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
FAM66D	100132923	broad.mit.edu	37	8	11986053	11986053	+	RNA	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:11986053G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CACAATGATAGGCATTCTCTC	0.507000													4	39					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167161	89167161	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:89167161G>A	ENST00000317447.4	+	3	449	c.72G>A	c.(70-72)gcG>gcA	p.A24A	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.A24A	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	24					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCGCCTGCGAGACACAGAG	0.677000													13	42					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752566	201752566	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:201752566C>T	ENST00000367296.4	+	7	2810	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	NAV1_ENST00000367302.1_Missense_Mutation_p.S810L|NAV1_ENST00000367297.4_Missense_Mutation_p.S797L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.S797L|NAV1_ENST00000367295.1_Missense_Mutation_p.S406L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S797L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	797					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAACCACCCTCACTAGCCAAT	0.448000													136	249					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17323118	17323118	+	Nonstop_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:17323118G>T	ENST00000594824.1	+	40	6620	c.6473G>T	c.(6472-6474)tGa>tTa	p.*2158L	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	0					actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCAATGGCTGAGAGCCACAG	0.652000													5	9					0.184627	0.184627	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100851	168100851	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:168100851C>T	ENST00000409195.1	+	9	3038	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	808					actin cytoskeleton organization	cell junction	actin binding	p.F983F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTCTCTTCGAGACAACAC	0.353000													15	63					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:130184469C>T	ENST00000422113.2	-	2	1180	c.854G>A	c.(853-855)cGt>cAt	p.R285H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	285						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGTCCAGACGCAGTTCTCT	0.522000													8	45					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167386	64167386	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:64167386A>T	ENST00000395391.1	+	4	2079	c.704A>T	c.(703-705)aAg>aTg	p.K235M	ZNF107_ENST00000344930.3_Missense_Mutation_p.K235M|ZNF107_ENST00000423627.1_Missense_Mutation_p.K235M			Q9UII5	ZN107_HUMAN	zinc finger protein 107	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACTACACAAAAGATACTTCAC	0.353000													26	67					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890116	156890116	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:156890116C>G	ENST00000311946.7	+	2	354	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.L80V	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	80						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCTGCTCCACCTCTACTGCTC	0.512000													34	58					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40010852	40010852	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:40010852C>T	ENST00000308666.3	-	2	1193	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	353	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCCACTGCTGCTCCAAACATA	0.358000													26	98					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55576698	55576698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:55576698C>A	ENST00000436346.1	-	9	1679	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.E280*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.E280*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.E280*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	280					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTCAAGTTCTTGTTTACAA	0.333000													8	61					0.000274275	0.000279141	1	1	0
ADAM10	102	broad.mit.edu	37	15	58974419	58974419	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:58974419G>C	ENST00000260408.3	-	3	744	c.301C>G	c.(301-303)Cat>Gat	p.H101D	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	101					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GTGTAAATATGAGAGGTATCA	0.318000													17	50					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108233410	108233410	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:108233410C>T	ENST00000281092.4	+	10	1481	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Missense_Mutation_p.S191L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	366					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGAAACAGTCAGTCCAGCAG	0.373000													15	47					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175983020	175983020	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:175983020C>G	ENST00000264110.2	-	6	575	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ATF2_ENST00000392544.1_Missense_Mutation_p.E93Q|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.E75Q|ATF2_ENST00000487334.2_Missense_Mutation_p.E75Q|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E35Q|ATF2_ENST00000409635.1_Missense_Mutation_p.E35Q|ATF2_ENST00000409833.1_Missense_Mutation_p.E93Q|ATF2_ENST00000538946.1_Missense_Mutation_p.E75Q|ATF2_ENST00000409437.1_Missense_Mutation_p.E75Q	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	93					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AATTCATTCTCAAATGGACTC	0.323000													14	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105957	168105957	+	Silent	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:168105957A>G	ENST00000409195.1	+	9	8144	c.8055A>G	c.(8053-8055)caA>caG	p.Q2685Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2463Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2685Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAGTACCCAACAAACACAAC	0.368000													36	84					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131764164	131764164	+	Splice_Site	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:131764164G>T	ENST00000372577.2	+	36	4067	c.4046G>T	c.(4045-4047)gGa>gTa	p.G1349V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1349					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTCCCAGGGAGCCACAGCA	0.582000													19	26					1.74485e-21	1.90814e-21	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70990717	70990717	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:70990717G>A	ENST00000357250.6	-	9	1060	c.902C>T	c.(901-903)cCg>cTg	p.P301L	COL9A1_ENST00000370499.4_Missense_Mutation_p.P58L|COL9A1_ENST00000320755.7_Missense_Mutation_p.P58L|COL9A1_ENST00000370496.3_Missense_Mutation_p.P301L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	301	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CGGGGGGCCCGGGGGGCCCTT	0.577000													28	59					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461479	106461479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:106461479C>G	ENST00000261402.2	-	7	2466	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	363							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGCTGCCGCTCTAGCATGACC	0.542000													17	79					0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50910682	50910682	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:50910682C>T	ENST00000013125.4	-	19	1730	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	471					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTCCTTTTTTCGTGGTAACTG	0.348000													6	7					0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13681434	13681434	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:13681434G>C	ENST00000380600.1	+	2	894	c.807G>C	c.(805-807)ttG>ttC	p.L269F	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000314720.4_Missense_Mutation_p.L299F|TCEANC_ENST00000545566.1_Missense_Mutation_p.L269F|TCEANC_ENST00000544987.1_Missense_Mutation_p.L269F			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	269	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						TGAAGCAGTTGAGAGCCTCCT	0.418000													6	11					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213150	26213150	+	Missense_Mutation	SNP	T	T	A	rs148714935		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:26213150T>A	ENST00000379034.1	+	2	1336	c.1187T>A	c.(1186-1188)aTa>aAa	p.I396K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	396										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GACGCTTTGATAGATGAGGTA	0.507000													63	31					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932050	23932050	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:23932050G>A	ENST00000331837.4	-	1	400	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	105	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTACCACATGAGCTCGTGCG	0.652000									Prader-Willi syndrome				8	178					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51005271	51005271	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:51005271C>T	ENST00000396153.2	-	14	1849	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	FAF1_ENST00000545823.1_Silent_p.V224V|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Silent_p.V466V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	466					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TACCTTGTATCACATTCAACA	0.378000													9	61					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138958753	138958753	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:138958753G>T	ENST00000473989.3	+	11	1906	c.1906G>T	c.(1906-1908)Gat>Tat	p.D636Y	UBN2_ENST00000288561.8_Missense_Mutation_p.D553Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCTGCTGAAGATTATCTTAA	0.358000													6	48					0.000673444	0.000684289	1	1	0
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:62518605G>C	ENST00000383710.4	-	13	2581	c.2232C>G	c.(2230-2232)atC>atG	p.I744M	CADPS_ENST00000283269.9_Missense_Mutation_p.I744M|CADPS_ENST00000357948.3_Missense_Mutation_p.I727M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	744					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I744I(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517000													14	91					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983194	17983194	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:17983194C>T	ENST00000361221.3	+	25	3010	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R946W|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R654W|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R912W|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R724W|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R912W|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	951					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGCTTACCCTCGGACCAGCGG	0.652000													26	29					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220332000	220332000	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:220332000G>A	ENST00000312358.7	+	10	3118	c.2986G>A	c.(2986-2988)Gac>Aac	p.D996N	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	996	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		GGGGCCCACTGACGTGGAGGT	0.652000													25	89					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000252172.4_Silent_p.*1939*|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													35	34					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3190757	3190757	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:3190757G>C	ENST00000396878.3	+	6	1264	c.789G>C	c.(787-789)caG>caC	p.Q263H	ZNF213_ENST00000576416.1_Missense_Mutation_p.Q263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q263H|ZNF213_ENST00000416391.2_Missense_Mutation_p.Q105H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	263	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TGCCAGGCCAGACAGGCAGCG	0.677000													25	44					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72215722	72215722	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:72215722G>A	ENST00000340595.3	+	2	547	c.351G>A	c.(349-351)ctG>ctA	p.L117L	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.L161L|SLC4A4_ENST00000512686.1_Silent_p.L117L|SLC4A4_ENST00000425175.1_Silent_p.L161L|SLC4A4_ENST00000264485.5_Silent_p.L161L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	161						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TATTTGAGCTGAGGACATGTA	0.443000													92	82					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793756	109793756	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:109793756G>A	ENST00000271332.3	+	1	1116	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	352	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCCGAACCCGTGGCCCTGTG	0.622000													29	43					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85647870	85647870	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:85647870G>C	ENST00000341460.5	-	3	2504	c.2455C>G	c.(2455-2457)Caa>Gaa	p.Q819E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	819	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACAACTTTTTGAATATCAACT	0.338000													4	10					0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219366426	219366426	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:219366426C>T	ENST00000366928.5	+	3	241	c.194C>T	c.(193-195)tCa>tTa	p.S65L	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	65						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTAAACAGATCATATACTCCT	0.343000													9	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737712	152737712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:152737712G>A	ENST00000367255.5	-	41	6461	c.5860C>T	c.(5860-5862)Cag>Tag	p.Q1954*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1961*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1991*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1954*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1961*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1954					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACAGAGCTGATCAGCCGTG	0.512000										HNSCC(10;0.0054)			25	114					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096275	147096275	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:147096275C>T	ENST00000234739.3	+	10	4536	c.3796C>T	c.(3796-3798)Cct>Tct	p.P1266S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1266	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCCCCAGGGTCCTGGACCTGG	0.562000			T	"""IGH@, IGL@"""	B-ALL								13	56					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714153	81714153	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:81714153C>T	ENST00000356860.3	-	7	928	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R197H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R197H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	197						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCTTCCTCGCGATTCTTTTT	0.378000													19	40					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153135552	153135552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:153135552G>T	ENST00000370060.1	-	9	1139	c.950C>A	c.(949-951)tCa>tAa	p.S317*	L1CAM_ENST00000361699.4_Nonsense_Mutation_p.S317*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.S312*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.S319*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.S319*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.S312*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.S317*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	317	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCCAGTGAGTTCTCGGC	0.627000													82	66					8.87156e-34	9.76955e-34	1	1	0
TTN	7273	broad.mit.edu	37	2	179468995	179468995	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:179468995C>T	ENST00000589042.1	-	282	54643	c.54419G>A	c.(54418-54420)cGa>cAa	p.R18140Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9200Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16499Q|TTN_ENST00000342175.6_Missense_Mutation_p.R9267Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9075Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15572Q|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16499							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15572Q(2)|p.R9267Q(1)|p.R9075Q(1)|p.R9200Q(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)			TGCCCTGACTCGGAACTCATA	0.368000													9	32					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90262265	90262265	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:90262265G>C	ENST00000469640.2	+	14	1651	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	DAPK1_ENST00000472284.1_Missense_Mutation_p.D426H|DAPK1_ENST00000491893.1_Missense_Mutation_p.D426H|DAPK1_ENST00000408954.3_Missense_Mutation_p.D426H|DAPK1_ENST00000358077.5_Missense_Mutation_p.D426H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	426					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGGCCACGTCGATACCTTGAA	0.507000									Chronic Lymphocytic Leukemia, Familial Clustering of				21	52					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167230	89167230	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:89167230C>G	ENST00000317447.4	+	3	518	c.141C>G	c.(139-141)ttC>ttG	p.F47L	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.F47L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	47					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CCCCGGTGTTCACCCGTGCCC	0.677000													11	57					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651661	651661	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:651661G>A	ENST00000292363.5	-	4	548	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	131							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GCCGCGTGGTGAGGCGGGCGC	0.781000													5	5					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800457	39800457	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:39800457G>A	ENST00000564288.1	+	37	8974	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2770N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.D2738N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D1173N|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2738					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAATTGTTGACATATTTAG	0.373000													11	76					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622000													4	180					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11737618	11737618	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:11737618G>C	ENST00000235310.3	-	6	1141	c.213C>G	c.(211-213)gtC>gtG	p.V71V	MAD2L2_ENST00000376692.4_Silent_p.V71V|MAD2L2_ENST00000376667.3_Silent_p.V71V|MAD2L2_ENST00000376672.1_Silent_p.V71V|MAD2L2_ENST00000376669.5_Silent_p.V71V			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	71	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGTGGCTTGACGCAGTGCA	0.607000								DNA polymerases (catalytic subunits)					31	53					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31954743	31954743	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:31954743G>A	ENST00000357886.4	-	13	1659	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	CDK5RAP1_ENST00000346416.2_Silent_p.L488L|CDK5RAP1_ENST00000473997.1_Silent_p.L398L|CDK5RAP1_ENST00000544843.1_3'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.L411L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	502	CDK5R1-binding.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AGATAGTGATGAGTTCCTCCA	0.443000													68	74					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895340	26895340	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:26895340G>T	ENST00000407690.1	-	9	1342	c.1059C>A	c.(1057-1059)ttC>ttA	p.F353L	TFIP11_ENST00000407148.1_Missense_Mutation_p.F353L|TFIP11_ENST00000407431.1_Missense_Mutation_p.F353L|TFIP11_ENST00000405938.1_Missense_Mutation_p.F353L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	353					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCAGCTCGTGGAAGAGGTTGA	0.597000													20	113					2.70639e-06	2.79498e-06	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35715175	35715175	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:35715175G>A	ENST00000373866.3	+	4	604	c.582G>A	c.(580-582)ttG>ttA	p.L194L	ARMC12_ENST00000288065.2_Silent_p.L221L|ARMC12_ENST00000373869.3_Silent_p.L194L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	194							binding										TGCCTGCCTTGATGGAGATCC	0.587000													33	41					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133166179	133166179	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:133166179G>A	ENST00000302334.2	+	2	597	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	170	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGCAGTCTTGGAAAATGCCCG	0.517000													16	23					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160734	160160734	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:160160734G>A	ENST00000368079.3	+	1	450	c.175G>A	c.(175-177)Gag>Aag	p.E59K	CASQ1_ENST00000368078.3_Missense_Mutation_p.E65K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	65						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGAAGTATGAGGTGCTGGC	0.522000													16	47					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482801	76482801	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:76482801C>T	ENST00000307431.8	+	7	1262	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H293Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H269Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H297Y|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	294	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACACAGGCATCATTTCCATGC	0.423000													8	28					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151749346	151749346	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:151749346G>C	ENST00000535741.1	-	30	5630	c.5157C>G	c.(5155-5157)ttC>ttG	p.F1719L	LRBA_ENST00000507224.1_Missense_Mutation_p.F1719L|LRBA_ENST00000510413.1_Missense_Mutation_p.F1719L|LRBA_ENST00000357115.3_Missense_Mutation_p.F1719L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1719						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAAAAGATCTGAACTGCACGG	0.478000													15	61					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142810	5142810	+	RNA	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:5142810C>T	ENST00000498233.1	-	0	588																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGGGCCATTCAGGGGTCTTC	0.393000													31	44					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323707	49323707	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:49323707G>C	ENST00000351842.4	-	15	1891	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*	USP4_ENST00000265560.4_Nonsense_Mutation_p.S675*	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	675					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCTGTTTCTGAAAGCTGCTC	0.443000													22	73					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66394062	66394062	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:66394062T>C	ENST00000310137.4	+	3	2072	c.1933T>C	c.(1933-1935)Tac>Cac	p.Y645H	RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	645					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCATTCCGATTACGCACGCTA	0.597000													11	79					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745565	140745565	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:140745565C>T	ENST00000518069.1	+	1	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATACGC	0.612000													73	210					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74169827	74169827	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:74169827C>T	ENST00000269391.6	-	3	384	c.252G>A	c.(250-252)ctG>ctA	p.L84L	RNF157_ENST00000319945.6_Silent_p.L84L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	84							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGGCTTCTCAGAGTCTTCA	0.557000													6	39					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84775483	84775483	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:84775483G>C	ENST00000389394.3	+	8	1395	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	DNAH6_ENST00000398278.2_Missense_Mutation_p.E420Q|DNAH6_ENST00000237449.6_Missense_Mutation_p.E420Q	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	420	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGGAGACTCTGAGAAAATGAC	0.378000													26	106					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73739924	73739924	+	Silent	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:73739924C>A	ENST00000200181.3	+	26	3280	c.3093C>A	c.(3091-3093)ggC>ggA	p.G1031G	ITGB4_ENST00000450894.3_Silent_p.G1031G|ITGB4_ENST00000579662.1_Silent_p.G1031G|ITGB4_ENST00000449880.2_Silent_p.G1031G|ITGB4_ENST00000339591.3_Silent_p.G1031G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1031	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACAGGATGGCACCGCGCAGG	0.692000													4	18					0.00024832	0.000253134	1	1	0
BRCA2	675	broad.mit.edu	37	13	32914214	32914214	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:32914214C>G	ENST00000544455.1	+	11	5949	c.5722C>G	c.(5722-5724)Cta>Gta	p.L1908V	BRCA2_ENST00000380152.3_Missense_Mutation_p.L1908V	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1908					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATAACTCTCTAGATAATGA	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			50	80					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648820	130648820	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:130648820G>T	ENST00000539839.1	+	1	1817	c.1235G>T	c.(1234-1236)cGg>cTg	p.R412L	FZD10_ENST00000229030.4_Missense_Mutation_p.G445W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	84					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTGCGTATCGGGCTCTTCTC	0.587000													26	45					7.92952e-12	8.42345e-12	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68355440	68355440	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:68355440G>A	ENST00000393799.2	+	16	1945	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PPP6R3_ENST00000393800.2_Missense_Mutation_p.D560N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D531N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D525N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D480N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D328N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D560N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D480N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D554N|PPP6R3_ENST00000265637.4_Intron			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	560					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAATTTTATTGACCAGTTTGG	0.413000													54	221					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885978	60885978	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:60885978G>A	ENST00000252999.3	-	74	10327	c.10261C>T	c.(10261-10263)Cgg>Tgg	p.R3421W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3421	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCAGGCCGGGAGCGCTGG	0.697000													3	26					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688292	60688292	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:60688292G>A	ENST00000335712.6	-	4	1982	c.1755C>T	c.(1753-1755)tgC>tgT	p.C585C	BCL11A_ENST00000356842.4_Silent_p.C585C|BCL11A_ENST00000358510.4_Silent_p.C551C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.C551C|BCL11A_ENST00000537768.1_Silent_p.C254C|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	585					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTCTTCGTCGCAAGTGTCCC	0.682000			T	IGH@	B-CLL								10	35					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51834638	51834638	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:51834638C>G	ENST00000251076.5	-	9	1284	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.E333Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.E333Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	333						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGCATTAATTCAGCATGAGTT	0.393000													21	91					0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125824572	125824572	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:125824572G>A	ENST00000285689.3	+	13	1706	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	GRAMD3_ENST00000543198.1_3'UTR|GRAMD3_ENST00000544396.1_Silent_p.V311V|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000513040.1_Silent_p.V430V|GRAMD3_ENST00000502348.1_Silent_p.V306V|GRAMD3_ENST00000515200.1_Silent_p.V393V|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000542322.1_Silent_p.V423V|GRAMD3_ENST00000511134.1_Silent_p.V399V	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	415										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CTAACATAGTGAAATTAGAAA	0.458000													19	52					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424514	110424514	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:110424514G>A	ENST00000378402.5	+	20	2210	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	702					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q704H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGAGGGCAGAAGACAGCTG	0.408000										HNSCC(38;0.096)			4	59					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1274169	1274169	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:1274169C>T	ENST00000447027.1	+	33	15243	c.15185C>T	c.(15184-15186)tCg>tTg	p.S5062L	MUC5B_ENST00000529681.1_Missense_Mutation_p.S5059L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5059					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCAAAGTGTCGGACCCGAGC	0.642000													13	39					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141297808	141297808	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:141297808A>C	ENST00000389328.4	-	13	2188	c.2174T>G	c.(2173-2175)tTc>tGc	p.F725C	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.F627C|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.F618C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	627					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGAGACTCGAACTCCACTCC	0.572000													12	61					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008399	41008399	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:41008399C>G	ENST00000352632.3	+	10	1274	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	SPTBN4_ENST00000598249.1_Missense_Mutation_p.I396M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.I396M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.I396M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.I396M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	396					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGGCATCTGGGATATTG	0.572000													17	67					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23678372	23678372	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:23678372C>G	ENST00000300087.2	+	6	607	c.456C>G	c.(454-456)ctC>ctG	p.L152L	DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	152						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CCCCAGGACTCTTCTCAGGGG	0.478000													32	53					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884216	53884216	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53884216C>A	ENST00000467003.1	+	4	477	c.276C>A	c.(274-276)caC>caA	p.H92Q	ZNF525_ENST00000474037.1_Missense_Mutation_p.H128Q|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						AATATGATCACAGGCATGCTG	0.373000													17	254					6.94344e-10	7.27793e-10	1	1	0
