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
KCNK18	338567	broad.mit.edu	37	10	118960766	118960766	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:118960766T>A	ENST00000334549.1	+	2	320	c.320T>A	c.(319-321)cTc>cAc	p.L107H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	107						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGAGCTCGCTCTTTTTCTGC	0.567000													39	104					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49660603	49660603	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:49660603G>C	ENST00000339139.4	-	10	851	c.615C>G	c.(613-615)tgC>tgG	p.C205W		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	205						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGATACTGGCAACTATTGG	0.413000													13	43					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572275	41572275	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:41572275G>T	ENST00000263253.7	+	30	6023	c.4804G>T	c.(4804-4806)Gct>Tct	p.A1602S	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1602	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						CCGCCTCATTGCTGGCCCTGC	0.542000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				59	139					9.65139e-37	1.46195e-36	1	1	0
SAMD4A	23034	broad.mit.edu	37	14	55241726	55241726	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:55241726G>T	ENST00000251091.5	+	8	1831	c.1526G>T	c.(1525-1527)cGc>cTc	p.R509L	SAMD4A_ENST00000555192.1_Missense_Mutation_p.R188L|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R597L|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R596L|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R597L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	597					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGGAACCCGCGCCAGTACCAG	0.637000													29	61					2.24059e-21	3.16561e-21	1	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99342515	99342515	+	Silent	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:99342515G>C	ENST00000408927.3	+	12	1523	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	RAP1GDS1_ENST00000453712.2_Silent_p.L470L|RAP1GDS1_ENST00000339360.5_Silent_p.L471L|RAP1GDS1_ENST00000380158.4_Silent_p.L422L|RAP1GDS1_ENST00000264572.7_Silent_p.L379L|RAP1GDS1_ENST00000408900.3_Silent_p.L421L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	470							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ACAGACTGCTGTCTGCCCTTA	0.428000			T	NUP98	T-ALL								11	33					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628059	71628059	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:71628059G>A	ENST00000377276.2	-	1	980	c.950C>T	c.(949-951)cCg>cTg	p.P317L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	317	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.P317Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTGTACTTCGGGATGAAGGG	0.532000													35	95					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73008014	73008014	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:73008014G>A	ENST00000393590.2	+	2	750	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	P2RY6_ENST00000393592.2_Missense_Mutation_p.V151M|P2RY6_ENST00000540342.1_Missense_Mutation_p.V151M|P2RY6_ENST00000393591.1_Missense_Mutation_p.V151M|P2RY6_ENST00000540124.1_Missense_Mutation_p.V151M|P2RY6_ENST00000538328.1_Missense_Mutation_p.V151M|P2RY6_ENST00000542092.1_Missense_Mutation_p.V151M|P2RY6_ENST00000349767.2_Missense_Mutation_p.V151M	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	151					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GTGTGTAGCCGTGTGGCTGGC	0.667000													27	70					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588215	61588215	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:61588215A>G	ENST00000370349.3	+	3	344	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SLC17A9_ENST00000370351.4_Missense_Mutation_p.Q53R|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	53					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCCATGAGCCAGGACTTCGGC	0.652000													15	37					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053168	44053168	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:44053168C>A	ENST00000306006.6	-	2	1012	c.360G>T	c.(358-360)ctG>ctT	p.L120L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Silent_p.L120L|ZNF239_ENST00000426961.1_Silent_p.L120L|ZNF239_ENST00000374446.2_Silent_p.L120L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATCAGACACCAGTTTAACTT	0.428000													36	87					7.11191e-15	9.28164e-15	1	1	0
FBN3	84467	broad.mit.edu	37	19	8168502	8168502	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:8168502T>C	ENST00000600128.1	-	39	5297	c.4883A>G	c.(4882-4884)tAc>tGc	p.Y1628C	FBN3_ENST00000270509.2_Missense_Mutation_p.Y1628C|FBN3_ENST00000601739.1_Missense_Mutation_p.Y1628C			Q75N90	FBN3_HUMAN	fibrillin 3	1628	EGF-like 25; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACACAGGTGTAGTTCCCCAG	0.557000													22	36					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42993799	42993799	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:42993799G>T	ENST00000244496.5	+	4	380	c.370G>T	c.(370-372)Gat>Tat	p.D124Y		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	124					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCGCTTTGATGATCTGTCAGG	0.428000													11	26					3.07112e-06	3.3702e-06	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													7	51					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35542108	35542108	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:35542108G>A	ENST00000453357.2	+	6	801	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	UNC5D_ENST00000416672.1_Missense_Mutation_p.G254S|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Missense_Mutation_p.G254S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	254					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGTGAATGGAGGCTGGTCTTC	0.527000													25	56					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169345927	169345927	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:169345927C>T	ENST00000367808.3	+	3	601	c.178C>T	c.(178-180)Cca>Tca	p.P60S	BLZF1_ENST00000367807.3_Missense_Mutation_p.P60S|BLZF1_ENST00000329281.2_Missense_Mutation_p.P60S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	60					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCAGAGAGCCCAGGAGTTCT	0.423000													21	65					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616522	25616522	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:25616522C>A	ENST00000232165.3	-	6	1455	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.D247Y|UBE3A_ENST00000397954.2_Missense_Mutation_p.D270Y|UBE3A_ENST00000428984.2_Missense_Mutation_p.D247Y|UBE3A_ENST00000566215.1_Missense_Mutation_p.D247Y	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	270					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TACGTCAAGTCACATTCCACG	0.368000													31	75					7.01153e-11	8.45778e-11	1	1	0
FSCB	84075	broad.mit.edu	37	14	44973723	44973723	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:44973723G>T	ENST00000340446.4	-	1	2759	c.2468C>A	c.(2467-2469)cCt>cAt	p.P823H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	823						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTACAGTTCAGGAGGACGTTG	0.393000													17	37					1.02788e-11	1.2563e-11	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47987506	47987506	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr21:47987506G>C	ENST00000318711.7	+	38	4873	c.4690G>C	c.(4690-4692)Gac>Cac	p.D1564H	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.D1563H|DIP2A_ENST00000400274.1_Missense_Mutation_p.D1559H	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1563					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGACCAGCTGGACCCCATCTA	0.617000													28	68					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446935	197446935	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:197446935C>A	ENST00000367400.3	+	12	4282	c.4147C>A	c.(4147-4149)Cgt>Agt	p.R1383S	CRB1_ENST00000367399.2_Missense_Mutation_p.R1271S|CRB1_ENST00000538660.1_Missense_Mutation_p.R847S|CRB1_ENST00000535699.1_Missense_Mutation_p.R1359S|CRB1_ENST00000544212.1_Missense_Mutation_p.R864S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1383			R -> H (in RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGCCCCAGCCGTCAGGAGAA	0.542000													19	75					2.94398e-08	3.38338e-08	1	1	0
GCC2	9648	broad.mit.edu	37	2	109098761	109098761	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:109098761G>T	ENST00000309863.6	+	11	3913	c.3199G>T	c.(3199-3201)Gat>Tat	p.D1067Y		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1067					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATAAATTCTGATAATGAAGA	0.333000													13	34					3.27435e-08	3.75372e-08	1	1	0
ARNT2	9915	broad.mit.edu	37	15	80762620	80762620	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:80762620C>A	ENST00000533983.1	+	5	562	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	ARNT2_ENST00000303329.4_Missense_Mutation_p.L86I|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.L75I			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	86	Poly-Arg.			R -> K (in Ref. 2; BAA20766).	central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATCACGGAGCTCTCCGACAT	0.542000													12	36					0.00010058	0.000107565	1	1	0
CCKBR	887	broad.mit.edu	37	11	6290966	6290966	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6290966G>A	ENST00000525462.1	+	2	222	c.219G>A	c.(217-219)atG>atA	p.M73I	CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Missense_Mutation_p.M73I|CCKBR_ENST00000525014.1_Missense_Mutation_p.M73I			P32239	GASR_HUMAN	cholecystokinin B receptor	73					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGGAAATATGCTCATCATCG	0.552000													40	80					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150052870	150052870	+	Splice_Site	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:150052870C>A	ENST00000340413.2	-	7	868	c.790_splice	c.e7-1	p.M264_splice	NUP43_ENST00000460354.2_Splice_Site_p.M264_splice|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Splice_Site_p.V168_splice	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	264					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GAACTTCCCACACTAAGAGAC	0.448000													16	52					8.10497e-08	9.24567e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAAGACGGTGGGTGCA	0.567000													32	75					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111428319	111428319	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:111428319C>T	ENST00000436913.2	+	5	678	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	LAYN_ENST00000533265.1_Missense_Mutation_p.L238F|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.L246F|LAYN_ENST00000375614.2_Missense_Mutation_p.L238F|LAYN_ENST00000375615.3_Missense_Mutation_p.L246F	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	246	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCTTCTCCTCCTCCTTGTGGT	0.428000													170	510					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141083346	141083346	+	Missense_Mutation	SNP	C	C	T	rs141655851	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:141083346C>T	ENST00000389484.3	-	80	13296	c.12325G>A	c.(12325-12327)Gtc>Atc	p.V4109I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4109					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCTGCTGACAGAGACTACT	0.358000										TSP Lung(27;0.18)			16	38					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71804597	71804597	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:71804597G>A	ENST00000324866.7	+	4	304	c.138G>A	c.(136-138)tcG>tcA	p.S46S	LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000439209.1_Silent_p.S46S|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.S46S|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000541614.1_Silent_p.S46S|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000289488.2_Silent_p.S46S|LRTOMT_ENST00000423494.2_Silent_p.S28S|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000447974.1_Silent_p.S46S|LRTOMT_ENST00000536917.1_Silent_p.S46S|LRTOMT_ENST00000307198.7_5'UTR	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	46						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						GTTCAAAGTCGGGGAAATCAC	0.488000													17	26					0	0	1	0	0
RP11-43F13.1	0	broad.mit.edu	37	5	1632850	1632850	+	RNA	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:1632850C>G	ENST00000507841.1	-	0	276																											ACAATTTGTCCTAATGATTCC	0.478000													3	8					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40584575	40584575	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:40584575A>G	ENST00000260402.3	-	22	2645	c.2396T>C	c.(2395-2397)cTg>cCg	p.L799P	PLCB2_ENST00000557821.1_Missense_Mutation_p.L795P|PLCB2_ENST00000456256.2_Missense_Mutation_p.L799P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	799					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTCATCTCCAGGAAGATGAA	0.597000													11	30					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148711272	148711272	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:148711272C>A	ENST00000367467.3	+	2	634	c.159C>A	c.(157-159)gaC>gaA	p.D53E	SASH1_ENST00000367469.1_Missense_Mutation_p.D8E	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	53							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCTTCAGGACGGTTCACTGG	0.532000													5	181					0.014758	0.0151179	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21936074	21936074	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:21936074G>A	ENST00000542643.2	-	16	1367	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	RAP1GAP_ENST00000374763.2_Silent_p.F355F|RAP1GAP_ENST00000290101.4_Silent_p.F419F|RAP1GAP_ENST00000374761.2_Silent_p.F386F|RAP1GAP_ENST00000374765.4_Silent_p.F355F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	355	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCACCTTCCTGAACACAGCGG	0.612000													60	120					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123786059	123786059	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:123786059G>T	ENST00000334268.4	-	10	1240	c.923C>A	c.(922-924)gCc>gAc	p.A308D	RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000398178.3_Missense_Mutation_p.A308D|RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000546248.1_Missense_Mutation_p.A288D|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA			Q13061	TRDN_HUMAN	triadin	308					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GCCTTCAAGGGCAGGTGATGC	0.408000													4	14					0.00024832	0.000263733	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21494085	21494085	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:21494085G>A	ENST00000377142.4	-	1	579	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	75					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCAGCCAGCGCGTGTACGGG	0.682000													15	27					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85611940	85611940	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:85611940A>C	ENST00000376447.3	-	14	2167	c.1907T>G	c.(1906-1908)gTa>gGa	p.V636G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	636					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AATCATATCTACCCATTCTCG	0.368000													20	58					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993365	144993365	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:144993365G>A	ENST00000322810.4	-	32	11204	c.11035C>T	c.(11035-11037)Cca>Tca	p.P3679S	PLEC_ENST00000354589.3_Missense_Mutation_p.P3542S|PLEC_ENST00000398774.2_Missense_Mutation_p.P3510S|PLEC_ENST00000356346.3_Missense_Mutation_p.P3528S|PLEC_ENST00000345136.3_Missense_Mutation_p.P3542S|PLEC_ENST00000436759.2_Missense_Mutation_p.P3569S|PLEC_ENST00000527096.1_Missense_Mutation_p.P3565S|PLEC_ENST00000357649.2_Missense_Mutation_p.P3546S|PLEC_ENST00000354958.2_Missense_Mutation_p.P3520S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3679	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTTCAGTGGCAGAAGGCGC	0.592000													73	223					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088992	9088992	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9088992G>A	ENST00000397910.4	-	1	3026	c.2823C>T	c.(2821-2823)caC>caT	p.H941H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	941	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGTGAGGTGAGATATTT	0.483000													33	98					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131191357	131191357	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:131191357G>A	ENST00000541194.1	-	6	1493	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	PODXL_ENST00000378555.3_Silent_p.V410V|PODXL_ENST00000322985.9_Silent_p.V378V|PODXL_ENST00000537928.1_Silent_p.V378V	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	410					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGATTTCTTTGACGACCACGG	0.582000											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	137					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325293	158325293	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:158325293G>C	ENST00000444681.2	+	2	555	c.262G>C	c.(262-264)Ggt>Cgt	p.G88R	CD1E_ENST00000368167.3_Missense_Mutation_p.G187R|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G187R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G187R|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G187R|CD1E_ENST00000434258.1_Missense_Mutation_p.G185R|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	187					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAGCCTTCTTGGTCACACCTG	0.527000													14	32					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53171043	53171043	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:53171043A>G	ENST00000332411.2	-	1	86	c.33T>C	c.(31-33)agT>agC	p.S11S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCCTGCCACTGAAGGATT	0.577000													23	66					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068364	89068364	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:89068364C>T	ENST00000286614.6	-	8	1646	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	455	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACCTGTCTCCCTTGAAGAAAT	0.418000													21	47					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268711	21268711	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:21268711T>C	ENST00000602326.1	-	12	1369	c.786A>G	c.(784-786)atA>atG	p.I262M	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I262M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.I267M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I256M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I256M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.I256M|EIF4G3_ENST00000536266.1_De_novo_Start_InFrame	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	256					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTATGGATACTATTGCAGTAG	0.483000													45	123					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40922676	40922676	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:40922676G>T	ENST00000484445.1	+	3	553	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000411995.2_Silent_p.L91L					ZFP69 zinc finger protein B																		GGGGGCAGCTGGCCCCTGCTC	0.512000													16	42					2.31682e-05	2.50087e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9020781	9020781	+	Silent	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9020781T>G	ENST00000397910.4	-	20	37524	c.37321A>C	c.(37321-37323)Aga>Cga	p.R12441R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12443	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTCAGTCTGCAGCCAGAG	0.537000													48	116					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772655	140772655	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140772655G>T	ENST00000398604.2	+	1	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGATCGGGAGGAGCTC	0.532000													23	43					1.22574e-08	1.43003e-08	1	1	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249254	90249254	+	RNA	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:90249254C>G	ENST00000468879.1	+	0	391																											AGCTCTTCATCTATTATGCAT	0.507000													69	379					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209111	140209111	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140209111G>T	ENST00000529310.1	+	1	1549	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A479S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTCTGCGCGAGACGC	0.652000													47	70					3.86236e-30	5.70099e-30	1	1	0
ARID5B	84159	broad.mit.edu	37	10	63852352	63852352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:63852352G>T	ENST00000279873.7	+	10	3540	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E801*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1044					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTCTGGGAAGGAGAAGGCCTC	0.602000													27	98					7.92952e-12	9.71735e-12	1	1	0
LVRN	206338	broad.mit.edu	37	5	115298441	115298441	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:115298441G>C	ENST00000357872.4	+	1	251	c.127G>C	c.(127-129)Gtc>Ctc	p.V43L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		43					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTGCGAGCGCGTCCCACCGTC	0.692000													19	25					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074693	140074693	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:140074693C>G	ENST00000323927.2	-	10	1834	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	610					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTCGGGGACCTCCAGCTTCT	0.612000													18	50					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133253236	133253236	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:133253236G>A	ENST00000320574.5	-	9	848	c.805C>T	c.(805-807)Cct>Tct	p.P269S	POLE_ENST00000535270.1_Missense_Mutation_p.P242S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	269					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAAACCACAGGGTCCTGTGGG	0.498000								DNA polymerases (catalytic subunits)					11	30					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86118444	86118444	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:86118444G>A	ENST00000394518.2	+	6	840	c.745G>A	c.(745-747)Gag>Aag	p.E249K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E249K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	249					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCATCATCGAGAGTTGGACAT	0.433000													39	87					0	0	1	0	0
RP11-43F13.1	0	broad.mit.edu	37	5	1632849	1632849	+	RNA	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:1632849C>A	ENST00000507841.1	-	0	277																											AACAATTTGTCCTAATGATTC	0.478000													3	7					0.115264	0.116017	1	1	0
