280660	broad.mit.edu	37	X	48159066	48159066	+	Splice_Site	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:48159066C>G	ENST00000376909.1	-	6	529		c.e6+1		SSX9_ENST00000407081.2_Splice_Site														p.?(1)		breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTTCCTCTTCCCAGATGCCTT	0.527000													35	252					0	0	0.003755	0	0
ABCB11	8647	broad.mit.edu	37	2	169869807	169869807	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:169869807T>C	ENST00000263817.6	-	5	488	c.364A>G	c.(364-366)Aac>Gac	p.N122D		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	122	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.N122D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTGTCATGTTCTGGTTGAGG	0.343000													89	280					0	0	0.003610	0	0
CHUK	1147	broad.mit.edu	37	10	101977791	101977791	+	Silent	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:101977791T>A	ENST00000370397.7	-	9	980	c.894A>T	c.(892-894)ccA>ccT	p.P298P		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	298	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.P298P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CAAAACATCTTGGCTGCTTCA	0.388000													7	40					0	0	0.004482	0	0
MAP3K5	4217	broad.mit.edu	37	6	137018358	137018358	+	Splice_Site	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:137018358T>A	ENST00000359015.4	-	5	1334	c.975_splice	c.e5+1	p.Q325_splice		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	325					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.Q325L(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTCTCACCTGGATATCTCT	0.393000													7	50					0	0	0.001984	0	0
MROH9	80133	broad.mit.edu	37	1	170961380	170961380	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:170961380G>C	ENST00000367759.4	+	12	1258	c.1104G>C	c.(1102-1104)ttG>ttC	p.L368F	MROH9_ENST00000367758.3_Missense_Mutation_p.L368F	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.L368F(2)									CAATCTTATTGATACTGAAAG	0.502000													8	95					0	0	0.003080	0	0
ZNF277	11179	broad.mit.edu	37	7	111970197	111970197	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:111970197A>G	ENST00000361822.3	+	7	856	c.727A>G	c.(727-729)Atg>Gtg	p.M243V	ZNF277_ENST00000450657.1_Missense_Mutation_p.M243V|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	243						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M243V(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TAAAGATCACATGAGGAAAAA	0.323000													7	39					0	0	0.003080	0	0
AGGF1	55109	broad.mit.edu	37	5	76342310	76342310	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:76342310A>G	ENST00000312916.7	+	6	1391	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	337					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	p.T337A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CACTGTTCCAACTAGTGGAAA	0.363000													43	146					0	0	0.002222	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910104	101910104	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:101910104C>A	ENST00000537097.1	+	6	2076	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	GPRASP1_ENST00000361600.5_Silent_p.A421A|GPRASP1_ENST00000415986.1_Silent_p.A421A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.A421A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	421						cytoplasm	protein binding	p.A421A(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGATGAAGCCAGCATAGAGT	0.552000													21	88					1.96292e-10	3.56568e-10	0.001523	1	0
CUBN	8029	broad.mit.edu	37	10	16975090	16975090	+	Silent	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:16975090T>A	ENST00000377833.4	-	40	6185	c.6120A>T	c.(6118-6120)cgA>cgT	p.R2040R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2040	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2040R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCACCATCTCGTATCACAA	0.458000													4	71					0	0	0.000602	0	0
ASTN1	460	broad.mit.edu	37	1	176845741	176845741	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:176845741C>A	ENST00000367654.2	-	21	3432	c.3419G>T	c.(3418-3420)cGg>cTg	p.R1140L	ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132L|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132L|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132L			O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.R1132L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGGAGCGCCGTCCTGTGTT	0.572000													8	49					1.12685e-05	1.61095e-05	0.004482	1	0
WDR44	54521	broad.mit.edu	37	X	117543510	117543510	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:117543510A>T	ENST00000254029.3	+	11	1987	c.1592A>T	c.(1591-1593)cAa>cTa	p.Q531L	WDR44_ENST00000371822.5_Missense_Mutation_p.Q506L|WDR44_ENST00000371825.3_Missense_Mutation_p.Q531L	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	531						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.Q531L(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCAGCTGGACAAGACAATGTA	0.333000													5	183					0	0	0.000602	0	0
FRS3	10817	broad.mit.edu	37	6	41740639	41740639	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:41740639C>A	ENST00000373018.3	-	5	563	c.312G>T	c.(310-312)ctG>ctT	p.L104L	FRS3_ENST00000259748.2_Silent_p.L104L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	104	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.L104L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCACTGCATCAGATCCTGAA	0.527000													5	76					1.23904e-05	1.73993e-05	0.000602	1	0
MUC17	140453	broad.mit.edu	37	7	100680748	100680748	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:100680748C>T	ENST00000306151.4	+	3	6115	c.6051C>T	c.(6049-6051)acC>acT	p.T2017T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2017	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2017T(1)		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)					CTCCTGCCACCACTTCTACTG	0.522000													36	298					0	0	0.003610	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440287	104440287	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:104440287G>T	ENST00000372582.1	+	3	969	c.213G>T	c.(211-213)ggG>ggT	p.G71G	IL1RAPL2_ENST00000344799.4_Silent_p.G71G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	71	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.G71G(1)		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						AGAGCACTGGGCTCAGGCTTA	0.448000													26	91					3.28513e-13	6.37701e-13	0.003954	1	0
LRRN3	54674	broad.mit.edu	37	7	110763529	110763529	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:110763529G>C	ENST00000451085.1	+	4	1747	c.701G>C	c.(700-702)gGa>gCa	p.G234A	LRRN3_ENST00000308478.5_Missense_Mutation_p.G234A|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.G234A	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	234						integral to membrane		p.G234A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GCCTTGGTTGGACTGGAAAAC	0.363000													21	70					0	0	0.008871	0	0
NETO1	81832	broad.mit.edu	37	18	70417390	70417390	+	Nonsense_Mutation	SNP	G	G	T	rs139202022	by1000genomes	TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:70417390G>T	ENST00000327305.6	-	9	2105	c.1448C>A	c.(1447-1449)tCg>tAg	p.S483*	NETO1_ENST00000299430.2_Nonsense_Mutation_p.S482*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.S483*	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	483					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S483*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCATCTTGCGAGTAGCTGTG	0.502000													10	59					0.000442599	0.000556411	0.006214	1	0
GALNT8	26290	broad.mit.edu	37	12	4835766	4835766	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:4835766G>A	ENST00000252318.2	+	2	617	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	94						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCGAAAGATGAAGTACGCCC	0.443000													5	34					0	0	0.000602	0	0
SORCS3	22986	broad.mit.edu	37	10	106865208	106865208	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:106865208G>T	ENST00000369701.3	+	7	1374	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	383						integral to membrane	neuropeptide receptor activity	p.G383W(1)		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)		AACTAGAAGTGGGCCTTTTGC	0.473000													6	128					3.59834e-05	4.79778e-05	0.001168	1	0
KIF19	124602	broad.mit.edu	37	17	72338032	72338032	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:72338032C>A	ENST00000389916.4	+	3	276	c.138C>A	c.(136-138)gaC>gaA	p.D46E		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	46	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D46E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TTCTCATGGACCCAATGGAGG	0.622000													18	93					7.07596e-05	9.18715e-05	0.006122	1	0
PPM1L	151742	broad.mit.edu	37	3	160786690	160786690	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:160786690C>T	ENST00000498165.1	+	4	929	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.N97N|PPM1L_ENST00000295839.9_Silent_p.N149N	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	276	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.N97N(1)|p.N276N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAATCTCAACGTGGTCATCC	0.517000													5	77					0	0	0.000602	0	0
PMS1	5378	broad.mit.edu	37	2	190660540	190660540	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:190660540G>T	ENST00000441310.2	+	3	411	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	PMS1_ENST00000409823.3_Missense_Mutation_p.G60C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.G60C|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Missense_Mutation_p.G60C|PMS1_ENST00000374826.4_Missense_Mutation_p.G60C|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	60					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.G60C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TAACGGGGAGGGTATCAAGGC	0.328000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					7	72					2.0095e-06	3.01425e-06	0.001984	1	0