EP300	2033	broad.mit.edu	37	22	41525909	41525909	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:41525909C>T	ENST00000263253.7	+	5	2403	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	395					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACTGTGCATCTTCTCGACAA	0.358000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				26	37					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13248163	13248163	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:13248163G>A	ENST00000292431.4	+	4	1325	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	400	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GTCCTACTGCGGCGGCTCCTG	0.652000													12	88					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122364	40122364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:40122364C>A	ENST00000261435.6	+	9	3049	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	878						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GACAAAAACTCATTCAACATT	0.393000													11	39					4.68919e-08	4.88264e-08	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43334726	43334726	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:43334726G>A	ENST00000380486.3	-	6	1066	c.825C>T	c.(823-825)ctC>ctT	p.L275L	C2CD2_ENST00000329623.7_Silent_p.L120L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	275	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGGCTCGCTGAGCAGCAAGA	0.627000													10	29					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251975	49251975	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:49251975G>C	ENST00000309739.5	-	5	633	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	168					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GGTGAAAGCTGAGCCTTCCAG	0.552000													11	53					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196235184	196235184	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:196235184C>A	ENST00000397537.2	-	3	375	c.219G>T	c.(217-219)ttG>ttT	p.L73F		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		ATAAAATATTCAATTCCATTG	0.368000													24	49					2.21704e-12	2.36309e-12	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	11					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15974947	15974947	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:15974947C>G	ENST00000268712.3	-	30	4185	c.3928G>C	c.(3928-3930)Gat>Cat	p.D1310H	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.D1326H	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1310	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTAAGGCCATCTTCAAAGCTT	0.408000													23	79					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906935	129906935	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:129906935C>T	ENST00000368654.3	-	13	3544	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	MKI67_ENST00000368653.3_Missense_Mutation_p.E697K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1057	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGCTGGCTCTCTGTGCGTG	0.547000													64	406					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67263589	67263589	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:67263589C>T	ENST00000258201.4	-	22	3692	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1149					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			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)		TGCACCAGGTCATCTCCGAGC	0.597000													20	60					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93619752	93619752	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:93619752T>C	ENST00000394236.3	-	7	939	c.623A>G	c.(622-624)aAg>aGg	p.K208R	PROS1_ENST00000407433.1_Missense_Mutation_p.K77R	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	208	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AATGCTTGGCTTCAAAGAGCA	0.378000													3	57					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63534365	63534365	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:63534365C>G	ENST00000307078.5	-	5	1469	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.E386Q	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	386	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGGCGGCTCTCCAACTCCAGC	0.622000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	47					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873178	76873178	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:76873178C>G	ENST00000409709.3	+	13	1628	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	MYO7A_ENST00000409893.1_Silent_p.L452L|MYO7A_ENST00000409619.2_Silent_p.L441L|MYO7A_ENST00000458637.2_Silent_p.L452L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	452	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGAGCAGCTCTGCATCAACT	0.587000													4	54					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59872529	59872529	+	Silent	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:59872529C>A	ENST00000361421.1	-	2	361	c.141G>T	c.(139-141)ccG>ccT	p.P47P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	47						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGTCCTGGCTCGGCTCTGTCA	0.388000													4	43					0.00024832	0.000253134	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139815502	139815502	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:139815502G>C	ENST00000359662.3	+	9	1174	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	TRAF2_ENST00000247668.2_Missense_Mutation_p.E325Q|TRAF2_ENST00000536468.1_Missense_Mutation_p.E325Q			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	325	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCAGCAGCTGGAGAGGAGCAT	0.617000													5	20					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54930822	54930822	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:54930822C>G	ENST00000293373.6	+	29	3247	c.3168C>G	c.(3166-3168)ctC>ctG	p.L1056L	NCKAP1L_ENST00000545638.2_Silent_p.L1006L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1056					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAACTCACCTCAAGGAATTTC	0.413000													9	42					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20020931	20020931	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:20020931G>C	ENST00000294543.6	-	15	1737	c.1496C>G	c.(1495-1497)tCt>tGt	p.S499C	TMCO4_ENST00000375122.2_Missense_Mutation_p.S459C|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.S499C	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	499						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACTCACCACAGAGGTCAGGTC	0.642000													9	62					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36962439	36962439	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:36962439T>A	ENST00000300105.6	-	3	1378	c.397A>T	c.(397-399)Aac>Tac	p.N133Y		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	133					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGGATGATGTTGTGTCGAGTT	0.567000													26	48					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848844	83848844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:83848844C>T	ENST00000349129.2	+	21	5343	c.5083C>T	c.(5083-5085)Cag>Tag	p.Q1695*	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1676*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1686*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1695					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAATCTAATTCAGCAGTACAA	0.348000													14	54					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57910863	57910863	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:57910863G>A	ENST00000551116.1	-	4	575	c.308C>T	c.(307-309)cCt>cTt	p.P103L	DDIT3_ENST00000346473.3_Missense_Mutation_p.P80L|DDIT3_ENST00000547303.1_Missense_Mutation_p.P80L|DDIT3_ENST00000552740.1_Missense_Mutation_p.P103L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	80					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TGGAGAGTGAGGGCTCTGGGA	0.552000			T	FUS	liposarcoma								17	85					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046826	32046826	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:32046826G>A	ENST00000375244.3	-	11	4560	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S	TNXB_ENST00000375247.2_Silent_p.S1453S			P22105	TENX_HUMAN	tenascin XB	1540					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCCACGGCGGACACCGGGC	0.662000													37	40					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103137012	103137012	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:103137012C>T	ENST00000428762.1	-	56	9313	c.9154G>A	c.(9154-9156)Gaa>Aaa	p.E3052K	RELN_ENST00000343529.5_Missense_Mutation_p.E3052K|RELN_ENST00000424685.2_Missense_Mutation_p.E3052K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3052					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATTGATTTCTGCTCCACCA	0.453000													36	68					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241404541	241404541	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:241404541C>T	ENST00000264039.2	+	7	1430	c.1182C>T	c.(1180-1182)atC>atT	p.I394I		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	394					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		ACTTCTGGATCAGCCTCCCAG	0.672000													5	9					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249948	72249948	+	Silent	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:72249948C>A	ENST00000441391.2	+	7	1749	c.537C>A	c.(535-537)atC>atA	p.I179I	TTYH2_ENST00000529107.1_Silent_p.I479I|TTYH2_ENST00000269346.4_Silent_p.I500I	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	500						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGCCACTAATCGGGAGAGCCT	0.567000													24	101					1.66031e-10	1.749e-10	1	1	0
CCDC88B	283234	broad.mit.edu	37	11	64111688	64111688	+	Missense_Mutation	SNP	G	G	C	rs139020637		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:64111688G>C	ENST00000356786.5	+	14	1719	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	559					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACAGGAGGCAGAGAGTCCCCT	0.642000													42	68					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409956	13409956	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:13409956G>A	ENST00000360228.5	-	19	2490	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R832C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	832					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGTTGTTGCGGTTCTCCTGC	0.687000													4	49					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755678	124755678	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:124755678C>T	ENST00000368886.5	-	4	468	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CCATTTTGATCACCATCTGTT	0.363000													12	95					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019335	245019335	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:245019335C>G	ENST00000444376.2	-	11	2215	c.1981G>C	c.(1981-1983)Gaa>Caa	p.E661Q	HNRNPU_ENST00000283179.9_Missense_Mutation_p.E680Q	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	680					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGTTTCTTTTCTGGTGGAAGA	0.403000													32	183					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910380	57910380	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:57910380C>G	ENST00000574161.1	+	3	431	c.312C>G	c.(310-312)atC>atG	p.I104M	MYZAP_ENST00000267853.5_Missense_Mutation_p.I104M|GCOM1_ENST00000396180.1_Missense_Mutation_p.I104M|GCOM1_ENST00000572390.1_Missense_Mutation_p.I104M|GCOM1_ENST00000380569.2_Missense_Mutation_p.I104M|GCOM1_ENST00000587652.1_Missense_Mutation_p.I104M|GCOM1_ENST00000380568.3_Missense_Mutation_p.I104M|GCOM1_ENST00000380560.2_Missense_Mutation_p.I104M|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.I104M|GCOM1_ENST00000380561.2_Missense_Mutation_p.I104M	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		104					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		p.I104M(1)		endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGAACTACATCAAAGATGTGA	0.418000													14	70					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483550	31483550	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:31483550C>T	ENST00000322054.5	+	4	962	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	226					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAGATCGAGACGCAGCAGCTG	0.552000													30	31					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165550784	165550784	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:165550784C>G	ENST00000375458.2	-	11	3339	c.3118G>C	c.(3118-3120)Gat>Cat	p.D1040H	COBLL1_ENST00000194871.6_Missense_Mutation_p.D1145H|COBLL1_ENST00000409184.3_Missense_Mutation_p.D1078H|COBLL1_ENST00000392717.2_Missense_Mutation_p.D1116H|COBLL1_ENST00000342193.4_Missense_Mutation_p.D1078H	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1116										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTACCTTATCAGACACACCA	0.398000													26	90					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138958776	138958776	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:138958776G>A	ENST00000473989.3	+	11	1929	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	UBN2_ENST00000288561.8_Silent_p.E560E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTTTATGGAGACAGAAGTGA	0.358000													5	54					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26343235	26343235	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:26343235G>A	ENST00000381655.2	+	26	2578	c.2436G>A	c.(2434-2436)gtG>gtA	p.V812V	ATP8A2_ENST00000255283.8_Silent_p.V772V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	772					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGAAGCGGGTGAAGGCCATCA	0.547000													35	88					0	0	1	0	0
EMC8	10328	broad.mit.edu	37	16	85832890	85832890	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:85832890C>T	ENST00000253457.3	-	1	256	c.12G>A	c.(10-12)gtG>gtA	p.V4V	EMC8_ENST00000435200.2_Silent_p.V4V	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		TGGTCAGTTTCACCCCGGGCA	0.731000													8	7					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930727	122930727	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:122930727C>G	ENST00000534624.1	-	5	850	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.E192Q|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.E173Q|HSPA8_ENST00000453788.2_Missense_Mutation_p.E192Q|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E192Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	192	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACGTTTCTTTCTGCTCCAACC	0.388000													23	24					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381590	156381590	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:156381590C>A	ENST00000274532.2	-	2	292	c.236G>T	c.(235-237)aGa>aTa	p.R79I	TIMD4_ENST00000407087.3_Missense_Mutation_p.R79I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	79	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGACTTTCTTGAGGTCAC	0.527000													17	87					3.41278e-10	3.58911e-10	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55715224	55715224	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:55715224G>A	ENST00000376350.3	-	5	834	c.812C>T	c.(811-813)tCa>tTa	p.S271L	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	271	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CGTATACAATGACCCGGGTCC	0.507000													81	170					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74943792	74943792	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:74943792C>T	ENST00000262144.6	-	15	1543	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	471	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCACTTTCTGCAGGGCTG	0.488000													11	26					0	0	1	0	0
TMEM30A	55754	broad.mit.edu	37	6	75994263	75994263	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:75994263G>A	ENST00000230461.6	-	1	421	c.92C>T	c.(91-93)aCg>aTg	p.T31M	TMEM30A_ENST00000475111.2_Missense_Mutation_p.T31M	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	31						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGAAGGCCGTGTTATCCGG	0.582000													4	172					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49104486	49104486	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:49104486G>A	ENST00000263266.3	-	5	1506	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	439										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACAGATAGCGGAGGCGGTGGG	0.706000													7	22					0	0	1	0	0
DUSP11	8446	broad.mit.edu	37	2	73989898	73989898	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:73989898A>G	ENST00000272444.3	-	9	1065	c.1024T>C	c.(1024-1026)Tct>Cct	p.S342P	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	295					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ACATTCCAAGAATACCTCCTG	0.473000													27	50					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138958780	138958780	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:138958780G>A	ENST00000473989.3	+	11	1933	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	UBN2_ENST00000288561.8_Missense_Mutation_p.E562K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TATGGAGACAGAAGTGAAGCC	0.353000													5	56					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30804815	30804815	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:30804815G>A	ENST00000375730.3	+	5	596	c.547G>A	c.(547-549)Gag>Aag	p.E183K	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375749.3_Intron	NM_172236.1	NP_758436.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	0					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCTAGGCGTGAGAATCACTC	0.463000													22	256					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6655551	6655551	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:6655551C>T	ENST00000377663.3	-	3	1677	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	KLHL21_ENST00000467612.1_Missense_Mutation_p.M131I|KLHL21_ENST00000463043.1_Missense_Mutation_p.M131I|KLHL21_ENST00000377658.4_Missense_Mutation_p.M498I			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	498					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.M498I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TTACCTGATTCATGGACGGGA	0.552000													17	46					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572359	38572359	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:38572359G>A	ENST00000222345.6	+	3	663	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	52					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTCTTGGCGAGAGCCCGgc	0.711000													13	23					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961739	69961739	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:69961739G>C	ENST00000358913.5	+	18	4135	c.3647G>C	c.(3646-3648)aGa>aCa	p.R1216T	MYPN_ENST00000354393.2_Missense_Mutation_p.R941T|MYPN_ENST00000540630.1_Missense_Mutation_p.R1216T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1216	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			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						CCTTGCACCAGAGAGAGGATC	0.567000													13	90					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877132	39877132	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:39877132G>A	ENST00000530275.1	+	1	982	c.787G>A	c.(787-789)Gac>Aac	p.D263N	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	263										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGCCCTGATGACCCACAGCC	0.512000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	145					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556459	228556459	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:228556459G>A	ENST00000570156.2	+	100	22749	c.22675G>A	c.(22675-22677)Gac>Aac	p.D7559N	OBSCN_ENST00000422127.1_Missense_Mutation_p.D6602N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D4236N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6602	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCCGGGAAGACATTAAAAT	0.577000													86	169					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69962593	69962593	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:69962593C>T	ENST00000355303.5	+	8	1190	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ANO1_ENST00000538023.1_Silent_p.F295F|ANO1_ENST00000316296.5_Silent_p.F267F|ANO1_ENST00000531349.1_Silent_p.F30F|ANO1_ENST00000398543.2_Silent_p.F179F|ANO1_ENST00000530676.1_Silent_p.F179F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	295					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACGTCGAGTTCAACGACAGAA	0.532000													8	22					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130911905	130911905	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:130911905G>A	ENST00000540948.1	+	1	174	c.101G>A	c.(100-102)aGc>aAc	p.S34N	LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.S34N|LCN2_ENST00000372998.1_Missense_Mutation_p.S34N|LCN2_ENST00000373017.1_Missense_Mutation_p.S34N|LCN2_ENST00000277480.2_Missense_Mutation_p.S34N			P80188	NGAL_HUMAN	lipocalin 2	34					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCACCTCTGAGCAAGGTCCCT	0.647000													32	27					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874771	10874771	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:10874771G>A	ENST00000379491.4	-	5	1125	c.978C>T	c.(976-978)ttC>ttT	p.F326F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	326					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTTGTTGGTGAAATCAAAGC	0.463000													59	117					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839478	13839478	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:13839478G>C	ENST00000265104.4	-	35	5973	c.5869C>G	c.(5869-5871)Cca>Gca	p.P1957A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1957	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGTAAGTGGAGTTATTACA	0.418000									Kartagener syndrome				15	71					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123210187	123210187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:123210187C>T	ENST00000371160.1	+	26	2829	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q778*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q847*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	847					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCCAGATGGTCAGCAAGAGGA	0.328000													36	25					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751598	62751598	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:62751598G>A	ENST00000383710.4	-	2	852	c.503C>T	c.(502-504)aCc>aTc	p.T168I	CADPS_ENST00000283269.9_Missense_Mutation_p.T168I|CADPS_ENST00000357948.3_Missense_Mutation_p.T168I|CADPS_ENST00000490353.2_Missense_Mutation_p.T168I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	168					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATGATCTGGGTTTCCCCATT	0.473000													54	98					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55398353	55398353	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:55398353C>T	ENST00000341048.4	-	11	1842	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R276Q|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R521Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	563										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAGGTTGTTCCGAGTGAAAGG	0.368000													11	20					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884244	53884244	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53884244T>G	ENST00000467003.1	+	4	505	c.304T>G	c.(304-306)Tat>Gat	p.Y102D	ZNF525_ENST00000474037.1_Missense_Mutation_p.Y138D|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GCCTATTAAATATCAGCTTGG	0.383000													4	262					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92825209	92825209	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:92825209C>G	ENST00000394468.2	-	8	1284	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E426Q|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.M382I|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E391Q	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	403						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGAGCATCTTCATGGCCTGAA	0.358000													24	85					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4544644	4544644	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:4544644G>C	ENST00000262352.3	+	2	405	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	57					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TTTTCCTGGAGAAATTCTAAT	0.383000													66	70					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75559947	75559947	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:75559947G>A	ENST00000398706.2	+	22	5061	c.4844G>A	c.(4843-4845)gGa>gAa	p.G1615E	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1428E|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1610E|RP11-574K11.31_ENST00000603027.1_Intron	NM_015037.3	NP_055852.2			zinc finger, SWIM-type containing 8																		TGGGGCCAGGGAACAGGTGAA	0.597000													7	41					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93767898	93767898	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:93767898C>G	ENST00000265990.6	+	26	3987	c.3679C>G	c.(3679-3681)Cca>Gca	p.P1227A	BTAF1_ENST00000544642.1_Missense_Mutation_p.P55A	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1227					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCCAGACCCTCCAAACATGTC	0.323000													24	165					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451157	155451157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:155451157G>A	ENST00000368346.3	-	3	2143	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q502*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	502					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGTCTTGCTGAATGCATGTT	0.368000													53	91					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042371	60042371	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:60042371C>T	ENST00000397786.2	-	20	4916	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1614					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						AGGTACCTTTCAGACACATCA	0.418000													6	38					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99228753	99228753	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:99228753G>C	ENST00000438925.2	-	12	1368	c.1033C>G	c.(1033-1035)Ctt>Gtt	p.L345V	MMS19_ENST00000355839.6_Missense_Mutation_p.L302V|MMS19_ENST00000370782.2_Missense_Mutation_p.L345V|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000327238.10_Intron	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	345					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAGGAGTCAAGGAGGTCCTCA	0.602000								Direct reversal of damage					4	9					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870588	129870588	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:129870588G>C	ENST00000373425.3	-	2	1040	c.423C>G	c.(421-423)ctC>ctG	p.L141L	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	141					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCTCGTGCAGGAGCTGCATGT	0.617000													8	35					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377146	54377146	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:54377146C>T	ENST00000391769.2	+	3	643	c.363C>T	c.(361-363)ccC>ccT	p.P121P	MYADM_ENST00000391771.1_Silent_p.P121P|MYADM_ENST00000336967.3_Silent_p.P121P|MYADM_ENST00000391770.4_Silent_p.P121P|MYADM_ENST00000391768.2_Silent_p.P121P	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	121	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCATCTACCCCACCACCTATG	0.652000													27	83					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110428003	110428003	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:110428003G>T	ENST00000506538.2	+	1	590	c.17G>T	c.(16-18)gGc>gTc	p.G6V	WDR36_ENST00000513710.2_Missense_Mutation_p.G6V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	6					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGCACTGAGGGCAGTCTCCGG	0.592000													17	68					6.94344e-10	7.27793e-10	1	1	0
GH2	2689	broad.mit.edu	37	17	61957719	61957719	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:61957719C>T	ENST00000423893.2	-	5	677	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.V191M|GH2_ENST00000456543.2_Silent_p.S204S			P01242	SOM2_HUMAN	growth hormone 2	206						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CGGCACTGCACGATGCGCAGG	0.592000													14	82					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25928587	25928587	+	Missense_Mutation	SNP	G	G	A	rs3891772		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:25928587G>A	ENST00000356865.6	-	17	3449	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1113					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTAGATGCAGAGAAGCCACA	0.498000													3	38					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103550655	103550655	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:103550655C>T	ENST00000361464.3	-	14	2847	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E751K|MGEA5_ENST00000439817.1_Missense_Mutation_p.E765K	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	818	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTATTACCTCAGCCTCAGAG	0.308000													41	122					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154401737	154401737	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:154401737G>C	ENST00000368485.3	+	2	588	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	IL6R_ENST00000344086.4_Missense_Mutation_p.E51Q	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	51	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCGGGGGTAGAGCCGGAAGA	0.642000													17	54					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152536438	152536438	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:152536438G>C	ENST00000397345.3	-	31	3343	c.3141C>G	c.(3139-3141)atC>atG	p.I1047M	NEB_ENST00000603639.1_Missense_Mutation_p.I1047M|NEB_ENST00000409198.1_Missense_Mutation_p.I1047M|NEB_ENST00000172853.10_Missense_Mutation_p.I1047M|NEB_ENST00000427231.2_Missense_Mutation_p.I1047M|NEB_ENST00000604864.1_Missense_Mutation_p.I1047M	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1047					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCACCTCACTGATATTGTAGG	0.428000													16	36					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612791	53612791	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53612791G>A	ENST00000455735.2	-	7	971	c.651C>T	c.(649-651)gtC>gtT	p.V217V	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.V169V|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.V156V|ZNF415_ENST00000421033.1_Silent_p.V181V|ZNF415_ENST00000448501.1_Silent_p.V217V|ZNF415_ENST00000243643.4_Silent_p.V169V|ZNF415_ENST00000601493.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AACCATGGTTGACAGACTTCT	0.383000													25	143					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55136180	55136180	+	Translation_Start_Site	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:55136180A>T	ENST00000454855.2	+	0	328				MROH7_ENST00000545244.1_Missense_Mutation_p.Q35L|MROH7_ENST00000421030.2_Missense_Mutation_p.Q467L|MROH7_ENST00000339553.5_Missense_Mutation_p.Q467L|MROH7_ENST00000409996.1_Missense_Mutation_p.Q35L|MROH7_ENST00000395690.2_Missense_Mutation_p.Q467L|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.Q467L					maestro heat-like repeat family member 7																		AGGCAGATCCAGGAGGAGCCA	0.642000													5	18					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72141361	72141361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:72141361G>A	ENST00000437826.2	-	2	357	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	CLPB_ENST00000294053.3_Silent_p.V150V|CLPB_ENST00000445069.2_Silent_p.V46V|CLPB_ENST00000340729.5_Silent_p.V150V|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000538039.1_Silent_p.V150V|CLPB_ENST00000542555.1_5'UTR			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTCACCTGCTGACTTCTTGCA	0.562000													5	9					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949466	75949466	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:75949466G>T	ENST00000308527.5	+	2	2832	c.1635G>T	c.(1633-1635)atG>atT	p.M545I		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	545	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCAAGCACATGATGCAGAACT	0.617000													24	138					2.89027e-11	3.06514e-11	1	1	0