FEZ2	9637	broad.mit.edu	37	2	36805971	36805971	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:36805971G>C	ENST00000379245.4	-	5	720	c.672C>G	c.(670-672)atC>atG	p.I224M	FEZ2_ENST00000305852.7_Missense_Mutation_p.I53M|FEZ2_ENST00000405912.3_Missense_Mutation_p.I224M	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	224					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTTCTTCCAGGATTTCATTTA	0.398000													15	72					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29090106	29090106	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:29090106C>T	ENST00000544772.1	-	14	2149		c.e14-1		CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2						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						AGGTCCAGAGCTAAAGCAACA	0.448000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					47	127					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46728938	46728938	+	Splice_Site	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:46728938A>T	ENST00000398576.2	-	9	962		c.e9+1		LCP1_ENST00000323076.2_Splice_Site			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)						regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGGAAGACATACCTGAATGGT	0.408000			T	BCL6	NHL								12	26					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619744	37619744	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:37619744C>T	ENST00000337995.3	+	5	2066	c.1851C>T	c.(1849-1851)tgC>tgT	p.C617C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTATGAATGCAGAGAATGTA	0.433000													13	47					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43824947	43824947	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:43824947C>T	ENST00000372462.1	+	1	264	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	CDC20_ENST00000310955.6_Missense_Mutation_p.P21S			Q12834	CDC20_HUMAN	cell division cycle 20	21					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCACCCATCCCCAATGCACC	0.697000													30	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598218	179598218	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179598218C>G	ENST00000589042.1	-	54	16026	c.15802G>C	c.(15802-15804)Gaa>Caa	p.E5268Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4951Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4024Q|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4951	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATCAGTTCTGCTCGCTCA	0.458000													59	157					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029611	49029611	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:49029611A>T	ENST00000376327.5	+	2	307	c.232A>T	c.(232-234)Atc>Ttc	p.I78F	PLP2_ENST00000376322.3_Missense_Mutation_p.I78F	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	78	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GATACCATTCATCAACTGGCC	0.527000													18	16					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886890	2886890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:2886890G>T	ENST00000602557.1	-	52	8364	c.7809C>A	c.(7807-7809)tgC>tgA	p.C2603*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.C2603*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C2602*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C2602*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2603	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGGCCTGGCACCGCAGGA	0.532000													9	28					0.000442599	0.000466851	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248113027	248113027	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248113027A>G	ENST00000357191.3	+	1	868	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCATCTATAGCCTGAGGAA	0.502000													19	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453495	179453495	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179453495G>T	ENST00000589042.1	-	304	63181	c.62957C>A	c.(62956-62958)cCa>cAa	p.P20986Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19345Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11921Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12113Q|TTN_ENST00000359218.5_Missense_Mutation_p.P12046Q|TTN_ENST00000342992.6_Missense_Mutation_p.P18418Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19345	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCAGGTGGATTCCAAAC	0.428000													20	75					1.2644e-06	1.4076e-06	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25770736	25770736	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:25770736A>C	ENST00000428257.1	-	10	1552	c.1445T>G	c.(1444-1446)gTg>gGg	p.V482G	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.V500G|NGLY1_ENST00000280700.5_Missense_Mutation_p.V500G|NGLY1_ENST00000417874.2_Missense_Mutation_p.V458G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	500	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACGATCTTTCACAATATTGTA	0.323000													12	18					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155249306	155249306	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:155249306A>G	ENST00000357232.3	-	12	2591	c.2592T>C	c.(2590-2592)acT>acC	p.T864T	DCHS2_ENST00000339452.1_Silent_p.T1319T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	864	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCAAACACAGTTGTAACCA	0.353000													21	64					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120254774	120254774	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:120254774G>A	ENST00000369409.4	+	1	265	c.129G>A	c.(127-129)gcG>gcA	p.A43A		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	43					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AGCTGATAGCGGAGCTGCAGG	0.582000													3	32					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949577	27949577	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:27949577A>C	ENST00000379992.2	-	6	1542	c.1093T>G	c.(1093-1095)Tgg>Ggg	p.W365G	LINGO2_ENST00000308675.3_Missense_Mutation_p.W365G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	365	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCAAGATCCAGAGAAGGCGG	0.547000													21	38					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96469888	96469888	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:96469888G>C	ENST00000453304.1	-	1	469	c.121C>G	c.(121-123)Caa>Gaa	p.Q41E	UNC5C_ENST00000504962.1_Missense_Mutation_p.Q41E|UNC5C_ENST00000506749.1_Missense_Mutation_p.Q41E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	41					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCCTTACCTTGGGCGGCGGAG	0.642000													13	35					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557856	210557856	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:210557856G>T	ENST00000360351.4	+	7	1468	c.962G>T	c.(961-963)aGc>aTc	p.S321I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S317I|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	321					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGGGGGAAGCTTCACTCTT	0.428000													14	52					4.14922e-12	5.13924e-12	1	1	0
NLRC3	197358	broad.mit.edu	37	16	3614318	3614318	+	RNA	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:3614318G>T	ENST00000301749.7	-	0	1025				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACTGCCACCGCCAGGCTGGG	0.652000													16	12					0.000308642	0.000327047	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173912638	173912638	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:173912638C>G	ENST00000367696.2	-	18	3428	c.3077G>C	c.(3076-3078)aGc>aCc	p.S1026T	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1017T|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1026T			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1026					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGTTCCAAGCTCAACTGCTC	0.547000													47	112					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41980050	41980050	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:41980050G>A	ENST00000216259.7	-	5	471	c.387C>T	c.(385-387)atC>atT	p.I129I	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	129					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCCGGAACTCGATGAAGGTTC	0.597000													17	68					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58373462	58373462	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:58373462A>G	ENST00000435505.2	+	15	1780	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	VRK2_ENST00000440705.2_Silent_p.Q322Q|VRK2_ENST00000412104.2_Silent_p.Q345Q|VRK2_ENST00000340157.4_Silent_p.Q345Q|VRK2_ENST00000417641.2_Silent_p.Q345Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	345						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGATTCACAAAAGGCTGCAA	0.358000													18	41					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632858	143632858	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:143632858C>A	ENST00000408955.2	+	1	600	c.533C>A	c.(532-534)tCc>tAc	p.S178Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GATCACATATCCTGTGAACTC	0.498000													13	58					1.05317e-09	1.25403e-09	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378538	31378538	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:31378538G>T	ENST00000297142.3	-	2	667	c.345C>A	c.(343-345)gaC>gaA	p.D115E		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	115	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTTAAGTTGTCCAGAGCGT	0.473000													29	117					8.58068e-18	1.17286e-17	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5020791	5020791	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:5020791G>A	ENST00000382545.3	+	2	1354	c.247G>A	c.(247-249)Gac>Aac	p.D83N	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)	83					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)	GTACTTCTTCGACCGCAACCG	0.632000													39	78					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	59014613	59014613	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:59014613A>T	ENST00000423743.3	+	32	4736	c.4478A>T	c.(4477-4479)cAg>cTg	p.Q1493L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.Q1461L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.Q1522L|KIAA0586_ENST00000354386.6_Silent_p.A1618A	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1461										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCACAATGCAGGAGGACATG	0.527000													18	58					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877459	96877459	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:96877459A>T	ENST00000394166.3	+	2	1986	c.597A>T	c.(595-597)caA>caT	p.Q199H	NR2F2_ENST00000453270.2_Missense_Mutation_p.Q46H|NR2F2_ENST00000421109.2_Missense_Mutation_p.Q66H|NR2F2_ENST00000394171.2_Missense_Mutation_p.Q46H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	199	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TCGGCAGCCAATGCATGCAGC	0.597000													65	203					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109495876	109495876	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:109495876C>G	ENST00000257548.5	+	3	432	c.339C>G	c.(337-339)caC>caG	p.H113Q	USP30_ENST00000392784.2_Missense_Mutation_p.H82Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	113					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCCCTCACACCAGTATTTAT	0.483000													64	212					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70915202	70915202	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:70915202T>A	ENST00000264436.3	-	9	1346	c.902A>T	c.(901-903)gAg>gTg	p.E301V	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.E301V|ADD2_ENST00000407644.2_Missense_Mutation_p.E301V|ADD2_ENST00000355733.3_Missense_Mutation_p.E301V|ADD2_ENST00000430656.1_Missense_Mutation_p.E317V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	301					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTAAAATGCCTCCTCTACCGT	0.478000													19	45					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73041968	73041968	+	RNA	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:73041968C>A	ENST00000604411.1	+	0	29929				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGGCTGGTACCAATGAGACTG	0.438000													6	11					8.12818e-05	8.71281e-05	1	1	0
CDH5	1003	broad.mit.edu	37	16	66426224	66426224	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:66426224G>A	ENST00000341529.3	+	7	1303	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CDH5_ENST00000563425.2_Silent_p.Q385Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	385	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGAAAACCAGAAGAAGCCTC	0.532000													45	85					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15134052	15134052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:15134052G>T	ENST00000379554.3	+	1	83	c.37G>T	c.(37-39)Gaa>Taa	p.E13*		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602000													19	47					5.3912e-06	5.87438e-06	1	1	0
DLC1	10395	broad.mit.edu	37	8	13259101	13259101	+	Missense_Mutation	SNP	G	G	A	rs144283917		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:13259101G>A	ENST00000276297.4	-	3	1460	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DLC1_ENST00000511869.1_Missense_Mutation_p.R351W|DLC1_ENST00000316609.5_Missense_Mutation_p.R351W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	351					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R351W(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTCCAGCCGCGCCCTATCT	0.448000													30	84					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109042422	109042422	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:109042422G>A	ENST00000261401.3	-	10	1436	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_Silent_p.L422L|CORO1C_ENST00000549772.1_Silent_p.L428L|CORO1C_ENST00000421578.2_Silent_p.L317L|CORO1C_ENST00000420959.2_Silent_p.L475L	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	422					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATGCTGATCAGGTCGCACTTC	0.522000													19	84					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974780	21974780	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:21974780A>C	ENST00000304494.5	-	1	317	c.47T>G	c.(46-48)cTg>cGg	p.L16R	CDKN2A_ENST00000446177.1_Missense_Mutation_p.L16R|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L16R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L16R|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCGTGGCCAGCCAGTCAGC	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	35					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49925023	49925023	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:49925023G>T	ENST00000355854.4	-	5	918	c.421C>A	c.(421-423)Cgt>Agt	p.R141S	CAB39L_ENST00000347776.5_Missense_Mutation_p.R141S|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000409308.1_Missense_Mutation_p.R141S|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141S	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	141					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ATCCCACAACGTAAGGCAATC	0.353000													23	46					1.1804e-14	1.53618e-14	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4792420	4792420	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:4792420C>T	ENST00000269856.3	+	1	693	c.554C>T	c.(553-555)aCg>aTg	p.T185M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	185					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.T185K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AAGGGCAACACGGCCCTGCAT	0.677000													4	24					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45358126	45358126	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:45358126C>T	ENST00000359271.2	+	4	1796	c.1547_splice	c.e4+1	p.R516_splice		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	516						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCAGAAGAGACGGTAGGAAGC	0.527000													14	58					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202406978	202406978	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:202406978A>G	ENST00000406302.3	+	10	1437	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E	PPP1R12B_ENST00000480184.1_Silent_p.E428E|PPP1R12B_ENST00000336894.4_Silent_p.E428E|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	428					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACAAGCCAGAAGAGCCCAAAG	0.413000													18	55					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116049132	116049132	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:116049132C>A	ENST00000603594.1	+	12	2327	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	VWA2_ENST00000392982.3_Missense_Mutation_p.P669H	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	669	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GGCGTGGGGCCTGTCCTAAGT	0.632000													21	51					1.28384e-07	1.45376e-07	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814025	137814025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:137814025G>T	ENST00000409968.1	+	3	353	c.175G>T	c.(175-177)Gga>Tga	p.G59*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.G28*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.G59*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493000													10	44					0.38729	0.38729	1	1	0
TTN	7273	broad.mit.edu	37	2	179429100	179429100	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179429100G>T	ENST00000589042.1	-	326	81983	c.81759C>A	c.(81757-81759)aaC>aaA	p.N27253K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N25612K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18188K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N18380K|TTN_ENST00000359218.5_Missense_Mutation_p.N18313K|TTN_ENST00000342992.6_Missense_Mutation_p.N24685K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25612	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCACTAAAGTTTCCAGCTG	0.378000													21	45					1.01871e-10	1.22564e-10	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7683946	7683946	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:7683946C>T	ENST00000256861.6	-	3	321	c.243G>A	c.(241-243)caG>caA	p.Q81Q	ITIH5_ENST00000397146.2_Silent_p.Q81Q|ITIH5_ENST00000397145.2_Silent_p.Q81Q|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	81	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACTCAATGTCCTGGTCTTCAG	0.468000													27	72					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912279	87912279	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:87912279T>C	ENST00000380079.4	-	3	762	c.661A>G	c.(661-663)Aga>Gga	p.R221G	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R221G	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	221					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATTACGTCTCTTATAACACAA	0.363000													28	65					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90051002	90051002	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:90051002G>T	ENST00000405460.2	+	55	11676	c.11580_splice	c.e55+1	p.P3860_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3860	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTTTGCCGGTAAGTCAAG	0.289000													5	14					0.014758	0.0151179	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49831850	49831850	+	RNA	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:49831850G>T	ENST00000527477.1	+	0	2075																											ATCCCATAAAGCCCTCTTCCT	0.373000													31	112					7.01153e-11	8.45778e-11	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961286	34961286	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:34961286C>A	ENST00000329357.5	+	1	374	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	113										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTACAGCCAGCACGGAAGGCG	0.522000													38	23					2.19358e-23	3.15711e-23	1	1	0
MACC1	346389	broad.mit.edu	37	7	20197937	20197937	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:20197937G>C	ENST00000400331.5	-	5	2355	c.2047C>G	c.(2047-2049)Caa>Gaa	p.Q683E	MACC1_ENST00000332878.4_Missense_Mutation_p.Q683E|MACC1_ENST00000589011.1_Missense_Mutation_p.Q683E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	683					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCTTGAATTTGATCAAAATCT	0.353000													13	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632555	179632555	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179632555G>T	ENST00000589042.1	-	40	9626	c.9402C>A	c.(9400-9402)aaC>aaA	p.N3134K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N3134K|TTN_ENST00000360870.5_Missense_Mutation_p.N3134K|TTN_ENST00000460472.2_Missense_Mutation_p.N3088K|TTN_ENST00000342175.6_Missense_Mutation_p.N3088K|TTN_ENST00000359218.5_Missense_Mutation_p.N3088K|TTN_ENST00000342992.6_Missense_Mutation_p.N3134K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2871	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGACACGTTGCCTCCTG	0.428000													37	89					6.90743e-12	8.50995e-12	1	1	0
