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
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438000													6	173					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480747	19480747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:19480747C>T	ENST00000270570.4	+	17	1680	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	532						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGAACATCCACAGGACGGCGC	0.507000													33	204					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													13	596					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023992	76023992	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:76023992A>T	ENST00000393004.2	-	5	1777	c.1556T>A	c.(1555-1557)aTa>aAa	p.I519K	FILIP1_ENST00000237172.7_Missense_Mutation_p.I519K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	519										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTGTTTTATTTTTTCCAT	0.318000													4	72					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071913	131071913	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071913G>T	ENST00000372890.4	-	8	1245	c.912C>A	c.(910-912)acC>acA	p.T304T	TRUB2_ENST00000546104.1_Silent_p.T248T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	304					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GGAGCTGCTTGGTGTCCAGCC	0.657000													23	62					1.50039e-11	1.63868e-11	1	1	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													24	253					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388145	196388145	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196388145C>T	ENST00000328557.4	+	3	1834	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TTAGATCTGTCGGGGAATTGC	0.567000													30	79					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610826	106610826	+	RNA	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:106610826C>T	ENST00000390603.2	-	0	26																											TTGGGAATCCCAAGGCTGGGG	0.507000													35	140					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72307604	72307604	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:72307604A>T	ENST00000550746.1	+	13	1415		c.e13-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTCTTTTTAGGATATGTTC	0.353000													6	289					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170598013	170598013	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:170598013C>T	ENST00000392647.2	+	3	1576	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Silent_p.N444N	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	444										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCGATATCAACGAATGGAGCC	0.428000													4	28					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													8	197					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													11	482					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000521922.1_Missense_Mutation_p.N929K|UBR5_ENST00000220959.4_Missense_Mutation_p.N935K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358000													5	256					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323000													5	179					0	0	1	0	0
LITAF	9516	broad.mit.edu	37	16	11650593	11650593	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:11650593T>A	ENST00000571688.1	-	2	226		c.e2-2		LITAF_ENST00000570904.1_Splice_Site|LITAF_ENST00000413364.2_Splice_Site|LITAF_ENST00000381810.3_Splice_Site|LITAF_ENST00000339430.5_Splice_Site|LITAF_ENST00000574703.1_Splice_Site|LITAF_ENST00000576036.1_Splice_Site|LITAF_ENST00000574763.1_Splice_Site|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571976.1_Splice_Site|LITAF_ENST00000571459.1_Splice_Site	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor						apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						ACATTTTACCTAAAACAGAAA	0.443000													4	116					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140281033	140281033	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:140281033G>T	ENST00000296543.5	+	12	1717	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	465					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAAATGTGCTCAAAGTTT	0.368000													36	44					1.60099e-16	1.78978e-16	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111968039	111968039	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:111968039G>A	ENST00000369732.3	-	4	338	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	OVGP1_ENST00000540696.1_Silent_p.L35L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	95					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCGATGGACAGTAGTGTTTTC	0.517000													11	58					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152400	42152400	+	Silent	SNP	G	G	A	rs145419406		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:42152400G>A	ENST00000269097.4	+	4	711	c.480G>A	c.(478-480)tcG>tcA	p.S160S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	160					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCTTGTCGCGAATCTTCA	0.557000													20	127					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95572562	95572562	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:95572562T>A	ENST00000526495.1	-	20	3096		c.e20-2		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000527414.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGCGATATCTAAAAAAGAAA	0.308000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	85					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938444	76938444	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:76938444C>G	ENST00000373344.5	-	9	2518	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	ATRX_ENST00000395603.3_Missense_Mutation_p.K730N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	768					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCGCCTGAGTCTTTAAATCAT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	156					0	0	1	0	0
SNRNP25	79622	broad.mit.edu	37	16	106598	106598	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:106598G>T	ENST00000383018.3	+	4	487	c.326G>T	c.(325-327)aGa>aTa	p.R109I		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	109	Ubiquitin-like.				mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						ACGGAAGACAGAAAGAAGCTC	0.597000													10	29					3.03607e-14	3.36238e-14	1	1	0