LACE1	246269	broad.mit.edu	37	6	108840996	108840996	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:108840996G>C	ENST00000368977.4	+	12	1486	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	434							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACTGATGGATGATTTGGGGCT	0.378000													45	42					0	0	1	0	0
ATAD1	84896	broad.mit.edu	37	10	89550137	89550137	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:89550137T>A	ENST00000308448.7	-	4	690	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ATAD1_ENST00000541004.1_Missense_Mutation_p.K104N|ATAD1_ENST00000400215.3_Missense_Mutation_p.K46N|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Missense_Mutation_p.K104N	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	104						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		TGACTGTGTCTTTCAGATCCG	0.373000													9	81					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83828976	83828976	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:83828976G>C	ENST00000302236.5	+	4	670	c.619G>C	c.(619-621)Gag>Cag	p.E207Q		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	207							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGAAACAGATGAGTACTCCGC	0.303000													8	51					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667231	667231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:667231C>T	ENST00000266383.5	+	17	2597	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	862						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCTGGACTTCAGGCTGGCAT	0.542000													37	56					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													10	99					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75576812	75576812	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:75576812C>G	ENST00000423381.1	-	21	1626	c.1503G>C	c.(1501-1503)ggG>ggC	p.G501G	CAMK2G_ENST00000322635.3_Silent_p.G440G|CAMK2G_ENST00000322680.3_Silent_p.G469G|CAMK2G_ENST00000351293.3_Silent_p.G408G|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.G429G|CAMK2G_ENST00000305762.7_Silent_p.G442G|CAMK2G_ENST00000394762.2_Silent_p.G446G	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	471					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GGAAATCCATCCCCTCCACGA	0.493000													57	188					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020636	5020636	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:5020636A>G	ENST00000382545.3	+	2	1199	c.92A>G	c.(91-93)gAc>gGc	p.D31G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	31					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCGACCACGACGACCACGAG	0.682000													10	51					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89415281	89415281	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:89415281G>A	ENST00000439576.2	+	15	7527	c.7153G>A	c.(7153-7155)Gaa>Aaa	p.E2385K	ACAN_ENST00000352105.7_Missense_Mutation_p.E2347K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2347K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2385K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2385					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGGACCATCGAAGGGGACTT	0.602000													7	89					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40646727	40646727	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:40646727G>A	ENST00000298910.7	+	11	1255	c.1197G>A	c.(1195-1197)agG>agA	p.R399R	LRRK2_ENST00000343742.2_Silent_p.R399R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	399					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGCTCATAGGGAAGTGATGC	0.348000													10	46					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15613942	15613942	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:15613942G>A	ENST00000341285.3	-	10	2070	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	FBXL5_ENST00000412094.2_Missense_Mutation_p.S632L|FBXL5_ENST00000382358.4_Missense_Mutation_p.S523L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	649					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGGACATGCTGAAACCAAATC	0.398000													32	106					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907944	12907944	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:12907944C>T	ENST00000317869.6	-	2	424	c.199G>A	c.(199-201)Gta>Ata	p.V67I		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTCCTGCTACAGCAGCCCGG	0.488000													46	295					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201751631	201751631	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:201751631C>T	ENST00000367296.4	+	6	2411	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	NAV1_ENST00000367302.1_Missense_Mutation_p.A677V|NAV1_ENST00000367297.4_Missense_Mutation_p.A664V|NAV1_ENST00000367300.3_Missense_Mutation_p.A664V|NAV1_ENST00000367295.1_Missense_Mutation_p.A273V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.A664V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	664					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTCCTGGAGCCCGTTCTAAC	0.597000													38	79					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34821842	34821842	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:34821842G>A	ENST00000265109.3	+	14	1287	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	RAI14_ENST00000428746.2_Missense_Mutation_p.D334N|RAI14_ENST00000506376.1_Missense_Mutation_p.D326N|RAI14_ENST00000397449.1_Missense_Mutation_p.D327N|RAI14_ENST00000503673.1_Missense_Mutation_p.D334N|RAI14_ENST00000512629.1_Missense_Mutation_p.D305N|RAI14_ENST00000515799.1_Missense_Mutation_p.D337N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	334						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCAAGGTGCTGATAGCTTATT	0.358000													27	106					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5696311	5696311	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:5696311C>G	ENST00000360614.3	-	12	2002	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	LONP1_ENST00000540670.2_Missense_Mutation_p.Q419H|LONP1_ENST00000585374.1_Missense_Mutation_p.Q501H|LONP1_ENST00000593119.1_Missense_Mutation_p.Q551H|LONP1_ENST00000590729.1_Missense_Mutation_p.Q485H	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	615					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTTGGCATTCTGCTCTGGGT	0.672000													10	46					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75177066	75177066	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:75177066C>G	ENST00000336926.6	-	24	2478	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q	HIP1_ENST00000434438.2_Intron	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	818	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCATTCACCTCCAATTTGACT	0.453000			T	PDGFRB	CMML								47	214					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828812	72828812	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:72828812G>A	ENST00000268489.5	-	9	8441	c.7769C>T	c.(7768-7770)tCt>tTt	p.S2590F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1676F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2590					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TATGGCCCCAGAGAGCAGCTG	0.532000													65	127					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884834	53884834	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53884834G>A	ENST00000467003.1	+	4	1095	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ZNF525_ENST00000355326.3_Silent_p.K52K|ZNF525_ENST00000474037.1_Silent_p.K334K|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						AGTGTGGCAAGACCTTTAGTC	0.393000													12	115					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498760	43498760	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:43498760G>A	ENST00000300215.3	-	10	1933	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	EPB42_ENST00000441366.2_Silent_p.N462N|EPB42_ENST00000540029.1_Silent_p.N384N			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	462					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GACGGATGCCGTTGTCTTTCT	0.522000													30	166					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35288353	35288353	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:35288353G>C	ENST00000408931.3	-	3	1007	c.481C>G	c.(481-483)Cgc>Ggc	p.R161G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	161						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TAGGCGTAGCGGTACCTCTTG	0.577000													16	68					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26430387	26430387	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:26430387G>A	ENST00000342320.4	+	8	966	c.790G>A	c.(790-792)Gat>Aat	p.D264N	RBPJ_ENST00000507561.1_Missense_Mutation_p.D243N|RBPJ_ENST00000361572.6_Missense_Mutation_p.D278N|RBPJ_ENST00000345843.3_Missense_Mutation_p.D263N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D264N|RBPJ_ENST00000348160.4_Missense_Mutation_p.D265N|RBPJ_ENST00000504907.1_Missense_Mutation_p.D264N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D278N			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	278					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GGATGCAGATGATCCTGTGTC	0.328000													29	35					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186330008	186330008	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:186330008C>G	ENST00000367478.4	-	10	1284	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.E331*(1)|p.E330*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCCACCTCTAGAAGATGA	0.323000			T	NTRK1	papillary thyroid								25	40					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60038445	60038445	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:60038445C>G	ENST00000397786.2	-	23	5339	c.5263G>C	c.(5263-5265)Gag>Cag	p.E1755Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1755					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						CGAATACACTCTGGTCTCTAT	0.313000													11	50					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333944	70333944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:70333944C>T	ENST00000373644.4	+	2	2058	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	617	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAACAGCCATCAGATCTGTAA	0.463000													25	85					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145608422	145608422	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:145608422G>C	ENST00000308860.6	+	3	301	c.257G>C	c.(256-258)cGc>cCc	p.R86P	ADCK5_ENST00000532190.1_Missense_Mutation_p.R86P|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	86						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCATGGGGCGCTTTGGCAGG	0.692000													6	14					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44914486	44914486	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:44914486G>A	ENST00000261866.7	-	13	2392	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	SPG11_ENST00000535302.2_Silent_p.F792F|SPG11_ENST00000427534.2_Silent_p.F792F|SPG11_ENST00000558319.1_Silent_p.F792F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	792					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTGATGCACGAAGTCTATAG	0.279000													6	80					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150310665	150310665	+	RNA	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:150310665G>A	ENST00000520773.1	-	0	2656																											ACATTTATAGGGTTTCTCTCC	0.418000													5	24					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29158441	29158441	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:29158441C>T	ENST00000407426.3	+	12	1548	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ATTAAGGATGCCCCTGCATAC	0.338000													24	46					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830215	231830215	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:231830215C>T	ENST00000439617.2	+	2	764	c.711C>T	c.(709-711)tcC>tcT	p.S237S	DISC1_ENST00000366636.4_Silent_p.S237S|DISC1_ENST00000537876.1_Silent_p.S237S|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.S237S|DISC1_ENST00000366633.3_Silent_p.S237S|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Silent_p.S237S|DISC1_ENST00000539444.1_Silent_p.S237S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.S237S	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	237	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGCTGAGTCCCATTGCCAGA	0.602000													27	23					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675786	22675786	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:22675786T>A	ENST00000376603.2	+	5	946	c.804T>A	c.(802-804)agT>agA	p.S268R	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.S192R|SPAG6_ENST00000376624.3_Missense_Mutation_p.S192R|SPAG6_ENST00000538630.1_Missense_Mutation_p.S167R			O75602	SPAG6_HUMAN	sperm associated antigen 6	192					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGGCCCTCAGTGATATTGCAA	0.468000													34	74					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744149	98744149	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:98744149G>C	ENST00000286067.2	+	1	3109	c.3002G>C	c.(3001-3003)aGa>aCa	p.R1001T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1001										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGATTCTTAGAAAATATTCC	0.468000													15	87					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110467773	110467773	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:110467773C>T	ENST00000329608.6	+	8	2018	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	CSF1_ENST00000420111.2_Silent_p.L245L|CSF1_ENST00000369802.3_Silent_p.L543L|CSF1_ENST00000344188.5_Silent_p.L427L|CSF1_ENST00000369801.1_Silent_p.L427L	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	543					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCAGCCCCCTGACTCAGGA	0.502000													15	90					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130884307	130884307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:130884307C>T	ENST00000383366.4	+	12	1413	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	NEK11_ENST00000511262.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.R374*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.R269*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.R374*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.R226*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.R374*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	374					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAATAGCAAACGAATGCAAGA	0.294000													11	52					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174974	51174974	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:51174974C>G	ENST00000440970.1	-	2	1299	c.868G>C	c.(868-870)Gcg>Ccg	p.A290P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.A387P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	387					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGATTAGACGCAGGACTTAAT	0.502000													15	79					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12474396	12474396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:12474396G>C	ENST00000242804.4	-	3	632	c.50C>G	c.(49-51)tCt>tGt	p.S17C	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATTAGTCTGAGAGTCAGGAAG	0.488000													20	176					0	0	1	0	0
CLIC4	25932	broad.mit.edu	37	1	25124242	25124242	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:25124242G>T	ENST00000374379.4	+	2	279	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	28	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGCTGGCAGTGATGGTGAAAG	0.383000													32	42					5.8336e-16	6.30309e-16	1	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269905	150269905	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:150269905G>C	ENST00000255945.2	+	3	922	c.747G>C	c.(745-747)gaG>gaC	p.E249D	GIMAP4_ENST00000461940.1_Missense_Mutation_p.E263D|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	249							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGCTGGAGAGAGAGAAAG	0.458000													18	24					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48537884	48537884	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:48537884G>C	ENST00000340802.6	+	22	2373	c.2149G>C	c.(2149-2151)Gag>Cag	p.E717Q	PFKM_ENST00000395233.2_Missense_Mutation_p.E615Q|PFKM_ENST00000312352.7_Missense_Mutation_p.E646Q|PFKM_ENST00000359794.5_Missense_Mutation_p.E646Q|PFKM_ENST00000547587.1_Missense_Mutation_p.E646Q|PFKM_ENST00000551804.1_Missense_Mutation_p.E615Q	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	646					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGTACTCTGAGGAGGGGAA	0.502000													53	95					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382962	135382962	+	Splice_Site	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:135382962G>T	ENST00000442011.2	+	6	785		c.e6-1		TGFBI_ENST00000305126.8_Splice_Site	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa						angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCTGGGCAGATTGTAACTG	0.517000													35	65					6.02846e-25	6.61557e-25	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120766	38120766	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:38120766C>T	ENST00000406386.3	+	7	2458	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	735					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R735C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCGCAACAGAAC	0.572000													25	110					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383292	85383292	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:85383292C>G	ENST00000258888.5	+	5	1555	c.1388C>G	c.(1387-1389)tCa>tGa	p.S463*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	463					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTCAGCACTCAGGTTTGGGC	0.637000													9	23					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131763856	131763856	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:131763856G>C	ENST00000372577.2	+	35	3913	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1298					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGAGGTAGACGAGGATGGTGA	0.587000													14	25					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71753416	71753416	+	Missense_Mutation	SNP	G	G	A	rs150724610	byFrequency	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:71753416G>A	ENST00000258104.3	+	12	1397	c.1120G>A	c.(1120-1122)Gta>Ata	p.V374I	DYSF_ENST00000409366.1_Missense_Mutation_p.V375I|DYSF_ENST00000429174.2_Missense_Mutation_p.V374I|DYSF_ENST00000410020.3_Missense_Mutation_p.V406I|DYSF_ENST00000409744.1_Missense_Mutation_p.V375I|DYSF_ENST00000413539.2_Missense_Mutation_p.V405I|DYSF_ENST00000409582.3_Missense_Mutation_p.V405I|DYSF_ENST00000409651.1_Missense_Mutation_p.V406I|DYSF_ENST00000394120.2_Missense_Mutation_p.V375I|DYSF_ENST00000409762.1_Missense_Mutation_p.V405I|DYSF_ENST00000410041.1_Missense_Mutation_p.V406I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	374	C2 3.		V -> L (in MMD1; uncertain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCACAGGCGTAGCCCTGCG	0.597000													67	102					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119087300	119087300	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:119087300C>G	ENST00000264245.4	+	3	817	c.285C>G	c.(283-285)tgC>tgG	p.C95W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	95	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCTCGCTTTGCAAGCTCTACT	0.498000													31	77					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427720	104427720	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:104427720G>A	ENST00000297579.5	+	1	779	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	DCAF13_ENST00000519682.1_Missense_Mutation_p.E12K|DCAF13_ENST00000521716.1_Missense_Mutation_p.E12K|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521971.1_Missense_Mutation_p.E12K	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	16					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTATGTCCGCGAAACCAAGTT	0.552000													19	20					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334186	210334186	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:210334186T>A	ENST00000537238.1	+	9	1744	c.1353T>A	c.(1351-1353)ttT>ttA	p.F451L	SYT14_ENST00000367019.1_Missense_Mutation_p.F508L|SYT14_ENST00000472886.1_Missense_Mutation_p.F489L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.F451L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.F515L|SYT14_ENST00000422431.1_Missense_Mutation_p.F553L	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	489	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CTTTTGTCTTTCAAGTGGCCC	0.408000													29	107					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252787	124252787	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:124252787C>T	ENST00000375013.2	-	1	471	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGCCAATCCCATTATGTAAG	0.488000													18	12					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267552	7267552	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:7267552G>C	ENST00000341500.5	-	2	495	c.456C>G	c.(454-456)ctC>ctG	p.L152L	INSR_ENST00000302850.5_Silent_p.L152L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	152					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAAGTAACAGAGCTCATTGT	0.502000													38	69					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155837928	155837928	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:155837928C>T	ENST00000368324.4	+	2	460	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	69						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGAGACCCTCAGCAACAAGA	0.517000													42	46					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74080125	74080125	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:74080125C>T	ENST00000607838.1	-	19	2077	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	EXOC7_ENST00000467929.2_Silent_p.K610K|EXOC7_ENST00000405575.4_Silent_p.K647K|EXOC7_ENST00000411744.2_Silent_p.K630K|EXOC7_ENST00000589210.1_Silent_p.K638K|EXOC7_ENST00000335146.7_Silent_p.K689K|EXOC7_ENST00000332065.5_Silent_p.K607K	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	689					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGACAATGGTCTTCTGGGCCT	0.582000													10	23					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30738222	30738222	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:30738222C>T	ENST00000215793.8	-	6	998	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	SF3A1_ENST00000439242.1_Missense_Mutation_p.V217M	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ACTGTTTCCACCACCACAAAA	0.537000													23	69					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46270406	46270406	+	Missense_Mutation	SNP	C	C	T	rs148645884	byFrequency	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:46270406C>T	ENST00000317578.6	-	2	1192	c.811G>A	c.(811-813)Gat>Aat	p.D271N	SIX5_ENST00000560168.1_Silent_p.*70*|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	271						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGATTCCCATCAGACTCGCTG	0.672000													10	16					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67283764	67283764	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:67283764C>A	ENST00000355520.5	-	21	2731	c.2090G>T	c.(2089-2091)gGg>gTg	p.G697V	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	697	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTTGGTGGGCCCAGAGCCTGG	0.622000													6	3					2.0095e-06	2.07868e-06	1	1	0
LMO3	55885	broad.mit.edu	37	12	16753650	16753650	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:16753650C>G	ENST00000320122.6	-	2	667	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	LMO3_ENST00000441439.2_Missense_Mutation_p.E49Q|LMO3_ENST00000354662.1_Missense_Mutation_p.E49Q|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000535535.1_Missense_Mutation_p.E49Q|LMO3_ENST00000534946.1_Missense_Mutation_p.E49Q|LMO3_ENST00000541295.1_Missense_Mutation_p.E67Q|LMO3_ENST00000537304.1_Missense_Mutation_p.E49Q|LMO3_ENST00000447609.1_Missense_Mutation_p.E49Q|LMO3_ENST00000261169.6_Missense_Mutation_p.E60Q|LMO3_ENST00000540445.1_Missense_Mutation_p.E49Q|LMO3_ENST00000541846.1_Missense_Mutation_p.E49Q|LMO3_ENST00000540848.1_Missense_Mutation_p.E49Q	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	49	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GAGCCCACCTCTCCCAAGCGA	0.498000													12	82					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44966653	44966653	+	Splice_Site	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:44966653A>T	ENST00000377967.4	+	27	3919		c.e27-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCCCACAATAGGTATTGTCT	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								38	21					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42962332	42962332	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:42962332G>C	ENST00000327678.5	+	9	738	c.636G>C	c.(634-636)caG>caC	p.Q212H	SERHL2_ENST00000407614.4_Missense_Mutation_p.Q32H|SERHL2_ENST00000340239.4_Intron|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Missense_Mutation_p.Q148H	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	212						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						ACAGAGACCAGAGGCTCGCCT	0.582000													24	106					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427163	6427163	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:6427163C>G	ENST00000321510.6	-	6	959	c.891G>C	c.(889-891)caG>caC	p.Q297H		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						AGCTGGCCATCTGGCCACAGG	0.647000													7	17					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965874	88965874	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:88965874C>T	ENST00000333190.4	+	4	4187	c.3578C>T	c.(3577-3579)tCa>tTa	p.S1193L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1193						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTCCGGCCTCAACCGTACAG	0.502000										HNSCC(36;0.09)			26	70					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851191	155851191	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:155851191G>A	ENST00000368324.4	+	4	1441	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	SYT11_ENST00000539162.1_Silent_p.L89L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	396	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGGGGAGGCTGATCCTGGGGG	0.587000													97	134					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910644	38910644	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:38910644C>A	ENST00000312150.4	-	2	566	c.506G>T	c.(505-507)aGa>aTa	p.R169I		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	169	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTACTTGAGTCTGAAATCATC	0.378000													21	50					5.45024e-15	5.86877e-15	1	1	0