SPAM1	6677	broad.mit.edu	37	7	123594320	123594320	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:123594320C>T	ENST00000340011.5	+	3	1053	c.696C>T	c.(694-696)ccC>ccT	p.P232P	SPAM1_ENST00000402183.2_Silent_p.P232P|SPAM1_ENST00000439500.1_Silent_p.P232P|SPAM1_ENST00000460182.1_Silent_p.P232P|SPAM1_ENST00000223028.7_Silent_p.P232P	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	232					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.P232P(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATAAGAAACCCGGTTACAATG	0.368000													17	106					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216172314	216172314	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:216172314C>G	ENST00000366943.2	-	34	6958	c.6572G>C	c.(6571-6573)aGt>aCt	p.S2191T	USH2A_ENST00000307340.3_Missense_Mutation_p.S2191T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2191	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S2191T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAGATGACACTCCAAATTGT	0.343000										HNSCC(13;0.011)			4	96					0	0	0.000248	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301283	29301283	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:29301283G>T	ENST00000378993.1	+	3	984	c.311G>T	c.(310-312)tGg>tTg	p.W104L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.W104L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	104	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACTCCATTTGGTTCCGGCCA	0.453000													7	87					3.09899e-07	5.00897e-07	0.004482	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625022	43625022	+	Missense_Mutation	SNP	G	G	T	rs150951585	by1000genomes	TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:43625022G>T	ENST00000332857.6	-	4	3693	c.3665C>A	c.(3664-3666)gCg>gAg	p.A1222E		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGCATGGTGCGCATGGCAAAG	0.493000													27	551					1.13719e-10	2.09455e-10	0.008361	1	0
TRBV6-5	28602	broad.mit.edu	37	7	142180781	142180781	+	RNA	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:142180781G>T	ENST00000390368.2	-	0	143																											GGAATTTTGGGGTCTGAGTGA	0.522000													24	127					5.35356e-11	9.90658e-11	0.002780	1	0
MYH9	4627	broad.mit.edu	37	22	36684363	36684363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:36684363C>A	ENST00000216181.5	-	34	5097	c.4867G>T	c.(4867-4869)Gag>Tag	p.E1623*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1623					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E1623*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATGTGCGCCTCCAGGTCCTTC	0.657000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	74					0.000673444	0.000838628	0.008291	1	0
EPHA5	2044	broad.mit.edu	37	4	66230911	66230911	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:66230911C>T	ENST00000273854.3	-	12	2660	c.2060G>A	c.(2059-2061)gGt>gAt	p.G687D	EPHA5_ENST00000511294.1_Missense_Mutation_p.G688D|EPHA5_ENST00000432638.2_Missense_Mutation_p.G524D|EPHA5_ENST00000354839.4_Missense_Mutation_p.G665D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	687	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.G687D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACAAACTTCACCAAATTCACC	0.353000										TSP Lung(17;0.13)			7	94					0	0	0.001984	0	0
ITGAM	3684	broad.mit.edu	37	16	31283276	31283276	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:31283276G>T	ENST00000544665.3	+	7	738	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W	ITGAM_ENST00000287497.8_Missense_Mutation_p.G223W	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	223	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G223W(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCAGCTGCTTGGGCGGACACA	0.512000													10	117					3.86212e-05	5.08106e-05	0.008291	1	0
KMT2C	58508	broad.mit.edu	37	7	152008931	152008931	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:152008931C>G	ENST00000355193.2	-	5	909	c.691G>C	c.(691-693)Gtt>Ctt	p.V231L	KMT2C_ENST00000262189.6_Missense_Mutation_p.V231L					lysine (K)-specific methyltransferase 2C									p.V231L(2)									GGAAGCCCAACCAGACTGAGT	0.413000													16	89					0	0	0.004990	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32712989	32712989	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:32712989G>A	ENST00000374940.3	+	2	238	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	46	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.G46S(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGTCCCTCTGGCCAGTACAC	0.498000													27	140					0	0	0.006320	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525866	176525866	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:176525866G>A	ENST00000367662.3	+	2	1572	c.408G>A	c.(406-408)ggG>ggA	p.G136G	PAPPA2_ENST00000367661.3_Silent_p.G136G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	136					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G136G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCCTATTGGGCAATCTGAGC	0.557000													5	155					0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169511383	169511383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:169511383C>T	ENST00000367796.3	-	13	3161	c.2960G>A	c.(2959-2961)tGg>tAg	p.W987*	F5_ENST00000367797.3_Nonsense_Mutation_p.W982*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	982	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.W982*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTTTCTCCCCAAGCACGTGA	0.463000													12	206					0	0	0.000978	0	0
PSME4	23198	broad.mit.edu	37	2	54122797	54122797	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:54122797A>T	ENST00000404125.1	-	33	3820	c.3765T>A	c.(3763-3765)acT>acA	p.T1255T	PSME4_ENST00000421748.2_Silent_p.T399T	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1141T(1)|p.T1255T(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTTGGTATAGTTTTGCTGT	0.403000													11	195					0	0	0.000978	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	56					0	0	0.000602	0	0
GREB1	9687	broad.mit.edu	37	2	11755257	11755257	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:11755257T>A	ENST00000381486.2	+	20	3463	c.3163T>A	c.(3163-3165)Tgc>Agc	p.C1055S	GREB1_ENST00000234142.5_Missense_Mutation_p.C1055S|GREB1_ENST00000396123.1_Missense_Mutation_p.C53S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1055						integral to membrane		p.C1055S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAACTCCTCCTGCTTGGTGAG	0.542000													4	61					0	0	0.000602	0	0
KRBA1	84626	broad.mit.edu	37	7	149425649	149425649	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:149425649G>A	ENST00000255992.10	+	12	1909	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.E504K|KRBA1_ENST00000319551.8_Missense_Mutation_p.E504K	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	504								p.E504K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGGGTCTGGAGAATTGTCT	0.582000													9	152					0	0	0.001368	0	0
BAI3	577	broad.mit.edu	37	6	69349092	69349092	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:69349092G>T	ENST00000370598.1	+	3	1346	c.525G>T	c.(523-525)ttG>ttT	p.L175F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	175					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L175F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTACTTGGTTGGAGAGCTGCT	0.423000													14	82					0.00316338	0.00379606	0.003163	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561297	11561297	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:11561297G>T	ENST00000294484.6	+	2	386	c.248G>T	c.(247-249)aGc>aTc	p.S83I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S83I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	83					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.S300I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTGGGCTGCAGCATCCCCATG	0.612000													17	80					1.56452e-12	3.00753e-12	0.007413	1	0
PRPF4	9128	broad.mit.edu	37	9	116041389	116041389	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:116041389G>T	ENST00000374199.4	+	3	771	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	PRPF4_ENST00000374198.4_Missense_Mutation_p.G125C|PRPF4_ENST00000488937.1_3'UTR			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	125						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	p.G125C(1)|p.G125S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TTTTGGAGAGGGTCCTGCTGA	0.418000													9	59					3.09899e-07	5.00897e-07	0.004482	1	0
GALNTL6	442117	broad.mit.edu	37	4	172735814	172735814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:172735814G>A	ENST00000506823.1	+	2	740	c.83G>A	c.(82-84)tGg>tAg	p.W28*	GALNTL6_ENST00000511251.1_Nonsense_Mutation_p.W28*	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	28						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.W28*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTGGTCTCTGGTCTCTGTAC	0.483000													4	43					0	0	0.000248	0	0