NEK11	79858	broad.mit.edu	37	3	130799387	130799387	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130799387T>C	ENST00000383366.4	+	4	584	c.291T>C	c.(289-291)agT>agC	p.S97S	NEK11_ENST00000507910.1_Silent_p.S97S|NEK11_ENST00000356918.4_Silent_p.S97S|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Silent_p.S97S|NEK11_ENST00000508196.1_Silent_p.S97S|NEK11_ENST00000429253.2_Silent_p.S97S|NEK11_ENST00000510769.1_Silent_p.S97S|NEK11_ENST00000511262.1_Silent_p.S97S	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	97	Protein kinase.				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						TCCATGCAAGTTTTGTGGAGC	0.423000													8	26					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532584	76532584	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:76532584G>T	ENST00000307431.8	+	16	2740	c.2355G>T	c.(2353-2355)caG>caT	p.Q785H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q789H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q713H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q737H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	786	Fibrinogen C-terminal.				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						TGCTCTGCCAGGGAGACAGTA	0.398000													4	17					0.184627	0.185028	1	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121669	28121669	+	Silent	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:28121669G>C	ENST00000330236.6	+	6	1795	c.1611G>C	c.(1609-1611)ctG>ctC	p.L537L	ZKSCAN8_ENST00000457389.2_Silent_p.L537L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TTCAACACCTGAGAATTCACA	0.438000													27	81					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921644	130921644	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:130921644T>C	ENST00000261655.4	-	10	1961	c.1798A>G	c.(1798-1800)Aag>Gag	p.K600E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.K508E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.K508E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	600	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTAATGGCTTTGATTGGGGT	0.657000													4	18					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583803	35583803	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:35583803G>A	ENST00000287272.2	+	9	1250	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	UNC5D_ENST00000416672.1_Silent_p.S484S|UNC5D_ENST00000453357.2_Silent_p.S474S|UNC5D_ENST00000420357.1_Silent_p.S412S|UNC5D_ENST00000404895.2_Silent_p.S479S|UNC5D_ENST00000449677.1_Silent_p.S55S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	479					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCTTTGTCGGACATCAAAG	0.522000													15	37					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57816874	57816874	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:57816874A>T	ENST00000281282.5	+	12	3042	c.2964A>T	c.(2962-2964)gaA>gaT	p.E988D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	988						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCTCGCAGAAATGCAAAGAC	0.502000													24	71					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271673	59271673	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:59271673C>A	ENST00000313253.1	+	1	625	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCACTACCCTGTGGTTTAT	0.512000													64	131					1.80625e-27	2.61595e-27	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55653012	55653012	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:55653012G>A	ENST00000449290.2	+	2	200	c.108G>A	c.(106-108)cgG>cgA	p.R36R		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	36						intracellular	zinc ion binding										GCTTTTGCCGGCCCTGTTTGT	0.512000													19	53					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387425	88387425	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:88387425G>T	ENST00000419482.2	+	3	444	c.359G>T	c.(358-360)gGg>gTg	p.G120V	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.G120V	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAAGGCACCGGGCTCACGGAG	0.632000													8	40					0.000157383	0.000167924	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53848882	53848882	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:53848882C>T	ENST00000458035.1	+	3	256	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	ZNF845_ENST00000595091.1_Silent_p.L47L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTGGTCTCCCTGGGTGAGGA	0.483000													43	131					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680781	137680781	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:137680781G>T	ENST00000239906.5	+	4	832	c.404G>T	c.(403-405)cGg>cTg	p.R135L	FAM53C_ENST00000434981.2_Missense_Mutation_p.R135L|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGGTGTGGCGGCCCGCCCCC	0.687000													44	83					1.7489e-18	2.40474e-18	1	1	0
GPR158	57512	broad.mit.edu	37	10	25701259	25701259	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:25701259G>T	ENST00000376351.3	+	4	1551	c.1192G>T	c.(1192-1194)Ggc>Tgc	p.G398C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	398						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G398S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGCAGGGAGGGCTGCCCCTT	0.488000													98	186					1.76565e-42	2.68333e-42	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52376427	52376427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:52376427G>T	ENST00000420592.1	-	6	1972	c.639C>A	c.(637-639)tgC>tgA	p.C213*	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.C272*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.C213*|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	272					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)		CACACACACTGCACCCATAGA	0.478000													19	39					2.35188e-11	2.86694e-11	1	1	0
ACAN	176	broad.mit.edu	37	15	89398451	89398451	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:89398451C>A	ENST00000439576.2	+	12	3009	c.2635C>A	c.(2635-2637)Cac>Aac	p.H879N	ACAN_ENST00000561243.1_Missense_Mutation_p.H879N|ACAN_ENST00000352105.7_Missense_Mutation_p.H879N|ACAN_ENST00000559004.1_Missense_Mutation_p.H879N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	879					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)			TGTTTCAGGACACCTTGACTT	0.612000													8	42					0.000442599	0.000466851	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389263	20389263	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:20389263G>T	ENST00000315915.4	+	1	523	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGAACCTGCCTTTTTGTG	0.438000													78	568					3.30373e-36	4.98799e-36	1	1	0
RELN	5649	broad.mit.edu	37	7	103123389	103123389	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:103123389C>T	ENST00000428762.1	-	63	10370	c.10211G>A	c.(10210-10212)cGc>cAc	p.R3404H	RELN_ENST00000424685.2_Missense_Mutation_p.R3404H|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.R3404H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3404					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)		TTGCCACCAGCGCAGTAAGAC	0.473000													26	73					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55604672	55604672	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:55604672C>A	ENST00000288135.5	+	21	2977	c.2880C>A	c.(2878-2880)gtC>gtA	p.V960V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	960					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAATTCTGTCGGCAGCACCG	0.527000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				31	87					1.39806e-14	1.81433e-14	1	1	0
CCDC37	348807	broad.mit.edu	37	3	126151975	126151975	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:126151975G>C	ENST00000393425.1	+	14	1452	c.1353G>C	c.(1351-1353)gaG>gaC	p.E451D	CCDC37_ENST00000352312.1_Missense_Mutation_p.E450D|CCDC37_ENST00000505024.1_Missense_Mutation_p.E451D			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	450										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCACCAAGGAGGAGGACACAG	0.587000													35	125					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655679	46655679	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:46655679G>T	ENST00000253255.5	-	1	3540	c.3541C>A	c.(3541-3543)Cac>Aac	p.H1181N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1181					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGGTTTTGGTGAAGGCTCTTG	0.473000													53	151					9.22156e-22	1.30686e-21	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73490889	73490889	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:73490889C>A	ENST00000556143.1	-	2	1048	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.G110W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.G110W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	110						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGTTACCCCCAGAATGAGTC	0.493000													86	230					8.78091e-33	1.30864e-32	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007720	6007720	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6007720G>T	ENST00000332249.4	-	1	495	c.441C>A	c.(439-441)ccC>ccA	p.P147P		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGTGCAAGGGGTGACAAA	0.517000													17	23					1.67942e-08	1.94947e-08	1	1	0
PGR	5241	broad.mit.edu	37	11	100920717	100920717	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:100920717G>T	ENST00000325455.5	-	6	3884	c.2431C>A	c.(2431-2433)Ctt>Att	p.L811I	PGR_ENST00000534013.1_Missense_Mutation_p.L217I|PGR_ENST00000263463.5_Missense_Mutation_p.L709I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	811	Steroid-binding.				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)	CTAACTTGAAGCTTGACAAAC	0.368000													11	23					0.0809354	0.0818209	1	1	0
SACS	26278	broad.mit.edu	37	13	23907284	23907284	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:23907284T>C	ENST00000382298.3	-	10	11319	c.10731A>G	c.(10729-10731)acA>acG	p.T3577T	SACS_ENST00000382292.3_Silent_p.T3577T|SACS_ENST00000402364.1_Silent_p.T2827T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3577					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGTCATAAATGTAACATGAT	0.323000													11	15					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186687	50186687	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:50186687G>A	ENST00000335999.6	-	11	3624	c.3423C>T	c.(3421-3423)agC>agT	p.S1141S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1137	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GAAGATTCTTGCTGGGGGTCC	0.662000													7	11					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	9					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606163	68606163	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:68606163G>A	ENST00000423218.2	-	23	2931	c.2836C>T	c.(2836-2838)Ccc>Tcc	p.P946S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P946S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	946					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAGCGTAAGGGGGCCACGTTG	0.642000													10	23					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644505	169644505	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:169644505T>A	ENST00000428432.2	+	6	844	c.455T>A	c.(454-456)tTt>tAt	p.F152Y	SAMD7_ENST00000335556.3_Missense_Mutation_p.F152Y	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	152										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACCTGCATTTTCACAGAAGC	0.597000													55	76					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073847	135073847	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:135073847G>A	ENST00000393229.3	+	3	1484	c.708G>A	c.(706-708)cgG>cgA	p.R236R	NTNG2_ENST00000393228.4_Silent_p.R236R|NTNG2_ENST00000372179.3_Silent_p.R236R|NTNG2_ENST00000360670.3_Silent_p.R236R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCTACACGCGGCTGGAGAGCG	0.667000													37	113					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24769253	24769253	+	Silent	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:24769253C>G	ENST00000267425.3	+	1	186	c.93C>G	c.(91-93)ccC>ccG	p.P31P	NOP9_ENST00000396802.3_Silent_p.P31P	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CGGGGCGCCCCTTACCAGGCC	0.706000													14	27					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032839	30032839	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:30032839C>A	ENST00000328224.6	-	2	2620	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	463						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATCTGCAGGCCTTTGGAGTGC	0.542000													28	70					1.2476e-16	1.67555e-16	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14772149	14772149	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:14772149G>T	ENST00000261170.3	-	24	3007	c.2871C>A	c.(2869-2871)ggC>ggA	p.G957G	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	957					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTTACGGAGGCCAGTGGATT	0.463000													20	57					1.00905e-13	1.28424e-13	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	185					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20572878	20572878	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:20572878C>T	ENST00000399722.2	+	11	1439	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	RBBP8_ENST00000399725.2_Missense_Mutation_p.P363L|RBBP8_ENST00000360790.5_Missense_Mutation_p.P363L|RBBP8_ENST00000327155.5_Missense_Mutation_p.P363L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	363					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAACACTCCCTTTTAGCAAC	0.363000								Homologous recombination					30	71					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625236	56625236	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:56625236C>A	ENST00000266980.4	+	2	471	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	SLC39A5_ENST00000454355.2_Silent_p.R60R	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	60					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTTGGCGCGGCTTCTCCA	0.652000													45	91					1.15505e-17	1.56951e-17	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475424	157475424	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:157475424G>A	ENST00000389413.3	-	12	2010	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A648V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A688V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A665V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A627V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	665						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TACCTGGTAGGCGGCAGTGGC	0.557000													45	124					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540560	95540560	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:95540560C>A	ENST00000295201.4	+	4	890	c.753C>A	c.(751-753)gaC>gaA	p.D251E	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	251					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCACGCAGGACAATCTGTGCC	0.716000													4	12					0.00909568	0.00935903	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370796	240370796	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:240370796C>A	ENST00000319653.9	+	5	2914	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	895	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCAGTACAGCCATTCCCCAA	0.657000													35	76					7.11191e-15	9.28164e-15	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20658908	20658908	+	RNA	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:20658908T>A	ENST00000428453.1	-	0	1958																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCTTTGCCATCCACAAAACA	0.378000													7	83					0	0	1	0	0
MGP	4256	broad.mit.edu	37	12	15035941	15035941	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:15035941G>T	ENST00000539261.1	-	3	269	c.135C>A	c.(133-135)tcC>tcA	p.S45S	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.S70S	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	45					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TCTGCTGAGGGGATATGAAGG	0.393000													10	39					6.42651e-13	8.09005e-13	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884457	39884457	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:39884457A>T	ENST00000341184.6	+	2	1320	c.1105A>T	c.(1105-1107)Atg>Ttg	p.M369L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	369					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CACGGTGGACATGCTGCAGGC	0.632000													37	110					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893318	72893318	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:72893318T>A	ENST00000261180.4	+	6	1586	c.1490T>A	c.(1489-1491)aTg>aAg	p.M497K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	497					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGAAGTGATGCTGCTGGAC	0.453000													22	57					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505236	24505236	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:24505236T>C	ENST00000264463.4	-	8	1885	c.1378A>G	c.(1378-1380)Att>Gtt	p.I460V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	460	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCAGCAGCAATAACAGTAAGA	0.289000										HNSCC(23;0.051)			26	37					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200935	101200935	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:101200935T>A	ENST00000341267.4	+	5	1096	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	285					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CACCGCATCCTGAAGGTGTCC	0.657000													19	83					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1720074	1720074	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:1720074G>T	ENST00000313871.3	+	5	1871	c.1675G>T	c.(1675-1677)Ggc>Tgc	p.G559C		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	559					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACAGCCCAAGGGCATCCCTGC	0.647000													23	66					2.41591e-17	3.25408e-17	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177249566	177249566	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:177249566G>T	ENST00000361539.4	+	8	1566	c.1254G>T	c.(1252-1254)tgG>tgT	p.W418C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		418						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTACTGGTGGAACCGAATCC	0.507000													24	85					1.17739e-12	1.47015e-12	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72991476	72991476	+	Missense_Mutation	SNP	C	C	A	rs146607776		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:72991476C>A	ENST00000268489.5	-	2	3241	c.2569G>T	c.(2569-2571)Gcc>Tcc	p.A857S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	857					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)				TCGGCCTCGGCGGGTGAGGGC	0.577000													32	77					2.23313e-29	3.27525e-29	1	1	0
MRPL38	64978	broad.mit.edu	37	17	73900765	73900765	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:73900765T>A	ENST00000309352.3	-	2	640	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	MRPL38_ENST00000585475.1_Intron|MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.12_ENST00000587556.1_3'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	35						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTTGGGCATCGGCCCCAGC	0.726000													3	10					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69685162	69685162	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:69685162G>T	ENST00000370598.1	+	10	2485	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	555					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGTCTTCATGGAGTGGCCTTC	0.468000													22	45					1.96895e-08	2.26846e-08	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129559166	129559166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:129559166C>A	ENST00000422113.2	-	9	2880	c.2554G>T	c.(2554-2556)Gga>Tga	p.G852*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.G390*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	852						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)		GTGCCCCGTCCCTCCATGAGT	0.532000													23	64					2.39556e-15	3.17121e-15	1	1	0
ZNF724P	440519	broad.mit.edu	37	19	23406349	23406349	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:23406349A>T	ENST00000418100.1	-	4	815	c.698T>A	c.(697-699)aTa>aAa	p.I233K																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTTAAAGGCTATGCCACATTC	0.373000													5	10					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123047504	123047504	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:123047504C>A	ENST00000462833.1	-	6	3004	c.1792G>T	c.(1792-1794)Ggc>Tgc	p.G598C	ADCY5_ENST00000309879.5_Missense_Mutation_p.G248C|ADCY5_ENST00000491190.1_Missense_Mutation_p.G231C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	598					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCTTGCCGCCAGCCTCCATG	0.627000											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	119					2.48696e-23	3.56824e-23	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54141939	54141939	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:54141939C>A	ENST00000265572.3	-	4	1358	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	OPRK1_ENST00000520287.1_Missense_Mutation_p.R354L|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R265L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	354					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGTGCTCTGCCGCTCCATCCT	0.483000													19	48					1.45105e-14	1.86737e-14	1	1	0
EPYC	1833	broad.mit.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:91358040G>T	ENST00000261172.3	-	7	954	c.862C>A	c.(862-864)Cgt>Agt	p.R288S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363000													31	41					2.61193e-14	3.35198e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152277874	152277874	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:152277874C>G	ENST00000368799.1	-	3	9523	c.9488G>C	c.(9487-9489)aGa>aCa	p.R3163T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3163	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTGTTGTTCTGCTTGCACT	0.542000									Ichthyosis				136	352					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048036	9048036	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9048036C>T	ENST00000397910.4	-	5	33798	c.33595G>A	c.(33595-33597)Gct>Act	p.A11199T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11201	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGAGACAGCTAAAGTTGGA	0.453000													14	26					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24366278	24366278	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:24366278C>T	ENST00000005284.3	+	3	1622	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	140					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	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCGCGGGCATCTTTTTTGTCT	0.577000													21	49					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508202	14508202	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:14508202G>A	ENST00000344204.4	+	57	8989	c.8965G>A	c.(8965-8967)Gtg>Atg	p.V2989M	TRIO_ENST00000537187.1_Missense_Mutation_p.V2813M|TRIO_ENST00000344135.5_Missense_Mutation_p.V488M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2989	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTAGTGGCGTGTCCCCCTT	0.522000													23	90					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122433171	122433171	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:122433171A>T	ENST00000474629.2	+	12	4161	c.3895A>T	c.(3895-3897)Att>Ttt	p.I1299F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1299	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAATATCATTCATGTAAT	0.383000													12	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8971730	8971730	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:8971730C>A	ENST00000397910.4	-	78	43065	c.42862G>T	c.(42862-42864)Gcc>Tcc	p.A14288S	MUC16_ENST00000380951.5_Missense_Mutation_p.A929S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14360	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGAGGCATTCAGGGTC	0.532000													10	29					0.000673444	0.000703917	1	1	0