CD46	4179	broad.mit.edu	37	1	207963646	207963646	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:207963646C>G	ENST00000358170.2	+	13	1332	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L	CD46_ENST00000367042.1_Silent_p.L377L|CD46_ENST00000469535.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000367041.1_Silent_p.L362L|CD46_ENST00000354848.1_Intron|CD46_ENST00000357714.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	392					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTACTTCTCTCTGAGAAGGAG	0.338000													24	109					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	472996	472996	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:472996C>G	ENST00000217244.3	-	9	898	c.523G>C	c.(523-525)Gac>Cac	p.D175H	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D39H|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D175H|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D175H	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	175	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAACCCCAGTCTATTAGTCGT	0.403000													22	23					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752614	201752614	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:201752614C>T	ENST00000367296.4	+	7	2858	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	NAV1_ENST00000367302.1_Missense_Mutation_p.S826L|NAV1_ENST00000367297.4_Missense_Mutation_p.S813L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.S813L|NAV1_ENST00000367295.1_Missense_Mutation_p.S422L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S813L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	813					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCTACCATCATCCAGTGAT	0.532000													134	197					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178040553	178040553	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:178040553G>A	ENST00000316308.4	-	7	915	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	249	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTCTTTAATGAAATCGTAAG	0.378000													27	46					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96827082	96827082	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:96827082G>A	ENST00000375360.3	+	2	401	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	21							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GAATAACAGCGAGTGTGTTGC	0.363000													19	27					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241902	65241902	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:65241902C>T	ENST00000389722.3	-	22	4836	c.4783G>A	c.(4783-4785)Gag>Aag	p.E1595K	SPTB_ENST00000389720.3_Missense_Mutation_p.E1595K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1595K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1595K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1595K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1595					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTCAGCCTCGTCTGCATCC	0.657000													29	76					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:25978935C>T	ENST00000435504.4	-	10	1281	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ASXL2_ENST00000336112.4_Missense_Mutation_p.E302K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E70K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E70Q(1)|p.E330Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448000													23	81					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	64961105	64961105	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:64961105C>T	ENST00000262138.3	+	1	80	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	26					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCATGGCCATCGCCATCGGCA	0.711000													9	27					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990386	205990386	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:205990386C>T	ENST00000406610.2	+	10	1566	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	PARD3B_ENST00000358768.2_Silent_p.L453L|PARD3B_ENST00000351153.1_Silent_p.L453L|PARD3B_ENST00000349953.3_Silent_p.L453L|PARD3B_ENST00000462231.1_Silent_p.L453L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	453	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGCCATGCTCAGGAGCACCA	0.488000													19	99					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820372	104820372	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:104820372C>T	ENST00000444739.2	-	5	1589	c.679G>A	c.(679-681)Gat>Aat	p.D227N	CASP4_ENST00000393150.3_Missense_Mutation_p.D171N	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	227					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGCAGCACATCTGGTTTTTTC	0.493000													25	77					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154138908	154138908	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:154138908G>A	ENST00000389740.2	-	3	1642	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	515						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L515L(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATGAGACAGTCTTCTTTCT	0.403000													32	152					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46328488	46328488	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:46328488C>T	ENST00000245934.7	-	18	2675	c.2431G>A	c.(2431-2433)Gtg>Atg	p.V811M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	811					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAGTGTACACGGCCGCCAGT	0.647000													27	55					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718164	46718164	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:46718164C>T	ENST00000318962.4	-	18	2079	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E13K|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E666K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	666					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCTTGGGCTCCCGGTGCTGC	0.637000													12	43					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17692013	17692013	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:17692013C>G	ENST00000252599.4	+	12	1749	c.1629C>G	c.(1627-1629)ctC>ctG	p.L543L		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		ACTTCTCCCTCCGCAACCTGC	0.597000													109	206					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519706	23519706	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:23519706G>A	ENST00000374619.1	-	1	1516	c.1007C>T	c.(1006-1008)gCg>gTg	p.A336V	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336V	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTCAAAGAGCGCCGGGTGGAT	0.507000													25	80					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996592	10996592	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:10996592C>G	ENST00000324288.8	+	8	839	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	CIITA_ENST00000381835.5_Missense_Mutation_p.L187V|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	236					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CATCTCCACTCTGCCCCATGG	0.577000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								12	68					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805359	39805359	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:39805359G>A	ENST00000248668.4	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	206						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAAGCTGCACGAAGGTCCCCT	0.647000													15	27					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155090349	155090349	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:155090349G>C	ENST00000340368.4	+	2	565	c.354G>C	c.(352-354)gtG>gtC	p.V118V	INSIG1_ENST00000342407.5_Silent_p.V118V|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	118					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGAGGAGGTGATCGCCACCA	0.597000													3	20					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289288	33289288	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:33289288G>C	ENST00000374542.5	-	3	468	c.264C>G	c.(262-264)ctC>ctG	p.L88L	DAXX_ENST00000266000.6_Silent_p.L88L|DAXX_ENST00000414083.2_Silent_p.L13L|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	88	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGGTTATAGAGGAATGGGA	0.567000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								20	97					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505178	70505178	+	Missense_Mutation	SNP	C	C	T	rs141951097		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:70505178C>T	ENST00000310961.5	+	22	3990	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	LRRC7_ENST00000415775.2_Missense_Mutation_p.A470V|LRRC7_ENST00000035383.5_Missense_Mutation_p.A1186V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1186						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGCTCAGGCGGGAAGTTTT	0.488000													4	56					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4031860	4031860	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:4031860C>G	ENST00000337659.6	+	2	209	c.109C>G	c.(109-111)Caa>Gaa	p.Q37E	PRPF4B_ENST00000538861.1_Missense_Mutation_p.Q23E	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	37						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGACCAGTCTCAAAATAAGCA	0.289000													20	75					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7590028	7590028	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:7590028C>G	ENST00000264079.6	+	2	338	c.213C>G	c.(211-213)gtC>gtG	p.V71V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	71					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCAAGTGGTCAAGATCCTGG	0.572000													16	43					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968680	69968680	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:69968680G>A	ENST00000299293.2	+	10	1982	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	FRS2_ENST00000397997.2_Missense_Mutation_p.R491Q|FRS2_ENST00000549921.1_Missense_Mutation_p.R491Q|FRS2_ENST00000550389.1_Missense_Mutation_p.R491Q	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	491					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R491Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCACTGCCACGAGATGATGGT	0.458000													43	68					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48652418	48652418	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:48652418C>G	ENST00000376670.3	+	6	1200	c.1089C>G	c.(1087-1089)ctC>ctG	p.L363L	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	363					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CTGCCCATCTCTACCAAGGCC	0.652000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								8	7					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42941053	42941053	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:42941053G>A	ENST00000426333.2	-	15	1680	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	EFTUD2_ENST00000591382.1_Silent_p.L461L|EFTUD2_ENST00000592576.1_Silent_p.L451L|EFTUD2_ENST00000402521.3_Silent_p.L426L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	461						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TAGCCTCGCCGAGGTCGGAGT	0.557000													44	50					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139823	140139823	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:140139823G>C	ENST00000344774.4	-	3	512	c.458C>G	c.(457-459)cCa>cGa	p.P153R	FAM166A_ENST00000388932.2_Missense_Mutation_p.P153R	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	153										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCCGTATACTGGGTGTCCCAA	0.647000													28	39					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576409	71576409	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:71576409C>T	ENST00000409544.1	+	2	955	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	ZNF638_ENST00000264447.4_Missense_Mutation_p.H109Y|ZNF638_ENST00000355812.3_Missense_Mutation_p.H109Y|ZNF638_ENST00000377802.2_Missense_Mutation_p.H109Y|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	109					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGATGAGCCTCATATATCTGC	0.458000													24	73					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560501	1560501	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:1560501G>A	ENST00000357210.4	+	6	1047	c.831G>A	c.(829-831)gtG>gtA	p.V277V	MIB2_ENST00000355826.5_Silent_p.V320V|MIB2_ENST00000504599.1_Silent_p.V233V|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000360522.4_Silent_p.V277V|MIB2_ENST00000505820.2_Silent_p.V334V|MIB2_ENST00000520777.1_Silent_p.V334V|MIB2_ENST00000378710.3_Silent_p.V277V|MIB2_ENST00000378708.1_Silent_p.V219V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	277	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGCAAGGTGGACCTCAAGT	0.617000													15	59					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82031655	82031655	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:82031655G>A	ENST00000395578.1	-	15	2003	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	PRKG2_ENST00000264399.1_Silent_p.F629F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.F600F|PRKG2_ENST00000545647.1_Silent_p.F209F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	629	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATCCACACTGAAGTCATGTC	0.438000													15	50					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553172	140553172	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:140553172C>T	ENST00000231137.3	+	1	930	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGTGCCCGAAAATAGCC	0.522000													10	97					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42647387	42647387	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:42647387G>A	ENST00000347667.5	+	8	1706	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000330333.6_Missense_Mutation_p.E465K	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GTCTTTGAGCGAGCCCATTTT	0.547000													17	72					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320374	38320374	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:38320374G>T	ENST00000379705.3	-	3	1454	c.597C>A	c.(595-597)atC>atA	p.I199I	TRPC4_ENST00000379681.3_Silent_p.I199I|TRPC4_ENST00000358477.2_Silent_p.I199I|TRPC4_ENST00000426868.2_Silent_p.I199I|TRPC4_ENST00000355779.2_Silent_p.I199I|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.I199I|TRPC4_ENST00000447043.1_Silent_p.I199I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	199					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGCCTTGTAGATGTTGAGTC	0.532000													35	112					6.00712e-18	6.53534e-18	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7405017	7405017	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:7405017G>A	ENST00000322644.6	+	14	2717	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTCGTGTCCGGAGCTAAAGGT	0.483000													36	27					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561847	147561847	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:147561847G>A	ENST00000281321.3	+	2	1365	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	373					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCCCTCCTCTGAAAAGATCGC	0.557000													20	108					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4488550	4488550	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:4488550G>C	ENST00000237837.1	-	1	344	c.199C>G	c.(199-201)Cag>Gag	p.Q67E		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGATGGTCTGATGGGGTGCG	0.587000													47	77					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836394	68836394	+	Missense_Mutation	SNP	C	C	T	rs41539891		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:68836394C>T	ENST00000374552.4	+	1	484	c.242C>T	c.(241-243)tCg>tTg	p.S81L	EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.S81L|EDA_ENST00000525810.1_Missense_Mutation_p.S81L|EDA_ENST00000338901.3_Missense_Mutation_p.S81L|EDA_ENST00000524573.1_Missense_Mutation_p.S81L|EDA_ENST00000527388.1_Missense_Mutation_p.S81L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	81					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTTGGCGGCTCGGGCACCCCT	0.677000													8	19					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:26688465G>A	ENST00000436292.1	-	7	1372	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	ZNF683_ENST00000403843.1_Missense_Mutation_p.R418C|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398C|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398C			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													14	87					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408753	178408753	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:178408753G>A	ENST00000231188.5	-	10	2717	c.2539C>T	c.(2539-2541)Cca>Tca	p.P847S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P847S	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	847					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TTCTGCTCTGGATGGAAGAGG	0.597000													36	128					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152793464	152793464	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:152793464G>C	ENST00000367255.5	-	15	2036	c.1435C>G	c.(1435-1437)Cct>Gct	p.P479A	SYNE1_ENST00000413186.2_Missense_Mutation_p.P479A|SYNE1_ENST00000495090.2_Missense_Mutation_p.P46A|SYNE1_ENST00000448038.1_Missense_Mutation_p.P486A|SYNE1_ENST00000367253.4_Missense_Mutation_p.P479A|SYNE1_ENST00000466159.2_Missense_Mutation_p.P479A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P486A|SYNE1_ENST00000367248.3_Missense_Mutation_p.P469A|SYNE1_ENST00000265368.4_Missense_Mutation_p.P479A|SYNE1_ENST00000423061.1_Missense_Mutation_p.P486A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	479					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTGATCAGGTGGCACTGGA	0.403000										HNSCC(10;0.0054)			33	23					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552182	178552182	+	Splice_Site	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:178552182C>A	ENST00000251582.7	-	19	2852		c.e19-1			NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2						collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTGACCCACCTGCCAGGGCA	0.667000													18	106					5.3912e-06	5.54951e-06	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73735784	73735784	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:73735784G>A	ENST00000200181.3	+	19	2439	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R751Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.R751Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R751Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R751Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	751					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGCAACCGAGGTATGGGC	0.647000													9	77					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43529125	43529125	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:43529125C>G	ENST00000401740.1	-	2	251	c.148G>C	c.(148-150)Gat>Cat	p.D50H	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.D50H|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	50	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGAAGAACATCCTTCCCCTCG	0.463000													113	316					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121678866	121678866	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:121678866G>A	ENST00000393386.2	+	19	5836	c.5425G>A	c.(5425-5427)Gaa>Aaa	p.E1809K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E942K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1809	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCCACAGCTGAAGATTTCTG	0.378000													26	61					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110238505	110238505	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:110238505G>A	ENST00000418703.2	-	4	865	c.771C>T	c.(769-771)ctC>ctT	p.L257L	TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Silent_p.L257L|TRPV4_ENST00000537083.1_Silent_p.L257L|TRPV4_ENST00000536838.1_Silent_p.L223L|TRPV4_ENST00000346520.2_Silent_p.L257L|TRPV4_ENST00000544971.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	257					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTGGGCCACGAGAAGTTCCA	0.637000													12	56					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999120	100999120	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:100999120C>T	ENST00000325455.5	-	1	2135	c.682G>A	c.(682-684)Gag>Aag	p.E228K	PGR_ENST00000263463.5_Missense_Mutation_p.E228K|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	228	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCCTCGGACTCAGAGCCATCC	0.726000													11	15					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73441448	73441448	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:73441448C>T	ENST00000389501.4	+	1	99	c.54C>T	c.(52-54)cgC>cgT	p.R18R		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	18							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGGCGGGCCGCGCGCGGGTCT	0.697000													49	164					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344684	38344684	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:38344684G>A	ENST00000374618.3	+	5	1810	c.1632G>A	c.(1630-1632)caG>caA	p.Q544Q	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.Q543Q|ZNF33A_ENST00000432900.2_Silent_p.Q550Q|ZNF33A_ENST00000307441.9_Silent_p.Q543Q	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAGTACATCAGAGAACACACA	0.438000													24	167					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89890156	89890156	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:89890156G>C	ENST00000435811.1	-	8	1404	c.950C>G	c.(949-951)tCc>tGc	p.S317C	GABRR1_ENST00000454853.2_Missense_Mutation_p.S334C|GABRR1_ENST00000369451.3_Missense_Mutation_p.S247C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	334					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GCGCGGCATGGAGGCATTCAC	0.527000													18	40					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919550	39919550	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:39919550C>G	ENST00000393931.3	-	8	1300	c.1182G>C	c.(1180-1182)aaG>aaC	p.K394N	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.K394N|JUP_ENST00000310706.5_Missense_Mutation_p.K394N	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	394					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGAATCTTCAGCACAC	0.577000													33	33					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116333	15116333	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:15116333C>G	ENST00000253699.3	-	14	1924	c.1311G>C	c.(1309-1311)ttG>ttC	p.L437F	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L437F	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	437	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CAGCCTTTCTCAAGGGGGCAG	0.627000													23	91					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183947620	183947620	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:183947620C>T	ENST00000361927.4	-	2	669	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	COLGALT2_ENST00000546159.1_Missense_Mutation_p.E100K	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CTGAATATTTCTGTTGTATTA	0.408000													14	64					0	0	1	0	0
SHISA5	51246	broad.mit.edu	37	3	48510783	48510783	+	Missense_Mutation	SNP	G	G	T	rs138360895		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:48510783G>T	ENST00000296444.2	-	5	956	c.620C>A	c.(619-621)cCg>cAg	p.P207Q	SHISA5_ENST00000443308.2_Missense_Mutation_p.P200Q|SHISA5_ENST00000426002.1_Missense_Mutation_p.P104Q|SHISA5_ENST00000442747.1_Missense_Mutation_p.P176Q|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000444115.1_Missense_Mutation_p.P176Q	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	207	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						GTGGTAGGCCGGTGGGCCCAT	0.657000													35	68					3.54561e-26	3.8977e-26	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62049171	62049171	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:62049171G>C	ENST00000578147.1	-	4	598	c.522C>G	c.(520-522)atC>atG	p.I174M	SCN4A_ENST00000435607.1_Missense_Mutation_p.I174M			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	174					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCAGTATCTTGATGAGGGACT	0.602000													3	34					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73499506	73499506	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:73499506G>C	ENST00000224721.6	+	35	4485	c.4480G>C	c.(4480-4482)Gag>Cag	p.E1494Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1489	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGACAGAGAAGAGCTGGATCA	0.592000													14	22					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110296515	110296515	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:110296515G>C	ENST00000318348.4	-	2	248	c.135C>G	c.(133-135)atC>atG	p.I45M	GLTP_ENST00000544393.1_Missense_Mutation_p.I45M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	45	2 X 12 AA approximate tandem repeats.					cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGTCTGCCTTGATGGGAGTAA	0.537000													30	132					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131765167	131765167	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:131765167G>C	ENST00000372577.2	+	37	4230	c.4209G>C	c.(4207-4209)ctG>ctC	p.L1403L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1403					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCATGTCCCTGATGGAGCAGC	0.592000													29	32					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538169	4538169	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:4538169G>C	ENST00000306390.6	-	2	1287	c.827C>G	c.(826-828)cCc>cGc	p.P276R	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	276						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCCCTCGGGCACGCTGGC	0.642000													45	105					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122215266	122215266	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:122215266C>G	ENST00000263710.4	-	14	1771	c.1382G>C	c.(1381-1383)aGa>aCa	p.R461T	CLASP1_ENST00000409078.3_Missense_Mutation_p.R461T|CLASP1_ENST00000397587.3_Missense_Mutation_p.R461T|CLASP1_ENST00000455322.2_Missense_Mutation_p.R461T|CLASP1_ENST00000541859.1_Missense_Mutation_p.R230T|CLASP1_ENST00000545861.1_Missense_Mutation_p.R229T|CLASP1_ENST00000541377.1_Missense_Mutation_p.R461T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	461					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATTTACCTTCTAACTGCGAC	0.338000													10	47					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793596	109793596	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:109793596C>G	ENST00000356711.2	+	32	5096	c.4970C>G	c.(4969-4971)cCc>cGc	p.P1657R	MYO16_ENST00000357550.2_Missense_Mutation_p.P1657R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1657	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCGCCCCCCGCGCCCTAC	0.701000													7	6					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732510	92732510	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:92732510C>G	ENST00000379958.2	-	3	3170	c.2901G>C	c.(2899-2901)ctG>ctC	p.L967L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	967						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTTTTATCAGAATTGTAG	0.398000													41	110					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113524369	113524369	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:113524369C>G	ENST00000273398.3	+	14	1866	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.F553L|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	586					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCATGAAATTCAAGGTATATT	0.378000													41	73					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16479024	16479024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:16479024G>C	ENST00000306320.9	-	6	829	c.743C>G	c.(742-744)tCa>tGa	p.S248*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.S107*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	248					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CAGCAGAACTGACTTAATTTT	0.313000													69	179					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20857566	20857566	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:20857566G>C	ENST00000261377.6	+	19	2357	c.2148G>C	c.(2146-2148)aaG>aaC	p.K716N	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K716N|AC004381.6_ENST00000348433.6_Missense_Mutation_p.K685N	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					ACCACCCGAAGATAGCAGCCT	0.547000													51	189					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232780	35232780	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:35232780C>A	ENST00000392232.3	+	6	1794	c.1626C>A	c.(1624-1626)ttC>ttA	p.F542L	ZNF181_ENST00000459757.2_Missense_Mutation_p.F497L|ZNF181_ENST00000492450.1_Missense_Mutation_p.F498L			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAGACCTTCAGCTGTAGTT	0.393000													25	66					2.21704e-12	2.36309e-12	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582248	55582248	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:55582248G>T	ENST00000361849.3	-	34	5638	c.5244C>A	c.(5242-5244)ccC>ccA	p.P1748P	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Silent_p.P1743P|PCDH15_ENST00000437009.1_Silent_p.P1677P|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1723P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1746P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1706P|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1746	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gagggggaaggggaCAGGCAG	0.458000										HNSCC(58;0.16)			11	19					2.27111e-07	2.36091e-07	1	1	0
RIOK2	55781	broad.mit.edu	37	5	96506977	96506977	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:96506977C>T	ENST00000283109.3	-	6	780	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E238K	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	238							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TGGTCACTTTCATCCAAAATG	0.333000													19	53					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25229006	25229006	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:25229006C>T	ENST00000216962.4	+	1	302	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	64					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCGACCACCTCGTGGGCCGCT	0.701000													13	7					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004540	74004540	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:74004540C>G	ENST00000301607.3	-	22	4999	c.4746G>C	c.(4744-4746)caG>caC	p.Q1582H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q1604H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1582	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGGGCCCTCTGCAGCTCGG	0.726000													4	22					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102541061	102541061	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:102541061C>T	ENST00000370296.2	+	5	1105	c.555C>T	c.(553-555)taC>taT	p.Y185Y	PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Silent_p.Y185Y|PAX2_ENST00000428433.1_Silent_p.Y185Y|PAX2_ENST00000355243.3_Silent_p.Y185Y|PAX2_ENST00000556085.1_Silent_p.Y184Y			Q02962	PAX2_HUMAN	paired box 2	185					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGGGATCCTACTCCATCAATG	0.552000													52	92					0	0	1	0	0
SETD6	79918	broad.mit.edu	37	16	58550743	58550743	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:58550743G>A	ENST00000394266.4	+	6	552	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SETD6_ENST00000219315.4_Missense_Mutation_p.E235K|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.E211K			Q8TBK2	SETD6_HUMAN	SET domain containing 6	235	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						AGAAGAGGATGAAAAGGAGCC	0.517000													36	169					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192269	96192269	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:96192269A>T	ENST00000324765.8	+	11	1474	c.1127A>T	c.(1126-1128)cAg>cTg	p.Q376L	DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	376	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTGATATTCAGTTGAAAGTA	0.308000													27	11					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918932	21918932	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:21918932C>A	ENST00000240662.2	-	3	1345	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	334			V -> A (in dbSNP:rs34811413).			voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ACAGAATACACTCCTTCTTCC	0.488000													53	75					3.94638e-17	4.286e-17	1	1	0