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363000													4	130					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149833372	149833372	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:149833372A>T	ENST00000253329.2	-	12	1178	c.1146T>A	c.(1144-1146)agT>agA	p.S382R	PPIL4_ENST00000340881.2_Missense_Mutation_p.V15E	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	382	Lys-rich.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TGTGTTTTTTACTTGTGTGTG	0.358000													6	248					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621532	31621532	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:31621532C>T	ENST00000379416.3	-	5	388	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	114					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCAGAACCCGCACTGGGAG	0.552000													3	127					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303000													4	86					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363000													6	204					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812706	131812706	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:131812706C>A	ENST00000286355.5	-	15	5118	c.3026G>T	c.(3025-3027)cGc>cTc	p.R1009L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1009					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATTGAGCAAGCGCAGGCATTC	0.443000										HNSCC(32;0.087)			13	1049					0.0809354	0.0816242	1	1	0
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:22180791A>T	ENST00000390424.2	+	0	74																											TGTTTTCTGTAGTTGCAGAAA	0.418000													5	218					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699039	49699039	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:49699039A>T	ENST00000303221.5	-	6	1065	c.850T>A	c.(850-852)Tac>Aac	p.Y284N	EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	284						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTGTGTGTACTTTTCACAA	0.343000													4	117					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													18	179					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:82935895A>T	ENST00000260047.6	+	6	1378		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000393392.2_Splice_Site			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333000													14	308					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43447837	43447837	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:43447837G>A	ENST00000266254.7	-	9	1188	c.948C>T	c.(946-948)atC>atT	p.I316I	TTLL1_ENST00000331018.7_Intron|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	316	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCTTGTCGTCGATGATGATGT	0.562000													10	249					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577000													4	202					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:151640946A>T	ENST00000368843.3	+	7	1105		c.e7-1		SNX27_ENST00000458013.2_Splice_Site|SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000368838.1_Splice_Site	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27						cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373000													8	181					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	42					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGTTGCTCTTATTTCAGTGGG	0.507000													7	299					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27254266	27254266	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:27254266G>A	ENST00000361042.4	+	7	860	c.635G>A	c.(634-636)gGc>gAc	p.G212D	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	211					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGAAAATGGGCATTGAGTTT	0.463000													4	104					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348049	140348049	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:140348049C>T	ENST00000289269.5	+	1	2230	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		566	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCCAACGTATATGTGG	0.537000													3	73					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758001	141758001	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:141758001A>T	ENST00000475668.2	+	31	3747		c.e31-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	TCTATTTTCTAGTTGATTGGC	0.428000													9	456					0	0	1	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453000													8	379					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183891355	183891355	+	Splice_Site	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183891355G>T	ENST00000304685.3	+	18	2570		c.e18-1		RGL1_ENST00000360851.3_Splice_Site|RGL1_ENST00000367531.1_Splice_Site|RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000536277.1_Splice_Site	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGTCTTTGCAGTTGACGAGCC	0.512000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	82					0.014758	0.0149472	1	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668262	71668262	+	Silent	SNP	G	G	A	rs142821011	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:71668262G>A	ENST00000268485.3	+	3	806	c.762G>A	c.(760-762)aaG>aaA	p.K254K	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	254	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACGGGGAGAAGGCCCAGCAAC	0.582000													5	132					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74289224	74289224	+	Silent	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:74289224C>A	ENST00000253577.3	-	11	1458	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Silent_p.V477V|ABCB7_ENST00000339447.4_Silent_p.V437V	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	477	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTCAAAATGCACATTATCAA	0.468000													13	140					0.00244969	0.00254639	1	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													8	254					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433385	100433385	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:100433385G>A	ENST00000375147.3	+	23	2533	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	759					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAATAATCCAGCAGTACATGG	0.493000													6	362					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32132516	32132516	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:32132516T>A	