TRIM6	117854	broad.mit.edu	37	11	5624904	5624904	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:5624904G>A	ENST00000380097.3	+	2	688	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	TRIM6_ENST00000380107.1_Missense_Mutation_p.R95Q|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000278302.5_Missense_Mutation_p.R121Q|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R149Q|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000507320.1_5'UTR|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6									p.R149Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTTGTGAGCGGTCTCAGGAG	0.557000													6	86					0	0	0.001984	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048020	58048020	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:58048020G>T	ENST00000556826.1	-	4	955	c.719C>A	c.(718-720)aCg>aAg	p.T240K	SLC35F4_ENST00000554729.1_Missense_Mutation_p.T117K|SLC35F4_ENST00000339762.6_Missense_Mutation_p.T276K|RP11-409I10.2_ENST00000555600.1_RNA	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.T276K(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAGACATCCGTGGCCGTCAG	0.428000													12	32					1.08611e-07	1.79208e-07	0.000978	1	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:101510519G>A	ENST00000392979.3	+	24	2769	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	ANO4_ENST00000392977.3_Missense_Mutation_p.R838Q|ANO4_ENST00000550015.1_Missense_Mutation_p.R358Q|ANO4_ENST00000299222.9_Missense_Mutation_p.R358Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	838						chloride channel complex	chloride channel activity	p.R803Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)			5	145					0	0	0.000602	0	0
AKAP13	11214	broad.mit.edu	37	15	86076960	86076960	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:86076960T>G	ENST00000394518.2	+	4	422	c.327T>G	c.(325-327)aaT>aaG	p.N109K	AKAP13_ENST00000361243.2_Missense_Mutation_p.N109K|AKAP13_ENST00000560302.1_Missense_Mutation_p.N109K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	109					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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.N109K(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGCTGGAAATCAGCAGGCTT	0.498000													5	106					0	0	0.000602	0	0
OR5L2	26338	broad.mit.edu	37	11	55594859	55594859	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:55594859C>A	ENST00000378397.1	+	1	165	c.165C>A	c.(163-165)ctC>ctA	p.L55L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTCTCGGCTCCACACCCCCG	0.468000										HNSCC(27;0.073)			20	309					2.4624e-09	4.37269e-09	0.008871	1	0
TENM3	55714	broad.mit.edu	37	4	183652148	183652148	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:183652148C>A	ENST00000511685.1	+	16	2946	c.2823C>A	c.(2821-2823)acC>acA	p.T941T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.T941T					teneurin transmembrane protein 3									p.L942I(1)									TGATGGATACCCTAGTCATGA	0.428000													7	62					2.17888e-05	3.0064e-05	0.006214	1	0
ITGA10	8515	broad.mit.edu	37	1	145536120	145536120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:145536120C>T	ENST00000369304.3	+	17	2387	c.2212C>T	c.(2212-2214)Cag>Tag	p.Q738*	ITGA10_ENST00000539363.1_Nonsense_Mutation_p.Q595*|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.Q607*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	738					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.Q738*(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTTGTGAGCAGCTACACTT	0.552000													23	70					0	0	0.002780	0	0
OR4P4	81300	broad.mit.edu	37	11	55406406	55406406	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:55406406C>A	ENST00000314612.2	+	1	573	c.573C>A	c.(571-573)caC>caA	p.H191Q		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H191P(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTAATATACACATGATAGGTC	0.358000													9	43					7.48243e-07	1.16655e-06	0.006214	1	0
VPS13B	157680	broad.mit.edu	37	8	100520069	100520069	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:100520069G>T	ENST00000358544.2	+	28	4340	c.4229G>T	c.(4228-4230)aGa>aTa	p.R1410I	VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1410					protein transport			p.R1410I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGCTGAACAGACGCACCTTG	0.463000													7	81					2.0095e-06	3.01425e-06	0.001984	1	0
PAK1	5058	broad.mit.edu	37	11	77051741	77051741	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:77051741C>A	ENST00000356341.3	-	11	1597	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Missense_Mutation_p.V356L|PAK1_ENST00000528203.1_Missense_Mutation_p.V258L|PAK1_ENST00000278568.4_Missense_Mutation_p.V356L	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	356	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	p.V356L(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GTTTCTGTCACCACATCTGTC	0.507000													40	240					5.44703e-19	1.10617e-18	0.002222	1	0
MRGBP	55257	broad.mit.edu	37	20	61430905	61430905	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr20:61430905C>G	ENST00000370487.3	+	5	596	c.525C>G	c.(523-525)gaC>gaG	p.D175E		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.D175E(1)									AAGGCGCAGACAAGCGGAAGC	0.552000													4	84					0	0	0.000248	0	0
POM121L12	285877	broad.mit.edu	37	7	53104090	53104090	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:53104090C>A	ENST00000408890.4	+	1	742	c.726C>A	c.(724-726)ccC>ccA	p.P242P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	242								p.P242P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCGGCCCCTGGAGCCTCA	0.647000													6	43					2.0095e-06	3.01425e-06	0.001984	1	0
SPATA18	132671	broad.mit.edu	37	4	52948665	52948665	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:52948665A>T	ENST00000295213.4	+	10	1842	c.1468A>T	c.(1468-1470)Aga>Tga	p.R490*	SPATA18_ENST00000419395.2_Nonsense_Mutation_p.R458*	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	490					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.R490*(2)		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)			TGTCACCAGGAGAGGGGCTTT	0.453000													8	138					0	0	0.006214	0	0
PEX26	55670	broad.mit.edu	37	22	18562679	18562679	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:18562679C>A	ENST00000329627.6	+	3	476	c.270C>A	c.(268-270)atC>atA	p.I90I	PEX26_ENST00000428061.2_Silent_p.I90I|PEX26_ENST00000399744.3_Silent_p.I90I	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	90					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	p.I90I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGTGGGGATCCAGGCCCTGG	0.527000													23	104					2.39556e-15	4.76705e-15	0.002780	1	0
OR4P4	81300	broad.mit.edu	37	11	55406405	55406405	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:55406405A>C	ENST00000314612.2	+	1	572	c.572A>C	c.(571-573)cAc>cCc	p.H191P		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H191P(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCTAATATACACATGATAGGT	0.353000													9	44					0	0	0.004482	0	0
VPS13C	54832	broad.mit.edu	37	15	62302683	62302683	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:62302683C>A	ENST00000261517.5	-	13	1072	c.999G>T	c.(997-999)ctG>ctT	p.L333L	VPS13C_ENST00000395896.4_Silent_p.L333L|VPS13C_ENST00000395898.3_Silent_p.L290L|VPS13C_ENST00000249837.3_Silent_p.L290L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	333					protein localization			p.L333L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAGGTTTGGTCAGTTCAATGG	0.383000													7	104					0.00307968	0.00370685	0.003080	1	0
MFI2	4241	broad.mit.edu	37	3	196749841	196749841	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:196749841T>A	ENST00000296350.5	-	5	744	c.631A>T	c.(631-633)Agc>Tgc	p.S211C	MFI2_ENST00000296351.4_Missense_Mutation_p.S211C	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	211	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	p.S211C(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AAGGCCCCGCTGTAGTCGTAG	0.627000													5	93					0	0	0.000602	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								8	22					0	0	0.006214	0	0
ATIC	471	broad.mit.edu	37	2	216214301	216214301	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:216214301G>T	ENST00000435675.1	+	15	2090	c.1699G>T	c.(1699-1701)Gac>Tac	p.D567Y	ATIC_ENST00000236959.9_Missense_Mutation_p.D568Y|ATIC_ENST00000540518.1_Missense_Mutation_p.D509Y			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	568					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.D568Y(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TTCTGCTGCTGACAAAGTTGT	0.473000			T	ALK	ALCL								5	111					1.024e-07	1.71824e-07	0.000602	1	0
HOXA9	3205	broad.mit.edu	37	7	27204508	27204508	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:27204508G>C	ENST00000343483.6	-	1	641	c.569C>G	c.(568-570)cCc>cGc	p.P190R	HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.P30R|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	190							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P190R(1)		central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GGGATCGATGGGGGGCTTGTC	0.582000			T	"""NUP98, MSI2"""	AML*								11	55					0	0	0.001855	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518100	84518100	+	RNA	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:84518100G>A	ENST00000331369.5	+	0	294																											TTCATTGGAGGTGTCACTGGA	0.502000													8	141					0	0	0.008291	0	0
PRPS2	5634	broad.mit.edu	37	X	12828215	12828215	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:12828215C>A	ENST00000380668.5	+	4	608	c.480C>A	c.(478-480)gcC>gcA	p.A160A	PRPS2_ENST00000489404.1_Silent_p.A160A|PRPS2_ENST00000398491.2_Silent_p.A163A	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	160					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.A160A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAAACATTGCCGAGTGGAAGA	0.468000													9	119					1.76689e-08	3.04213e-08	0.006214	1	0
PDZRN3	23024	broad.mit.edu	37	3	73651529	73651529	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:73651529C>A	ENST00000263666.4	-	3	1008	c.894G>T	c.(892-894)ctG>ctT	p.L298L	PDZRN3_ENST00000308537.4_Silent_p.L298L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	298	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding	p.L298L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATGAATTTGCAGGCCTCCTT	0.433000													14	243					6.31663e-08	1.06442e-07	0.003163	1	0