NAV1	89796	broad.mit.edu	37	1	201752699	201752699	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:201752699C>T	ENST00000367296.4	+	7	2943	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F	NAV1_ENST00000367302.1_Silent_p.F854F|NAV1_ENST00000367297.4_Silent_p.F841F|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Silent_p.F841F|NAV1_ENST00000367295.1_Silent_p.F450F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.F841F	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	841					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTCCTGCTTCACCCCCAGTC	0.547000													72	132					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825670	4825670	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:4825670C>T	ENST00000380382.1	-	1	177	c.178G>A	c.(178-180)Gat>Aat	p.D60N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATAACAATCAAAACAAGTG	0.393000													21	85					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44751805	44751805	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:44751805C>G	ENST00000372285.3	+	5	516	c.444C>G	c.(442-444)gtC>gtG	p.V148V	CD40_ENST00000372276.3_Silent_p.V148V|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	148					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.V148V(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTGCCCAGTCGGCTTCTTCT	0.532000									Immune Deficiency with Hyper-IgM				80	85					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877732	53877732	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:53877732C>T	ENST00000267079.2	-	9	1447	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E441K|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E441K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	408	Leucine-zipper 1.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGTTCCTCTTCTAGGCGGTGC	0.512000													27	162					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34021165	34021165	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:34021165C>G	ENST00000389232.4	+	47	7211	c.7141C>G	c.(7141-7143)Ctg>Gtg	p.L2381V	RYR3_ENST00000415757.3_Missense_Mutation_p.L2381V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2381	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAACTTTTCTGCTCCACTT	0.448000													19	30					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463856	66463856	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:66463856C>G	ENST00000533211.1	-	21	4501	c.4170G>C	c.(4168-4170)caG>caC	p.Q1390H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q1390H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q1390H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1390					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACAGCAGCTCTGGGCAAACA	0.627000													27	68					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259410	122259410	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:122259410G>T	ENST00000462315.1	-	8	1967	c.1674C>A	c.(1672-1674)ctC>ctA	p.L558L	PARP9_ENST00000477522.2_Silent_p.L558L|PARP9_ENST00000360356.2_Silent_p.L593L|PARP9_ENST00000492382.1_Silent_p.L138L|PARP9_ENST00000471785.1_Silent_p.L558L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	593					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCACCTCAATGAGGTCAGCCC	0.453000													23	54					5.26018e-13	5.62572e-13	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28251816	28251816	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:28251816G>A	ENST00000405948.2	+	2	646	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E76K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	76	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTGAGACCGGAGATGCACAC	0.567000													35	75					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930538	122930538	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:122930538C>T	ENST00000534624.1	-	5	1039	c.763G>A	c.(763-765)Gag>Aag	p.E255K	HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.E255K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E19K|HSPA8_ENST00000526110.1_Missense_Mutation_p.E236K|HSPA8_ENST00000453788.2_Missense_Mutation_p.E255K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E109K|HSPA8_ENST00000227378.3_Missense_Mutation_p.E255K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	255	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCTTGTTCTCACTGATGTCC	0.478000													53	40					0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51857659	51857659	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:51857659G>A	ENST00000354232.4	-	1	2701	c.234C>T	c.(232-234)gtC>gtT	p.V78V	CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000309244.4_Intron	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	74					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		tgaggacaacgacagcctgga	0.632000													8	40					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411485	79411485	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:79411485G>A	ENST00000307745.7	+	11	2403	c.2403G>A	c.(2401-2403)atG>atA	p.M801I																								CCCACCTCATGATGCAGAGCG	0.726000													3	2					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038057	170038057	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:170038057G>A	ENST00000263816.3	-	52	10355	c.10070C>T	c.(10069-10071)tCt>tTt	p.S3357F	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3357					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATTATCACAGACTTGTTGGT	0.507000													18	81					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	622750	622750	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:622750G>C	ENST00000588649.2	-	8	1542	c.1458C>G	c.(1456-1458)gtC>gtG	p.V486V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	486					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GCGCCTGCAGGACCTGCGGAA	0.731000													3	8					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95537197	95537197	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:95537197C>G	ENST00000371418.4	+	3	609	c.349C>G	c.(349-351)Cta>Gta	p.L117V	LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Missense_Mutation_p.L117V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	117					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCTTCCACATCTAGAGTATTT	0.323000													7	50					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42526474	42526474	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:42526474G>A	ENST00000262895.3	-	12	1505	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	GRIK5_ENST00000301218.4_Silent_p.I502I|GRIK5_ENST00000593562.1_Silent_p.I502I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	502						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTCAGCTGTGATGGTGAAGG	0.592000													23	54					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107563	45107563	+	Silent	SNP	G	G	T	rs149494438		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:45107563G>T	ENST00000340648.4	+	13	1425	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	436				L -> P (in Ref. 1; BAA11496 and 3; AAH28386).	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.L436L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCTCTGGGCTGAAAGCCCTGA	0.657000													4	28					0.150653	0.151373	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179287635	179287635	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:179287635G>C	ENST00000429709.2	+	2	262	c.49G>C	c.(49-51)Gac>Cac	p.D17H	ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	17					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CCTTGTTTTTGACATTGGATC	0.383000													24	97					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125449083	125449083	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:125449083G>A	ENST00000308736.2	-	15	2000	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DHX37_ENST00000544745.1_Silent_p.Y421Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	634	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGTCCACCACGTACTTGATGC	0.587000													17	56					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182956	34182956	+	Silent	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:34182956T>A	ENST00000297161.2	+	15	2234	c.1860T>A	c.(1858-1860)ccT>ccA	p.P620P	BMPER_ENST00000426693.1_Silent_p.P620P	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	620					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTGGGAGCCTCAGCAGAATT	0.478000													18	62					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567440	15567440	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:15567440C>T	ENST00000343625.7	-	10	1534	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3		Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGCAGTGCCCAGGTCAGTCA	0.607000													17	24					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26307008	26307008	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:26307008C>T	ENST00000335473.7	+	33	5605	c.5355C>T	c.(5353-5355)ctC>ctT	p.L1785L	MYO18B_ENST00000407587.2_Silent_p.L1786L|MYO18B_ENST00000536101.1_Silent_p.L1785L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1785	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGGAACCCTCTGTGACCAGG	0.507000													6	15					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545972	82545972	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:82545972G>T	ENST00000333891.9	-	7	11667	c.11330C>A	c.(11329-11331)tCt>tAt	p.S3777Y	PCLO_ENST00000423517.2_Missense_Mutation_p.S3777Y|PCLO_ENST00000437081.1_Missense_Mutation_p.S497Y	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTTTTGCAGACTCCCTTTC	0.453000													4	60					0.00909568	0.00921248	1	1	0
CDHR2	54825	broad.mit.edu	37	5	175998225	175998225	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:175998225G>C	ENST00000510636.1	+	6	601	c.327G>C	c.(325-327)gaG>gaC	p.E109D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E109D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E109D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	109	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGAGGGAGATGCTGGTGA	0.488000													19	29					0	0	1	0	0
FAM204A	63877	broad.mit.edu	37	10	120095864	120095864	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:120095864C>T	ENST00000369183.4	-	3	323	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.E22K	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	22										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						AACGTAGCTTCATCTTCCGAG	0.398000													12	69					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142446102	142446102	+	RNA	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:142446102T>A	ENST00000606664.1	+	0	1458				MROH5_ENST00000430863.1_RNA																							CTCAGCTCCCTGTCTGCCATG	0.682000													18	29					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409489	80409489	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:80409489G>C	ENST00000265080.4	+	15	2287	c.2220G>C	c.(2218-2220)gtG>gtC	p.V740V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	740	N-terminal Ras-GEF.				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			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)		CTTCCCCAGTGAGGGCCAGAA	0.537000													30	50					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107301401	107301401	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:107301401C>T	ENST00000415430.3	+	2	344	c.183C>T	c.(181-183)ttC>ttT	p.F61F	VSIG1_ENST00000217957.5_Silent_p.F61F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	61	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGTGGTCTTTCTTCCATAAGA	0.443000													41	26					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89169933	89169933	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:89169933C>T	ENST00000332810.3	+	2	644	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	AEN_ENST00000379231.3_Missense_Mutation_p.R165W	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	165	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGCATCACTCGGCAGCACAT	0.577000													10	51					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816164	43816164	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:43816164T>A	ENST00000380399.1	-	1	791	c.88A>T	c.(88-90)Att>Ttt	p.I30F	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CATGACCTAATTAAGAACGAA	0.537000													9	28					0	0	1	0	0
ERH	2079	broad.mit.edu	37	14	69847347	69847347	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:69847347C>G	ENST00000557016.1	-	4	616	c.223G>C	c.(223-225)Gat>Cat	p.D75H	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	75					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GTCTGGGTATCAGCTCGGTAA	0.453000													18	43					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099895	71099895	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:71099895C>T	ENST00000317987.5	+	4	361	c.249C>T	c.(247-249)agC>agT	p.S83S		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	83						extracellular region											CCCTTCCTAGCGAAAAGTAAA	0.373000													21	110					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442207	24442207	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:24442207C>T	ENST00000383168.4	-	2	514	c.386G>A	c.(385-387)gGa>gAa	p.G129E	AQP4_ENST00000440832.3_Missense_Mutation_p.G107E|AQP4_ENST00000581374.1_Missense_Mutation_p.G107E|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	129					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GATTCCTGCTCCAATGATGGC	0.542000													24	73					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508256	48508256	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:48508256T>G	ENST00000296443.9	+	3	1089	c.202T>G	c.(202-204)Tcc>Gcc	p.S68A	TREX1_ENST00000456089.1_Intron|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Missense_Mutation_p.S123A|TREX1_ENST00000436480.2_Missense_Mutation_p.S68A|TREX1_ENST00000444177.1_Missense_Mutation_p.S58A|TREX1_ENST00000492235.1_3'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	123					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGACAAGCTCTCCCTGTGTGT	0.642000													36	109					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108104198	108104198	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:108104198C>T	ENST00000412830.3	+	14	1475	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	PWP1_ENST00000541166.1_Missense_Mutation_p.S374F	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	436					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CTCTTCTGTTCTTCATGTTGC	0.413000													13	65					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740381	102740381	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:102740381C>T	ENST00000210633.3	+	11	1476	c.1398C>T	c.(1396-1398)caC>caT	p.H466H	MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Silent_p.H466H|SEMA4G_ENST00000370250.4_Silent_p.H466H			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	466	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTGGGATGCACATTATTGAAG	0.498000													33	80					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74949825	74949825	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:74949825C>T	ENST00000262144.6	-	13	1297	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	389										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTGCAAGGTCTGAGGCAGCC	0.458000													25	87					0	0	1	0	0
SNX10	29887	broad.mit.edu	37	7	26411509	26411509	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:26411509C>T	ENST00000338523.4	+	6	567	c.380C>T	c.(379-381)tCa>tTa	p.S127L	SNX10_ENST00000409838.1_Missense_Mutation_p.S43L|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S87L|SNX10_ENST00000396376.1_Missense_Mutation_p.S127L|SNX10_ENST00000446848.2_Missense_Mutation_p.S153L	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	127	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CATCTGAATTCAGAAGACATT	0.383000													26	153					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77055453	77055453	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:77055453G>A	ENST00000264883.3	-	5	725	c.585C>T	c.(583-585)ttC>ttT	p.F195F	NUP54_ENST00000458189.2_Silent_p.F15F|NUP54_ENST00000514987.1_Silent_p.F147F|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_Silent_p.F15F	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	195	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTTTTTGTTGAAAACTAAAA	0.353000													11	74					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160182266	160182266	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:160182266C>G	ENST00000392783.2	-	35	6602	c.6107G>C	c.(6106-6108)aGa>aCa	p.R2036T	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1936T|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R2002T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R2000T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTCCATTTTTCTTTTCTTGAG	0.353000													16	81					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	11005697	11005697	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:11005697A>G	ENST00000354666.3	-	3	246	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	55					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCTTCATATACTTGTTACCC	0.443000													13	54					0	0	1	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800437	67800437	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:67800437G>A	ENST00000313468.5	+	4	264	c.157G>A	c.(157-159)Gac>Aac	p.D53N	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	53					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GTCAGTGACTGACCGGGCAGC	0.637000													18	77					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112896816	112896816	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:112896816C>A	ENST00000161863.4	+	18	2469	c.2256C>A	c.(2254-2256)ttC>ttA	p.F752L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	752	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTCGTCTGTTCAGTAGACTCC	0.338000													10	62					2.68362e-12	2.85559e-12	1	1	0
ARSG	22901	broad.mit.edu	37	17	66366590	66366590	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:66366590A>G	ENST00000448504.2	+	8	1703	c.907A>G	c.(907-909)Aat>Gat	p.N303D	ARSG_ENST00000452479.2_Missense_Mutation_p.N139D|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	303					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTAGGAGACAATGGCCCGTG	0.557000													12	32					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65398045	65398045	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:65398045C>T	ENST00000355703.3	+	27	4979	c.4440C>T	c.(4438-4440)ctC>ctT	p.L1480L	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1480						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TTTTCGACCTCCGCAAGATCC	0.597000													7	55					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169811667	169811667	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:169811667T>A	ENST00000286031.6	+	18	2535	c.1835T>A	c.(1834-1836)tTa>tAa	p.L612*	C1orf112_ENST00000359326.4_Nonsense_Mutation_p.L612*|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	612										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGCTTTTTTAAACATTAAA	0.348000													14	58					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129394931	129394931	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:129394931G>A	ENST00000393232.1	+	11	1539	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	NRF1_ENST00000223190.4_Silent_p.Q474Q|NRF1_ENST00000393230.2_Silent_p.Q474Q|NRF1_ENST00000353868.4_Silent_p.Q408Q|NRF1_ENST00000393231.3_Silent_p.Q493Q|NRF1_ENST00000539636.1_Silent_p.Q313Q|NRF1_ENST00000311967.2_Silent_p.Q493Q	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	474	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGTGCAGGTGGCCATGG	0.592000													22	36					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63995136	63995136	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:63995136G>A	ENST00000279206.3	+	3	733	c.577G>A	c.(577-579)Gag>Aag	p.E193K	NUDT22_ENST00000441250.2_Intron	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	193	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GATCTGTGATGAGGTGAGTGA	0.597000													30	45					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98546198	98546198	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:98546198C>G	ENST00000359863.4	+	34	4866	c.4657C>G	c.(4657-4659)Cca>Gca	p.P1553A	TRRAP_ENST00000446306.3_Missense_Mutation_p.P1534A|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1535A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1553					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCGGGGAGTCCATTCCGAGA	0.537000													56	93					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627265	82627265	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:82627265C>T	ENST00000220669.5	-	4	241	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	ZFAND1_ENST00000517588.1_De_novo_Start_InFrame|ZFAND1_ENST00000523096.1_Missense_Mutation_p.V75M|ZFAND1_ENST00000521287.1_De_novo_Start_InFrame|ZFAND1_ENST00000522520.1_De_novo_Start_InFrame|ZFAND1_ENST00000521895.1_De_novo_Start_InFrame|ZFAND1_ENST00000519523.1_Missense_Mutation_p.V75M	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	75							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATAACTGCCACAAGTTCTCTC	0.378000													46	74					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231118053	231118053	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:231118053C>T	ENST00000392045.3	+	11	1194	c.1080C>T	c.(1078-1080)acC>acT	p.T360T	SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Silent_p.T360T|SP140_ENST00000343805.6_Intron|SP140_ENST00000486687.2_Silent_p.T284T|SP140_ENST00000350136.5_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	360					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCAGAGACCTTTGATCTAA	0.448000													29	54					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2083812	2083812	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:2083812G>A	ENST00000381482.3	+	2	964	c.693G>A	c.(691-693)aaG>aaA	p.K231K	STK35_ENST00000246032.3_Silent_p.K98K|STK35_ENST00000400064.3_Silent_p.K59K			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	231	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						TGGCGGTCAAGAAGATCCGCT	0.692000													6	6					0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65358945	65358945	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:65358945A>G	ENST00000373758.4	+	5	502	c.319A>G	c.(319-321)Att>Gtt	p.I107V	REEP3_ENST00000298249.4_Missense_Mutation_p.I92V	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	107						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGATGATTATATTGTACAAGC	0.388000													12	25					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130482644	130482644	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:130482644C>G	ENST00000373289.3	+	6	707	c.627C>G	c.(625-627)ttC>ttG	p.F209L	PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.F33L|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	209							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTACATCTTCCGGGCCAGAC	0.612000													15	86					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959329	45959329	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:45959329G>A	ENST00000400375.1	-	1	749	c.705C>T	c.(703-705)ctC>ctT	p.L235L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	235	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGGGCGGCAGAGGAGGGACA	0.687000													36	83					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176317903	176317903	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:176317903C>G	ENST00000292432.5	-	5	545	c.454G>C	c.(454-456)Gat>Cat	p.D152H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	152	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGCGCATCCAGGAACTCA	0.602000													12	69					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137323274	137323274	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:137323274C>T	ENST00000033079.3	-	9	1373	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM13B_ENST00000420893.2_Missense_Mutation_p.E308K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E190K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	308					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGGTGCTGTTCCACAGCTGCT	0.358000													18	44					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143114	55143114	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:55143114G>A	ENST00000396331.1	+	5	591	c.234G>A	c.(232-234)gtG>gtA	p.V78V	LILRB1_ENST00000396332.4_Silent_p.V78V|LILRB1_ENST00000434867.2_Silent_p.V78V|LILRB1_ENST00000448689.1_Silent_p.V78V|LILRB1_ENST00000396321.2_Silent_p.V78V|LILRB1_ENST00000427581.2_Silent_p.V114V|LILRB1_ENST00000396315.1_Silent_p.V78V|LILRB1_ENST00000324602.7_Silent_p.V78V|LILRB1_ENST00000396327.3_Silent_p.V78V|LILRB1_ENST00000396317.1_Silent_p.V78V|LILRB1_ENST00000418536.2_Silent_p.V78V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	78	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGAGCTTGTGAAGAAGGGCC	0.557000										HNSCC(37;0.09)			37	126					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184694	130184694	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:130184694G>A	ENST00000422113.2	-	2	955	c.629C>T	c.(628-630)gCc>gTc	p.A210V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	210						integral to membrane		p.A210V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTCCTCCCGGCAACCACCGT	0.706000													3	41					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88457844	88457844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:88457844G>A	ENST00000552810.1	-	45	6527	c.6184C>T	c.(6184-6186)Cag>Tag	p.Q2062*	CEP290_ENST00000547691.2_Nonsense_Mutation_p.Q1122*|CEP290_ENST00000397838.3_Nonsense_Mutation_p.Q1122*|CEP290_ENST00000309041.7_Nonsense_Mutation_p.Q2064*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2062					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCCTTCTGAAGCTCCTGT	0.303000													6	12					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004086	74004086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:74004086C>A	ENST00000301607.3	-	22	5453	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.E1756*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1734	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACAGACTCCTCCCCACAGGGC	0.632000													14	60					7.93312e-07	8.2197e-07	1	1	0
ARG2	384	broad.mit.edu	37	14	68112474	68112474	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:68112474C>T	ENST00000261783.3	+	4	657	c.477C>T	c.(475-477)ctC>ctT	p.L159L	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	159					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CAGGAAATCTCCATGGACAGC	0.498000													35	41					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405207	23405207	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:23405207C>T	ENST00000418100.1	-	4	1957	c.1840G>A	c.(1840-1842)Gta>Ata	p.V614I																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GATTTTTCTACAGCATGAATT	0.418000													10	29					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193261	128193261	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:128193261C>G	ENST00000284694.7	-	3	628	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	C10orf90_ENST00000544758.1_Missense_Mutation_p.E267Q|C10orf90_ENST00000356858.3_Missense_Mutation_p.E123Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.E170Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E123Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	170										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGTGTGTCCTCAGCCCTGCAC	0.647000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	104					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151900091	151900091	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:151900091G>A	ENST00000355193.2	-	26	4238	c.4020C>T	c.(4018-4020)agC>agT	p.S1340S	KMT2C_ENST00000262189.6_Silent_p.S1340S					lysine (K)-specific methyltransferase 2C																		TTTTTTCAGTGCTTTCAGTAA	0.303000													29	103					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34652086	34652086	+	Nonstop_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr21:34652086G>C	ENST00000433395.2	+	6	744	c.744G>C	c.(742-744)taG>taC	p.*248Y	IL10RB_ENST00000290200.2_Missense_Mutation_p.E121Q																							AATGCAAGTAGAAGTACTTGC	0.328000													34	125					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045134	102045134	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:102045134C>T	ENST00000549145.1	+	15	1553	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q460*|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q497*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q453*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q446*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q373*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q497*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q459*|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q458*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	472	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCTACCTGTTCAGGAGAGTGA	0.438000													66	104					0	0	1	0	0