ENST00000375250.5	-	7	1412		c.e7-2		ARHGAP12_ENST00000344936.2_Splice_Site|ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCATTATACTAAAACAAAAC	0.363000													5	57					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829684	106829684	+	RNA	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:106829684G>A	ENST00000390616.2	-	0	309																											CTGATATGGTGACTCGACTCT	0.567000													6	400					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196461	24196461	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:24196461C>T	ENST00000303531.7	+	14	1715	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PRKCB_ENST00000321728.7_Silent_p.S521S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	521	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATGGGAAGTCCGTGGATTGGT	0.453000													9	178					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725568	55725568	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:55725568A>T	ENST00000379667.1	+	1	84	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTCTTTTTATTTATCACGT	0.423000													7	301					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:117644000A>T	ENST00000369466.3	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299000													5	81					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537000													9	307					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19744489	19744489	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:19744489T>A	ENST00000222567.5	-	2	379	c.309A>T	c.(307-309)ggA>ggT	p.G103G		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	103						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CATAAATATCTCCAAGCTCTC	0.358000													10	188					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710440	233710440	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:233710440A>T	ENST00000373566.3	+	27	3568		c.e27-1		GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTTTTGCTTTAGTAAATCTGT	0.358000													4	92					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56090749G>A	ENST00000257880.7	-	13	2022	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000394229.2_Silent_p.A557A			Q13683	ITA7_HUMAN	integrin, alpha 7	601					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607000													8	109					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270777	22270777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:22270777A>T	ENST00000594947.1	+	4	370		c.e4-1		ZNF257_ENST00000600162.1_Splice_Site	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATTTCTTTTAGTTATGTGTT	0.299000													6	61					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922535	17922535	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:17922535C>T	ENST00000318683.6	+	3	870	c.723C>T	c.(721-723)aaC>aaT	p.N241N	B3GNT3_ENST00000595387.1_Silent_p.N241N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	241					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGATCCAAAACGTGGGCCCCA	0.567000													36	36					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859904	52859904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:52859904G>A	ENST00000266041.4	-	6	853	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	253					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACCCACCTGAATGGAGCCC	0.552000													11	22					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597278	38597278	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:38597278C>A	ENST00000222345.6	+	7	2640	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	711	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGGCAGCAGGTCAGTGA	0.587000													11	109					0.00829132	0.00847001	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													3	31					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													9	97					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11935588	11935588	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:11935588T>G	ENST00000571133.1	-	7	891	c.819A>C	c.(817-819)gaA>gaC	p.E273D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	273					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTGGTGGCTTCATCCCAAT	0.373000													56	45					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328000													7	129					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767265	88767265	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:88767265T>A	ENST00000497649.2	+	6	1551	c.1173T>A	c.(1171-1173)aaT>aaA	p.N391K	MEPE_ENST00000540395.1_Missense_Mutation_p.N302K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000560249.1_Missense_Mutation_p.N302K|MEPE_ENST00000424957.3_Missense_Mutation_p.N415K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	415					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCATTCTAATAGGAACCAAG	0.388000													6	235					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19296004	19296004	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:19296004A>T	ENST00000307015.9	+	2	126		c.e2-1		DENND4C_ENST00000434457.2_Splice_Site|DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000380432.2_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C							integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTACTCTTTAGGTATATGGA	0.358000													6	168					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248758	1248758	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:1248758G>T	ENST00000348261.5	+	6	1035	c.787G>T	c.(787-789)Gac>Tac	p.D263Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	263					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCTTCCTGGACAGTGCCTT	0.642000													4	16					0.00909568	0.00925183	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183097727	183097727	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183097727A>T	ENST00000258341.4	+	18	3380		c.e18-1		LAMC1_ENST00000466964.1_Splice_Site	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)						axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTATGTTTAGGTTGCTGAT	0.433000													5	134					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894145	23894145	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23894145G>A	ENST00000355349.3	-	22	2674	c.2512C>T	c.