PPP1R15B	84919	broad.mit.edu	37	1	204379882	204379882	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:204379882A>T	ENST00000367188.4	-	1	1037	c.658T>A	c.(658-660)Tcc>Acc	p.S220T	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	220					regulation of translation			p.S220T(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AGCAAATAGGATACCACACTG	0.498000													6	113					0	0	0.001984	0	0
LRRC66	339977	broad.mit.edu	37	4	52862092	52862092	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:52862092C>A	ENST00000343457.3	-	4	1102	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	366						integral to membrane		p.G366C(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTTTTTGCCGGCAGCCTGC	0.592000													3	37					0.004672	0.00548995	0.004672	1	0
FAM178A	55719	broad.mit.edu	37	10	102683760	102683760	+	Silent	SNP	A	A	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:102683760A>G	ENST00000238961.3	+	5	1150	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	FAM178A_ENST00000370269.3_Silent_p.E334E|FAM178A_ENST00000370271.3_Silent_p.E334E	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	334								p.E334E(1)									AATTCCCTGAAAAAAGAAAAA	0.348000													4	31					0	0	0.000248	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111737	64111737	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:64111737C>G	ENST00000356786.5	+	14	1768	c.1724C>G	c.(1723-1725)tCc>tGc	p.S575C	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	575					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.S575C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGACTGGTCCCCGCAAGAG	0.642000													4	44					0	0	0.000248	0	0
EPHB6	2051	broad.mit.edu	37	7	142564758	142564758	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:142564758G>T	ENST00000392957.2	+	11	2469	c.1682G>T	c.(1681-1683)cGg>cTg	p.R561L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R561L|EPHB6_ENST00000411471.2_Missense_Mutation_p.R284L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	561	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R546L(1)		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)					TTCCAGGTGCGGGCCCGGACT	0.622000													8	54					0.00448238	0.0053304	0.004482	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36057670	36057670	+	Missense_Mutation	SNP	G	G	C	rs144816501		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:36057670G>C	ENST00000315571.5	+	2	85	c.64G>C	c.(64-66)Ggg>Cgg	p.G22R	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	22						integral to membrane	receptor activity	p.G22R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GCTGCTCCCCGGGAACAACTT	0.597000													3	57					0	0	0.004672	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765783	27765783	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:27765783G>C	ENST00000451261.2	+	5	1170	c.771G>C	c.(769-771)tgG>tgC	p.W257C		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.W224C(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGGGACTGGGTGCGGCAGA	0.517000													7	28					0	0	0.001984	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127972	117127972	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:117127972C>G	ENST00000310357.3	-	3	917	c.896G>C	c.(895-897)tGg>tCg	p.W299S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.W299S|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	299					response to amino acid stimulus		G-protein coupled receptor activity	p.W299S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTAGCAATCCACATCTTATT	0.353000													5	73					0	0	0.000602	0	0
JAK3	3718	broad.mit.edu	37	19	17942109	17942109	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:17942109C>A	ENST00000458235.1	-	21	3005	c.2906G>T	c.(2905-2907)gGc>gTc	p.G969V	JAK3_ENST00000534444.1_Missense_Mutation_p.G969V|JAK3_ENST00000527670.1_Missense_Mutation_p.G969V	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	969	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G969V(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTTAGCTAGGCCGAAGTCAGC	0.657000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								11	98					0.00136819	0.00167224	0.001368	1	0
ZNF260	339324	broad.mit.edu	37	19	37005826	37005826	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:37005826G>A	ENST00000523638.1	-	3	1436	c.315C>T	c.(313-315)caC>caT	p.H105H	ZNF260_ENST00000588993.1_Silent_p.H105H|ZNF260_ENST00000592282.1_Silent_p.H105H|ZNF260_ENST00000593142.1_Silent_p.H105H	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	105					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H105H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TCTCTCCAGTGTGATGTTTCT	0.378000													10	148					0	0	0.008291	0	0
ACTG2	72	broad.mit.edu	37	2	74129498	74129498	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:74129498G>T	ENST00000409624.1	+	4	781	c.138G>T	c.(136-138)gtG>gtT	p.V46V	ACTG2_ENST00000409918.1_Silent_p.V46V|ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Silent_p.V46V			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	46					muscle contraction	cytoskeleton|cytosol	ATP binding	p.G47*(1)		large_intestine(3)|lung(14)|skin(1)	18						GTGTGATGGTGGGAATGGGCC	0.498000													5	56					5.9392e-07	9.44547e-07	0.001168	1	0
OSTN	344901	broad.mit.edu	37	3	190967879	190967879	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:190967879G>C	ENST00000339051.1	+	3	371	c.371G>C	c.(370-372)gGt>gCt	p.G124A	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	124					cell differentiation|multicellular organismal development|ossification		hormone activity	p.G124A(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GATCGGATTGGTAGAAACCGG	0.353000													7	105					0	0	0.006214	0	0
MEFV	4210	broad.mit.edu	37	16	3299593	3299593	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:3299593G>T	ENST00000219596.1	-	3	1137	c.1098C>A	c.(1096-1098)agC>agA	p.S366R	MEFV_ENST00000339854.4_Missense_Mutation_p.S186R|MEFV_ENST00000541159.1_Missense_Mutation_p.S155R|MEFV_ENST00000536379.1_Missense_Mutation_p.S155R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	366					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S366R(1)|p.S155R(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGGGGCTTAGGCTTCCCGGGC	0.647000													12	23					4.3838e-07	7.05685e-07	0.001855	1	0
ZAN	7455	broad.mit.edu	37	7	100388611	100388611	+	RNA	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:100388611G>T	ENST00000542585.1	+	0	7550				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.G2468*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCTGTGCGGAAACTACGA	0.552000													4	10					2.56e-06	3.78269e-06	0.000248	1	0
GPR112	139378	broad.mit.edu	37	X	135430312	135430312	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:135430312G>T	ENST00000394143.1	+	6	4738	c.4447G>T	c.(4447-4449)Gac>Tac	p.D1483Y	GPR112_ENST00000394141.1_Missense_Mutation_p.D1278Y|GPR112_ENST00000412101.1_Missense_Mutation_p.D1278Y|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420Y|GPR112_ENST00000370652.1_Missense_Mutation_p.D1483Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1483Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTCTCCGACAGGATCAC	0.433000													19	233					3.57192e-18	7.21674e-18	0.006122	1	0
SLC12A9	56996	broad.mit.edu	37	7	100457848	100457848	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:100457848G>A	ENST00000354161.3	+	9	1337	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	SLC12A9_ENST00000415287.1_Silent_p.L315L|SLC12A9_ENST00000540482.1_Silent_p.L404L|SLC12A9_ENST00000428758.1_Silent_p.L404L|SLC12A9_ENST00000275729.3_Silent_p.L315L|SLC12A9_ENST00000475623.1_3'UTR	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	404						integral to membrane|plasma membrane	cation:chloride symporter activity	p.L404L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTGGGGCCTGGTGCAGGTGA	0.567000													8	37					0	0	0.003080	0	0
P2RX3	5024	broad.mit.edu	37	11	57114033	57114033	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:57114033C>T	ENST00000263314.2	+	2	169	c.135C>T	c.(133-135)caC>caT	p.H45H		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	45					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.H45H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TTTTCTTGCACGAGAAGGCTT	0.547000													5	53					0	0	0.000602	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21762860	21762860	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:21762860C>T	ENST00000206660.6	+	2	110	c.110C>T	c.(109-111)cCc>cTc	p.P37L	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P37L|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P37L|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P37L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	37					response to stimulus|visual perception	cilium		p.P37L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACTCAACCACCCTTGAGCAGG	0.418000													9	55					0	0	0.008291	0	0
NAV3	89795	broad.mit.edu	37	12	78225279	78225279	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:78225279C>A	ENST00000397909.2	+	1	211	c.38C>A	c.(37-39)cCa>cAa	p.P13Q	NAV3_ENST00000536525.2_Missense_Mutation_p.P13Q|NAV3_ENST00000266692.7_Missense_Mutation_p.P13Q|NAV3_ENST00000228327.6_Missense_Mutation_p.P13Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	13						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P13Q(1)		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						CTGAGGCAGCCAGCTGTTGGG	0.458000										HNSCC(70;0.22)			52	223					6.03219e-31	1.25065e-30	0.003610	1	0