HES4	57801	broad.mit.edu	37	1	935114	935114	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:935114G>A	ENST00000428771.2	-	1	438	c.240C>T	c.(238-240)ctC>ctT	p.L80L	HES4_ENST00000304952.6_Silent_p.L54L|HES4_ENST00000484667.2_Intron	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	54	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAGCTGAGCGAGGCTCTCGT	0.677000													18	112					0	0	1	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782430	27782430	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:27782430C>T	ENST00000333151.3	-	1	177	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	30					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R30Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						GCGATGCACTCGGCCTACGGG	0.652000													10	43					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239508	123239508	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:123239508C>T	ENST00000358487.5	-	18	2601	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	FGFR2_ENST00000478859.1_Missense_Mutation_p.E549K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E775K|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.E778K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E660K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E661K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E665K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E663K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	777					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.E777K(1)|p.E778*(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAATACTGTTCGAGAGGTTGG	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				19	159					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545179	54545179	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:54545179C>T	ENST00000338372.2	-	7	719	c.544G>A	c.(544-546)Gag>Aag	p.E182K	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.E151K|VSTM1_ENST00000366170.2_Missense_Mutation_p.E94K	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	182						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CCGGCAGCCTCCTGCTCCGGA	0.493000													21	58					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35230118	35230118	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:35230118G>C	ENST00000392232.3	+	4	375	c.207G>C	c.(205-207)caG>caC	p.Q69H	ZNF181_ENST00000459757.2_Missense_Mutation_p.Q25H|ZNF181_ENST00000492450.1_Missense_Mutation_p.Q25H			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTTCTGCTCAGAGGGACTTAT	0.443000													21	111					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040396	34040396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:34040396G>C	ENST00000389232.4	+	54	8141	c.8071G>C	c.(8071-8073)Gag>Cag	p.E2691Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E2691Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2691	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGACCAAAGAGGGAGAAGC	0.552000													12	57					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68470924	68470924	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:68470924C>T	ENST00000256442.5	+	6	1179	c.926C>T	c.(925-927)gCa>gTa	p.A309V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	309					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTCGGAGAGCATCTAAGATT	0.453000													37	50					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42946262	42946262	+	Silent	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:42946262C>G	ENST00000304611.8	-	1	696	c.627G>C	c.(625-627)cgG>cgC	p.R209R	PEX6_ENST00000244546.4_Silent_p.R209R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	209					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGAGACAGCTCCGGCTCACCC	0.647000													6	22					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:1360624C>T	ENST00000311401.5	+	5	886	c.500C>T	c.(499-501)tCa>tTa	p.S167L	MUM1_ENST00000415183.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TCTTCCCTTTCAGAGGACGAC	0.577000													28	60					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825276	121825276	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:121825276C>T	ENST00000330540.2	+	4	748	c.632C>T	c.(631-633)aCg>aTg	p.T211M	CD86_ENST00000469710.1_Missense_Mutation_p.T129M|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.T205M|CD86_ENST00000493101.1_Missense_Mutation_p.T99M	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	211	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCTGATGTTACGAGCAATATG	0.388000													108	289					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118458188	118458188	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:118458188G>A	ENST00000369209.3	-	5	608	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	168							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CATAAGCAAAGATTTCAAGGG	0.522000													29	137					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823807	46823807	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:46823807G>C	ENST00000339613.2	+	9	1220	c.965G>C	c.(964-966)gGg>gCg	p.G322A	HIF3A_ENST00000244303.6_Missense_Mutation_p.G309A|HIF3A_ENST00000377670.4_Missense_Mutation_p.G378A|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.G309A|HIF3A_ENST00000420102.2_Missense_Mutation_p.G327A|HIF3A_ENST00000600383.1_Missense_Mutation_p.G309A|HIF3A_ENST00000300862.3_Missense_Mutation_p.G376A			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTAACCCTGGGGACAGCCTT	0.647000													34	52					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462487	17462487	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:17462487C>T	ENST00000262545.2	+	12	2004	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	PCSK2_ENST00000536609.1_Silent_p.D528D|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.D544D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	563					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGGGGAAGACGCCCGAGGCA	0.617000													22	26					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104129685	104129685	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:104129685C>T	ENST00000369983.3	+	26	3540	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1094					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTCTAGTGTTCGGGGCCCATC	0.532000													15	82					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220582	155220582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:155220582G>T	ENST00000361361.2	-	9	1504	c.995C>A	c.(994-996)tCa>tAa	p.S332*	FAM189B_ENST00000350210.2_Nonsense_Mutation_p.S236*|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Nonsense_Mutation_p.S314*	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	332						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCAATGGCTGACAGCACCAG	0.667000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0.184627	0.184627	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78790163	78790163	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:78790163G>A	ENST00000376767.3	+	14	2530	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aaatggaatggaatggaatgg	0.393000													3	7					0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184572462	184572462	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:184572462G>A	ENST00000326397.5	-	3	396	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	RWDD4_ENST00000327570.9_Missense_Mutation_p.P42S|RWDD4_ENST00000512740.1_5'UTR|RWDD4_ENST00000510968.1_Intron	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	42	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						AAGGCTTTGGGATCACCATTT	0.353000													15	100					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15822602	15822602	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:15822602G>C	ENST00000281172.5	-	5	798	c.362C>G	c.(361-363)tCa>tGa	p.S121*	EPS8_ENST00000543523.1_Nonsense_Mutation_p.S121*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.S121*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	121	PH; first part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACTTGCCTTTGATTCTAAATC	0.323000													38	53					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431843	135431843	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:135431843C>G	ENST00000394143.1	+	6	6269	c.5978C>G	c.(5977-5979)tCt>tGt	p.S1993C	GPR112_ENST00000412101.1_Missense_Mutation_p.S1788C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1788C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1993C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1930C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1993					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					TCAATTCTTTCTGGTGCCACT	0.458000													27	57					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52381647	52381647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:52381647G>C	ENST00000420592.1	-	4	1515	c.182C>G	c.(181-183)tCa>tGa	p.S61*	ZNF577_ENST00000301399.5_Nonsense_Mutation_p.S61*|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.S61*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.S61*			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTACCTATTGATACTAGGTT	0.418000													26	67					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514212	75514212	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:75514212G>C	ENST00000355774.2	-	2	2362	c.2147C>G	c.(2146-2148)tCt>tGt	p.S716C	MLH3_ENST00000238662.7_Missense_Mutation_p.S716C|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.S716C|MLH3_ENST00000556257.1_Missense_Mutation_p.S716C	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	716					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCAGGGGAAAGAGGGGGATGT	0.373000								Mismatch excision repair (MMR)					52	71					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41174315	41174315	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:41174315C>G	ENST00000355653.3	-	1	120	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	VAT1_ENST00000587173.1_Missense_Mutation_p.E9Q	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	9						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTCGCTGCCTCGGCTACCTCT	0.706000													7	23					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90362717	90362717	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:90362717G>A	ENST00000369393.3	-	94	15934	c.15819C>T	c.(15817-15819)atC>atT	p.I5273I	MDN1_ENST00000428876.1_Silent_p.I5273I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5273					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTACCTGGAAGATCGTGTCCA	0.333000													59	72					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656529	656529	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:656529C>T	ENST00000380907.2	-	1	434	c.416G>A	c.(415-417)aGg>aAg	p.R139K	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	139										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCACACTCTCCTGGGAAGCAC	0.726000													10	29					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124331831	124331831	+	Splice_Site	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:124331831T>C	ENST00000338354.3	+	5	295	c.189T>C	c.(187-189)ggT>ggC	p.G63G	DMBT1_ENST00000368956.2_Splice_Site_p.G63G|DMBT1_ENST00000344338.3_Splice_Site_p.G63G|DMBT1_ENST00000368955.3_Splice_Site_p.G63G|DMBT1_ENST00000330163.4_Splice_Site_p.G63G|DMBT1_ENST00000368909.3_Splice_Site_p.G63G|DMBT1_ENST00000359586.6_Splice_Site_p.G63G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	63					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G63G(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCTGCAGGTTCTCCGATTT	0.527000													37	243					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21744200	21744200	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:21744200C>G	ENST00000328843.6	+	39	6474	c.6443C>G	c.(6442-6444)tCt>tGt	p.S2148C	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2141C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2148	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCAGGCAGTCTACCCTGGAG	0.537000									Kartagener syndrome				10	33					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830177	231830177	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:231830177G>A	ENST00000439617.2	+	2	726	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	DISC1_ENST00000366636.4_Missense_Mutation_p.E225K|DISC1_ENST00000537876.1_Missense_Mutation_p.E225K|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.E225K|DISC1_ENST00000366633.3_Missense_Mutation_p.E225K|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.E225K|DISC1_ENST00000539444.1_Missense_Mutation_p.E225K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.E225K	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	225	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAACGTGGAGAAGCAGAAGG	0.617000													21	21					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57216769	57216769	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:57216769C>G	ENST00000343433.6	-	9	1415	c.1335G>C	c.(1333-1335)caG>caC	p.Q445H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	445										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGGGATTTGTCTGGATGATGT	0.468000													13	72					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941616	98941616	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:98941616G>C	ENST00000556029.1	+	9	1701	c.1345G>C	c.(1345-1347)Gac>Cac	p.D449H	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.D340H|TMPO_ENST00000343315.5_Missense_Mutation_p.D409H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	449						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTTCATGTTGACCCTAGAAA	0.348000													20	127					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131731764	131731764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:131731764C>T	ENST00000372577.2	+	10	904	c.883C>T	c.(883-885)Cag>Tag	p.Q295*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	295					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGAACTGCATCAGTTTGCGCA	0.418000													12	37					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494443	133494443	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:133494443G>C	ENST00000402696.3	+	15	2339	c.1854G>C	c.(1852-1854)aaG>aaC	p.K618N	TF_ENST00000264998.3_Missense_Mutation_p.K491N	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	618	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GCGTCCACAAGATATTACGTC	0.537000													64	98					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048822	9048822	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:9048822G>C	ENST00000397910.4	-	5	33012	c.32809C>G	c.(32809-32811)Ctg>Gtg	p.L10937V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10939	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6570V(1)|p.L10937V(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						CTAGTGACCAGAGAGGTCACC	0.498000													46	111					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156034	129156034	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:129156034G>C	ENST00000429544.2	-	3	648	c.453C>G	c.(451-453)atC>atG	p.I151M	MBD4_ENST00000503197.1_Missense_Mutation_p.I151M|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.I151M|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.I151M	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	151					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATCTTGACTTGATACCCCTTT	0.393000								Base excision repair (BER), DNA glycosylases					47	114					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113637017	113637017	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:113637017C>G	ENST00000361127.5	+	5	770	c.572C>G	c.(571-573)tCa>tGa	p.S191*		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GATAATTTATCAAGTTCCTTA	0.333000													33	71					0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26621193	26621193	+	Missense_Mutation	SNP	C	C	T	rs113091428	byFrequency	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:26621193C>T	ENST00000319420.3	-	2	401	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	116					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						AGGAACGGCACGTAGATGGGC	0.507000													12	24					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113506812	113506812	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:113506812G>A	ENST00000505019.1	-	14	4111	c.3986C>T	c.(3985-3987)tCa>tTa	p.S1329L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTATAAAATGATATGTCAAC	0.328000													10	25					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29099515	29099515	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:29099515C>A	ENST00000544772.1	-	9	1659	c.223G>T	c.(223-225)Gat>Tat	p.D75Y	CHEK2_ENST00000348295.3_Missense_Mutation_p.D296Y|CHEK2_ENST00000405598.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000402731.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000382566.1_Intron|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.D339Y|CHEK2_ENST00000403642.1_Missense_Mutation_p.D205Y|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000328354.6_Missense_Mutation_p.D296Y|CHEK2_ENST00000382578.1_Missense_Mutation_p.D205Y	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	296					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATATAATAATCTTCTGCATCA	0.323000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	14					0.00116845	0.00118535	1	1	0
CAMK2G	818	broad.mit.edu	37	10	75577299	75577299	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:75577299C>T	ENST00000423381.1	-	20	1500	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	CAMK2G_ENST00000322635.3_Silent_p.E398E|CAMK2G_ENST00000322680.3_Silent_p.E427E|CAMK2G_ENST00000351293.3_Silent_p.E366E|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.E387E|CAMK2G_ENST00000305762.7_Silent_p.E400E|CAMK2G_ENST00000394762.2_Silent_p.E404E	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	429					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCTTAATGATCTCCTGTTTTC	0.463000													34	80					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131765610	131765610	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:131765610G>A	ENST00000372577.2	+	38	4332	c.4311G>A	c.(4309-4311)gtG>gtA	p.V1437V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1437					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCAACGCAGTGAGGACAGTGC	0.577000													50	47					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430558	116430558	+	Splice_Site	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:116430558C>T	ENST00000395715.3	-	6	3400	c.2823G>A	c.(2821-2823)tcG>tcA	p.S941S	TRPS1_ENST00000520276.1_Splice_Site_p.S932S|TRPS1_ENST00000220888.5_Splice_Site_p.S928S|TRPS1_ENST00000519076.1_Splice_Site_p.S682S	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	928					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S928S(1)|p.S941S(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGTTCTTACCGAGTGAAGCT	0.498000									Langer-Giedion syndrome				30	174					0	0	1	0	0
PSMB8	5696	broad.mit.edu	37	6	32809395	32809395	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:32809395G>C	ENST00000374881.2	-	5	932	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V	PSMB8_ENST00000374882.3_Missense_Mutation_p.L219V|PSMB8_ENST00000395339.3_Missense_Mutation_p.L195V	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCAGGGCTAAGATTAGGCCGA	0.517000													73	108					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257542	63257542	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:63257542T>A	ENST00000323865.3	-	1	238	c.5A>T	c.(4-6)gAt>gTt	p.D2V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	2					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTGAGCACATCCATGCCTGC	0.642000													9	31					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24039406	24039406	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:24039406G>C	ENST00000290691.5	+	8	2380	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H	RGL4_ENST00000401461.1_Missense_Mutation_p.D268H|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	404	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ACAGAGGCTGGATTCGGCCAT	0.612000													15	71					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129851398	129851398	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:129851398C>G	ENST00000373425.3	-	5	1919	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.Q132H	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	434	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCCTCCCTTCTGGTAGTGGG	0.592000													20	60					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128075798	128075798	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:128075798C>G	ENST00000409947.1	-	13	1423	c.1141G>C	c.(1141-1143)Gaa>Caa	p.E381Q	MAP3K2_ENST00000344908.5_Missense_Mutation_p.E381Q			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	381	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.E381*(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ACAGCCAATTCTCTTCCTGTA	0.438000													21	104					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61912705	61912705	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:61912705G>A	ENST00000394818.3	+	13	1982	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	INCENP_ENST00000278849.4_Missense_Mutation_p.E590K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	594					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATGAAGGAGGAGAAGAAGAA	0.602000													20	73					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102211934	102211934	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:102211934C>G	ENST00000335968.3	-	14	2022	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	602					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAAGTCCATCAAGCTGTTCT	0.358000													19	66					0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7466485	7466485	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:7466485G>A	ENST00000321337.7	+	2	412	c.92G>A	c.(91-93)cGt>cAt	p.R31H	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.R31H	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	31	Pro-rich.			ER -> DG (in Ref. 1; AAG33252).	proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGGCGGGAGCGTCTTCGTTGG	0.627000													11	6					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640347	57640347	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:57640347A>C	ENST00000254181.4	+	4	758	c.304A>C	c.(304-306)Atc>Ctc	p.I102L	USP29_ENST00000598197.1_Missense_Mutation_p.I102L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	102					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTGGACATAATCCACCAAAA	0.348000													3	71					0	0	1	0	0
GJD3	125111	broad.mit.edu	37	17	38519926	38519926	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:38519926C>T	ENST00000337376.4	-	1	141	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CTD-2267D19.3_ENST00000578774.1_Silent_p.L246L|GJD3_ENST00000578689.1_Missense_Mutation_p.E48K			Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	48					cell communication|gap junction assembly	cell surface|connexon complex|integral to plasma membrane	protein binding						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			TCCTCTTGCTCGTCCTCGAAC	0.672000													10	14					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797673	106797673	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:106797673C>G	ENST00000265717.4	+	10	1286	c.1027C>G	c.(1027-1029)Cga>Gga	p.R343G		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	343					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R343*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AGAAATCGCTCGATGCTCGCG	0.448000													30	50					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572327	41572327	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:41572327T>C	ENST00000263253.7	+	30	6075	c.4856T>C	c.(4855-4857)aTc>aCc	p.I1619T	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1619	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATCCTCTCATCCCCTGCGAT	0.542000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				36	118					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50688575	50688575	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:50688575G>A	ENST00000216271.5	-	4	658	c.306C>T	c.(304-306)tgC>tgT	p.C102C	HDAC10_ENST00000349505.4_Silent_p.C102C|HDAC10_ENST00000448072.1_Silent_p.C102C|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	102	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCCGCGCGCAGTGAAAGG	0.652000													6	21					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616674	86616674	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:86616674C>T	ENST00000325875.3	+	3	1105	c.773C>T	c.(772-774)aCa>aTa	p.T258I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	258					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GATGAGCTTACAGCAAATAAT	0.393000													59	59					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387459	70387459	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:70387459C>T	ENST00000374051.3	+	6	1774	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	NLGN3_ENST00000536169.1_Silent_p.Y464Y|NLGN3_ENST00000358741.3_Silent_p.Y504Y|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	504					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTACTTCTACGCCTTCTATC	0.552000													4	81					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:85607643C>G	ENST00000310298.4	+	3	481	c.229C>G	c.(229-231)Caa>Gaa	p.Q77E	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77E|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77E|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5E			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GAGATTTCATCAAGATCAACT	0.363000													24	68					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979431	230979431	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:230979431C>T	ENST00000366663.5	-	3	736	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	199										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCCTCCCCTCGGGACCGCTC	0.627000													18	78					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424129	125424129	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:125424129C>T	ENST00000373686.1	+	1	285	c.285C>T	c.(283-285)atC>atT	p.I95I	OR1L1_ENST00000309623.1_Silent_p.I45I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACCTGCTTATCATCCTGGCCA	0.488000													45	47					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028200	100028200	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:100028200C>T	ENST00000310512.2	+	1	947	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	MEPCE_ENST00000414441.1_Intron	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	187							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACTTCCTCCTGGGGGGCAA	0.577000													14	98					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169511424	169511424	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:169511424C>T	ENST00000522526.2	-	10	1735	c.1298G>A	c.(1297-1299)tGa>tAa	p.*433*	LRRC34_ENST00000446859.1_Silent_p.*465*|LRRC34_ENST00000522830.1_Silent_p.*404*|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000316515.7_Silent_p.*420*			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	0										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCTACTTTTTCATGGCTGTTG	0.308000													24	66					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566389	45566389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:45566389G>A	ENST00000588982.1	-	3	1591	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	ZBTB7C_ENST00000590800.1_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000586438.1_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000332053.2_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000535628.2_Nonsense_Mutation_p.Q364*			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364						intracellular	nucleic acid binding|zinc ion binding	p.Q364E(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGGCACTGCTGAGAGGCCTTG	0.617000													15	66					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67125787	67125787	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:67125787G>A	ENST00000284425.2	-	7	1071	c.897C>T	c.(895-897)gtC>gtT	p.V299V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	299					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTATAAATATGACCATGAAGC	0.308000													16	89					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:20107215G>T	ENST00000294543.6	-	4	278	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13K|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													3	30					0.115264	0.116185	1	1	0
C12orf54	121273	broad.mit.edu	37	12	48884604	48884604	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:48884604G>C	ENST00000314014.2	+	6	309	c.178G>C	c.(178-180)Gat>Cat	p.D60H	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.D60H	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	60										endometrium(1)|large_intestine(4)	5						GCTGCAGGAAGATGCTCGGAT	0.448000													27	85					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40693045	40693045	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:40693045G>C	ENST00000298910.7	+	25	3540	c.3482G>C	c.(3481-3483)aGa>aCa	p.R1161T	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1161T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1161					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTGCCAGAATGAATTTT	0.408000													34	137					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10268054	10268054	+	Splice_Site	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:10268054G>T	ENST00000256458.4	+	10	1299		c.e10-1			NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2						activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTTCTCTCCAGGTGTTGGCCG	0.537000													31	26					8.16721e-17	8.85483e-17	1	1	0
PUM2	23369	broad.mit.edu	37	2	20511352	20511352	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:20511352C>A	ENST00000361078.2	-	4	443	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	PUM2_ENST00000420234.1_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.D141Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D141Y|PUM2_ENST00000338086.5_Missense_Mutation_p.D141Y|PUM2_ENST00000536417.1_Missense_Mutation_p.D85Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	141	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTTTGGTCCTCCTCAAAT	0.398000													19	83					8.00594e-06	8.2276e-06	1	1	0
ADORA3	140	broad.mit.edu	37	1	112042613	112042613	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:112042613A>G	ENST00000241356.4	-	2	1321	c.916T>C	c.(916-918)Tct>Cct	p.S306P	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	306					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AAAGAATCAGAGGGATGGCAG	0.413000													15	56					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217697	23217697	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:23217697G>A	ENST00000389131.3	-	3	806	c.437C>T	c.(436-438)aCt>aTt	p.T146I	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	146	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTGCAGTCAGTGACGCCCCA	0.537000													9	26					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2077687	2077687	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:2077687C>G	ENST00000382203.1	+	14	2304	c.2095C>G	c.(2095-2097)Cag>Gag	p.Q699E	SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q699E|SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q699E|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q699E			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	699					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGGGGCTCCCAGTCCTACTA	0.507000													14	20					0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79178556	79178556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:79178556C>T	ENST00000331268.5	+	5	550	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.Q77*|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.Q102*|MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.Q77*|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558502.1_5'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	116					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GCGAGAACTTCAAAAAGCCAA	0.378000													17	65					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2571043	2571043	+	Silent	SNP	C	C	G	rs150383216		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:2571043C>G	ENST00000302956.4	+	3	373	c.279C>G	c.(277-279)ctC>ctG	p.L93L	AMDHD2_ENST00000413459.3_Silent_p.L93L|AMDHD2_ENST00000293971.6_Silent_p.L93L|ATP6C_ENST00000569317.1_Silent_p.L46L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	93					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGTTGCCCTCGTGGCCCGGA	0.612000													19	88					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142735698	142735698	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:142735698G>C	ENST00000473835.2	+	6	541	c.451G>C	c.(451-453)Gat>Cat	p.D151H	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.D151H	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	151					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACATGAAACAGATGAAAAAAG	0.269000													10	23					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58830605	58830605	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:58830605C>T	ENST00000414170.3	+	3	449	c.162C>T	c.(160-162)ctC>ctT	p.L54L	LIPC_ENST00000356113.6_Silent_p.L54L|LIPC_ENST00000433326.2_Silent_p.L54L|LIPC_ENST00000299022.5_Silent_p.L54L			P11150	LIPC_HUMAN	lipase, hepatic	54					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GATTCCTGCTCTTTGGAGAAA	0.478000													53	201					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120135	70120135	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:70120135G>T	ENST00000245479.2	+	3	1509	c.1137G>T	c.(1135-1137)gcG>gcT	p.A379A		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	379					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			agccacaggcgcACACGCTGA	0.761000													14	42					1.41608e-15	1.52743e-15	1	1	0