(2512-2514)Ccg>Tcg	p.P838S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	838					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCAGCGGCTTGATCTTG	0.562000													3	118					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787127	121787127	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:121787127G>A	ENST00000261367.7	+	12	4154	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G862E|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	862					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGCCTTTTGGAGCCTTTCGA	0.463000													5	186					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93489267	93489267	+	Splice_Site	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:93489267G>A	ENST00000394196.4	+	12	2266		c.e12-1		CHD2_ENST00000557381.1_Splice_Site|CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						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)			ATATGAAATAGCTCATAGTCG	0.363000													3	83					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327137	77327137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:77327137G>A	ENST00000282849.5	-	20	3443	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1009	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCACCCCTCGTCCACAGGTC	0.488000													133	130					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527410	117527410	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:117527410G>A	ENST00000393203.2	+	8	2423	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	759	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACCACCTCCCGGAGGGACTGG	0.587000													5	195					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000336804.8_Splice_Site|TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388000													4	135					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129761967	129761967	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:129761967A>T	ENST00000335420.5	+	5	838	c.704A>T	c.(703-705)cAc>cTc	p.H235L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	235										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACAGACCTGCACAAGTTAGAT	0.433000													30	179					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259000													4	51					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072072	131072072	+	Silent	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131072072G>C	ENST00000372890.4	-	8	1086	c.753C>G	c.(751-753)gtC>gtG	p.V251V	TRUB2_ENST00000546104.1_Silent_p.V195V|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	251					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CTTGGGTGCAGACAGCAGTGG	0.577000													20	86					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71200945	71200945	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:71200945T>A	ENST00000273936.4	+	1	248	c.189T>A	c.(187-189)acT>acA	p.T63T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	63						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCAACAACTACAGACAACA	0.353000													9	292					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873803	66873803	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:66873803G>A	ENST00000269080.2	-	31	4073	c.3936C>T	c.(3934-3936)agC>agT	p.S1312S	ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1312	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCCTCCACCGCTCCCTTTCA	0.567000													5	106					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	443307	443307	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:443307A>T	ENST00000256509.2	+	27	4027		c.e27-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTCTTTTTTAGTTAAAGAAA	0.328000													4	60					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354556	42354556	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:42354556G>A	ENST00000596827.1	+	7	1018	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGGCAGAAGCGGGGGTTCCCA	0.612000													33	82					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:158988314C>A	ENST00000295809.7	+	5	1100	c.845C>A	c.(844-846)gCt>gAt	p.A282D	IFI16_ENST00000430894.2_Missense_Mutation_p.A230D|IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338000													5	151					0.184627	0.184627	1	1	0
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000370931.3_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gcagattaactaaccacagat	0.313000													7	112					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299000			T	BRAF	papillary thyroid								4	74					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													4	72					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332470	153332470	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:153332470A>T	ENST00000281708.4	-	2	1715	c.486T>A	c.(484-486)taT>taA	p.Y162*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Y162*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	162					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGTTTTTGTATAGAATGGGG	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	193					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857602	96857602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:96857602A>T	ENST00000375360.3	+	6	798	c.458A>T	c.(457-459)tAc>tTc	p.Y153F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	153							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCCTAGTTTACTTCTACAAT	0.353000													6	229					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:100286421A>T	ENST00000395211.2	+	2	88		c.e2-1		TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453000													6	253					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350682	65350682	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:65350682G>A	ENST00000309295.4	+	9	2804	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	847	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACAGAGGTCGGGGGTTCAGG	0.552000													12	20					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53560374	53560374	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:53560374T>A	ENST00000342160.3	-	83	13480		c.e83-2		HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATTAAAACTAAGGAAAGAA	0.512000													3	38					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294000													6	175					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358000													6	135					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910514	21910514	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:21910514A>T	ENST00000358296.6	-	5	798	c.600T>A	c.