MYPN	84665	broad.mit.edu	37	10	69954182	69954182	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:69954182A>T	ENST00000358913.5	+	14	3476	c.2988A>T	c.(2986-2988)cgA>cgT	p.R996R	MYPN_ENST00000540630.1_Silent_p.R996R|MYPN_ENST00000354393.2_Silent_p.R721R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	996	Ig-like 3.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.R996R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAATGAGGCGAGAAGGAGATG	0.453000													6	26					0	0	0.001984	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259256	147259256	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:147259256T>A	ENST00000361727.3	+	12	2320	c.1804T>A	c.(1804-1806)Tac>Aac	p.Y602N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	602	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Y602N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTGAAGCCTACAAACACCT	0.453000										HNSCC(39;0.1)			8	60					0	0	0.003080	0	0
SLC24A5	283652	broad.mit.edu	37	15	48414087	48414087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:48414087C>A	ENST00000482911.2	+	2	196	c.155C>A	c.(154-156)tCg>tAg	p.S52*	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000341459.3_Nonsense_Mutation_p.S52*			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.S52L(1)|p.S52*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCTCCATCATCGGAGTTTCCC	0.423000													6	117					3.59834e-05	4.79778e-05	0.001168	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829427	146829427	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:146829427C>A	ENST00000361727.3	+	8	1690	c.1174C>A	c.(1174-1176)Cag>Aag	p.Q392K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	392					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q392K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACGGCTTAACCAGGACCTGTT	0.468000										HNSCC(39;0.1)			21	130					2.4624e-09	4.37269e-09	0.008871	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966757	41966757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:41966757G>T	ENST00000298919.7	+	10	1784	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E726*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E468*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	726	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.E468*(1)|p.E726*(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACATCATGGAGCATCCAGA	0.473000													13	134					1.02788e-11	1.91099e-11	0.004990	1	0
ADCY4	196883	broad.mit.edu	37	14	24793584	24793584	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:24793584C>A	ENST00000310677.4	-	16	1950	c.1837G>T	c.(1837-1839)Gcc>Tcc	p.A613S	ADCY4_ENST00000554068.2_Missense_Mutation_p.A613S|ADCY4_ENST00000418030.2_Missense_Mutation_p.A613S|ADCY4_ENST00000396747.3_Missense_Mutation_p.A306S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	613					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.A613S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TACGTGATGGCCAGAGCTGGG	0.557000													6	33					0.00116845	0.00143697	0.001168	1	0
LCTL	197021	broad.mit.edu	37	15	66857164	66857164	+	Silent	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:66857164G>T	ENST00000341509.5	-	2	263	c.132C>A	c.(130-132)ggC>ggA	p.G44G	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	44					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G44G(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACTGCCCACGCCCCAGGAGA	0.662000													8	62					1.12685e-05	1.61095e-05	0.004482	1	0
OR4A5	81318	broad.mit.edu	37	11	51412225	51412225	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:51412225C>T	ENST00000319760.6	-	1	223	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M57I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGAAGAAATACATTGGGGAAC	0.403000													4	61					0	0	0.000248	0	0
LUZP2	338645	broad.mit.edu	37	11	25098875	25098875	+	Splice_Site	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:25098875G>A	ENST00000533227.1	+	11	888	c.600_splice	c.e11-1	p.E201_splice	LUZP2_ENST00000336930.6_Splice_Site_p.E287_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	287						extracellular region		p.E287K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACTTTTGTAGGAGGGCAGACC	0.408000													9	156					0	0	0.004482	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830955	130830955	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:130830955C>A	ENST00000245255.3	+	5	629	c.357C>A	c.(355-357)ttC>ttA	p.F119L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	119					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.F119L(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTAACCATTTCCGGCTGACAT	0.393000													12	39					3.07112e-06	4.50431e-06	0.000978	1	0
MAP2K3	5606	broad.mit.edu	37	17	21215469	21215469	+	Missense_Mutation	SNP	C	C	A	rs71371053		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:21215469C>A	ENST00000342679.4	+	10	1039	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	MAP2K3_ENST00000316920.6_Missense_Mutation_p.L235M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.L235M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	264	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L268M(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GATGGCCATCCTGCGGTTCCC	0.682000													5	33					0.00198382	0.0023951	0.001984	1	0
COL6A5	256076	broad.mit.edu	37	3	130095427	130095427	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:130095427G>T	ENST00000265379.6	+	3	909	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L	COL6A5_ENST00000432398.2_Missense_Mutation_p.V139L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	139	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.V139L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCCAATTTTGGTGGTCCTGGC	0.532000													3	22					0.004672	0.00548995	0.004672	1	0
TENM3	55714	broad.mit.edu	37	4	183652149	183652149	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:183652149C>A	ENST00000511685.1	+	16	2947	c.2824C>A	c.(2824-2826)Cta>Ata	p.L942I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.L942I					teneurin transmembrane protein 3									p.L942I(1)									GATGGATACCCTAGTCATGAA	0.428000													7	63					3.86212e-05	5.08106e-05	0.008291	1	0
OR51B5	282763	broad.mit.edu	37	11	5364598	5364598	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:5364598G>T	ENST00000300773.2	-	1	211	c.157C>A	c.(157-159)Ctt>Att	p.L53I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L53I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTCATGAAGATTGTGATCT	0.502000													7	64					2.0095e-06	3.01425e-06	0.001984	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69053120	69053120	+	Splice_Site	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:69053120C>A	ENST00000295381.3	+	11	2151	c.1730_splice	c.e11-1	p.L578_splice	ARHGAP25_ENST00000409202.3_Splice_Site_p.L579_splice|ARHGAP25_ENST00000409220.1_Splice_Site_p.L572_splice|ARHGAP25_ENST00000409030.3_Splice_Site_p.L571_splice|ARHGAP25_ENST00000467265.1_Splice_Site_p.L539_splice|ARHGAP25_ENST00000479844.1_Splice_Site_p.L272_splice	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	578					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L572I(1)|p.L579I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCTTGTAGCCTTGAGAAGGA	0.443000													7	46					2.7689e-08	4.72622e-08	0.001984	1	0
COL4A5	1287	broad.mit.edu	37	X	107827715	107827715	+	Splice_Site	SNP	G	G	T	rs104886092		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:107827715G>T	ENST00000328300.6	+	18	1236	c.990_splice	c.e18-1	p.G331_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G331_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	331	Triple-helical region.		G -> V (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G331V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTGAACAGGGCCAAAAAGGT	0.328000									Alport syndrome with Diffuse Leiomyomatosis				7	75					5.18039e-06	7.51441e-06	0.003080	1	0
PCDH10	57575	broad.mit.edu	37	4	134072013	134072013	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:134072013G>C	ENST00000264360.4	+	1	1544	c.718G>C	c.(718-720)Gtg>Ctg	p.V240L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V240L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCATCCGAGTGCTGGACTC	0.642000													8	73					0	0	0.004482	0	0
ZNF536	9745	broad.mit.edu	37	19	30936068	30936068	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:30936068G>T	ENST00000355537.3	+	2	1746	c.1599G>T	c.(1597-1599)atG>atT	p.M533I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M533I(1)		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)					GCATGGCCATGGAACATGGCT	0.602000													6	80					3.59834e-05	4.79778e-05	0.001168	1	0
EEF1B2	1933	broad.mit.edu	37	2	207026150	207026150	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:207026150G>C	ENST00000392222.2	+	3	659	c.284G>C	c.(283-285)aGt>aCt	p.S95T	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S95T|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S95T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	95						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S95T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GCTACAGATAGTAAAGATGAT	0.453000													11	133					0	0	0.000978	0	0
SHC2	25759	broad.mit.edu	37	19	425152	425152	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:425152C>A	ENST00000264554.6	-	10	1253	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	418	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		p.Q779H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCAGACCCTGGGTGTTGA	0.682000													12	47					1.61879e-10	2.96778e-10	0.001368	1	0