USH1G	124590	broad.mit.edu	37	17	72916366	72916366	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:72916366G>A	ENST00000319642.1	-	2	747	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	189					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCAGCCGGCGGCTCAGG	0.682000													20	56					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64421183	64421183	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:64421183C>A	ENST00000265459.6	-	12	2862	c.2401G>T	c.(2401-2403)Gtc>Ttc	p.V801F	NRXN2_ENST00000377551.1_Missense_Mutation_p.V801F|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Missense_Mutation_p.V794F	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	801	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCGCAGCCGACGCGCAGGCAG	0.577000													6	9					0.0381472	0.0386492	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762041	130762041	+	Silent	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:130762041A>T	ENST00000392429.1	+	2	2852	c.474A>T	c.(472-474)atA>atT	p.I158I	TMEM200A_ENST00000296978.3_Silent_p.I158I|TMEM200A_ENST00000545622.1_Silent_p.I158I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	158						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAAAATCATACACATGAGGG	0.408000													27	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440030	179440030	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179440030C>T	ENST00000589042.1	-	326	71053	c.70829G>A	c.(70828-70830)aGc>aAc	p.S23610N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21969N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S14545N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14737N|TTN_ENST00000359218.5_Missense_Mutation_p.S14670N|TTN_ENST00000342992.6_Missense_Mutation_p.S21042N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21969	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCCCGCGCTGTTCACTGC	0.507000													11	44					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476077	65476077	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:65476077G>T	ENST00000519389.1	+	17	3142	c.2963G>T	c.(2962-2964)tGg>tTg	p.W988L	HEPH_ENST00000336279.5_Missense_Mutation_p.W667L|HEPH_ENST00000441993.2_Missense_Mutation_p.W937L|HEPH_ENST00000419594.1_Missense_Mutation_p.W745L|HEPH_ENST00000374727.3_Missense_Mutation_p.W937L|HEPH_ENST00000343002.2_Missense_Mutation_p.W934L			Q9BQS7	HEPH_HUMAN	hephaestin	934	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AATAAGTCTTGGTATTTGGAG	0.453000													26	35					1.17739e-12	1.47015e-12	1	1	0
GPR6	2830	broad.mit.edu	37	6	110300952	110300952	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:110300952C>A	ENST00000414000.2	+	3	921	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	GPR6_ENST00000275169.3_Missense_Mutation_p.R213S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	213						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCTGGCAGAGCGCGCCGCCTG	0.697000													6	16					3.59834e-05	3.86612e-05	1	1	0
NDNF	79625	broad.mit.edu	37	4	121958675	121958675	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:121958675G>C	ENST00000379692.4	-	4	977	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	151										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTGTTGAAAGAAGATCCAAC	0.403000													40	79					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551754	27551754	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:27551754C>G	ENST00000359541.2	-	15	2513	c.2084G>C	c.(2083-2085)gGt>gCt	p.G695A	GTF3C2_ENST00000264720.3_Missense_Mutation_p.G695A			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	695						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTGAAACCAAGGTAACC	0.393000													25	20					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121961083	121961083	+	Splice_Site	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:121961083A>T	ENST00000379692.4	-	3	840		c.e3+1			NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor											breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCTGCTGCTTACCTGAGCCTT	0.507000													7	47					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21550667	21550667	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:21550667G>A	ENST00000222584.3	+	6	2353	c.2135G>A	c.(2134-2136)tGt>tAt	p.C712Y		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	712					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCCCGGAATGTTCTAAAAGG	0.373000													10	52					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162761309	162761309	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:162761309A>G	ENST00000375514.5	+	14	1871	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	SLC4A10_ENST00000272716.5_Silent_p.G517G|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.G547G|SLC4A10_ENST00000421911.1_Silent_p.G547G|SLC4A10_ENST00000415876.2_Silent_p.G517G	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	547					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTCTTTGGAGCATCCATGA	0.398000													30	91					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602300	14602300	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:14602300G>A	ENST00000274217.3	+	5	477	c.357G>A	c.(355-357)gaG>gaA	p.E119E		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	119										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AGGCTTATGAGGAGCTATTTT	0.363000													8	10					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83776146	83776146	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:83776146T>C	ENST00000432794.1	-	17	2081	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	SEC31A_ENST00000508479.1_Missense_Mutation_p.I640V|SEC31A_ENST00000509142.1_Missense_Mutation_p.I640V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I640V|SEC31A_ENST00000505984.1_Missense_Mutation_p.I601V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I640V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I601V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I640V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I635V|SEC31A_ENST00000395310.2_Missense_Mutation_p.I640V|SEC31A_ENST00000355196.2_Missense_Mutation_p.I640V|SEC31A_ENST00000326950.5_Missense_Mutation_p.I601V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I640V|SEC31A_ENST00000348405.4_Missense_Mutation_p.I601V|SEC31A_ENST00000264405.5_Missense_Mutation_p.I373V|SEC31A_ENST00000513858.1_Missense_Mutation_p.I601V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	640					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GACTCAACAATCTCTTTCCAG	0.363000													12	29					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036915	75036915	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:75036915C>A	ENST00000326665.5	-	14	4697	c.4479G>T	c.(4477-4479)gcG>gcT	p.A1493A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGTTGCCATCGCCTGTAGAC	0.522000													59	183					5.82218e-30	8.56639e-30	1	1	0
ADCY9	115	broad.mit.edu	37	16	4164621	4164621	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:4164621C>T	ENST00000294016.3	-	2	1361	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	275					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCAGGGCCCCGGCTCCGGGC	0.627000													35	26					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157626	26157626	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:26157626C>T	ENST00000325250.1	+	2	711	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	175	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACTACTATGCCTTTTTCAGC	0.448000													6	6					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266225	89266225	+	RNA	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:89266225C>G	ENST00000464162.1	-	0	61																											GCAGCAGGAGCCCCAGGAGCT	0.562000													44	292					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130744048	130744048	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130744048G>C	ENST00000264992.3	-	3	544	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	ASTE1_ENST00000514044.1_Missense_Mutation_p.L35V	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	35					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CGGTGGAAAAGAGCATAACCA	0.393000													50	171					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475724	29475724	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:29475724G>A	ENST00000373795.4	-	6	917	c.683C>T	c.(682-684)tCc>tTc	p.S228F	SRSF4_ENST00000546138.1_Silent_p.L126L|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	228	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						cTTGCTCCGGGAGCGGGAGCC	0.562000													33	67					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30214306	30214306	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:30214306A>G	ENST00000261708.4	-	8	707	c.570T>C	c.(568-570)gcT>gcC	p.A190A	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	190					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCAGTTTTTCAGCATGCATCA	0.343000													3	38					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36876399	36876399	+	Splice_Site	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:36876399C>A	ENST00000429976.2	-	20	5633		c.e20-1		TRANK1_ENST00000428977.2_Splice_Site|TRANK1_ENST00000301807.6_Splice_Site			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1						DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATCTCTTATCTAGGATGGAG	0.348000													9	13					3.09899e-07	3.47508e-07	1	1	0
HIATL1	84641	broad.mit.edu	37	9	97218571	97218571	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:97218571C>A	ENST00000375344.3	+	10	1347	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	360					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CATCACGTTTCCGGCAATCAG	0.577000													19	45					2.98393e-07	3.3542e-07	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607188	84607188	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:84607188C>A	ENST00000344803.2	+	4	1850	c.1803C>A	c.(1801-1803)atC>atA	p.I601I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGATTAGGATCTGTGGAGTGT	0.498000													26	79					7.92952e-12	9.71735e-12	1	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													4	170					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46271390	46271390	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:46271390G>A	ENST00000317578.6	-	1	1094	c.713C>T	c.(712-714)aCc>aTc	p.T238I	SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	238						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)		CGACAGGCCGGTGAGTGTGGC	0.711000													12	28					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99152363	99152363	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:99152363C>T	ENST00000401707.2	+	10	1501	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	POP1_ENST00000349693.3_Missense_Mutation_p.P474S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	474					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGTAAGAAACCTGACAGCGT	0.488000													9	24					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584501	138584501	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:138584501G>T	ENST00000251691.4	+	12	2047	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	627	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGTCCGACGTGTCAGACATTG	0.542000													50	186					7.34454e-26	1.06037e-25	1	1	0
PARD3	56288	broad.mit.edu	37	10	34739281	34739281	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:34739281G>A	ENST00000374789.3	-	5	1003	c.678C>T	c.(676-678)caC>caT	p.H226H	PARD3_ENST00000545693.1_Silent_p.H226H|PARD3_ENST00000346874.4_Silent_p.H226H|PARD3_ENST00000374773.1_Silent_p.H226H|PARD3_ENST00000374788.3_Silent_p.H226H|PARD3_ENST00000374776.1_Silent_p.H226H|PARD3_ENST00000350537.4_Silent_p.H226H|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000340077.5_Silent_p.H226H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	226					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACCATTGGGTGACTGGCAC	0.463000													28	51					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121719573	121719573	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:121719573C>A	ENST00000264808.3	-	10	1277	c.1037G>T	c.(1036-1038)cGa>cTa	p.R346L	PRDM5_ENST00000428209.2_Missense_Mutation_p.R315L|PRDM5_ENST00000515109.1_Missense_Mutation_p.R315L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	346					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTATAGGGTCGTTTTTCTAT	0.333000													10	42					0.00136819	0.00142366	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768622	57768622	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:57768622C>A	ENST00000371030.2	+	1	2548	c.2548C>A	c.(2548-2550)Cct>Act	p.P850T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	850						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCACGCAGCCTGCCTCTTT	0.637000													25	57					2.79863e-10	3.35836e-10	1	1	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399973	13399973	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:13399973C>T	ENST00000284110.1	-	2	1559	c.762G>A	c.(760-762)acG>acA	p.T254T	HS3ST3A1_ENST00000578576.1_Silent_p.T52T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	254						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACAGCGTCTGCGTGTAGTCCG	0.647000													22	50					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985774	50985774	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:50985774G>C	ENST00000442544.2	+	24	4181	c.3565G>C	c.(3565-3567)Gtc>Ctc	p.V1189L	DCC_ENST00000581580.1_Missense_Mutation_p.V824L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1189					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCACACCAGTCAGCCACAG	0.458000													39	46					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222322667	222322667	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:222322667T>C	ENST00000281821.2	-	6	1403	c.1362A>G	c.(1360-1362)agA>agG	p.R454R	EPHA4_ENST00000409938.1_Silent_p.R454R|EPHA4_ENST00000392071.4_Silent_p.R403R|EPHA4_ENST00000409854.1_Silent_p.R454R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	454	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCACACTGTATCTTGTGACTT	0.388000													24	66					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666137	131666137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:131666137C>T	ENST00000368648.3	-	9	866	c.794G>A	c.(793-795)tGg>tAg	p.W265*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.W274*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCCGTGGTCCAGCCTTCACT	0.587000													24	65					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242276	87242276	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:87242276A>G	ENST00000297524.3	-	1	334	c.231T>C	c.(229-231)agT>agC	p.S77S	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.S77S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	77						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTGAGCTCCACTGCATGGGA	0.493000													26	50					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42635316	42635316	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:42635316C>T	ENST00000318010.8	+	19	2433	c.2193C>T	c.(2191-2193)gcC>gcT	p.A731A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	731					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACCAAAAGCCACCACAGTTG	0.368000													10	38					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:106926482T>C	ENST00000434710.1	-	0	139																											CCAGCTGCACTTCACACTGGA	0.527000													4	181					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466801	164466801	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:164466801C>A	ENST00000333129.3	-	3	1855	c.1541G>T	c.(1540-1542)gGa>gTa	p.G514V	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	514						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGCCGTCAGTCCACTGAACGC	0.527000													27	61					3.1745e-13	4.01813e-13	1	1	0
SLC30A10	55532	broad.mit.edu	37	1	220101747	220101747	+	Silent	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:220101747G>C	ENST00000366926.3	-	1	197	c.36C>G	c.(34-36)ctC>ctG	p.L12L	SLC30A10_ENST00000536992.1_Silent_p.L12L|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	12					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCAGCATGAAGAGCAGCCGGC	0.701000													13	28					0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618395	89618395	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:89618395C>G	ENST00000323061.5	-	1	991	c.511G>C	c.(511-513)Gat>Cat	p.D171H	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	171					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GCGTGGGCATCGTCATGTTTG	0.587000													50	167					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101944494	101944494	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:101944494G>C	ENST00000536178.1	+	2	834	c.789G>C	c.(787-789)aaG>aaC	p.K263N	SH2B2_ENST00000306803.8_Missense_Mutation_p.K220N			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	220	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AGTGGCAGAAGTGCCGCCTGC	0.677000													6	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237433881	237433881	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:237433881A>G	ENST00000366574.2	+	2	450	c.133A>G	c.(133-135)Aga>Gga	p.R45G	RYR2_ENST00000360064.6_Silent_p.T42T|RYR2_ENST00000542537.1_Missense_Mutation_p.R29G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	45					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)			ATTTGGCAACAGACTTTGTTT	0.433000													8	12					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348845	57348845	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:57348845C>T	ENST00000398138.3	-	2	1273	c.417G>A	c.(415-417)ttG>ttA	p.L139L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	139					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAATCACCCCCAACAAGTTCA	0.572000													20	66					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454740	84454740	+	Silent	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:84454740T>A	ENST00000377084.2	-	1	1788	c.903A>T	c.(901-903)ccA>ccT	p.P301P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	301						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCAGACCCTGGTGTGGCAT	0.557000													29	24					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93528731	93528731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:93528731C>T	ENST00000394196.4	+	26	4309	c.3241C>T	c.(3241-3243)Cag>Tag	p.Q1081*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1081*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1081					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTCTCAGGCTCAGACAAATGA	0.453000													14	31					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17145223	17145223	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:17145223G>A	ENST00000377833.4	-	13	1496	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	477	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCCTGAGAGGGACTCTCCAC	0.438000													14	51					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040215	239040215	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:239040215G>T	ENST00000343063.3	+	9	3123	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S	ESPNL_ENST00000409506.1_Missense_Mutation_p.A586S|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.A910S	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	954										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGCCTCACGCCGCCGTCCC	0.682000													13	37					7.03913e-09	8.275e-09	1	1	0
ZNF761	388561	broad.mit.edu	37	19	53960313	53960313	+	RNA	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:53960313G>T	ENST00000454407.1	+	0	3005							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)		AATTCACACTGGAGAGAAACC	0.428000													12	30					5.50884e-06	5.98843e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179579026	179579026	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179579026G>T	ENST00000589042.1	-	91	26699	c.26475C>A	c.(26473-26475)tcC>tcA	p.S8825S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8508S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7581S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8508	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S7581S(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)			AACCGAGAACGGATAGCGTGG	0.398000													25	82					3.73808e-20	5.23332e-20	1	1	0
PSG8	440533	broad.mit.edu	37	19	43268377	43268377	+	Missense_Mutation	SNP	G	G	T	rs150588080	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:43268377G>T	ENST00000404209.4	-	2	217	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	PSG8_ENST00000306511.4_Missense_Mutation_p.Q41K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q41K|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	41	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTGGTTGGCTGGGCTTCAATC	0.468000													77	185					1.03218e-28	1.49959e-28	1	1	0