(598-600)acT>acA	p.T200T	ZNF100_ENST00000305570.6_Silent_p.T136T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTTCTTTCTAGTATGTCTTA	0.299000													5	110					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:89133249T>A	ENST00000535633.1	-	11	1250		c.e11-2		NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289000													5	127					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113801797	113801797	+	Silent	SNP	C	C	T	rs5959		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:113801797C>T	ENST00000375559.3	+	7	890	c.852C>T	c.(850-852)ttC>ttT	p.F284F	F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	284	Peptidase S1.				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)	CCAAGAGATTCAAGGTGAGGG	0.512000													10	29					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													9	224					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458000													9	496					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358000													8	226					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100961671	100961671	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:100961671C>T	ENST00000193391.7	-	14	3070	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	961	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCGACTGTTCACCACAATGC	0.433000													23	484					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18875093	18875093	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:18875093C>T	ENST00000446231.2	-	25	3986	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	SMG1_ENST00000389467.3_Missense_Mutation_p.E1192K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1192	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATGTAGCACTCACATGCTTTA	0.413000													5	98					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552000													5	177					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299000													5	93					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071960	131071960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071960G>C	ENST00000372890.4	-	8	1198	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652000													24	62					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84384645	84384645	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:84384645A>T	ENST00000321945.7	-	8	905		c.e8+1		FAM175A_ENST00000506553.1_Splice_Site|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A						chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTGTTTACTTACTTGCTGCCT	0.368000													4	123					0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39469185	39469185	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:39469185A>C	ENST00000261434.3	+	7	774	c.656A>C	c.(655-657)gAt>gCt	p.D219A	LIAS_ENST00000513731.1_Missense_Mutation_p.D89A|LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.D219A	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	219					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TTTCGAGGTGATCTCAAAGCA	0.388000													62	138					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933181	9933181	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:9933181T>A	ENST00000316020.6	-	4	283		c.e4-2		OFCC1_ENST00000472329.1_Splice_Site					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTCTTTAACTAGAGCAAAAC	0.388000													6	261					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215807719	215807719	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:215807719A>G	ENST00000272895.7	-	50	7585	c.7366T>C	c.(7366-7368)Tgt>Cgt	p.C2456R	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2456	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACCTGGTACAGAGAGCTTCA	0.378000													5	159					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042151	242042151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:242042151G>T	ENST00000366548.3	+	13	2208	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	539					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAATCTGCATGAATCAGAGTA	0.408000								Editing and processing nucleases					5	157					1.23904e-05	1.31683e-05	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111632259	111632259	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:111632259C>A	ENST00000431670.2	+	3	1840	c.1429C>A	c.(1429-1431)Cag>Aag	p.Q477K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	477						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAAGATGTGCAGAAAATCAA	0.522000													35	582					1.36239e-07	1.46767e-07	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433000													10	533					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333000													8	168					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097406	167097406	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:167097406G>T	ENST00000361200.2	+	6	3204	c.3038G>T	c.(3037-3039)aGg>aTg	p.R1013M	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1013	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCTCCACCAGGGAGGGCAGA	0.552000													5	227					5.9392e-07	6.36919e-07	1	1	0
TM9SF4	9777	broad.mit.edu	37	20	30745667	30745667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:30745667G>T	ENST00000217315.5	+	14	1689	c.1349G>T	c.(1348-1350)gGc>gTc	p.G450V	TM9SF4_ENST00000398022.2_Missense_Mutation_p.G467V			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	467						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCTACTTGGGCTACTACTTC	0.592000													20	182					5.26018e-13	5.77158e-13	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:11485944A>T	ENST00000423059.3	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338000										HNSCC(18;0.044)			8	403					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048988	42048988	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:42048988C>T	ENST00000372584.1	-	3	2495	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCTGCGCCTGGACAG	0.587000													7	82					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6882679	6882679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:6882679C>T	ENST00000307659.5	+	10	4629	c.4174C>T	c.