FANCA	2175	broad.mit.edu	37	16	89816263	89816263	+	Silent	SNP	G	G	A	rs55758861	by1000genomes	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:89816263G>A	ENST00000389301.3	-	32	3144	c.3114C>T	c.(3112-3114)ctC>ctT	p.L1038L	FANCA_ENST00000568369.1_Silent_p.L1038L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1038					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGTGTGGCCGAGAGGCACTA	0.602000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				36	50					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													5	140					0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114430805	114430805	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:114430805C>T	ENST00000454265.2	-	13	1831	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CAMK2D_ENST00000505990.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000515496.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000394526.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000394522.3_Missense_Mutation_p.D325N|CAMK2D_ENST00000508738.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000511664.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000296402.5_Missense_Mutation_p.D325N|CAMK2D_ENST00000342666.5_Missense_Mutation_p.D325N|CAMK2D_ENST00000418639.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000379773.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000514328.1_Missense_Mutation_p.D324N|CAMK2D_ENST00000429180.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000394524.3_Missense_Mutation_p.D325N			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	325					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTACTCCATCTGGTTTCTTC	0.363000													10	44					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021138	5021138	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:5021138C>A	ENST00000382545.3	+	2	1701	c.594C>A	c.(592-594)ttC>ttA	p.F198L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	198					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAGGACTTCACGGGCACCG	0.547000													14	65					1.5842e-08	1.65228e-08	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55315808	55315808	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:55315808G>A	ENST00000536015.1	-	28	3787	c.3668C>T	c.(3667-3669)tCc>tTc	p.S1223F	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S1223F|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1223					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCTGCGCCCGGAGGAGATGAG	0.701000													6	32					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117099426	117099426	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:117099426C>T	ENST00000307564.4	-	22	4389	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	AKNA_ENST00000374075.5_Missense_Mutation_p.E1329K|AKNA_ENST00000223791.3_Missense_Mutation_p.E870K|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E1410K|AKNA_ENST00000374079.4_Missense_Mutation_p.E355K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGACGCTCTCGGCAGCCTGC	0.672000													12	21					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78652595	78652595	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:78652595C>G	ENST00000504123.1	-	9	1100	c.970G>C	c.(970-972)Gat>Cat	p.D324H	CNOT6L_ENST00000264903.4_Missense_Mutation_p.D324H			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	324					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCAATGTTATCTTTTGTCATC	0.393000													11	53					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658261	144658261	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:144658261C>G	ENST00000449291.2	-	8	1388	c.1094G>C	c.(1093-1095)cGa>cCa	p.R365P	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R365P|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R365P|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R365P|NAPRT1_ENST00000460623.1_5'UTR			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	365					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGCCAGTCGGGCCAGCGC	0.667000													9	14					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618343	158618343	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:158618343G>A	ENST00000368147.4	-	26	3850	c.3670C>T	c.(3670-3672)Cgg>Tgg	p.R1224W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1224W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTCATGCCGTCGCTGAAGA	0.502000													20	86					0	0	1	0	0
HES4	57801	broad.mit.edu	37	1	935177	935177	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:935177G>T	ENST00000428771.2	-	1	375	c.177C>A	c.(175-177)ccC>ccA	p.P59P	HES4_ENST00000304952.6_Intron|HES4_ENST00000484667.2_Intron	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	36	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTGCGGGTCGGGCACCGGCT	0.716000													8	59					0.000157383	0.000160954	1	1	0
TCF23	150921	broad.mit.edu	37	2	27373017	27373017	+	Silent	SNP	G	G	A	rs146034019		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:27373017G>A	ENST00000296096.5	+	2	379	c.249G>A	c.(247-249)gcG>gcA	p.A83A		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	83					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAATGCCGCGCGGGAGCGGA	0.657000													15	39					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886018	29886018	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:29886018G>A	ENST00000310624.6	+	4	2422	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	803	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAGTCCCCAGAGAAGGCGAA	0.552000													25	42					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53957948	53957948	+	RNA	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53957948C>G	ENST00000454407.1	+	0	640							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTCAACAGCGCAAGGCAACAG	0.373000													16	132					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36372536	36372536	+	Splice_Site	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:36372536G>A	ENST00000373204.4	+	12	1611	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	AGO1_ENST00000373206.1_Splice_Site_p.K391K	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GTGTGTACAGGAACTTCACAG	0.498000													35	46					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36123994	36123994	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:36123994C>G	ENST00000262633.4	+	6	629	c.524C>G	c.(523-525)tCt>tGt	p.S175C	RBM42_ENST00000589559.1_Intron|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.S153C	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	175						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTCTCTCCTCTGCAGCAGCC	0.682000													79	165					0	0	1	0	0
MMADHC	27249	broad.mit.edu	37	2	150432276	150432276	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:150432276C>A	ENST00000428879.1	-	5	1062	c.558G>T	c.(556-558)atG>atT	p.M186I	MMADHC_ENST00000303319.5_Missense_Mutation_p.M186I|MMADHC_ENST00000422782.2_Missense_Mutation_p.M186I			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	186						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TCCAAACAGTCATATCATTCT	0.279000													51	122					1.00776e-21	1.10398e-21	1	1	0
KCNIP4	80333	broad.mit.edu	37	4	21950212	21950212	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:21950212C>T	ENST00000382152.2	-	1	210	c.43G>A	c.(43-45)Gag>Aag	p.E15K	KCNIP4_ENST00000447367.2_Missense_Mutation_p.E15K	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	15	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAGCTGGCCTCCTCCAGCTGA	0.642000													20	18					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228523514	228523514	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:228523514G>A	ENST00000570156.2	+	74	19373	c.19299G>A	c.(19297-19299)gaG>gaA	p.E6433E	OBSCN_ENST00000422127.1_Silent_p.E5476E|OBSCN_ENST00000366707.4_Silent_p.E3110E|OBSCN_ENST00000284548.11_Silent_p.E5476E|OBSCN_ENST00000366709.4_Silent_p.E2595E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5476	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGCAGGAGAAAGTGAAGG	0.607000													22	31					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088772	32088772	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:32088772G>A	ENST00000438447.1	+	20	5606	c.5218G>A	c.(5218-5220)Gat>Aat	p.D1740N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1740N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1740					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.D1740H(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGACCTGCTAGATGACGAAAC	0.473000													47	108					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14744711	14744711	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:14744711G>C	ENST00000253697.3	+	6	1272	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	C3orf20_ENST00000412910.1_Missense_Mutation_p.E152Q|C3orf20_ENST00000435614.1_Missense_Mutation_p.E152Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	274						cytoplasm|integral to membrane		p.E274*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAACAGCCTGGAGTTCAGCGA	0.587000													165	190					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233464285	233464285	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:233464285G>A	ENST00000366624.3	+	1	772	c.511G>A	c.(511-513)Gag>Aag	p.E171K	MLK4_ENST00000366623.3_Missense_Mutation_p.E171K	NM_032435.2	NP_115811.2																					CGTGCGGCGCGAGGCTCGGCT	0.741000													5	6					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16601209	16601209	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:16601209C>T	ENST00000269881.3	-	3	428	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	122	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ATTTTCCATTCAGGTTCTTCT	0.423000													34	70					0	0	1	0	0
PDHX	8050	broad.mit.edu	37	11	34991767	34991767	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:34991767C>T	ENST00000448838.3	+	7	1095	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.H300Y	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	300					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TACTGTACCTCATGCATATGC	0.388000													22	38					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648300	130648300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr12:130648300C>A	ENST00000229030.4	+	1	1297	c.813C>A	c.(811-813)tgC>tgA	p.C271*	FZD10_ENST00000539839.1_Missense_Mutation_p.R239S			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	271					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGTGCTACTGCGTCTACTCCG	0.652000													24	127					3.83957e-06	3.95877e-06	1	1	0
SIAE	54414	broad.mit.edu	37	11	124509731	124509731	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:124509731G>A	ENST00000263593.3	-	8	1171	c.999C>T	c.(997-999)gaC>gaT	p.D333D	SIAE_ENST00000545756.1_Silent_p.D298D			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	333						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GAAATCCATCGTCTGAGCTCT	0.438000													46	55					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49962307	49962307	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:49962307C>G	ENST00000293350.4	+	3	447	c.284C>G	c.(283-285)gCg>gGg	p.A95G	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A95G|ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	95							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGCTGGAGTGCGCACCCCGGC	0.667000													46	87					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186123073	186123073	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:186123073G>C	ENST00000271588.4	+	97	15439	c.15210G>C	c.(15208-15210)caG>caC	p.Q5070H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q5070H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5070	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						ACTATAACCAGATAGAAGAGA	0.378000													7	43					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158049446	158049446	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:158049446T>A	ENST00000359775.5	+	4	1520	c.631T>A	c.(631-633)Tat>Aat	p.Y211N	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Y211N			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	211						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGATTTTTTTATATGTTTAT	0.373000													42	163					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884029	53884029	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:53884029C>G	ENST00000467003.1	+	4	290	c.89C>G	c.(88-90)aCa>aGa	p.T30R	ZNF525_ENST00000474037.1_Missense_Mutation_p.T66R|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						CAAGGCAATACAGAAGTGATC	0.358000													7	186					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004017	34004017	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:34004017C>T	ENST00000538487.2	-	9	2313	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.E508K|GRM4_ENST00000455714.2_Missense_Mutation_p.E484K|GRM4_ENST00000535756.1_Missense_Mutation_p.E491K|GRM4_ENST00000374181.4_Missense_Mutation_p.E624K|GRM4_ENST00000544773.2_Missense_Mutation_p.E455K|GRM4_ENST00000609222.1_Missense_Mutation_p.E491K	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TAGCTCAGTTCACGGCCCGAG	0.622000													11	20					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136198878	136198878	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:136198878G>A	ENST00000372022.4	-	5	1178	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	305						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCACCGGCGCTGCCGCTGC	0.701000													11	24					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41622708	41622708	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:41622708C>T	ENST00000319349.5	-	3	386	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	ETV4_ENST00000545089.1_Missense_Mutation_p.E30K|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000393664.2_Missense_Mutation_p.E30K|ETV4_ENST00000591713.1_Missense_Mutation_p.E30K|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000538265.1_5'UTR	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	30					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								5	9					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298804	65298804	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:65298804C>G	ENST00000377990.2	+	3	777	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	CEP68_ENST00000546106.1_Missense_Mutation_p.Q192E|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q192E	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	192					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTCCGCAGCTCAGCCTTCCAG	0.622000													6	36					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660715	150660715	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:150660715G>C	ENST00000335230.3	-	9	1415	c.1004C>G	c.(1003-1005)tCt>tGt	p.S335C	SLC36A3_ENST00000377713.3_Missense_Mutation_p.S376C	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	335						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCGATAGAGTACATCAG	0.517000													18	56					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31383331	31383331	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:31383331C>A	ENST00000328111.2	+	11	1564	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000375623.4_Silent_p.I304I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	415					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATGAAGATCAGAGCCGAGG	0.557000													24	250					6.12954e-19	6.68003e-19	1	1	0
SETD6	79918	broad.mit.edu	37	16	58550536	58550536	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:58550536G>C	ENST00000394266.4	+	5	480	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	SETD6_ENST00000219315.4_Missense_Mutation_p.E211Q|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.E187Q			Q8TBK2	SETD6_HUMAN	SET domain containing 6	211	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCGCTCCCTAGAACTCTACCA	0.562000													13	41					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139595	140139595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:140139595G>A	ENST00000344774.4	-	4	652	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	FAM166A_ENST00000388932.2_Nonsense_Mutation_p.Q200*	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	200										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GGCAGCCGCTGGAAGCTGCCC	0.682000													33	37					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689954	21689954	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:21689954G>T	ENST00000398485.2	+	4	1208	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	PAX1_ENST00000444366.2_Missense_Mutation_p.G361V|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	385					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGGGCGGCGGCTACCTCGCC	0.766000													19	19					7.87624e-14	8.43788e-14	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134077385	134077385	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:134077385G>C	ENST00000514516.1	-	9	2630	c.2452C>G	c.(2452-2454)Ctg>Gtg	p.L818V	AMOTL2_ENST00000422605.2_Missense_Mutation_p.L760V|AMOTL2_ENST00000513145.1_Missense_Mutation_p.L758V|AMOTL2_ENST00000249883.5_Missense_Mutation_p.L761V	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	760										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GACTTACCCAGAGAGGCTGCT	0.642000											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	33					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337687	20337687	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:20337687G>T	ENST00000302555.5	-	2	216	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	GP2_ENST00000381360.5_Missense_Mutation_p.L23M|GP2_ENST00000381362.4_Missense_Mutation_p.L23M|GP2_ENST00000341642.5_Missense_Mutation_p.L23M			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	23						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCTGGGTCAGAATGCAGGAG	0.537000													11	76					5.16669e-11	5.46094e-11	1	1	0
DST	667	broad.mit.edu	37	6	56483332	56483332	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:56483332C>G	ENST00000370765.6	-	23	5607	c.5500G>C	c.(5500-5502)Gag>Cag	p.E1834Q	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1245					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTATCAGCTCATCCTCAAGT	0.403000													37	137					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94578588	94578588	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:94578588G>C	ENST00000370225.3	-	2	187	c.101C>G	c.(100-102)tCt>tGt	p.S34C	ABCA4_ENST00000535735.1_Missense_Mutation_p.S34C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	34					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGAAATAAAGATAAAGGCCA	0.428000													47	70					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187373	140187373	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:140187373G>A	ENST00000530339.1	+	1	601	c.601G>A	c.(601-603)Gac>Aac	p.D201N	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D201N|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D201N|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCTTTAGACAGAGAAGA	0.453000													21	92					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42734247	42734247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr13:42734247G>A	ENST00000261491.5	+	7	851	c.830G>A	c.(829-831)tGg>tAg	p.W277*	DGKH_ENST00000379274.2_Nonsense_Mutation_p.W141*|DGKH_ENST00000540693.1_Nonsense_Mutation_p.W277*|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Nonsense_Mutation_p.W277*|DGKH_ENST00000536612.1_Nonsense_Mutation_p.W141*	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTACAGGATTGGAAATGCCTT	0.478000													69	184					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43242520	43242520	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr15:43242520C>G	ENST00000290650.4	-	46	5126	c.5048G>C	c.(5047-5049)aGa>aCa	p.R1683T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1683					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GGCACAGCCTCTGGCTTTACC	0.398000													22	78					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10396725	10396725	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:10396725A>T	ENST00000377086.1	+	29	3256	c.3054A>T	c.(3052-3054)gaA>gaT	p.E1018D	KIF1B_ENST00000263934.6_Missense_Mutation_p.E972D|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1018D			O60333	KIF1B_HUMAN	kinesin family member 1B	1018					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGGATGAAGAAGCTCCTGATT	0.398000													104	311					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													5	156					0.184627	0.184627	1	1	0
RBM27	54439	broad.mit.edu	37	5	145649132	145649132	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:145649132G>A	ENST00000265271.5	+	17	2842	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V	RBM27_ENST00000506502.1_Silent_p.V837V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	892					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			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)			CATCTAAAGTGAAGACAAAAA	0.353000													9	45					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21413861	21413861	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:21413861G>A	ENST00000313654.9	+	24	3134	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E965K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	965	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTATTCCACGGAGGCAGCTCA	0.547000													46	164					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891096	44891096	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:44891096G>A	ENST00000330997.4	-	4	1375	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF285_ENST00000591679.1_Silent_p.F444F|ZNF285_ENST00000544719.2_Silent_p.F437F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285									p.F437F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TACATTGGCTGAAGCCCTTTC	0.473000													44	74					0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136216479	136216479	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:136216479G>A	ENST00000323345.6	+	3	228	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	66					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGCAGCGGCAGAGAGCCATCC	0.562000													25	32					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481760	136481760	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:136481760G>A	ENST00000264160.4	+	26	3568	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q	R3HDM1_ENST00000409478.1_Silent_p.Q938Q|R3HDM1_ENST00000410054.1_Silent_p.Q1011Q|R3HDM1_ENST00000409606.1_Silent_p.Q1067Q|R3HDM1_ENST00000329971.3_Silent_p.Q937Q	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1066							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAGCTGCACAGAATGCACTGA	0.463000													22	26					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232208	113232208	+	Silent	SNP	C	C	G	rs71659369		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:113232208C>G	ENST00000369644.1	+	5	1374	c.345C>G	c.(343-345)ctC>ctG	p.L115L	MOV10_ENST00000357443.2_Silent_p.L171L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.L171L|MOV10_ENST00000369645.1_Silent_p.L171L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	171					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCTTCCCACTCTGCCGGACAC	0.562000													24	91					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38782645	38782645	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:38782645G>A	ENST00000301244.7	+	7	1193	c.758G>A	c.(757-759)tGa>tAa	p.*253*	SPINT2_ENST00000454580.3_Silent_p.*196*|SPINT2_ENST00000587090.1_Silent_p.*203*|CTB-102L5.4_ENST00000591889.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	0					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATGTCCTGTGACCGCCCTGT	0.557000													5	22					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785773	140785773	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:140785773G>A	ENST00000370515.3	-	2	476	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TAGTATGGTCGAGGACTCAGA	0.502000													84	323					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090294	52090294	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:52090294C>G	ENST00000262259.2	+	5	1068	c.710C>G	c.(709-711)tCt>tGt	p.S237C	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	237					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGCCATAGCTCTTCTGATGCC	0.433000													10	87					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242610825	242610825	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:242610825G>C	ENST00000405546.3	+	12	1615	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	ATG4B_ENST00000404914.3_Intron|ATG4B_ENST00000396411.3_Intron|ATG4B_ENST00000474739.2_Intron|ATG4B_ENST00000402096.1_Missense_Mutation_p.E297D			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	371					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CCCTAGGTGAGAGCTGCCAAG	0.607000													10	19					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988685	176988685	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:176988685C>T	ENST00000249499.6	+	2	1250	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	281						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAACTGGATCCACGCTCGCTC	0.587000													21	96					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150742300	150742300	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:150742300G>T	ENST00000358849.4	+	16	2114	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	ABCB8_ENST00000498578.1_Missense_Mutation_p.G649V|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.G691V|ABCB8_ENST00000542328.1_Missense_Mutation_p.G586V	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	691	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCAGGCTGGGACACATGAA	0.617000													23	86					7.87624e-14	8.43788e-14	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50716925	50716925	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:50716925G>A	ENST00000449103.1	-	30	4811	c.4671C>T	c.(4669-4671)atC>atT	p.I1557I	PLXNB2_ENST00000359337.4_Silent_p.I1557I			O15031	PLXB2_HUMAN	plexin B2	1557					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTTGGACAGGATGAGGGTGG	0.697000													4	6					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123976234	123976234	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:123976234G>C	ENST00000369005.1	+	11	7777	c.7437G>C	c.(7435-7437)caG>caC	p.Q2479H	TACC2_ENST00000358010.1_Missense_Mutation_p.Q625H|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2479H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2434H|TACC2_ENST00000369001.1_Missense_Mutation_p.Q183H|TACC2_ENST00000453444.2_Missense_Mutation_p.Q2483H|TACC2_ENST00000369000.1_Missense_Mutation_p.Q179H|TACC2_ENST00000368999.1_Missense_Mutation_p.Q569H|TACC2_ENST00000513429.1_Missense_Mutation_p.Q625H|TACC2_ENST00000369004.3_Missense_Mutation_p.Q569H|TACC2_ENST00000360561.3_Missense_Mutation_p.Q557H|TACC2_ENST00000260733.3_Missense_Mutation_p.Q557H|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2483H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2479						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCACCAACCAGAAGTGGACGT	0.562000													33	142					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349171	89349171	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:89349171G>A	ENST00000301030.4	-	9	4239	c.3779C>T	c.(3778-3780)tCg>tTg	p.S1260L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1260L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1260	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTTGTCCGACTTCTCTTT	0.473000													31	109					0	0	1	0	0