FAT1	2195	broad.mit.edu	37	4	187540161	187540161	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:187540161C>T	ENST00000441802.2	-	10	7788	c.7579G>A	c.(7579-7581)Gtt>Att	p.V2527I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2527	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.V2530F(1)|p.V2527F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTAAGTAACGTGACCATAA	0.408000										HNSCC(5;0.00058)			59	122					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795403	142795403	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:142795403G>A	ENST00000370498.1	-	2	1028	c.275C>T	c.(274-276)gCt>gTt	p.A92V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	92										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCTTCAGCTGAGTCTAG	0.498000													139	128					0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493542	62493542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:62493542C>T	ENST00000369916.3	+	1	977	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	217							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						GCCCTTCCCTCAGCACGACGC	0.682000													12	38					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805398	146805398	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:146805398C>T	ENST00000361727.3	+	5	1226	c.710C>T	c.(709-711)aCc>aTc	p.T237I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	237	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATTACATTACCTTGGAACTG	0.403000										HNSCC(39;0.1)			8	29					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876806	148876806	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:148876806G>T	ENST00000420008.2	+	6	2117	c.1329G>T	c.(1327-1329)ggG>ggT	p.G443G	ZNF398_ENST00000335901.4_Silent_p.G443G|ZNF398_ENST00000540950.1_Silent_p.G619G|ZNF398_ENST00000426851.2_Silent_p.G443G|ZNF398_ENST00000491174.1_Silent_p.G443G|ZNF398_ENST00000475153.1_Silent_p.G614G|ZNF398_ENST00000483892.1_Silent_p.G443G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	614					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCATAACTGGGCTTGAAACTT	0.552000													11	46					1.58986e-06	1.76567e-06	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123900458	123900458	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123900458C>T	ENST00000431524.1	+	1	162	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTCCTCATCCTGCTGGTGA	0.572000													44	112					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198671622	198671622	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:198671622A>G	ENST00000367376.2	+	6	711	c.540A>G	c.(538-540)gcA>gcG	p.A180A	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000442510.2_Silent_p.A182A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	180					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTACCTGCACGCACCTCCA	0.502000													10	259					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133785942	133785942	+	Silent	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:133785942T>G	ENST00000367895.5	+	10	1214	c.750T>G	c.(748-750)acT>acG	p.T250T	EYA4_ENST00000452339.2_Silent_p.T196T|EYA4_ENST00000355167.3_Silent_p.T250T|EYA4_ENST00000431403.2_Silent_p.T250T|EYA4_ENST00000430974.2_Silent_p.T196T|EYA4_ENST00000355286.6_Silent_p.T227T|EYA4_ENST00000531901.1_Silent_p.T250T|EYA4_ENST00000525849.1_Silent_p.T227T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	250					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATCATCTACTATTTATGCAA	0.284000													6	21					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054178	2054178	+	Missense_Mutation	SNP	G	G	A	rs140995511		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:2054178G>A	ENST00000262113.4	+	22	3022	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V386M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	961	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATCGAAACCGTGGGGGATCA	0.448000													28	84					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117863	104117863	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:104117863G>T	ENST00000361355.4	+	8	1513	c.897G>T	c.(895-897)tgG>tgT	p.W299C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	299					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAGAAGGTTGGGGTTTCATGC	0.418000													104	531					3.92893e-35	5.91259e-35	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62849144	62849144	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:62849144T>C	ENST00000512091.1	+	18	3602	c.2855T>C	c.(2854-2856)tTg>tCg	p.L952S	LPHN3_ENST00000508693.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000507625.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000507164.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000545650.1_Missense_Mutation_p.L952S|LPHN3_ENST00000514157.1_Missense_Mutation_p.L952S|LPHN3_ENST00000506720.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000506700.1_Missense_Mutation_p.L952S|LPHN3_ENST00000511324.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000514591.1_Missense_Mutation_p.L952S|LPHN3_ENST00000508946.1_Missense_Mutation_p.L952S|LPHN3_ENST00000514996.1_Missense_Mutation_p.L952S|LPHN3_ENST00000509896.1_Missense_Mutation_p.L1020S|LPHN3_ENST00000504896.1_Missense_Mutation_p.L952S|LPHN3_ENST00000506746.1_Missense_Mutation_p.L1020S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	939					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTTCTTCTTGGCTGCCTTC	0.433000													19	57					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088549	57088549	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:57088549C>A	ENST00000330619.8	+	6	1438	c.752C>A	c.(751-753)aCa>aAa	p.T251K	ZNF470_ENST00000391709.3_Missense_Mutation_p.T251K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGAATTCATACAGGAGAGAAA	0.388000													33	75					7.6516e-34	1.14774e-33	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004699	52004699	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:52004699C>A	ENST00000291707.3	-	1	344	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	97	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.G97R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGGTCCCCAAGGAGGTGG	0.537000													52	148					1.59911e-31	2.37553e-31	1	1	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168227285	168227285	+	RNA	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:168227285C>T	ENST00000359760.5	-	0	104					NR_027906.1																						CACCACCCATCGGACCCAGCA	0.672000													17	47					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40922677	40922677	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:40922677G>T	ENST00000411995.2	+	4	649	c.274G>T	c.(274-276)Gcc>Tcc	p.A92S	ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Missense_Mutation_p.G63V	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GGGGCAGCTGGCCCCTGCTCA	0.517000													16	42					2.23348e-06	2.4627e-06	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18793370	18793370	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:18793370C>T	ENST00000433979.1	+	31	4183	c.4067C>T	c.(4066-4068)cCa>cTa	p.P1356L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1397L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P1356L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1356	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCATCTCCCAGATGGCTCT	0.388000													5	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439997	179439997	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179439997G>A	ENST00000589042.1	-	326	71086	c.70862C>T	c.(70861-70863)cCc>cTc	p.P23621L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21980L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14556L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14748L|TTN_ENST00000359218.5_Missense_Mutation_p.P14681L|TTN_ENST00000342992.6_Missense_Mutation_p.P21053L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21980	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAATGACGGGTCTGCTTTC	0.478000													11	39					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307065	162307065	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:162307065C>A	ENST00000306100.5	-	16	2814	c.2378G>T	c.(2377-2379)tGg>tTg	p.W793L	FSTL5_ENST00000536695.1_Missense_Mutation_p.W792L|FSTL5_ENST00000379164.4_Missense_Mutation_p.W792L|FSTL5_ENST00000427802.2_Missense_Mutation_p.W783L|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	793						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTTCCGGTTCCAAGGCCATTC	0.468000													39	127					6.48837e-15	8.54024e-15	1	1	0
ATP9B	374868	broad.mit.edu	37	18	77107889	77107889	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:77107889C>T	ENST00000426216.2	+	24	2819	c.2802C>T	c.(2800-2802)ttC>ttT	p.F934F	ATP9B_ENST00000543761.1_Silent_p.F255F|ATP9B_ENST00000307671.7_Silent_p.F934F	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	934					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCGGCCAGTTCGTCATGCACA	0.627000													22	37					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422589	64422589	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:64422589G>T	ENST00000262043.3	+	16	5445	c.5105G>T	c.(5104-5106)tGt>tTt	p.C1702F	PHF3_ENST00000393387.1_Missense_Mutation_p.C1702F			Q92576	PHF3_HUMAN	PHD finger protein 3	1702					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAAAGTTGTGTTCTGCAGAG	0.413000													12	66					2.27111e-07	2.55915e-07	1	1	0
CARD10	29775	broad.mit.edu	37	22	37891531	37891531	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:37891531C>A	ENST00000403299.1	-	16	2582	c.2366G>T	c.(2365-2367)cGc>cTc	p.R789L	CARD10_ENST00000251973.5_Missense_Mutation_p.R789L|CARD10_ENST00000406271.3_Missense_Mutation_p.R503L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	789					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACATTACTGCGGGGGCCTCG	0.607000													5	18					0.000602214	0.000630891	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12443077	12443077	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:12443077G>T	ENST00000358136.3	+	58	11363	c.11233G>T	c.(11233-11235)Gtt>Ttt	p.V3745F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.V3720F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3744					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTGAAGTTGTTCTTGGTCC	0.423000													55	111					6.77423e-14	8.66951e-14	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940345	144940345	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:144940345C>T	ENST00000525985.1	-	2	7148	c.7077G>A	c.(7075-7077)gtG>gtA	p.V2359V				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCACGTCCACGGGCACGC	0.692000													26	518					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													4	100					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948700	38948700	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:38948700C>A	ENST00000216024.2	-	7	668	c.392G>T	c.(391-393)gGa>gTa	p.G131V	DMC1_ENST00000428462.2_Missense_Mutation_p.G131V	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	131					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTGGGTTTTTCCAGTACGAAA	0.289000								Homologous recombination					5	36					0.000602214	0.000630891	1	1	0
SERINC5	256987	broad.mit.edu	37	5	79462247	79462247	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:79462247T>G	ENST00000507668.2	-	7	968	c.818A>C	c.(817-819)tAc>tCc	p.Y273S	SERINC5_ENST00000512972.2_Missense_Mutation_p.Y273S|SERINC5_ENST00000512721.1_Missense_Mutation_p.Y273S|SERINC5_ENST00000509193.1_Missense_Mutation_p.Y273S	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	273					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GAAGGTGAGGTAGGTGACATA	0.463000													3	6					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50599845	50599845	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:50599845G>C	ENST00000341247.4	-	5	786	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G	LIMA1_ENST00000552823.1_Missense_Mutation_p.R53G|LIMA1_ENST00000394943.3_Missense_Mutation_p.R213G|LIMA1_ENST00000552909.1_Missense_Mutation_p.R53G|LIMA1_ENST00000552783.1_Missense_Mutation_p.R53G|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	213					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTTTGGGCCCGGAGAATCTGG	0.428000													10	37					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67150133	67150133	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:67150133G>T	ENST00000269081.4	-	33	4713	c.3804C>A	c.(3802-3804)agC>agA	p.S1268R	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1268	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGATGCTCTGCTGCCTTGTA	0.468000													35	89					4.62619e-21	6.51616e-21	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103798	53103798	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:53103798A>T	ENST00000408890.4	+	1	450	c.434A>T	c.(433-435)gAg>gTg	p.E145V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	145										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCCCCCTGAGCGTCAGGAG	0.711000													10	37					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190882995	190882995	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:190882995C>A	ENST00000226798.4	+	8	870	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	216					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGAGCTTCCAAGACCACA	0.294000													50	151					6.18754e-15	8.16756e-15	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072303	134072303	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:134072303C>A	ENST00000264360.4	+	1	1834	c.1008C>A	c.(1006-1008)aaC>aaA	p.N336K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGCCCCAACGCCGTGCCTG	0.597000													37	113					2.05212e-20	2.8817e-20	1	1	0
FASTKD1	79675	broad.mit.edu	37	2	170403042	170403042	+	Nonsense_Mutation	SNP	G	G	A	rs148253352	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:170403042G>A	ENST00000453153.2	-	8	1733	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.Q463*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	463					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGATCATGCTGAATCCATCTT	0.398000													20	56					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112064025	112064025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:112064025C>G	ENST00000315711.8	+	3	368	c.311C>G	c.(310-312)tCa>tGa	p.S104*	CD200_ENST00000473539.1_Nonsense_Mutation_p.S129*|CD200_ENST00000383681.3_Nonsense_Mutation_p.S30*	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	104	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTCCAAAACTCAACCATCACC	0.493000													20	75					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188216	142188216	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:142188216G>A	ENST00000350721.4	-	38	6636	c.6515C>T	c.(6514-6516)cCt>cTt	p.P2172L	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.P2108L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2172	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCTTGTTGAGGATAGGCTAG	0.328000								Other conserved DNA damage response genes					15	90					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504927	125504927	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:125504927G>T	ENST00000431078.1	+	14	2560	c.2196G>T	c.(2194-2196)caG>caT	p.Q732H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	732	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACATTCAGCACTTTTGCA	0.493000													37	108					1.07121e-22	1.53219e-22	1	1	0
CDH18	1016	broad.mit.edu	37	5	19473641	19473641	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:19473641C>T	ENST00000507958.1	-	15	3057	c.2067G>A	c.(2065-2067)agG>agA	p.R689R	CDH18_ENST00000382275.1_Silent_p.R689R|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Silent_p.R689R			Q13634	CAD18_HUMAN	cadherin 18, type 2	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCTGATATCCCTCCGGTACT	0.493000													36	82					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442151	129442151	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:129442151A>G	ENST00000442111.2	+	11	930	c.842A>G	c.(841-843)aAg>aGg	p.K281R	GLT1D1_ENST00000281703.6_Missense_Mutation_p.K201R|GLT1D1_ENST00000537468.1_Missense_Mutation_p.K286R|GLT1D1_ENST00000542193.1_Missense_Mutation_p.K198R			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	281					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCCGTGGTGAAGCATGAAGTC	0.468000													12	25					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587449	55587449	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:55587449T>C	ENST00000333976.4	+	1	364	c.344T>C	c.(343-345)tTa>tCa	p.L115S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAATCCTTTTTATTAGCTGTG	0.438000													59	158					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131100965	131100965	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:131100965G>T	ENST00000359850.3	+	2	254	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	NUDT16_ENST00000502852.1_Missense_Mutation_p.G72W|NUDT16_ENST00000537561.1_Missense_Mutation_p.G26W|NUDT16_ENST00000521288.1_Missense_Mutation_p.G72W	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	72	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						CCTAGAGGACGGGCTGAACCG	0.687000													33	85					7.11191e-15	9.28164e-15	1	1	0
MYH8	4626	broad.mit.edu	37	17	10299732	10299732	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:10299732C>T	ENST00000403437.2	-	33	4662	c.4568G>A	c.(4567-4569)gGa>gAa	p.G1523E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1523					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATTTGCTTTCCTCCCTCTGC	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	14					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63904629	63904629	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:63904629C>G	ENST00000443617.2	-	77	14308	c.14221G>C	c.(14221-14223)Gtg>Ctg	p.V4741L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4741	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACCGCACCACTTTCTTCAAG	0.552000													33	62					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311131	84311131	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:84311131G>A	ENST00000428679.2	-	16	1776	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P393S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P395S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P395S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P395S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P395S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.P395S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	395	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTTCAGAGGGAACAGAGGAA	0.448000													12	30					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988621	134988621	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:134988621C>T	ENST00000535938.1	+	7	814	c.647C>T	c.(646-648)cCa>cTa	p.P216L	SAGE1_ENST00000370709.3_Missense_Mutation_p.P216L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P216L|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	216										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGTCCAACCAGCACCTGAT	0.443000													36	119					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64864433	64864433	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:64864433C>G	ENST00000328747.7	+	4	1605	c.1406C>G	c.(1405-1407)aCt>aGt	p.T469S	ZNF92_ENST00000450302.2_Missense_Mutation_p.T400S|ZNF92_ENST00000431504.1_Missense_Mutation_p.T393S|ZNF92_ENST00000357512.2_Missense_Mutation_p.T437S	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	469						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TCAACCCTTACTAAACATAAA	0.323000													11	43					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588528	20588528	+	RNA	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:20588528T>C	ENST00000428453.1	-	0	4222																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCTCAAGCTTTGAGAGTTTG	0.498000													12	45					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141906560	141906560	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:141906560T>C	ENST00000392993.2	-	6	756	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	GK5_ENST00000544571.1_Missense_Mutation_p.Y202C	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	202					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TGTGAGCTTATATAACAACCA	0.328000													18	47					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72159756	72159756	+	RNA	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:72159756C>A	ENST00000438125.1	-	0	1040							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTTCTTCAGGCTGTCTTTGGT	0.393000													22	52					4.26978e-12	5.27443e-12	1	1	0
GLP1R	2740	broad.mit.edu	37	6	39046126	39046126	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:39046126G>T	ENST00000373256.4	+	8	895	c.852G>T	c.(850-852)tgG>tgT	p.W284C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	284					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTGTCCCCTGGGGCATTGTCA	0.602000													19	66					8.10497e-08	9.24567e-08	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39587436	39587436	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:39587436G>C	ENST00000265707.5	+	20	2242	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	ADAM18_ENST00000379866.1_Missense_Mutation_p.E709Q|ADAM18_ENST00000541111.1_Missense_Mutation_p.E147Q|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	733					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGTTGTATCAGAAAGCGATGA	0.323000													19	65					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16068441	16068441	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:16068441G>A	ENST00000268712.3	-	5	727	c.470C>T	c.(469-471)tCc>tTc	p.S157F	NCOR1_ENST00000395848.1_Missense_Mutation_p.S48F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S157F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	157	Interaction with ZBTB33 and HEXIM1.				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)		AATTGGAGAGGATGGAGCTTC	0.393000													8	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419652	179419652	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179419652C>G	ENST00000589042.1	-	331	88758	c.88534G>C	c.(88534-88536)Gaa>Caa	p.E29512Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27871Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20447Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20639Q|TTN_ENST00000359218.5_Missense_Mutation_p.E20572Q|TTN_ENST00000342992.6_Missense_Mutation_p.E26944Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27871	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTTAATTCATAGCATCCA	0.433000													18	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCTTCCACTCGGATAAGATG	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	31					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001737	145001737	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:145001737C>A	ENST00000322810.4	-	27	4177	c.4008G>T	c.(4006-4008)caG>caT	p.Q1336H	PLEC_ENST00000354589.3_Missense_Mutation_p.Q1199H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1167H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1185H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q1199H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1226H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1222H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1203H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1177H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1336	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGAGCTCGCGCTGCCGCACGT	0.726000													5	19					0.184627	0.185028	1	1	0
BID	637	broad.mit.edu	37	22	18222145	18222145	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:18222145C>A	ENST00000317361.7	-	4	797	c.471G>T	c.(469-471)ctG>ctT	p.L157L	BID_ENST00000399767.1_Silent_p.L15L|BID_ENST00000342111.5_3'UTR|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Silent_p.L15L|BID_ENST00000399774.3_Silent_p.L111L|BID_ENST00000551952.1_Silent_p.L111L	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	111					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCCTGAGCTGCAGGGCCAGGC	0.662000													5	17					0.000602214	0.000630891	1	1	0