(4174-4176)Cga>Tga	p.R1392*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1392							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTCTTTTCTCGAACTCATCT	0.458000													9	8					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511943	4511943	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:4511943G>A	ENST00000574733.1	-	6	1467	c.738C>T	c.(736-738)taC>taT	p.Y246Y	NMRAL1_ENST00000404295.3_Silent_p.Y246Y|NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000574425.1_Silent_p.Y246Y			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	246						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAAGCTTTTCGTAGTCCTCAG	0.647000													34	75					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				8	163					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2							integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313000										HNSCC(25;0.065)			8	333					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750143	79750143	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:79750143C>T	ENST00000305428.3	+	2	1729	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	552						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTCTCAGCTCCATAAGTCAGA	0.512000													14	100					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99514268	99514268	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:99514268C>T	ENST00000378919.6	-	3	346	c.141G>A	c.(139-141)ccG>ccA	p.P47P	PGPEP1L_ENST00000535714.1_5'UTR|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	47					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACTTACTTGCGGCTGATGAT	0.592000													16	109					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157062456	157062456	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:157062456G>T	ENST00000454449.2	-	5	1355	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	357						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GAGGATCCAAGGGCCACACTG	0.572000													110	137					7.95947e-74	8.98283e-74	1	1	0
DAW1	164781	broad.mit.edu	37	2	228762944	228762944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:228762944A>T	ENST00000373666.2	+	6	1123	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000309931.2_Missense_Mutation_p.S163C					dynein assembly factor with WDR repeat domains 1																		TAAACTCTGGAGTGTGGAAAC	0.269000													3	66					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418000													13	151					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132561349	132561349	+	Splice_Site	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:132561349C>A	ENST00000265342.7	-	9	1427		c.e9+1		FSTL4_ENST00000507112.1_Splice_Site	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTTCTTACCTAAAAGGGA	0.453000													63	195					7.1157e-29	7.99251e-29	1	1	0
FAM161A	84140	broad.mit.edu	37	2	62067095	62067095	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:62067095A>T	ENST00000404929.1	-	3	1055	c.1044T>A	c.(1042-1044)taT>taA	p.Y348*	FAM161A_ENST00000405894.3_Nonsense_Mutation_p.Y348*	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	348					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTTTTTATACTTAAGAA	0.398000													6	209					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398000													5	151					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353000													7	209					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251164	140251164	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:140251164A>T	ENST00000458420.3	+	9	1534		c.e9-1			NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCTTTTCTTAGATTTGTGAC	0.363000										HNSCC(16;0.037)			6	209					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313000													4	103					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													5	128					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50279921	50279921	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:50279921T>A	ENST00000261667.3	-	15	1624		c.e15-2			NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTACTCAACCTAGACAACAAA	0.388000													5	96					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:155533589T>A	ENST00000404648.3	-	2	318		c.e2-2		FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000405164.1_Splice_Site|FGG_ENST00000407946.1_Splice_Site	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358000													6	252					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418235	122418235	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:122418235A>T	ENST00000474629.2	+	6	1101		c.e6-1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						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)		TTTCCTTTTAAGTGTTAGACA	0.338000													4	91					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998891	72998891	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:72998891C>A	ENST00000322038.5	+	2	1978	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A510D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	510						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGCCTGTGGCTGGCGACGCG	0.602000													3	82					6.4e-05	6.77143e-05	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													11	246					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073688	135073688	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:135073688C>T	ENST00000393229.3	+	3	1325	c.549C>T	c.(547-549)cgC>cgT	p.R183R	NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	183	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)		GCCGGGCCCGCGACATGTCAT	0.672000													7	6					0	0	1	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079505	38079505	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:38079505G>A	ENST00000394169.1	-	5	1680	c.186C>T	c.(184-186)atC>atT	p.I62I	ORMDL3_ENST00000584220.1_Silent_p.I46I|ORMDL3_ENST00000304046.2_Silent_p.I62I|ORMDL3_ENST00000579695.1_Silent_p.I62I			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	62					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGTGCAGGAAGATATACATGC	0.562000													41	150					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967277	64967277	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:64967277G>A	ENST00000326648.3	+	4	2352	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCT	0.468000													7	405					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246629	216246629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:216246629G>T	ENST00000366943.2	-	28	5972	c.5586C>A	c.