ADAD1	132612	broad.mit.edu	37	4	123333934	123333934	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:123333934C>A	ENST00000296513.2	+	10	1404	c.1219C>A	c.(1219-1221)Cag>Aag	p.Q407K	ADAD1_ENST00000388725.2_Missense_Mutation_p.Q389K|ADAD1_ENST00000388724.2_Missense_Mutation_p.Q396K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	407	A to I editase.			Q -> R (in Ref. 1; BAC04125).	multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.Q407K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATTTTATACAGCCAGTTTA	0.403000													14	153					5.01169e-05	6.54994e-05	0.004990	1	0
OR2M4	26245	broad.mit.edu	37	1	248402509	248402509	+	Silent	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:248402509T>C	ENST00000306687.1	+	1	279	c.279T>C	c.(277-279)tcT>tcC	p.S93S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			AATCTATCTCTCTGGCAGGTT	0.463000													12	101					0	0	0.000978	0	0
OR2F2	135948	broad.mit.edu	37	7	143632883	143632883	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:143632883G>T	ENST00000408955.2	+	1	625	c.558G>T	c.(556-558)agG>agT	p.R186S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R186S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTGTGGTCAGGCTGGCTTGTG	0.488000													5	103					0.00116845	0.00143697	0.001168	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711999	140711999	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:140711999A>T	ENST00000517417.1	+	1	1748	c.1748A>T	c.(1747-1749)gAg>gTg	p.E583V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E583V	NM_018912.2	NP_061735.1												p.E583V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCGCAGAGCCCGGCTAC	0.672000													11	120					0	0	0.000978	0	0
KRT40	125115	broad.mit.edu	37	17	39138576	39138576	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:39138576T>A	ENST00000377755.4	-	3	704	c.670A>T	c.(670-672)Aag>Tag	p.K224*	KRT40_ENST00000398486.2_Nonsense_Mutation_p.K224*			Q6A162	K1C40_HUMAN	keratin 40	224	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.K224*(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGTTTTTCTTAAGGCAAAGG	0.473000													11	96					0	0	0.000978	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215057	140215057	+	Silent	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:140215057C>A	ENST00000525929.1	+	1	1089	c.1089C>A	c.(1087-1089)gcC>gcA	p.A363A	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A363A|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1												p.A363A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGGACGCCCAACCAGGTA	0.507000													8	170					0.00448238	0.0053304	0.004482	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43580714	43580714	+	RNA	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:43580714G>T	ENST00000253803.2	+	0	89																		p.W2L(1)|p.W30L(1)									tttggaatgtggaaaggaggt	0.562000													4	19					0.000602214	0.000752293	0.000602	1	0
MEDAG	84935	broad.mit.edu	37	13	31498491	31498491	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis									p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363000													21	103					0	0	0.008871	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594199	6594199	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:6594199C>A	ENST00000433363.2	-	10	1569	c.1336G>T	c.(1336-1338)Gca>Tca	p.A446S	SLC13A5_ENST00000573648.1_Missense_Mutation_p.A446S|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A403S|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A429S	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	446						integral to membrane	citrate transmembrane transporter activity	p.A446S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTGATGGCTGCCGGGGGCACT	0.617000													7	103					2.0095e-06	3.01425e-06	0.001984	1	0
PIAS3	10401	broad.mit.edu	37	1	145580301	145580301	+	Silent	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:145580301T>C	ENST00000393045.2	+	6	873	c.783T>C	c.(781-783)aaT>aaC	p.N261N	PIAS3_ENST00000369298.1_Silent_p.N226N|PIAS3_ENST00000369299.3_Silent_p.N252N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	261	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.N252N(1)|p.N261N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGTCAATTGGTCATCTG	0.587000													5	139					0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56443652	56443652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:56443652G>T	ENST00000588751.1	-	1	50	c.26C>A	c.(25-27)cCc>cAc	p.P9H	NLRP13_ENST00000342929.3_Missense_Mutation_p.P9H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	9	DAPIN.						ATP binding	p.P9H(1)		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)		ACCACCGTTGGGGCAGGTGAT	0.498000													4	71					1.23904e-05	1.73993e-05	0.000602	1	0
EEF1B2	1933	broad.mit.edu	37	2	207026077	207026077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:207026077G>T	ENST00000392222.2	+	3	586	c.211G>T	c.(211-213)Gga>Tga	p.G71*	EEF1B2_ENST00000392221.1_Nonsense_Mutation_p.G71*|EEF1B2_ENST00000236957.5_Nonsense_Mutation_p.G71*	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	71	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.G71*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AAGCCTGCCAGGAGTGAAGAA	0.373000													9	106					1.11149e-13	2.17896e-13	0.008291	1	0
GGNBP2	79893	broad.mit.edu	37	17	34937774	34937774	+	Splice_Site	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:34937774A>T	ENST00000304718.4	+	9	1337	c.1020_splice	c.e9-1	p.M341_splice		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	341					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.M341L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTATAATAGATGACCGTGGA	0.393000													10	61					0	0	0.008291	0	0
PTGS2	5743	broad.mit.edu	37	1	186645168	186645168	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:186645168C>G	ENST00000367468.5	-	8	1255	c.1119G>C	c.(1117-1119)tgG>tgC	p.W373C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	373					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.W373C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAAGGGGATGCCAGTGATAGA	0.383000													8	135					0	0	0.006214	0	0
ATP1B4	23439	broad.mit.edu	37	X	119505001	119505001	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:119505001C>G	ENST00000218008.3	+	4	555	c.498C>G	c.(496-498)aaC>aaG	p.N166K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.N123K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.N162K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	166					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.N162K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTAACTTCAACTTCAACGTTT	0.398000													9	145					0	0	0.004482	0	0
OCA2	4948	broad.mit.edu	37	15	28326847	28326847	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr15:28326847C>A	ENST00000354638.3	-	2	329	c.174G>T	c.(172-174)caG>caT	p.Q58H	OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	58					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	p.Q58H(1)		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)		CCCAAGAGCTCTGCCCGGCAG	0.597000									Oculocutaneous Albinism				6	53					3.59834e-05	4.79778e-05	0.001168	1	0
MGAM	8972	broad.mit.edu	37	7	141752752	141752752	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:141752752A>T	ENST00000475668.2	+	26	3181	c.3127A>T	c.(3127-3129)Act>Tct	p.T1043S	MGAM_ENST00000549489.2_Missense_Mutation_p.T1043S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1043					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1043S(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGGATGTCACTTACCATAA	0.458000													9	73					0	0	0.004482	0	0
TDRD5	163589	broad.mit.edu	37	1	179562702	179562702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:179562702G>T	ENST00000444136.1	+	3	590	c.340G>T	c.(340-342)Gga>Tga	p.G114*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.G114*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.G114*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	114					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.G114*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TATTTATTCTGGACCGAGATC	0.463000													4	80					2.56e-06	3.78269e-06	0.000248	1	0
FMO2	2327	broad.mit.edu	37	1	171154954	171154954	+	Silent	SNP	T	T	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:171154954T>G	ENST00000441535.1	+	2	219	c.102T>G	c.(100-102)acT>acG	p.T34T	FMO2_ENST00000209929.7_Silent_p.T34T|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_Intron	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	34					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.T34T(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGAGAGAACTGAAGATATTG	0.458000													9	188					0	0	0.006214	0	0
CHDC2	286464	broad.mit.edu	37	X	36162711	36162711	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:36162711G>C	ENST00000378660.1	+	11	1482	c.1294G>C	c.(1294-1296)Gca>Cca	p.A432P	CHDC2_ENST00000313548.4_Missense_Mutation_p.A432P					calponin homology domain containing 2									p.A432P(1)									ggagatggatgcaggagtcag	0.478000													4	173					0	0	0.000248	0	0
WDR62	284403	broad.mit.edu	37	19	36580003	36580003	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:36580003A>T	ENST00000401500.2	+	14	1867	c.1832A>T	c.(1831-1833)cAg>cTg	p.Q611L	WDR62_ENST00000270301.7_Missense_Mutation_p.Q611L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	611					cerebral cortex development	nucleus		p.Q611L(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCAGTGCCCAGCAGGTAGGG	0.622000													7	21					0	0	0.001984	0	0