GH2	2689	broad.mit.edu	37	17	61958452	61958452	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:61958452G>A	ENST00000332800.7	-	3	361	c.228C>T	c.(226-228)acC>acT	p.T76T	GH2_ENST00000456543.2_Silent_p.T76T|GH2_ENST00000423893.2_Silent_p.T76T|GH2_ENST00000449787.2_Silent_p.T61T	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	76						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGCAGAGGGAGGTCTGGGGGT	0.532000													101	277					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92300836	92300836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:92300836C>T	ENST00000265734.4	-	5	962	c.551G>A	c.(550-552)tGg>tAg	p.W184*	CDK6_ENST00000424848.2_Nonsense_Mutation_p.W184*	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	184	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCTCTGTACCACAGCGTGAC	0.502000			T	MLLT10	ALL								16	57					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300652	110300652	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:110300652A>T	ENST00000414000.2	+	3	621	c.382A>T	c.(382-384)Agc>Tgc	p.S128C	GPR6_ENST00000275169.3_Missense_Mutation_p.S113C			P46095	GPR6_HUMAN	G protein-coupled receptor 6	113						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCTGGTAGGCAGCCTGGCCAC	0.642000													43	127					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130188086	130188086	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130188086T>G	ENST00000265379.6	+	38	7732	c.7238T>G	c.(7237-7239)aTa>aGa	p.I2413R	COL6A5_ENST00000432398.2_Missense_Mutation_p.I2413R			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2413	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATCTTTGTAATATCTGCTGGC	0.413000													26	36					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160710981	160710981	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:160710981G>T	ENST00000263636.4	-	18	2512	c.2485C>A	c.(2485-2487)Ctt>Att	p.L829I	LY75_ENST00000554112.1_Missense_Mutation_p.L829I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L829I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L829I|LY75_ENST00000553424.1_Missense_Mutation_p.L829I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTAGGTGAAGATCAGCAACA	0.378000													19	45					1.33834e-09	1.58949e-09	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23866365	23866365	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:23866365C>G	ENST00000269142.5	+	7	2490	c.1492C>G	c.(1492-1494)Cct>Gct	p.P498A	TAF4B_ENST00000578121.1_Missense_Mutation_p.P498A|TAF4B_ENST00000400466.2_Missense_Mutation_p.P498A	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	498					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATCTGACAAGCCTGTTATTGG	0.488000													29	51					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420534	65420534	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:65420534G>T	ENST00000519389.1	+	12	2358	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	HEPH_ENST00000336279.5_Missense_Mutation_p.G406C|HEPH_ENST00000441993.2_Missense_Mutation_p.G676C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.G676C|HEPH_ENST00000343002.2_Missense_Mutation_p.G673C			Q9BQS7	HEPH_HUMAN	hephaestin	673					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGAGGAAGGGTGCAGCTAT	0.557000													9	8					1.76689e-08	2.04588e-08	1	1	0
EFNA3	1944	broad.mit.edu	37	1	155057634	155057634	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:155057634T>G	ENST00000368408.3	+	2	266	c.196T>G	c.(196-198)Tac>Gac	p.Y66D	EFNA3_ENST00000418360.2_Missense_Mutation_p.Y66D|EFNA3_ENST00000556931.1_Missense_Mutation_p.Y61D|EFNA3_ENST00000505139.1_Missense_Mutation_p.Y61D	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	66					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCCGCACTACAACAGCTC	0.652000													21	66					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869564	86869564	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:86869564G>A	ENST00000373119.4	+	3	863	c.718G>A	c.(718-720)Gct>Act	p.A240T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A240T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	240	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGTGCAGTATGCTTACACAGG	0.348000													17	5					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72541663	72541663	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:72541663C>A	ENST00000299290.1	-	4	560	c.171G>T	c.(169-171)agG>agT	p.R57S	TBATA_ENST00000456372.2_Missense_Mutation_p.R57S|TBATA_ENST00000545575.1_Missense_Mutation_p.R47S	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GCTTTGGGGTCCTCAATGCCC	0.622000													45	90					6.4771e-29	9.43981e-29	1	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706800	33706800	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:33706800T>C	ENST00000269187.5	-	2	384	c.171A>G	c.(169-171)ctA>ctG	p.L57L	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.L57L	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	57						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAAGCTGTTGTAGATGATATT	0.373000													25	38					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134338072	134338072	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:134338072G>T	ENST00000508956.1	-	7	622	c.565C>A	c.(565-567)Caa>Aaa	p.Q189K	KY_ENST00000503669.1_Missense_Mutation_p.Q210K|KY_ENST00000423778.2_Missense_Mutation_p.Q210K|KY_ENST00000508041.1_5'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	210						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGAAGGCTTGGCGGTCCTTC	0.557000													37	87					6.97489e-18	9.56201e-18	1	1	0
NOVA2	4858	broad.mit.edu	37	19	46444058	46444058	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:46444058G>A	ENST00000263257.5	-	4	736	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	181	KH 2.					nucleus	RNA binding	p.T181M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCGCTGACCGTCACCACGCG	0.632000													8	27					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42574326	42574326	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:42574326G>A	ENST00000372901.1	+	7	1059		c.e7-1		UBR2_ENST00000372903.2_Splice_Site|UBR2_ENST00000372899.1_Splice_Site			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATCTTTACAGGGGCGTAGGT	0.264000													15	51					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41585479	41585479	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:41585479C>T	ENST00000396942.1	-	4	357	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ANK1_ENST00000379758.2_Missense_Mutation_p.E92K|ANK1_ENST00000352337.4_Missense_Mutation_p.E92K|ANK1_ENST00000265709.8_Missense_Mutation_p.E125K|ANK1_ENST00000347528.4_Missense_Mutation_p.E92K|ANK1_ENST00000396945.1_Missense_Mutation_p.E92K|ANK1_ENST00000289734.7_Missense_Mutation_p.E92K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	92	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGACCACCTCATCCTGCCCG	0.602000													24	68					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122692938	122692938	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:122692938C>A	ENST00000464942.2	-	5	1944	c.551G>T	c.(550-552)cGt>cTt	p.R184L	B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000267169.6_Missense_Mutation_p.R184L|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.R193L|DIABLO_ENST00000443649.3_Missense_Mutation_p.R237L|DIABLO_ENST00000413918.1_Missense_Mutation_p.R193L|RP11-512M8.5_ENST00000535844.1_3'UTR	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	237					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAATCCTCACGCAGGTAGGC	0.607000													20	56					1.00905e-13	1.28424e-13	1	1	0
RNLS	55328	broad.mit.edu	37	10	90122434	90122434	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:90122434G>T	ENST00000371947.3	-	5	1914	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RNLS_ENST00000331772.4_Missense_Mutation_p.S192Y|RNLS_ENST00000437752.1_Missense_Mutation_p.S109Y|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	192						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCATATCGAGAGGAGTAGCT	0.448000													18	39					1.45105e-14	1.86737e-14	1	1	0
TMEM72	643236	broad.mit.edu	37	10	45429211	45429211	+	Translation_Start_Site	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:45429211C>A	ENST00000544540.1	+	0	466				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TGGTCTGGCACGTGACCATCC	0.607000													14	29					7.93312e-07	8.8529e-07	1	1	0
RP1	6101	broad.mit.edu	37	8	55534123	55534123	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:55534123C>T	ENST00000220676.1	+	2	745	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAGCTGTACGCTACGGACG	0.577000													54	132					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3627403	3627403	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:3627403G>A	ENST00000325418.4	+	1	193	c.174G>A	c.(172-174)tcG>tcA	p.S58S	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	58					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GCGACCCCTCGCAGTCCGACG	0.751000													7	7					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519828	111519828	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:111519828G>A	ENST00000261486.5	-	18	1783	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	503						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCTCCTGCCGTATTCTGAAA	0.433000													28	43					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51111689	51111689	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:51111689G>A	ENST00000324679.4	-	3	942	c.579C>T	c.(577-579)aaC>aaT	p.N193N		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	193					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CAGAACCATGGTTAGTCAAAT	0.378000													16	55					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796512	100796512	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:100796512G>C	ENST00000323346.5	+	8	1355	c.1042G>C	c.(1042-1044)Gca>Cca	p.A348P	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	348					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTTTGGATTTGCAATAAGTAA	0.333000													8	29					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78899188	78899188	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:78899188G>T	ENST00000306801.3	+	24	3189	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y	RPTOR_ENST00000544334.2_Missense_Mutation_p.D785Y|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	943					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGACGCGGACGATGCTGCTGG	0.577000													12	33					1.41608e-15	1.89083e-15	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247607419	247607419	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:247607419C>A	ENST00000366497.2	+	7	3424	c.2644C>A	c.(2644-2646)Ccc>Acc	p.P882T	NLRP3_ENST00000348069.2_Missense_Mutation_p.P825T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P882T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P939T|NLRP3_ENST00000336119.3_Missense_Mutation_p.P939T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P882T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	939					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTCTTGCACCCCGACTGCAA	0.522000													26	64					1.04121e-07	1.18483e-07	1	1	0
LEPR	3953	broad.mit.edu	37	1	66102514	66102514	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:66102514C>A	ENST00000349533.6	+	20	3499	c.3314C>A	c.(3313-3315)cCa>cAa	p.P1105Q	LEPR_ENST00000406510.3_Missense_Mutation_p.P172Q	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1105					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGCCCATTCCCAGCCCCCTGT	0.398000													18	40					1.45105e-14	1.86737e-14	1	1	0
OAS3	4940	broad.mit.edu	37	12	113384761	113384761	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:113384761T>C	ENST00000228928.7	+	4	1029	c.850T>C	c.(850-852)Ttg>Ctg	p.L284L	OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	284	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGGCAGTTCTTGCAGCGGCA	0.557000													12	22					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2265108	2265108	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:2265108C>A	ENST00000406869.1	-	4	785	c.228G>T	c.(226-228)ctG>ctT	p.L76L	MAD1L1_ENST00000265854.7_Silent_p.L76L|MAD1L1_ENST00000399654.2_Silent_p.L76L|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	76					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGTGACTCAGCTCCATCT	0.612000													28	80					4.22769e-11	5.1265e-11	1	1	0
ANKRD49	54851	broad.mit.edu	37	11	94231288	94231288	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:94231288A>G	ENST00000544612.1	+	3	807	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	ANKRD49_ENST00000302755.4_Missense_Mutation_p.R104G|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	104					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGTGAACACTAGGGATGAAGA	0.448000													22	48					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856065	130856065	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:130856065C>G	ENST00000245255.3	+	21	2780	c.2508C>G	c.(2506-2508)caC>caG	p.H836Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	836	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGTACGCCCACAAGCTGGCTT	0.463000													45	109					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108057265	108057265	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:108057265C>T	ENST00000278612.8	-	8	775	c.670G>A	c.(670-672)Ggc>Agc	p.G224S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	224	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.G224S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GAATGAGGGCCAGACAAAGTG	0.323000													12	48					0	0	1	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106473961	106473961	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:106473961C>A	ENST00000420470.2	+	1	183	c.39C>A	c.(37-39)gtC>gtA	p.V13V	ARHGEF38_ENST00000265154.2_Silent_p.V13V	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	13					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AAAACATGGTCACCAAGAAAA	0.488000													15	47					3.52763e-06	3.862e-06	1	1	0
NCAN	1463	broad.mit.edu	37	19	19349079	19349079	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:19349079C>A	ENST00000252575.5	+	11	3311	c.3268C>A	c.(3268-3270)Cgc>Agc	p.R1090S	NCAN_ENST00000538881.1_Missense_Mutation_p.R541S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1090	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCTGTGACCGCGGCTGGCA	0.657000													30	71					1.22384e-17	1.6581e-17	1	1	0
SH3GLB1	51100	broad.mit.edu	37	1	87208083	87208083	+	Silent	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:87208083A>C	ENST00000370558.4	+	8	1278	c.954A>C	c.(952-954)gcA>gcC	p.A318A	SH3GLB1_ENST00000482504.1_Silent_p.A339A|SH3GLB1_ENST00000535010.1_Silent_p.A218A	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	318	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ATTATGATGCAGCAAACAGTA	0.413000													20	45					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278214	89278214	+	RNA	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:89278214G>A	ENST00000390247.2	-	0	217																											CTGCAGGAGAGGGTGACTCTT	0.512000													71	157					0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8890005	8890005	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:8890005C>A	ENST00000333050.6	-	2	479	c.446G>T	c.(445-447)gGc>gTc	p.G149V	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	149						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGCCGCCAGCCCCAGAAGTT	0.542000													24	72					2.21704e-12	2.75341e-12	1	1	0
RXRA	6256	broad.mit.edu	37	9	137293688	137293688	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:137293688C>A	ENST00000481739.1	+	2	291	c.239C>A	c.(238-240)cCc>cAc	p.P80H	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	80	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ATGTCGGTGCCCACCACACCC	0.687000													20	71					7.88262e-20	1.10023e-19	1	1	0
OOSP2	219990	broad.mit.edu	37	11	59814417	59814417	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:59814417G>A	ENST00000278855.2	+	4	533	c.347_splice	c.e4-1	p.R116_splice		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		116						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TTTTCTTTAGGAAATCAGTGT	0.363000													38	119					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216262432	216262432	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:216262432C>T	ENST00000366943.2	-	23	5194	c.4808G>A	c.(4807-4809)aGt>aAt	p.S1603N	USH2A_ENST00000307340.3_Missense_Mutation_p.S1603N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1603	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTCCATCACTATATTGTTT	0.333000										HNSCC(13;0.011)			27	74					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55603243	55603243	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55603243A>T	ENST00000263433.3	-	20	2210	c.2195T>A	c.(2194-2196)cTg>cAg	p.L732Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.L657Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.L669Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	732						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTCCAGTTCCAGGAGGGCTGG	0.602000													47	143					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33750057	33750057	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:33750057A>G	ENST00000358232.6	+	20	2171	c.2108A>G	c.(2107-2109)gAt>gGt	p.D703G	ELP2_ENST00000350494.6_Missense_Mutation_p.D698G|ELP2_ENST00000542824.1_Missense_Mutation_p.D633G|ELP2_ENST00000423854.2_Missense_Mutation_p.D633G|ELP2_ENST00000351393.6_Missense_Mutation_p.D677G|ELP2_ENST00000442325.2_Missense_Mutation_p.D768G	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	703					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GACTCCACTGATGACTGTATT	0.527000													23	34					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372582	180372582	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:180372582G>T	ENST00000273654.4	-	13	1769	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N	CCDC39_ENST00000442201.2_Missense_Mutation_p.H300N			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	300					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTAGTTTCATGGTCCTGATAT	0.348000													12	24					0.0167234	0.0170934	1	1	0
ZP4	57829	broad.mit.edu	37	1	238050152	238050152	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:238050152G>A	ENST00000366570.4	-	6	916	c.758C>T	c.(757-759)gCa>gTa	p.A253V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	253	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTCATATACTGCTCGGTCTCC	0.468000													23	92					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77835401	77835401	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:77835401G>A	ENST00000407578.2	-	12	2023	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S548L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S548L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.S548*(2)|p.S586*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTGTCCAACTGAGAAGTGTAC	0.428000													16	35					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616519	179616519	+	Silent	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:179616519A>G	ENST00000360870.5	-	46	10830	c.10608T>C	c.(10606-10608)acT>acC	p.T3536T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3535	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGAAACCAAGTCATTTCTG	0.393000													23	66					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604042	106604042	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:106604042T>G	ENST00000451321.2	-	7	1716	c.1237A>C	c.(1237-1239)Agt>Cgt	p.S413R	INTS12_ENST00000394735.1_Missense_Mutation_p.S413R|INTS12_ENST00000340139.5_Missense_Mutation_p.S413R	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	413	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTACTTCCACTAGGTCCTGAT	0.453000													46	119					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65482681	65482681	+	Silent	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:65482681A>C	ENST00000260641.5	+	6	745	c.588A>C	c.(586-588)ctA>ctC	p.L196L	ACTR2_ENST00000542850.1_Silent_p.L141L|ACTR2_ENST00000377982.4_Silent_p.L201L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	196					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGTACCAGCTACTTCTGTTGC	0.358000													24	70					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34061217	34061217	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr20:34061217G>T	ENST00000397527.1	+	13	1948	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	CEP250_ENST00000342580.4_Missense_Mutation_p.A410S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	410					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCAGCTTGCAGGCTGTCA	0.547000													13	34					4.36969e-10	5.21653e-10	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65207915	65207915	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:65207915G>C	ENST00000247226.7	+	14	1820	c.1512G>C	c.(1510-1512)atG>atC	p.M504I	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.M93I|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.M560I|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.M65I	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	560					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGTGACATGGTGGACTTCG	0.607000													46	122					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422631	156422631	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:156422631G>T	ENST00000461166.1	+	6	2273	c.1685G>T	c.(1684-1686)gGc>gTc	p.G562V	TIPARP_ENST00000542783.1_Missense_Mutation_p.G562V|TIPARP_ENST00000486483.1_Missense_Mutation_p.G562V|TIPARP_ENST00000295924.7_Missense_Mutation_p.G562V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	562	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTGGACAAGGCAGTTATTTT	0.438000													45	219					1.48734e-19	2.06973e-19	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668584	176668584	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:176668584A>T	ENST00000367662.3	+	8	4259	c.3095A>T	c.(3094-3096)gAt>gTt	p.D1032V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1032					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATAGAGATTGATGCAGCACTC	0.537000													38	103					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540472	40540472	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:40540472C>A	ENST00000434248.1	-	5	2359	c.2294G>T	c.(2293-2295)gGc>gTc	p.G765V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G617V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGTTTGAGCCACGATTAAA	0.433000													32	71					9.04072e-19	1.24681e-18	1	1	0