ARTN	9048	broad.mit.edu	37	1	44402340	44402340	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:44402340G>A	ENST00000414809.3	+	5	1372	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARTN_ENST00000498139.2_Missense_Mutation_p.R197Q|ARTN_ENST00000372354.3_Missense_Mutation_p.R189Q|ARTN_ENST00000438616.3_Missense_Mutation_p.R206Q|ARTN_ENST00000372359.5_Missense_Mutation_p.R189Q	NM_057090.2	NP_476431.2	Q5T4W7	ARTN_HUMAN	artemin	189					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGCTGCCGACCCACGCGC	0.741000													8	10					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985134	72985134	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:72985134A>T	ENST00000553530.1	+	15	1374	c.1167A>T	c.(1165-1167)caA>caT	p.Q389H	RGS6_ENST00000343854.6_Missense_Mutation_p.Q352H|RGS6_ENST00000553525.1_Missense_Mutation_p.Q389H|RGS6_ENST00000554782.1_Missense_Mutation_p.Q250H|RGS6_ENST00000407322.4_Missense_Mutation_p.Q389H|RGS6_ENST00000555571.1_Missense_Mutation_p.Q389H|RGS6_ENST00000355512.6_Missense_Mutation_p.Q389H|RGS6_ENST00000434263.2_Missense_Mutation_p.Q320H|RGS6_ENST00000556437.1_Missense_Mutation_p.Q389H|RGS6_ENST00000402788.2_Missense_Mutation_p.Q389H|RGS6_ENST00000406236.4_Missense_Mutation_p.Q389H|RGS6_ENST00000404301.2_Missense_Mutation_p.Q389H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	389	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAATCTGGCAAGAGTTTCTGG	0.473000													15	21					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79054602	79054602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:79054602C>T	ENST00000446378.2	+	7	11168	c.11137C>T	c.(11137-11139)Cag>Tag	p.Q3713*	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3713	Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTAGAACCTCAGGAACCAAA	0.383000													24	41					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353090	105353090	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr14:105353090C>T	ENST00000453495.1	+	12	2745	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	CEP170B_ENST00000418279.1_Silent_p.V768V|CEP170B_ENST00000414716.3_Silent_p.V838V|CEP170B_ENST00000556508.1_Silent_p.V768V					centrosomal protein 170B																		GCGTCTATGTCAGTGCCAATG	0.637000													26	19					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68192637	68192637	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:68192637G>A	ENST00000294304.7	+	15	3410	c.3304G>A	c.(3304-3306)Gag>Aag	p.E1102K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1102	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGGCACCGAGCGCGAGGT	0.662000													47	49					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056322	44056322	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:44056322C>T	ENST00000262887.5	-	9	1476	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	XRCC1_ENST00000543982.1_Missense_Mutation_p.R279Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	310					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGGGCCAGCTCGGGGTCGTCT	0.652000								Other BER factors					9	65					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975882	20975882	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:20975882A>T	ENST00000261383.3	-	53	9323	c.9324T>A	c.(9322-9324)gaT>gaA	p.D3108E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3108	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTAGTTGCTATCAGAGAACT	0.473000													25	159					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582134	180582134	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:180582134C>T	ENST00000328275.1	+	1	192	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTCTTCCTCAGCCAGCTCT	0.537000													49	185					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133506166	133506166	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:133506166G>A	ENST00000319725.9	+	13	1344	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	423					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TCATAGATGAGAAAGTTGGCG	0.562000													16	29					0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149375675	149375675	+	Silent	SNP	A	A	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr5:149375675A>G	ENST00000296736.3	-	2	1011	c.237T>C	c.(235-237)gaT>gaC	p.D79D	TIGD6_ENST00000515406.2_Silent_p.D79D	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	79	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACAGCCTTATCAATGTCAT	0.443000													61	265					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45228060	45228060	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:45228060G>A	ENST00000372217.1	+	17	1983	c.1632G>A	c.(1630-1632)caG>caA	p.Q544Q	KIF2C_ENST00000372222.3_Silent_p.Q485Q|KIF2C_ENST00000372224.4_Silent_p.Q598Q|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Silent_p.Q557Q			Q99661	KIF2C_HUMAN	kinesin family member 2C	598					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTGGAGAGCAGTTGATTCAAA	0.552000													44	39					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19612807	19612807	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:19612807C>T	ENST00000404158.1	+	12	1951	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	GATAD2A_ENST00000360315.3_Silent_p.F510F|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000537887.1_Silent_p.F139F|GATAD2A_ENST00000252577.5_Intron|GATAD2A_ENST00000358713.3_Silent_p.F510F			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	510					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGTTGGCGTTCCGCTCAGGAG	0.667000													49	102					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105793805	105793805	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:105793805C>G	ENST00000353479.5	-	52	4344	c.4054G>C	c.(4054-4056)Gaa>Caa	p.E1352Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.E1270Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1352	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATGCCGCCTTCTGCTGCTGCC	0.597000													21	67					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812136	2812136	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:2812136C>T	ENST00000301740.8	+	11	2156	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	536	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCTAGGTCTCCTCAGCGA	0.602000													29	47					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440706	124440706	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:124440706G>C	ENST00000284287.3	+	1	814	c.742G>C	c.(742-744)Gag>Cag	p.E248Q		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E248K(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAGCACCACAGAGGGGAGATC	0.478000													26	33					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633868	19633868	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:19633868C>T	ENST00000235835.3	-	4	649	c.628G>A	c.(628-630)Gag>Aag	p.E210K		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	210					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAGAGCTCCGTTTCCACC	0.592000													31	32					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133342	57133342	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:57133342C>T	ENST00000328070.6	+	3	921	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCCTCTCTCACCCAGCACG	0.642000													10	74					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128796359	128796359	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr10:128796359C>G	ENST00000280333.6	+	8	722	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	205					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACACAGTCTCAAAAGCAGAA	0.388000													22	33					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579131	55579131	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:55579131C>T	ENST00000333973.2	+	1	278	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACTTTTTCCTCAGCCACTTGT	0.458000													203	223					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25628143	25628143	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:25628143C>T	ENST00000328664.4	+	5	922	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RHD_ENST00000357542.4_Missense_Mutation_p.S256L|RHD_ENST00000454452.2_Missense_Mutation_p.S256L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.S256L|RHD_ENST00000423810.2_Missense_Mutation_p.S256L|RHD_ENST00000417538.2_Missense_Mutation_p.S256L|RHD_ENST00000342055.5_Missense_Mutation_p.S256L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	256						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCAGGGTCATCCTTGGCT	0.537000													31	135					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162274332	162274332	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:162274332A>C	ENST00000389554.3	+	2	1155	c.838A>C	c.(838-840)Aat>Cat	p.N280H		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	280						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGCGGACACCAATGTGCAAGG	0.433000													12	60					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754279	237754279	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:237754279C>T	ENST00000366574.2	+	31	4464	c.4147C>T	c.(4147-4149)Cgt>Tgt	p.R1383C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1367C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1381C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1383	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGCCCTCTCGTCTGAAACA	0.398000													3	29					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167414821	167414821	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:167414821G>C	ENST00000392750.2	-	5	661	c.244C>G	c.(244-246)Cgt>Ggt	p.R82G	PDCD10_ENST00000471885.1_Missense_Mutation_p.R82G|PDCD10_ENST00000497056.2_Missense_Mutation_p.R82G|PDCD10_ENST00000473645.2_Missense_Mutation_p.R82G|PDCD10_ENST00000487947.2_Missense_Mutation_p.R82G|PDCD10_ENST00000470131.1_Missense_Mutation_p.R82G|PDCD10_ENST00000492396.1_Missense_Mutation_p.R19G|PDCD10_ENST00000461494.1_Missense_Mutation_p.R82G	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	82					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCTGCCATACGAAGAAGGGAC	0.348000													38	89					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52883194	52883194	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:52883194G>C	ENST00000356971.3	-	8	1086	c.597C>G	c.(595-597)ctC>ctG	p.L199L	ICK_ENST00000350082.5_Silent_p.L199L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	199	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CTCCAGGGAAGAGTGGCCTGA	0.507000													49	133					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132230063	132230063	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:132230063G>A	ENST00000260818.6	+	44	5516	c.5268G>A	c.(5266-5268)ctG>ctA	p.L1756L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1756							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGCTCTGAGAAATGTCA	0.403000													48	95					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157688927	157688927	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:157688927C>G	ENST00000502773.1	-	5	1409	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	PDGFC_ENST00000542208.1_Missense_Mutation_p.E152Q|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E144Q	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	307					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACCTACCTCGTGGTATTTT	0.378000													6	78					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3104472	3104472	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:3104472A>C	ENST00000259808.4	+	8	1227	c.929A>C	c.(928-930)aAc>aCc	p.N310T	RIPK1_ENST00000380409.2_Missense_Mutation_p.N310T|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.N264T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	310	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGTATTCAAACGAAAATGCA	0.343000													13	49					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49104485	49104485	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:49104485G>A	ENST00000263266.3	-	5	1507	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	440										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GACAGATAGCGGAGGCGGTGG	0.706000													7	24					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621835	621835	+	Silent	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:621835C>A	ENST00000588649.2	-	10	1947	c.1863G>T	c.(1861-1863)ctG>ctT	p.L621L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	621					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GGTGCGGCTTCAGGATGCCGA	0.682000													9	41					7.48243e-07	7.76548e-07	1	1	0
ILK	3611	broad.mit.edu	37	11	6631497	6631497	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:6631497G>C	ENST00000396751.2	+	11	1653	c.1197G>C	c.(1195-1197)gaG>gaC	p.E399D	ILK_ENST00000420936.2_Missense_Mutation_p.E399D|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.E338D|ILK_ENST00000299421.4_Missense_Mutation_p.E399D|ILK_ENST00000537806.1_Missense_Mutation_p.E265D	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	399	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CCAATATGGAGATTGGAATGA	0.483000													15	45					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753643	104753643	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:104753643C>T	ENST00000334877.4	+	26	5848	c.5314C>T	c.(5314-5316)Cat>Tat	p.H1772Y	KMT2E_ENST00000311117.3_Missense_Mutation_p.H1814Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1814Y|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		GTTCTGTCCTCATCCTGGCTC	0.552000													19	57					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803652	185803652	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:185803652C>G	ENST00000302277.6	+	4	4123	c.3529C>G	c.(3529-3531)Ctt>Gtt	p.L1177V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1177						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCTTCCGTTCTTCATCCTAG	0.512000													43	162					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548384	50548384	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:50548384G>C	ENST00000595661.1	+	6	1179	c.684G>C	c.(682-684)tgG>tgC	p.W228C	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.W216C|ZNF473_ENST00000391821.2_Missense_Mutation_p.W228C|ZNF473_ENST00000270617.3_Missense_Mutation_p.W228C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	228					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCCAGCACTGGATCACTCATA	0.488000													35	95					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880050	100880050	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:100880050G>A	ENST00000341189.4	+	5	947	c.81G>A	c.(79-81)ctG>ctA	p.L27L	ARMCX3_ENST00000537169.1_Silent_p.L27L|ARMCX3_ENST00000471229.2_Silent_p.L27L	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	27						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTTATAGACTGACTAGGGGAA	0.537000													39	20					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653114	55653114	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:55653114G>A	ENST00000449290.2	+	2	302	c.210G>A	c.(208-210)ttG>ttA	p.L70L		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	70						intracellular	zinc ion binding										ACATTTGTTTGAAGAACATGG	0.473000													30	25					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366584	248366584	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:248366584T>A	ENST00000456743.1	+	1	253	c.215T>A	c.(214-216)aTg>aAg	p.M72K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGACCTCATGCTCATCTGC	0.512000													78	328					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17616823	17616823	+	Silent	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:17616823G>T	ENST00000262077.2	-	21	4277	c.4278C>A	c.(4276-4278)gcC>gcA	p.A1426A	NUP153_ENST00000537253.1_Silent_p.A1457A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1426					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGGGCTGAGGCTGCAGGTG	0.463000													30	50					4.22769e-11	4.47597e-11	1	1	0
RIT2	6014	broad.mit.edu	37	18	40323575	40323575	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:40323575C>T	ENST00000326695.5	-	5	708	c.537G>A	c.(535-537)agG>agA	p.R179R	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	179					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCGAATTTCCCTCACTAAGC	0.418000													27	82					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813775	158813775	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:158813775G>A	ENST00000368141.4	+	4	694	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	145					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAAAGACTGAAGCCAAAAG	0.428000													18	93					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093183	77093183	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:77093183C>T	ENST00000328299.3	+	4	818	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	224					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TACCTTCCTTCTGGCCATGGA	0.423000													25	118					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910013	57910013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:57910013C>T	ENST00000366197.5	+	3	608	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Q132*|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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)		AGAGCTTTTTCAGCACCCAAA	0.448000													35	87					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447816	19447816	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:19447816C>T	ENST00000375267.2	-	68	10011	c.10008G>A	c.(10006-10008)ctG>ctA	p.L3336L	UBR4_ENST00000375217.2_Silent_p.L3329L|UBR4_ENST00000375254.3_Silent_p.L3336L|UBR4_ENST00000375226.2_Silent_p.L3312L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3336					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGAGGCTGCCAGTGCAGCGA	0.577000													14	59					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45317864	45317864	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:45317864G>A	ENST00000589651.1	+	8	979	c.925G>A	c.(925-927)Gag>Aag	p.E309K	BCAM_ENST00000270233.6_Missense_Mutation_p.E309K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 1.|Interaction with laminin alpha5.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTCCCAGGATGAGCAGGAGGA	0.602000													18	45					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138255724	138255724	+	Silent	SNP	T	T	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:138255724T>C	ENST00000343526.4	+	11	2069	c.1854T>C	c.(1852-1854)tcT>tcC	p.S618S	TRIM24_ENST00000415680.2_Silent_p.S584S			O15164	TIF1A_HUMAN	tripartite motif containing 24	618					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGGAGGGTCTTATAATCTTC	0.478000													55	115					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486186	41486186	+	Silent	SNP	G	G	C	rs140351391		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:41486186G>C	ENST00000359345.1	-	1	2723	c.147C>G	c.(145-147)ctC>ctG	p.L49L	SLFNL1_ENST00000372613.2_Silent_p.L49L|SLFNL1_ENST00000439569.2_Silent_p.L49L|SLFNL1_ENST00000372611.1_Silent_p.L49L|SLFNL1_ENST00000302946.8_Silent_p.L49L|SLFNL1_ENST00000397197.2_Silent_p.L49L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	49							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GGCCCACATAGAGAGTGTGCG	0.657000													39	64					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168743	8168743	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:8168743C>T	ENST00000314666.6	+	19	2551	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L	PFAS_ENST00000545834.1_Silent_p.L382L	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	806					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGACTCCCTCAGCATGGCTG	0.652000													35	40					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52822056	52822056	+	Splice_Site	SNP	C	C	T	rs142476933		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:52822056C>T	ENST00000371586.2	-	17	2093	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q	CC2D1B_ENST00000438831.1_Splice_Site_p.R27Q|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.R646Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	652										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCACTTACCGGGTGGTCTC	0.567000													58	107					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73499210	73499210	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:73499210C>T	ENST00000321617.3	-	18	2531	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E567K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	649						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGTCCCTCGATGGCCATC	0.701000													4	7					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168315992	168315992	+	Missense_Mutation	SNP	C	C	T	rs139174764		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:168315992C>T	ENST00000366806.2	+	18	2565	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	MLLT4_ENST00000351017.4_Missense_Mutation_p.S815L|MLLT4_ENST00000447894.2_Missense_Mutation_p.S808L|MLLT4_ENST00000392108.3_Missense_Mutation_p.S808L|MLLT4_ENST00000344191.4_Missense_Mutation_p.S808L|MLLT4_ENST00000400822.3_Missense_Mutation_p.S807L|MLLT4_ENST00000392112.1_Missense_Mutation_p.S792L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	808	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACCCAGATTCGGGGCTGTGC	0.557000			T	MLL	AL								6	41					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640274	156640274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr1:156640274G>A	ENST00000368223.3	-	4	3838	c.3706C>T	c.(3706-3708)Cag>Tag	p.Q1236*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1236	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGCTGAGGCCCAGGG	0.637000													50	73					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198067	185198067	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:185198067C>G	ENST00000265026.3	+	13	2883	c.2549C>G	c.(2548-2550)tCt>tGt	p.S850C	MAP3K13_ENST00000443863.1_Missense_Mutation_p.S706C|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S706C|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S643C|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S850C	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	850					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTTTAGCTCTGAGAATTTC	0.458000													41	104					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71098717	71098717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr4:71098717C>T	ENST00000317987.5	+	3	176	c.64C>T	c.(64-66)Caa>Taa	p.Q22*		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	22						extracellular region											TTAGGTCTCTCAAGACCAGGA	0.274000													24	133					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	32					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16552643	16552643	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:16552643C>T	ENST00000380672.4	-	5	611	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	BNC2_ENST00000380666.2_Missense_Mutation_p.R185Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R90Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R118Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATCTTTAGCCGCACAGGCAC	0.567000													14	54					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10250074	10250074	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr17:10250074C>T	ENST00000418404.3	-	12	1349	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MYH13_ENST00000252172.4_Missense_Mutation_p.E396K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	396	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCAGCATTTCTGCAGAATTC	0.463000													6	29					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68725808	68725808	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr16:68725808G>A	ENST00000264012.4	+	13	2525	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	CDH3_ENST00000429102.2_Missense_Mutation_p.G661R|CDH3_ENST00000581171.1_Missense_Mutation_p.G606R	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCTGTGCTGGGGGCTGTCCT	0.602000													24	43					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42524794	42524794	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr22:42524794G>T	ENST00000360608.5	-	4	772	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.L220M|CYP2D6_ENST00000359033.4_Missense_Mutation_p.L169M|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	220							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCTCGCGCAGAAAGCCCGAC	0.667000													3	28					6.4e-05	6.55584e-05	1	1	0
ACTR8	93973	broad.mit.edu	37	3	53910037	53910037	+	Silent	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:53910037G>A	ENST00000335754.3	-	7	949	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ACTR8_ENST00000231909.7_Silent_p.D33D|ACTR8_ENST00000482349.1_Silent_p.D172D	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	283					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GGTCCCCAACGTCTACAATAC	0.512000													8	72					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022107	14022107	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:14022107C>T	ENST00000382080.1	-	5	1244	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.E130K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	164					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTCAGCTTTTCAGCCCCAATG	0.398000													15	37					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100875904	100875904	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr7:100875904C>T	ENST00000401528.1	-	5	1687	c.562G>A	c.(562-564)Gac>Aac	p.D188N	CLDN15_ENST00000308344.5_Missense_Mutation_p.D188N	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	188					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GGGTCCTCGTCAGAGCCGCAG	0.731000													6	6					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651729	651729	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:651729C>T	ENST00000292363.5	-	4	480	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	109							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CGCCGGCTCTCAGGGTCCCTG	0.716000													11	19					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69457924	69457924	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:69457924C>T	ENST00000227507.2	+	2	551	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	108	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTTGCATGTTCGTGGCCTCTA	0.612000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			5	54					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720467	135720467	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:135720467G>A	ENST00000264977.3	+	2	744	c.127G>A	c.(127-129)Gac>Aac	p.D43N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	43					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACATGGAATTGACTGCATTGT	0.458000													32	78					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:145147383C>G	ENST00000558170.2	-	10	4464	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617000													13	66					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68030216	68030216	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:68030216C>T	ENST00000304271.6	-	4	649	c.247G>A	c.(247-249)Gac>Aac	p.D83N	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Missense_Mutation_p.D83N	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	83						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTGCTTGTGTCCTCTGTTGTG	0.537000													21	63					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784377	8784377	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr18:8784377G>C	ENST00000359865.3	+	6	1409	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	SOGA2_ENST00000400050.3_Missense_Mutation_p.E423Q|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E423Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E783Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	774																	GGAAATGTTTGAGAAGACGTC	0.647000													18	51					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251498	129251498	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:129251498C>A	ENST00000296271.3	+	4	913	c.819C>A	c.(817-819)ttC>ttA	p.F273L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	273					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCGTGGCATTCTACATCTTCA	0.557000													29	56					2.61193e-14	2.80772e-14	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52595952	52595952	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:52595952C>G	ENST00000356770.4	-	24	4025	c.4023G>C	c.(4021-4023)aaG>aaC	p.K1341N	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.K1373N|PBRM1_ENST00000296302.7_Missense_Mutation_p.K1373N|PBRM1_ENST00000409767.1_Missense_Mutation_p.K1388N|PBRM1_ENST00000409114.3_Missense_Mutation_p.K1388N|PBRM1_ENST00000337303.4_Missense_Mutation_p.K1373N|PBRM1_ENST00000394830.3_Missense_Mutation_p.K1321N|PBRM1_ENST00000410007.1_Missense_Mutation_p.K1348N			Q86U86	PB1_HUMAN	polybromo 1	1373					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCCTTCCTTCTTTGCACTGC	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								16	102					0	0	1	0	0
SCAND1	51282	broad.mit.edu	37	20	34541723	34541723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr20:34541723C>A	ENST00000373991.3	-	3	1554	c.484G>T	c.(484-486)Gag>Tag	p.E162*	SCAND1_ENST00000305978.2_Nonsense_Mutation_p.E162*			P57086	SCND1_HUMAN	SCAN domain containing 1	162	SCAN box.				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					CGAGCCGCCTCGGGCAGGATG	0.726000													34	7					4.14481e-20	4.52487e-20	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44701147	44701147	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:44701147C>G	ENST00000396056.2	+	4	1527	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.S271C	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	431				Missing (in Ref. 1; CAA30268).	cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGTCAGCTCTCTTGCCTTATT	0.443000													28	57					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8617036	8617036	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:8617036C>G	ENST00000338257.8	-	7	784	c.517G>C	c.(517-519)Gag>Cag	p.E173Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	173	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACTGGATCTCAAAGTACTTG	0.557000													31	141					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60906235	60906235	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:60906235C>G	ENST00000301765.5	-	2	299	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	23					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGCTGGTCAATCGCCTCC	0.557000													14	36					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571251	167571251	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:167571251C>T	ENST00000366834.1	-	1	566	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	23						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GCCCACACTCCAGCCCCAGCA	0.657000													7	19					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651727	651727	+	Silent	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:651727C>T	ENST00000292363.5	-	4	482	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	109							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CCCGCCGGCTCTCAGGGTCCC	0.716000													11	18					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367816	40367816	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:40367816C>T	ENST00000221347.6	-	29	13151	c.13144G>A	c.(13144-13146)Gag>Aag	p.E4382K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4382	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGGCCCTCACATACGGCT	0.637000													10	32					0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99017208	99017208	+	Silent	SNP	G	G	C			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr9:99017208G>C	ENST00000375263.3	-	3	266	c.219C>G	c.(217-219)ctC>ctG	p.L73L	HSD17B3_ENST00000375262.2_Silent_p.L73L	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	73					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GGACAACATTGAGTCCACGTT	0.512000													8	29					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38649676	38649676	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr3:38649676C>G	ENST00000413689.1	-	8	1157	c.964G>C	c.(964-966)Gat>Cat	p.D322H	SCN5A_ENST00000414099.2_Missense_Mutation_p.D322H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D322H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D322H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D322H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D322H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D322H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D322H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D322H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D322H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	322					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTAACACATCAGAGGTGCCG	0.547000													46	107					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877596	2877596	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr19:2877596C>T	ENST00000586426.1	+	4	724	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	ZNF556_ENST00000307635.2_Missense_Mutation_p.R214C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GACATTTCTTCGTTCCCACTC	0.498000													27	54					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761548	74761555	+	Frame_Shift_Del	DEL	TGTGGTAA	TGTGGTAA	-			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr2:74761548_74761555delTGTGGTAA	ENST00000264094.3	-	11	1898_1905	c.1827_1834delTTACCACA	c.(1825-1836)cattaccacagcfs	p.HYHS609fs	LOXL3_ENST00000393937.2_Frame_Shift_Del_p.HYHS464fs|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Del_p.HYHS553fs|LOXL3_ENST00000409986.1_Frame_Shift_Del_p.HYHS464fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	609	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ATGTCCATGCTGTGGTAATGCCTGTGGG	0.534													7	65	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agcagg>agg	p.S81del	RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													2	4	---	---	---	---					
IKBKB	3551	broad.mit.edu	37	8	42171858	42171885	+	Frame_Shift_Del	DEL	GAAGAGTGAGGTGGACATTGTTGTTAGC	GAAGAGTGAGGTGGACATTGTTGTTAGC	-	rs151151310	byFrequency	TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr8:42171858_42171885delGAAGAGTGAGGTGGACATTGTTGTTAGC	ENST00000520810.1	+	9	897_924	c.711_738delGAAGAGTGAGGTGGACATTGTTGTTAGC	c.(709-738)cagaagagtgaggtggacattgttgttagcfs	p.QKSEVDIVVS237fs	IKBKB_ENST00000520835.1_Frame_Shift_Del_p.QKSEVDIVVS235fs|IKBKB_ENST00000379708.3_Frame_Shift_Del_p.QKSEVDIVVS14fs|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Frame_Shift_Del_p.QKSEVDIVVS178fs	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	237	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AAGTGCGGCAGAAGAGTGAGGTGGACATTGTTGTTAGCGAAGACTTGA	0.421													7	105	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													5	5	---	---	---	---					
KAL1	3730	broad.mit.edu	37	X	8565138	8565138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A6MD-01A-41D-A34U-08	TCGA-E7-A6MD-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb767a9-f80b-4845-b783-27005a8a6b34	d683b1c3-abc9-4ac0-a058-fbd57f06546f	g.chrX:8565138delC	ENST00000262648.3	-	4	627	c.478delG	c.(478-480)gtgfs	p.V160fs		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	160	WAP.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CATTTCTTCACCCCAGAGCAC	0.542													33	33	---	---	---	---					