OR2F2	135948	broad.mit.edu	37	7	143633190	143633190	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:143633190A>C	ENST00000408955.2	+	1	932	c.865A>C	c.(865-867)Att>Ctt	p.I289L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GAACCCTGTGATTTATAGTCT	0.443000													9	91					0	0	0.004482	0	0
EFCAB7	84455	broad.mit.edu	37	1	63998406	63998406	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:63998406T>A	ENST00000371088.4	+	4	711	c.465T>A	c.(463-465)gaT>gaA	p.D155E		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	155	EF-hand 2.						calcium ion binding	p.D155E(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAAATGCTGATGGCAAATTTG	0.313000													12	100					0	0	0.001855	0	0
TULP4	56995	broad.mit.edu	37	6	158923658	158923658	+	Missense_Mutation	SNP	G	G	A	rs143675661		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:158923658G>A	ENST00000367097.3	+	13	4320	c.2963G>A	c.(2962-2964)cGg>cAg	p.R988Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	988					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R988Q(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTACCCTGCGGAGGAACAAC	0.711000													6	26					0	0	0.001168	0	0
CUL2	8453	broad.mit.edu	37	10	35349836	35349836	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr10:35349836T>A	ENST00000374748.1	-	5	596	c.283A>T	c.(283-285)Agc>Tgc	p.S95C	CUL2_ENST00000374742.1_Missense_Mutation_p.S95C|CUL2_ENST00000537177.1_Missense_Mutation_p.S114C|CUL2_ENST00000374751.3_Missense_Mutation_p.S95C|CUL2_ENST00000374746.1_Missense_Mutation_p.S95C|CUL2_ENST00000602371.1_Missense_Mutation_p.S38C|CUL2_ENST00000374749.3_Missense_Mutation_p.S95C			Q13617	CUL2_HUMAN	cullin 2	95				SKGA -> IRHE (in Ref. 7; AAC50545).	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	p.S95C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCACCCTTGCTGTATTCTTCC	0.368000													13	64					0	0	0.001368	0	0
FRAS1	80144	broad.mit.edu	37	4	79461787	79461787	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:79461787C>A	ENST00000264895.6	+	74	11988	c.11548C>A	c.(11548-11550)Cgc>Agc	p.R3850S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3845					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R3851S(1)|p.R3850S(1)		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						TCCACTCAGACGCAACCGAAG	0.547000													5	37					1.23904e-05	1.73993e-05	0.000602	1	0
CLDN11	5010	broad.mit.edu	37	3	170140986	170140986	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:170140986G>T	ENST00000064724.3	+	2	464	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	CLDN11_ENST00000486975.1_Missense_Mutation_p.A88S|CLDN11_ENST00000451576.1_Missense_Mutation_p.A88S|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	88					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.A88S(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GATGATTGCTGCCTCGGTCCT	0.617000													17	155					5.35267e-07	8.5816e-07	0.007413	1	0
FLG	2312	broad.mit.edu	37	1	152283027	152283027	+	Silent	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:152283027C>T	ENST00000368799.1	-	3	4370	c.4335G>A	c.(4333-4335)gtG>gtA	p.V1445V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.V1445V(1)		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)			CATGAGAGCTCACCTGGTAGA	0.587000									Ichthyosis				12	333					0	0	0.001368	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627613	21627613	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:21627613G>C	ENST00000425654.2	+	19	2960	c.2480G>C	c.(2479-2481)tGt>tCt	p.C827S	CNKSR2_ENST00000379510.3_Missense_Mutation_p.C857S|CNKSR2_ENST00000279451.4_Missense_Mutation_p.C857S|CNKSR2_ENST00000543067.1_Missense_Mutation_p.C808S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	857					regulation of signal transduction	cytoplasm|membrane	protein binding	p.C857S(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AACCATTGCTGTCTGAATGCT	0.552000													4	125					0	0	0.000248	0	0
HMCN1	83872	broad.mit.edu	37	1	186122916	186122916	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:186122916G>A	ENST00000271588.4	+	97	15282	c.15053G>A	c.(15052-15054)gGg>gAg	p.G5018E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5018E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5018	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G5018E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGGTCCTGGGCAGCTGTAC	0.458000													7	61					0	0	0.003080	0	0
CASP5	838	broad.mit.edu	37	11	104874001	104874001	+	Splice_Site	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:104874001C>A	ENST00000393141.2	-	4	613	c.582_splice	c.e4+1	p.E194_splice	CASP5_ENST00000393139.2_Intron|CASP5_ENST00000418434.1_Splice_Site_p.E39_splice|CASP5_ENST00000260315.3_Splice_Site_p.E181_splice|CASP5_ENST00000526056.1_Splice_Site_p.E194_splice|CASP5_ENST00000531367.1_Splice_Site_p.E39_splice|CASP5_ENST00000444749.2_Splice_Site_p.E123_splice	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	181					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.E165D(1)|p.E194D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGCACAGCACCTCATCATGAT	0.398000													7	104					8.12818e-05	0.000104505	0.001984	1	0
ZRANB3	84083	broad.mit.edu	37	2	135988469	135988469	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr2:135988469C>G	ENST00000401392.1	-	13	1780	c.1568G>C	c.(1567-1569)cGa>cCa	p.R523P	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R523P|ZRANB3_ENST00000264159.6_Missense_Mutation_p.R523P			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	523						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.R523P(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AAAAAATGATCGAATATCATG	0.348000													6	98					0	0	0.001168	0	0
PSD3	23362	broad.mit.edu	37	8	18393390	18393390	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:18393390C>A	ENST00000440756.2	-	16	3115	c.3013G>T	c.(3013-3015)Gca>Tca	p.A1005S	PSD3_ENST00000327040.8_Missense_Mutation_p.A1003S|PSD3_ENST00000523619.1_Missense_Mutation_p.A938S|PSD3_ENST00000428502.2_Missense_Mutation_p.A332S|PSD3_ENST00000286485.8_Missense_Mutation_p.A469S			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1004					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.A469S(1)|p.A1005S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCAGTCCTGCAGCCTCGCTT	0.498000													7	102					1.06961e-07	1.77225e-07	0.003080	1	0
MALAT1	378938	broad.mit.edu	37	11	65272642	65272642	+	RNA	SNP	T	T	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr11:65272642T>C	ENST00000534336.1	+	0	7410					NR_002819.2																						CTAAGCCTTTTTTTAAGATTT	0.473000													7	49					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38818065	38818065	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr6:38818065A>T	ENST00000359357.3	+	36	4841	c.4587A>T	c.(4585-4587)atA>atT	p.I1529I	DNAH8_ENST00000449981.2_Silent_p.I1746I|DNAH8_ENST00000441566.1_Silent_p.I1529I					dynein, axonemal, heavy chain 8									p.I1529I(2)		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						AGTCTTGGATAAAAATAATGC	0.363000													15	73					0	0	0.004007	0	0
CCT6B	10693	broad.mit.edu	37	17	33259426	33259426	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:33259426C>A	ENST00000314144.5	-	11	1422	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	CCT6B_ENST00000436961.3_Missense_Mutation_p.G391V|CCT6B_ENST00000421975.3_Missense_Mutation_p.G399V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	436					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.G436V(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AGCTTGGACTCCAAGACGAGC	0.408000													22	185					2.21704e-12	4.2007e-12	0.002780	1	0
EGFLAM	133584	broad.mit.edu	37	5	38425138	38425138	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:38425138C>A	ENST00000322350.5	+	13	2100	c.1754C>A	c.(1753-1755)gCc>gAc	p.A585D	EGFLAM_ENST00000336740.6_Missense_Mutation_p.A351D|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.A585D|EGFLAM_ENST00000397202.2_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	585	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse		p.A585D(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCAATCAAAGCCGACTCCTAC	0.473000													59	121					9.53978e-28	1.96758e-27	0.003610	1	0
HOXA1	3198	broad.mit.edu	37	7	27134270	27134270	+	Missense_Mutation	SNP	A	A	T	rs41311763		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr7:27134270A>T	ENST00000343060.4	-	2	858	c.797T>A	c.(796-798)cTg>cAg	p.L266Q	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	266						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L266Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTTGAGCTGCAGGGATGCAGC	0.567000													6	100					0	0	0.001984	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462198	5462198	+	Silent	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:5462198G>A	ENST00000296564.7	+	13	2973	c.2751G>A	c.(2749-2751)gaG>gaA	p.E917E		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	917								p.E917E(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACATCACGGAGGTGGCTGCTG	0.398000													5	104					0	0	0.000602	0	0