CYP2U1	113612	broad.mit.edu	37	4	108868684	108868684	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:108868684G>A	ENST00000332884.6	+	3	1554	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	CYP2U1_ENST00000508453.1_Missense_Mutation_p.E218K|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	427					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TATGACCTCAGAGAACACAGG	0.552000													15	36					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26911769	26911769	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:26911769G>A	ENST00000381527.3	+	2	697	c.194G>A	c.(193-195)aGa>aAa	p.R65K	CDK8_ENST00000536792.1_Missense_Mutation_p.R65K	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	65	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TCGGCATGTAGAGAAATAGCA	0.289000													27	49					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94084605	94084605	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:94084605T>A	ENST00000553484.1	+	30	4512	c.4358T>A	c.(4357-4359)cTc>cAc	p.L1453H	UNC79_ENST00000256339.4_Missense_Mutation_p.L1254H|UNC79_ENST00000555664.1_Missense_Mutation_p.L1431H|UNC79_ENST00000393151.2_Missense_Mutation_p.L1431H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1431						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCAATACACTCAATGCGCAG	0.428000													12	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765160	141765160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:141765160C>T	ENST00000475668.2	+	38	4564	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R1504*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1504	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACGGGACAGCGAGGGGTCGT	0.602000													6	13					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749278	51749278	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:51749278G>T	ENST00000395052.3	+	4	1723	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	497					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCCCTGCCCGCCTCTCGCTG	0.637000													10	17					2.17888e-05	2.35747e-05	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904886	144904886	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:144904886G>T	ENST00000370490.1	+	1	5198	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	SLITRK2_ENST00000447897.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V315L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V315L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	315						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AACTCCTCGAGTGACTGTGTC	0.552000													25	30					1.96895e-08	2.26846e-08	1	1	0
TMEM225	338661	broad.mit.edu	37	11	123756006	123756006	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123756006C>T	ENST00000375026.2	-	1	343	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	43						integral to membrane		p.A43T(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCATCTTGGCTCTTTCATCT	0.463000													30	69					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27099981	27099981	+	Silent	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:27099981C>A	ENST00000350889.4	-	3	155	c.42G>T	c.(40-42)ccG>ccT	p.P14P	STMN4_ENST00000522908.1_Silent_p.P14P|STMN4_ENST00000519614.1_Silent_p.P14P|STMN4_ENST00000519997.1_Silent_p.P5P|STMN4_ENST00000523048.1_Silent_p.P14P|STMN4_ENST00000265770.7_Silent_p.P14P	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	14					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		AGGACACCAGCGGGAGCTCCT	0.567000													12	53					1.52009e-12	1.89294e-12	1	1	0
APOL1	8542	broad.mit.edu	37	22	36661941	36661941	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:36661941G>T	ENST00000319136.4	+	7	1374	c.1107G>T	c.(1105-1107)gtG>gtT	p.V369V	APOL1_ENST00000397278.3_Silent_p.V353V|APOL1_ENST00000347595.7_Silent_p.V232V|APOL1_ENST00000397279.4_Silent_p.V353V|APOL1_ENST00000422706.1_Silent_p.V353V|APOL1_ENST00000426053.1_Silent_p.V335V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	353					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCTACCTCGTGTACGAATCAA	0.502000													17	52					1.67942e-08	1.94947e-08	1	1	0
KIF11	3832	broad.mit.edu	37	10	94369264	94369264	+	Silent	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:94369264T>C	ENST00000260731.3	+	6	786	c.696T>C	c.(694-696)tcT>tcC	p.S232S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	232	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCATACTCTAGGTAAGAAA	0.408000													93	257					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198953652	198953652	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:198953652C>A	ENST00000428675.1	+	3	3184	c.2786C>A	c.(2785-2787)aCt>aAt	p.T929N	PLCL1_ENST00000437704.2_Missense_Mutation_p.T831N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	929					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCTGTTAACTCTGTCATCT	0.458000													140	400					1.21703e-59	1.85567e-59	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196671535	196671535	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:196671535G>A	ENST00000312428.6	-	54	10205	c.10105C>T	c.(10105-10107)Cct>Tct	p.P3369S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3369					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTCTTCAGGGAAAACCTCA	0.338000													9	33					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502700	64502700	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:64502700C>T	ENST00000377494.1	-	11	2219		c.e11-1		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAACACAGACTGGGGCACGC	0.567000													16	41					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152763213	152763213	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:152763213G>C	ENST00000367255.5	-	31	4606	c.4005C>G	c.(4003-4005)atC>atG	p.I1335M	SYNE1_ENST00000413186.2_Missense_Mutation_p.I1335M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1342M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1335M|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1335M|SYNE1_ENST00000367248.3_Missense_Mutation_p.I1325M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1342M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I1401M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1335					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)		CTCCTACCTGGATGCGGCGTT	0.617000										HNSCC(10;0.0054)			31	93					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103041641	103041641	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:103041641G>A	ENST00000418604.1	+	4	719	c.439G>A	c.(439-441)Gga>Aga	p.G147R	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000303958.2_Missense_Mutation_p.G147R	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	147			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AAAATGGCTAGGACATCCCGA	0.562000													75	55					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610669	83610669	+	Silent	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:83610669A>T	ENST00000265362.3	-	14	1934	c.1620T>A	c.(1618-1620)tcT>tcA	p.S540S	SEMA3A_ENST00000436949.1_Silent_p.S540S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	540					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAGAACATGCAGAACCATCCC	0.448000													4	37					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132307219	132307219	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:132307219C>T	ENST00000331898.7	-	4	1139	c.561G>A	c.(559-561)ctG>ctA	p.L187L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.L187L|OPCML_ENST00000374778.4_Silent_p.L146L|OPCML_ENST00000524381.1_Silent_p.L180L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	187	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGAGATCTCCAGGTACTCAT	0.498000													11	34					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539822	94539822	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:94539822G>T	ENST00000289495.5	+	1	613	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G133C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G133C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G133C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	133	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATGTACGATGGCCCTTCATA	0.403000										HNSCC(28;0.073)			30	85					2.08457e-15	2.76744e-15	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259969	90259969	+	RNA	SNP	C	C	A	rs112036184		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:90259969C>A	ENST00000471857.1	+	0	253																											GATGTGTCATCTGGATGACCC	0.443000													56	210					1.0442e-30	1.54622e-30	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8239283	8239283	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:8239283C>G	ENST00000539824.1	+	17	3785	c.3411C>G	c.(3409-3411)caC>caG	p.H1137Q	SH3TC1_ENST00000245105.3_Missense_Mutation_p.H1213Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1213							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGGCAGAGCACTTCTACCTCA	0.642000													11	18					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196973962	196973962	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:196973962C>T	ENST00000367414.5	+	9	1630	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P501L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	501	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCAGAACCACCAAGATGCCTA	0.373000													14	68					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173912667	173912667	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:173912667C>G	ENST00000367696.2	-	18	3399	c.3048G>C	c.(3046-3048)tgG>tgC	p.W1016C	RC3H1_ENST00000367694.2_Missense_Mutation_p.W1007C|RC3H1_ENST00000258349.4_Missense_Mutation_p.W1016C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1016					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCATCCCAGGCCATTTTGGAG	0.547000													39	86					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													4	28					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94544242	94544242	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:94544242T>A	ENST00000370225.3	-	10	1346	c.1260A>T	c.(1258-1260)gaA>gaT	p.E420D	ABCA4_ENST00000535735.1_Missense_Mutation_p.E420D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	420					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)		CGTGTTCCAGTTCTTCAAAAG	0.443000													50	118					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071009	70071009	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:70071009T>G	ENST00000370598.1	+	29	4665	c.3844T>G	c.(3844-3846)Tac>Gac	p.Y1282D	BAI3_ENST00000238918.8_Missense_Mutation_p.Y488D|BAI3_ENST00000546190.1_Missense_Mutation_p.Y246D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1282					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAACTGTGTACTTATGTAC	0.413000													24	44					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072314	17072314	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr22:17072314A>G	ENST00000359963.3	-	1	1386	c.1127T>C	c.(1126-1128)gTt>gCt	p.V376A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	376					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCCCTGAGAACCACAGTGAG	0.567000													37	66					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155305	71155305	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:71155305G>T	ENST00000283228.2	-	4	1025	c.573C>A	c.(571-573)atC>atA	p.I191I	PTPRR_ENST00000342084.4_Silent_p.I79I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	191					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAAAACATTGATATTAAGTG	0.368000													40	106					5.04308e-16	6.75334e-16	1	1	0
OR52N2	390077	broad.mit.edu	37	11	5842439	5842439	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:5842439C>A	ENST00000317037.2	+	1	896	c.874C>A	c.(874-876)Cca>Aca	p.P292T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCATGAACCCAATTGTTTA	0.378000													36	84					9.17885e-22	1.30481e-21	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129470220	129470220	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:129470220C>A	ENST00000421865.2	+	7	1055	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	336	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAACTTTTCTAACTAAAAC	0.393000													15	51					7.93312e-07	8.8529e-07	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123598283	123598283	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:123598283C>A	ENST00000336139.4	-	7	1215	c.853G>T	c.(853-855)Gat>Tat	p.D285Y	ZNF202_ENST00000529691.1_Missense_Mutation_p.D285Y|ZNF202_ENST00000530393.1_Missense_Mutation_p.D285Y			O95125	ZN202_HUMAN	zinc finger protein 202	285	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GAGATCTCATCAGGTCTGGGG	0.473000													20	46					7.41877e-09	8.69917e-09	1	1	0
NEK11	79858	broad.mit.edu	37	3	130799395	130799395	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:130799395A>C	ENST00000383366.4	+	4	592	c.299A>C	c.(298-300)gAg>gCg	p.E100A	NEK11_ENST00000507910.1_Missense_Mutation_p.E100A|NEK11_ENST00000356918.4_Missense_Mutation_p.E100A|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Missense_Mutation_p.E100A|NEK11_ENST00000508196.1_Missense_Mutation_p.E100A|NEK11_ENST00000429253.2_Missense_Mutation_p.E100A|NEK11_ENST00000510769.1_Missense_Mutation_p.E100A|NEK11_ENST00000511262.1_Missense_Mutation_p.E100A	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	100	Protein kinase.				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						AGTTTTGTGGAGCAAGATAAT	0.423000													8	24					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964938	9964938	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:9964938T>C	ENST00000264833.4	-	6	1474	c.1289A>G	c.(1288-1290)tAt>tGt	p.Y430C	OLFM2_ENST00000590841.1_Missense_Mutation_p.Y352C	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	430	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTCCAGGTATAGAGGGCGCG	0.572000													28	84					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871031	170871031	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:170871031G>A	ENST00000392092.2	+	3	486	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TBP_ENST00000540980.1_Silent_p.Q49Q|TBP_ENST00000230354.6_Silent_p.Q69Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	69	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcaac	0.572000													7	89					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246766	55246766	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55246766C>T	ENST00000291860.1	+	6	1014	c.996C>T	c.(994-996)atC>atT	p.I332I	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	332						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGTGGTCATCATCCCCTTTG	0.483000													28	55					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124524633	124524633	+	Silent	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:124524633G>A	ENST00000263593.3	-	4	634	c.462C>T	c.(460-462)atC>atT	p.I154I	SIAE_ENST00000545756.1_Silent_p.I119I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	154						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)		AGACAGAGAGGATGCGGACAG	0.483000													38	96					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16504767	16504767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:16504767G>C	ENST00000455140.2	-	18	2027	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*	EPS15L1_ENST00000594975.1_Nonsense_Mutation_p.S656*|EPS15L1_ENST00000535753.2_Nonsense_Mutation_p.S654*|EPS15L1_ENST00000248070.6_Nonsense_Mutation_p.S654*	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	654	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTACCTGTTGAAGTTGTCTG	0.537000													27	71					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772200	4772200	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:4772200C>T	ENST00000378191.4	+	2	651	c.270C>T	c.(268-270)caC>caT	p.H90H	AJAP1_ENST00000378190.3_Silent_p.H90H|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	90					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGCGGATCCACGGGCAGATGC	0.756000													3	6					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935513	30935513	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:30935513G>C	ENST00000355537.3	+	2	1191	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCGCTGCGAGGTGTGCGGTC	0.652000													56	173					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105160975	105160975	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:105160975G>A	ENST00000436393.2	+	23	3528	c.3287G>A	c.(3286-3288)gGc>gAc	p.G1096D	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	524					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCACCTTGGGCACCAGTGGC	0.532000										HNSCC(12;0.0054)			21	38					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67067883	67067883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:67067883T>A	ENST00000276573.7	+	10	1776	c.1550T>A	c.(1549-1551)tTg>tAg	p.L517*	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000315962.4_Intron|TRIM55_ENST00000350034.4_Intron	NM_033058.2	NP_149047.2	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	0						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTAGCGCTTTTGGCTTTTCTT	0.328000													10	37					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067630	175067630	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:175067630C>G	ENST00000239462.4	+	9	2131	c.2018C>G	c.(2017-2019)aCa>aGa	p.T673R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	673	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAGCAGCACAGTCCTGACA	0.632000													34	72					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906145	164906145	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:164906145G>T	ENST00000475390.1	-	2	2917	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S825Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	825						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTAAGCTGGGAGCTGGACAC	0.542000										HNSCC(40;0.11)			42	130					3.78316e-11	4.59952e-11	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875546	247875546	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:247875546G>T	ENST00000302084.2	-	1	559	c.512C>A	c.(511-513)cCc>cAc	p.P171H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGCACGGGGGCCACAGAA	0.597000													29	94					1.77063e-15	2.35744e-15	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945043	151945043	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:151945043C>A	ENST00000355193.2	-	14	2694	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C	KMT2C_ENST00000262189.6_Missense_Mutation_p.G826C					lysine (K)-specific methyltransferase 2C																		GCTGGTTTACCCATGCCAATT	0.398000													26	428					4.7796e-09	5.64751e-09	1	1	0
C12orf42	374470	broad.mit.edu	37	12	103762736	103762736	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:103762736C>A	ENST00000378113.2	-	4	413	c.188G>T	c.(187-189)aGa>aTa	p.R63I	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.R63I|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.R63I	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATTAATGAATCTGGAGCAGGG	0.348000													3	6					0.115264	0.116017	1	1	0
IL1RAP	3556	broad.mit.edu	37	3	190326946	190326946	+	Silent	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:190326946C>G	ENST00000412504.2	+	4	765	c.513C>G	c.(511-513)gtC>gtG	p.V171V	IL1RAP_ENST00000439062.1_Silent_p.V171V|IL1RAP_ENST00000317757.3_Silent_p.V171V|IL1RAP_ENST00000434491.1_Silent_p.V30V|IL1RAP_ENST00000422940.1_Silent_p.V171V|IL1RAP_ENST00000447382.1_Silent_p.V171V|IL1RAP_ENST00000072516.3_Silent_p.V171V|IL1RAP_ENST00000422485.1_Silent_p.V171V|IL1RAP_ENST00000443369.2_Silent_p.V171V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	171	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTTCCAGTGTCAAACCGACTA	0.338000													4	85					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569862	248569862	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248569862G>T	ENST00000366474.1	+	1	567	c.567G>T	c.(565-567)cgG>cgT	p.R189R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGCCGCCGGGTCTGTTGGA	0.557000													47	85					2.65591e-33	3.97097e-33	1	1	0
PRDM13	59336	broad.mit.edu	37	6	100061923	100061923	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:100061923A>G	ENST00000369214.1	+	4	1703	c.1442A>G	c.(1441-1443)tAc>tGc	p.Y481C	PRDM13_ENST00000369215.4_Missense_Mutation_p.Y471C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GAGCTGCTCTACGGCTCACCG	0.637000													18	68					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158958578	158958578	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:158958578G>A	ENST00000605860.1	+	4	220	c.174G>A	c.(172-174)atG>atA	p.M58I	UPP2_ENST00000409859.4_Missense_Mutation_p.M58I|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Start_Codon_SNP_p.M1I			O95045	UPP2_HUMAN	uridine phosphorylase 2	1					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TAGAGAGAATGGCTTCAGTTA	0.333000													31	102					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321307	52321307	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:52321307G>T	ENST00000356297.4	-	17	2977	c.2877C>A	c.(2875-2877)caC>caA	p.H959Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.H959Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	959					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGTTGGCCCGGTGGTCCCCGG	0.667000													7	14					0.00307968	0.00319016	1	1	0
CHRNA6	8973	broad.mit.edu	37	8	42620288	42620288	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:42620288G>C	ENST00000276410.2	-	2	494	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	CHRNA6_ENST00000534622.1_Missense_Mutation_p.Q47E|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	47						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATGAACTGGTTGTAATGA	0.547000													36	126					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119001570	119001570	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:119001570A>T	ENST00000350777.2	+	3	380	c.317A>T	c.(316-318)cAg>cTg	p.Q106L	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.Q106L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	106					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGCAAAGCCAGGCTGACCTT	0.567000													36	87					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56348080	56348080	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:56348080C>T	ENST00000548747.1	-	11	2566	c.1904G>A	c.(1903-1905)aGt>aAt	p.S635N	PMEL_ENST00000548493.1_Missense_Mutation_p.S635N|PMEL_ENST00000449260.2_Missense_Mutation_p.S642N|PMEL_ENST00000552882.1_Missense_Mutation_p.S635N|PMEL_ENST00000550464.1_Missense_Mutation_p.S549N|PMEL_ENST00000536427.1_Missense_Mutation_p.S600N|PMEL_ENST00000360714.4_Missense_Mutation_p.S642N|PMEL_ENST00000539511.1_Missense_Mutation_p.S549N|PMEL_ENST00000550447.1_Missense_Mutation_p.S264N			P40967	PMEL_HUMAN	premelanosome protein	635					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCCAGTGACTGCTGCTATG	0.527000													27	63					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100012156	100012156	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:100012156C>T	ENST00000260702.3	-	12	2055	c.1905G>A	c.(1903-1905)gaG>gaA	p.E635E	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	635	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCTTGTGCCCCTCAGCCACCT	0.537000													4	163					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237002	26237002	+	RNA	SNP	A	A	G	rs3205793		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:26237002A>G	ENST00000519902.1	-	0	2946																											TGGCTATACCACATCATCATA	0.368000													10	43					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113793676	113793676	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr13:113793676G>C	ENST00000375559.3	+	4	300	c.262G>C	c.(262-264)Gac>Cac	p.D88H	F10_ENST00000375551.3_Missense_Mutation_p.D88H|F10_ENST00000409306.1_Missense_Mutation_p.D88H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	88	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGATGGCGACCAGTGTGA	0.507000													15	22					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552143	228552143	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:228552143C>A	ENST00000258403.3	-	6	1532	c.1461G>T	c.(1459-1461)gaG>gaT	p.E487D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.E483D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	487					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGATATTACTCTCTTCCTCTG	0.408000													27	62					1.32181e-22	1.8848e-22	1	1	0