FHOD1	29109	broad.mit.edu	37	16	67265143	67265143	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr16:67265143G>C	ENST00000258201.4	-	17	2862	c.2615C>G	c.(2614-2616)cCt>cGt	p.P872R	FHOD1_ENST00000567687.1_Missense_Mutation_p.P451R	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	872	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.P872R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGAGGACTCAGGCCGGGTCTG	0.577000													13	39					0	0	0.001855	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378249	113378249	+	Silent	SNP	A	A	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:113378249A>T	ENST00000316407.4	-	7	2690	c.2280T>A	c.(2278-2280)ccT>ccA	p.P760P	KIAA2018_ENST00000478658.1_Silent_p.P760P|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	760					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P760P(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGTTGTCACAGGAGGTGCTG	0.393000													7	80					0	0	0.001984	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262466	43262466	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:43262466G>T	ENST00000255226.6	+	20	3561	c.2745G>T	c.(2743-2745)caG>caT	p.Q915H	SLC14A2_ENST00000589658.1_Missense_Mutation_p.Q392H|SLC14A2_ENST00000586448.1_Missense_Mutation_p.Q915H|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	915						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.Q915H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAAGTATCAGGCCTACGATG	0.498000													6	92					1.06961e-07	1.77225e-07	0.003080	1	0
SORCS2	57537	broad.mit.edu	37	4	7717039	7717039	+	Splice_Site	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:7717039G>T	ENST00000507866.2	+	17	2361		c.e17+1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity	p.G601G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAGCCTTGGGTGAGTGTGGG	0.627000													3	45					0.004672	0.00548995	0.004672	1	0
ZNF317	57693	broad.mit.edu	37	19	9270789	9270789	+	Splice_Site	SNP	G	G	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:9270789G>A	ENST00000247956.6	+	7	773		c.e7-1		ZNF317_ENST00000360385.3_Splice_Site	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTAACCAACAGGAAAGAGCCG	0.478000													5	74					0	0	0.000602	0	0
ZNF836	162962	broad.mit.edu	37	19	52658445	52658445	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr19:52658445C>A	ENST00000322146.8	-	5	3012	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y	ZNF836_ENST00000597252.1_Missense_Mutation_p.D831Y|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D831Y(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAAGGTTTGTCCCCAGTATGC	0.388000													30	241					7.26314e-15	1.43095e-14	0.007291	1	0
UCHL5	51377	broad.mit.edu	37	1	192992151	192992151	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:192992151C>T	ENST00000367452.4	-	9	1146	c.376G>A	c.(376-378)Gat>Aat	p.D126N	UCHL5_ENST00000367448.1_Missense_Mutation_p.D250N|UCHL5_ENST00000530098.2_Missense_Mutation_p.D127N|UCHL5_ENST00000367454.1_Missense_Mutation_p.D250N|UCHL5_ENST00000367449.1_Missense_Mutation_p.D250N|UCHL5_ENST00000367451.4_Missense_Mutation_p.D277N|UCHL5_ENST00000367455.3_Missense_Mutation_p.D251N			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	251					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D251N(1)|p.D251H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTACCTTGATCTGTATCCATG	0.338000													11	177					0	0	0.008291	0	0
ANK1	286	broad.mit.edu	37	8	41550708	41550708	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:41550708G>T	ENST00000396942.1	-	30	3627	c.3544C>A	c.(3544-3546)Caa>Aaa	p.Q1182K	ANK1_ENST00000379758.2_Missense_Mutation_p.Q1182K|ANK1_ENST00000396945.1_Missense_Mutation_p.Q1182K|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1223K|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1182K|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1182K|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1182K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1182					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.Q1182K(1)|p.Q1223K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTGGGCTTGGTCTGTTCCT	0.527000													7	69					5.18039e-06	7.51441e-06	0.003080	1	0
ANK2	287	broad.mit.edu	37	4	114264221	114264221	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr4:114264221C>A	ENST00000357077.4	+	34	4224	c.4171C>A	c.(4171-4173)Cca>Aca	p.P1391T	ANK2_ENST00000264366.6_Missense_Mutation_p.P1358T|ANK2_ENST00000510275.2_Missense_Mutation_p.P43T|ANK2_ENST00000509550.1_Missense_Mutation_p.P567T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1382T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1391T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1358					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P1391T(1)		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)		CAACTTGGTACCATTAACTAA	0.333000													9	87					7.48243e-07	1.16655e-06	0.006214	1	0
RYR2	6262	broad.mit.edu	37	1	237843805	237843805	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr1:237843805T>G	ENST00000366574.2	+	62	9262	c.8945T>G	c.(8944-8946)tTc>tGc	p.F2982C	RYR2_ENST00000542537.1_Missense_Mutation_p.F2966C|RYR2_ENST00000360064.6_Missense_Mutation_p.F2980C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2982	Modulator (Potential).				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	p.F2980C(2)		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)			CGTTTATACTTCTTATCTGCA	0.388000													3	32					0	0	0.004672	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887120	32887120	+	RNA	SNP	G	G	T	rs142309584		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:32887120G>T	ENST00000399070.3	+	0	1514					NR_024565.1|NR_024566.1													p.V178F(1)		large_intestine(3)|lung(9)	12						TTTAGTCGCCGTTCAGATCTT	0.378000													10	157					1.58986e-06	2.45932e-06	0.008291	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906357	164906357	+	Frame_Shift_Del	DEL	G	G	-	rs146211129		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr3:164906357delG	ENST00000475390.1	-	2	2705	c.2262delC	c.(2260-2262)ccfs	p.P754fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.P754fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	754						integral to membrane		p.P754P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTTGTAGATGGGGTTGTTGC	0.582										HNSCC(40;0.11)			18	126	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggfs	p.G907fs	ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	1553	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													7	225	---	---	---	---					
PTPRD	5789	broad.mit.edu	37	9	8389298	8389298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr9:8389298delC	ENST00000381196.4	-	34	4863	c.4320delG	c.(4318-4320)tgfs	p.W1440fs	PTPRD_ENST00000397606.3_Frame_Shift_Del_p.W1033fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.W1030fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.W1033fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.W1440fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.W1427fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.W1030fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.W1418fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.W1033fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.W1440fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.W1034fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1440	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATATCATTCTCCAAAAGTCCC	0.403										TSP Lung(15;0.13)			12	228	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													8	196	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													2	4	---	---	---	---					
ACSF2	80221	broad.mit.edu	37	17	48503739	48503739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:48503739delC	ENST00000427954.2	+	1	160	c.117delC	c.(115-117)gtfs	p.V39fs	ACSF2_ENST00000300441.4_Frame_Shift_Del_p.V39fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.V39fs|ACSF2_ENST00000541920.1_5'UTR|ACSF2_ENST00000504392.1_Frame_Shift_Del_p.V39fs			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	39					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGGGTGTCCGCTTCCTCA	0.726													2	4	---	---	---	---					
MED13	9969	broad.mit.edu	37	17	60107282	60107283	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr17:60107282_60107283delGT	ENST00000397786.2	-	7	1177_1178	c.1101_1102delAC	c.(1099-1104)atccfs	p.IP367fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	367					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			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTTCTGGGTATTTTCCCAC	0.381													28	85	---	---	---	---					
ZADH2	284273	broad.mit.edu	37	18	72920829	72920830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr18:72920829_72920830insC	ENST00000322342.3	-	1	473_474	c.184_185insG	c.(184-186)cggfs	p.R62fs		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	62						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GAGGTCTCCGTCCCCGGGGAGC	0.757													3	5	---	---	---	---					
IFNAR2	3455	broad.mit.edu	37	21	34635338	34635338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr21:34635338delG	ENST00000342136.4	+	9	1407	c.1081delG	c.(1081-1083)acfs	p.D361fs	IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Frame_Shift_Del_p.D361fs|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	361					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CCAGTTGATAGACCCGGAGTC	0.607													14	78	---	---	---	---					
IGLV2-11	28816	broad.mit.edu	37	22	23135393	23135393	+	RNA	DEL	C	C	-			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chr22:23135393delC	ENST00000390314.2	+	0	297																											GCTTCTCTGGCTCCAAGTCTG	0.547													19	322	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36162841	36162842	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6744-01A-11D-1855-08	TCGA-49-6744-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6ba698-7154-4d7f-b076-24ac2f768696	2c3be991-7581-48e9-8ebb-054eedf79d45	g.chrX:36162841_36162842insT	ENST00000378660.1	+	11	1612_1613	c.1424_1425insT	c.(1423-1425)tttfs	p.F475fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.F475fs					calponin homology domain containing 2																		ttttttgtttgtttgttctttt	0.431													14	45	---	---	---	---					