ZNHIT3	9326	broad.mit.edu	37	17	34848673	34848673	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:34848673A>C	ENST00000225410.4	+	3	200	c.135A>C	c.(133-135)gaA>gaC	p.E45D	ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.E45D|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	45					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GCAACCCTGAAACTCGTCCTG	0.448000													31	93					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052111	9052111	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:9052111C>G	ENST00000382496.5	-	20	3384	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	907	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTTCACACTCAGACCAGTCC	0.622000													3	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074184	216074184	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:216074184C>A	ENST00000366943.2	-	39	7750	c.7364G>T	c.(7363-7365)tGg>tTg	p.W2455L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2455L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2455	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTGTAGACCAGACAACCTG	0.512000										HNSCC(13;0.011)			30	76					1.88708e-17	2.54922e-17	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512000													5	410					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	43					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138964071	138964071	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr7:138964071A>G	ENST00000288561.8	+	13	2032	c.1783A>G	c.(1783-1785)Aaa>Gaa	p.K595E	UBN2_ENST00000473989.2_Missense_Mutation_p.K678E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	678										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						TAGGGCAAAGAAAAAGGTGAT	0.284000													6	35					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122828484	122828484	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:122828484C>T	ENST00000264811.5	-	6	2230	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	TRPC3_ENST00000513531.1_Silent_p.G549G|TRPC3_ENST00000379645.3_Silent_p.G677G	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	592					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAACTTTAGCCCCAAGGTAGT	0.328000													39	115					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651019	6651019	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6651019G>T	ENST00000299441.3	-	11	5330	c.4919C>A	c.(4918-4920)gCt>gAt	p.A1640D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1640	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGACGTCAGCGACACTGAC	0.632000													21	34					2.37509e-13	3.01454e-13	1	1	0
NID2	22795	broad.mit.edu	37	14	52520434	52520434	+	Missense_Mutation	SNP	G	G	A	rs142884639	byFrequency	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:52520434G>A	ENST00000216286.5	-	5	1291	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	NID2_ENST00000541773.1_Missense_Mutation_p.S378L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	431						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCATTTCCGAAGGCACTGG	0.537000													41	79					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998475	92998475	+	Silent	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:92998475G>T	ENST00000523629.1	-	9	1610	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	RUNX1T1_ENST00000422361.2_Silent_p.R349R|RUNX1T1_ENST00000360348.2_Silent_p.R349R|RUNX1T1_ENST00000520724.1_Silent_p.R349R|RUNX1T1_ENST00000265814.3_Silent_p.R386R|RUNX1T1_ENST00000396218.1_Silent_p.R359R|RUNX1T1_ENST00000436581.2_Silent_p.R397R|RUNX1T1_ENST00000518844.1_Silent_p.R359R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	386			R -> W (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AATTCTTCCCGGTCTGCTTCT	0.498000													22	100					1.9806e-07	2.23725e-07	1	1	0
SLC13A5	284111	broad.mit.edu	37	17	6589585	6589585	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:6589585C>T	ENST00000433363.2	-	12	1881	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	550						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCAAATATGGCCCGTCCCCAG	0.473000													4	133					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56734585	56734585	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:56734585G>A	ENST00000381295.2	+	5	847	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	EXOC1_ENST00000346134.7_Missense_Mutation_p.E167K|EXOC1_ENST00000349598.6_Missense_Mutation_p.E167K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	167					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAATGCAAGAGAAGAACAGGA	0.398000													14	30					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184105203	184105203	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:184105203A>G	ENST00000204604.1	+	19	2635	c.2389A>G	c.(2389-2391)Acg>Gcg	p.T797A	CHRD_ENST00000450923.1_Missense_Mutation_p.T797A|CHRD_ENST00000348986.3_Missense_Mutation_p.T757A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.T339A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	797	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCGGGTACGCGGTGGCA	0.597000													28	26					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646682	80646682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:80646682G>T	ENST00000466387.1	+	13	1970	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E95*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E450*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	416					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E416*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAGTGAAAGAATATGCCCA	0.448000													23	61					1.10513e-12	1.38742e-12	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63417206	63417206	+	Silent	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:63417206C>T	ENST00000322893.7	-	7	1282	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	KCNH5_ENST00000394968.1_Silent_p.L280L|KCNH5_ENST00000394964.2_Silent_p.L280L|KCNH5_ENST00000420622.2_Silent_p.L338L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	338					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTAATGGTCCAGTTTCCTAG	0.473000													34	63					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54424273	54424273	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr18:54424273G>T	ENST00000254442.3	+	15	2660	c.2449G>T	c.(2449-2451)Gat>Tat	p.D817Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D817Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	817										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGAAGTACTGGATGAAGTTTG	0.473000													57	82					1.55088e-19	2.15168e-19	1	1	0
IGHA2	3494	broad.mit.edu	37	14	106053960	106053960	+	RNA	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:106053960C>T	ENST00000390539.2	-	0	558																											GTGAAGGTCTCCCCATGGTTC	0.622000													18	39					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500050	71500050	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:71500050G>A	ENST00000396073.3	+	6	517	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	79					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTTCTTTGGAAACGGTCTC	0.507000													64	135					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239056481	239056481	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:239056481C>T	ENST00000409223.1	+	6	1264	c.1157C>T	c.(1156-1158)aCc>aTc	p.T386I	KLHL30_ENST00000305959.4_Missense_Mutation_p.T368I			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	386										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACAGGCACCACCCTGGACGTG	0.657000													8	24					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964665	176964665	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:176964665C>A	ENST00000406506.2	+	1	208	c.136C>A	c.(136-138)Cgc>Agc	p.R46S	HOXD12_ENST00000404162.2_Missense_Mutation_p.R46S			P35452	HXD12_HUMAN	homeobox D12	46				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTCCTACCCGCGCGGCGCGCT	0.711000													14	60					4.36969e-10	5.21653e-10	1	1	0
CD7	924	broad.mit.edu	37	17	80274611	80274611	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:80274611C>A	ENST00000584284.1	-	2	410	c.329G>T	c.(328-330)gGc>gTc	p.G110V	CD7_ENST00000583376.1_Missense_Mutation_p.G10V|CD7_ENST00000578509.1_Missense_Mutation_p.G10V|CD7_ENST00000312648.3_Missense_Mutation_p.G110V			P09564	CD7_HUMAN	CD7 molecule	110	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GGTGTAGGTGCCAGTGTCCGA	0.637000													38	142					5.44703e-19	7.53451e-19	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102189341	102189341	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:102189341G>T	ENST00000306176.1	+	9	1185	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R346L|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R346L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	346						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCATTACTCGGAGTGGTAAG	0.522000													6	42					0.0215528	0.021981	1	1	0
STAT2	6773	broad.mit.edu	37	12	56743181	56743181	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr12:56743181C>T	ENST00000418572.2	-	15	1433	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	STAT2_ENST00000314128.4_Intron|STAT2_ENST00000556539.1_Intron|STAT2_ENST00000557235.1_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	0					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AAGCTGCTTTCTCTCTCCTTG	0.473000													58	171					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091192	26091192	+	Missense_Mutation	SNP	G	G	T	rs139523708		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr6:26091192G>T	ENST00000357618.5	+	2	322	c.200G>T	c.(199-201)cGt>cTt	p.R67L	HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.R67L|HFE_ENST00000309234.6_Missense_Mutation_p.R67L|HFE_ENST00000317896.7_Missense_Mutation_p.R67L|HFE_ENST00000349999.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R67L|HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.R67L|HFE_ENST00000397022.3_Missense_Mutation_p.R44L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	67	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGTCGCCGTGTGGAGCCC	0.512000									Hemochromatosis				35	85					4.11147e-13	5.18989e-13	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160061553	160061553	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:160061553A>G	ENST00000327245.5	-	12	2035	c.1189T>C	c.(1189-1191)Ttc>Ctc	p.F397L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	397					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCTCAAGAAGAACACTTGC	0.473000													37	42					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073877	168073878	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:168073877_168073878delAG	ENST00000367838.1	-	4	524_525	c.211_212delCT	c.(211-213)gfs	p.L71fs	GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000537209.1_Frame_Shift_Del_p.L91fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.L71fs|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.L71fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.L71fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	71					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAAGTTGGACAGAGTCAGGCTG	0.530													38	101	---	---	---	---					
OR2L3	391192	broad.mit.edu	37	1	248224614	248224615	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248224614_248224615insT	ENST00000359959.3	+	1	631_632	c.631_632insT	c.(631-633)tgcfs	p.C211fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			GTTTCCCTTCATTGCTATTTCA	0.520													58	152	---	---	---	---					
OR2T1	26696	broad.mit.edu	37	1	248569335	248569335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr1:248569335delC	ENST00000366474.1	+	1	40	c.40delC	c.(40-42)ttfs	p.L15fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCTTCCCACTTTTAAAAGT	0.308													33	69	---	---	---	---					
C2orf57	165100	broad.mit.edu	37	2	232458813	232458813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr2:232458813delC	ENST00000313965.2	+	1	1239	c.1151delC	c.(1150-1152)acfs	p.T384fs		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	384										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGCCACCTCACCCCACGCCAG	0.652													11	56	---	---	---	---					
MAGI1	9223	broad.mit.edu	37	3	65361520	65361520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr3:65361520delT	ENST00000330909.8	-	19	3179	c.3180delA	c.(3178-3180)gcfs	p.A1060fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.A1061fs|MAGI1_ENST00000402939.2_Frame_Shift_Del_p.A1032fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1061	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCCATTTACTGCCAAGATCC	0.498													33	78	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155156292	155156293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:155156292_155156293insC	ENST00000357232.3	-	25	8145_8146	c.8146_8147insG	c.(8146-8148)aggfs	p.R2716fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGCAGCCTTCCCCTTGATCT	0.510													21	60	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183652084	183652084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr4:183652084delC	ENST00000511685.1	+	16	2882	c.2759delC	c.(2758-2760)tcfs	p.S920fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.S920fs					teneurin transmembrane protein 3																		TTTGAACGATCCCCATTCCTC	0.418													12	33	---	---	---	---					
PCDHAC1	56135	broad.mit.edu	37	5	140308211	140308212	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140308211_140308212insT	ENST00000253807.2	+	1	1734_1735	c.1734_1735insT	c.(1732-1737)catggtfs	p.G579fs	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Frame_Shift_Ins_p.G579fs	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGGACACTTGGTCACAAA	0.490													41	71	---	---	---	---					
PCDHGA6	56109	broad.mit.edu	37	5	140755535	140755536	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:140755535_140755536delGC	ENST00000517434.1	+	1	1885_1886	c.1885_1886delGC	c.(1885-1887)gfs	p.A629fs	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCACGGCGCGCGCCCTG	0.688													39	76	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176637807	176637807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr5:176637807delC	ENST00000439151.2	+	5	2452	c.2407delC	c.(2407-2409)ccfs	p.P804fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.P535fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P701fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.P535fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	804					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TATGGCAGAACCCCCAGTTAT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	25	---	---	---	---					
SGCZ	137868	broad.mit.edu	37	8	13948076	13948077	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:13948076_13948077insT	ENST00000382080.1	-	8	1529_1530	c.814_815insA	c.(814-816)ctcfs	p.L272fs	SGCZ_ENST00000421524.2_Frame_Shift_Ins_p.L225fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	259					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.S272I(1)		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)		ACTTGAGGAGCTGGGTGAAGAA	0.431													24	95	---	---	---	---					
KCNV1	27012	broad.mit.edu	37	8	110980332	110980333	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr8:110980332_110980333insAC	ENST00000524391.1	-	4	2519_2520	c.1487_1488insGT	c.(1486-1488)ggafs	p.G496fs	KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.G496fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	496						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACCAGAAATCATCTCCCCCGCT	0.371													8	46	---	---	---	---					
EHMT1	79813	broad.mit.edu	37	9	140611227	140611228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr9:140611227_140611228insT	ENST00000460843.1	+	3	262_263	c.235_236insT	c.(235-237)caafs	p.Q79fs	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.Q48fs|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.Q79fs	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	79					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCGCAAGGGTCAACCCCCAG	0.554													26	99	---	---	---	---					
PRKCQ	5588	broad.mit.edu	37	10	6540446	6540446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:6540446delC	ENST00000263125.5	-	5	553	c.454delG	c.(454-456)cafs	p.A152fs	PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.A152fs|PRKCQ_ENST00000539722.1_Frame_Shift_Del_p.A27fs	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	152					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGACCTTTGCCTGCTTGATG	0.512													26	71	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	4	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs56194704		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggc>ctCTGgggc	p.33_34LG>LWG		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													3	4	---	---	---	---					
OR10AG1	282770	broad.mit.edu	37	11	55735761	55735761	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr11:55735761delA	ENST00000312345.2	-	1	229	c.179delT	c.(178-180)tgfs	p.L60fs		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACAGATTTCCAAAAGGGAAAA	0.353													28	79	---	---	---	---					
AE000661.37	0	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:22933391delC	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							TTAGAAATGGCTAAGAAACCA	0.408													9	7	---	---	---	---					
MYH6	4624	broad.mit.edu	37	14	23871681	23871681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr14:23871681delC	ENST00000405093.3	-	12	1203	c.1133delG	c.(1132-1134)gcfs	p.G378fs	MYH6_ENST00000356287.3_Frame_Shift_Del_p.G378fs	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	378	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCTTCGGTGCCGTCTGGCTC	0.627													44	92	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													7	42	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25432655	25432656	+	RNA	DEL	GT	GT	-	rs140199446	by1000genomes	TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:25432655_25432656delGT	ENST00000424208.1	+	0	761					NR_003305.1																						CACTGGATGGGTGTGTGTGGTG	0.550													76	286	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													3	6	---	---	---	---					
CASKIN1	57524	broad.mit.edu	37	16	2234977	2234977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:2234977delG	ENST00000343516.6	-	13	1391	c.1299delC	c.(1297-1299)ccfs	p.P433fs	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	433	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GAGGCTTGGCGGGGCTGTCCC	0.667													29	46	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													8	202	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA	rs71838018		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.460													2	4	---	---	---	---					
C17orf77	146723	broad.mit.edu	37	17	72588882	72588882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:72588882delC	ENST00000392620.1	+	3	1059	c.697delC	c.(697-699)ccfs	p.P233fs	C17orf77_ENST00000328023.2_Frame_Shift_Del_p.P233fs	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	233						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGACCCACTGCCCCTTCCCCC	0.577													24	55	---	---	---	---					
AFMID	125061	broad.mit.edu	37	17	76201735	76201735	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr17:76201735delG	ENST00000409257.5	+	9	750	c.696delG	c.(694-696)ccfs	p.P232fs	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.P232fs|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	232						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGCACAGCCGGTGGACCCCA	0.652													20	41	---	---	---	---					
ZNF585B	92285	broad.mit.edu	37	19	37676952	37676953	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:37676952_37676953insAT	ENST00000532828.2	-	5	1737_1738	c.1486_1487insAT	c.(1486-1488)ttcfs	p.F496fs	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.F441fs|ZNF585B_ENST00000312908.5_Frame_Shift_Ins_p.F84fs	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTGGAACATATATAAGAT	0.401													19	69	---	---	---	---					
IRF3	3661	broad.mit.edu	37	19	50166762	50166765	+	Frame_Shift_Del	DEL	CGGC	CGGC	-	rs112234580		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chr19:50166762_50166765delCGGC	ENST00000597198.1	-	3	553_556	c.172_175delGCCG	c.(172-177)agfs	p.AE58fs	IRF3_ENST00000442265.2_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000601291.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000599223.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000600911.1_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000309877.7_Frame_Shift_Del_p.AE58fs|IRF3_ENST00000377135.4_Frame_Shift_Del_p.AE58fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	58					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCAGTGGCCTCGGCCCAGGCCTGG	0.603													7	33	---	---	---	---					
GLA	2717	broad.mit.edu	37	X	100652942	100652943	+	In_Frame_Ins	INS	-	-	AGG	rs113993943		TCGA-DQ-7595-01A-11D-2229-08	TCGA-DQ-7595-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d504cd7-09f0-4691-a1b2-55fc7d206439	b22ca993-a7fe-4ef4-97b2-92319beec503	g.chrX:100652942_100652943insAGG	ENST00000218516.3	-	7	1165_1166	c.1144_1145insCCT	c.(1144-1146)ctt>CCTctt	p.381_382insP	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	381					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TGTGATGAAGCAGGCAGGATTA	0.490													22	33	---	---	---	---					