(5584-5586)tgC>tgA	p.C1862*	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1862	Laminin G-like 2.				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)		CATCCTTCATGCAACCACCGA	0.433000										HNSCC(13;0.011)			5	100					1.23904e-05	1.31683e-05	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456330	5456330	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:5456330G>T	ENST00000222033.4	+	1	905	c.828G>T	c.(826-828)tgG>tgT	p.W276C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	276						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCACCTGTGGCTCTGGGCCC	0.652000													8	85					0.00829132	0.00847001	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79749003	79749003	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:79749003G>A	ENST00000305428.3	+	2	589	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	172						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTTTGTCCCTGCCTCTGAGCC	0.587000													7	108					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000544402.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2							cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTTTGTTTTACCTTGGCAGT	0.502000													7	294					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762827	140762827	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:140762827G>T	ENST00000518325.1	+	1	361	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTATAGACGTGGAAATAAT	0.413000													5	188					1.024e-07	1.10816e-07	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T	rs148813970	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294000													5	28					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1062196	1062196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:1062196C>T	ENST00000263094.6	+	42	5827	c.5596C>T	c.(5596-5598)Cac>Tac	p.H1866Y	ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y|ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1866	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGCTGCGCACCTCAGCAT	0.667000													13	58					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343000													6	101					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	RNA	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:43433624G>A	ENST00000446844.3	-	0	768				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000													13	816					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63667482	63667482	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:63667482G>A	ENST00000402010.2	+	8	1247	c.668G>A	c.(667-669)gGc>gAc	p.G223D	MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	223	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTTCCAGGGCAAAAAATAT	0.502000													6	409					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25784983	25784983	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:25784983T>A	ENST00000374343.4	+	6	933	c.754T>A	c.(754-756)Tac>Aac	p.Y252N	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGATAGAATACCGAGAAAA	0.378000													4	115					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559001	67559001	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:67559001A>T	ENST00000371007.2	-	8	999	c.890T>A	c.(889-891)cTa>cAa	p.L297Q	C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	297										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTTCTTTAGTTTATCATC	0.343000													4	82					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													6	162					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													6	110					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9008347	9008347	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:9008347T>A	ENST00000397910.4	-	41	39410		c.e41-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TTCTCAGACCTGGGGAAGGTA	0.537000													9	602					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100479340T>G	ENST00000388793.4	+	4	532	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000347433.4_Silent_p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	104					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607000													6	123					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071988	131071988	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071988G>C	ENST00000372890.4	-	8	1170	c.837C>G	c.(835-837)atC>atG	p.I279M	TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	279					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TAGCATCCTGGATGTTGGTTA	0.622000													19	54					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134889767	134889767	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:134889767G>A	ENST00000292035.5	-	3	499	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MED27_ENST00000372184.3_Missense_Mutation_p.R146C|MED27_ENST00000357028.2_Missense_Mutation_p.R108C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTTGGTCTACGTTTGGCAGAT	0.428000													16	294					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072107	131072107	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131072107G>A	ENST00000372890.4	-	8	1051	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCGATTTCATGAACCAACTTC	0.572000													8	83					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203706	84203706	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622000													28	46					0	0	1	0	0
NTMT1	28989	broad.mit.edu	37	9	132396435	132396435	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:132396435A>G	ENST00000372486.1	+	3	614	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		AGAGGTGGATATGGTCGACAT	0.582000													6	78					0	0	1	0	0
MNAT1	4331	broad.mit.edu	37	14	61262989	61262989	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:61262989G>T	ENST00000261245.4	+	2	245	c.144G>T	c.(142-144)gaG>gaT	p.E48D	MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	48					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ACTGCCCTGAGTGTGGTACTC	0.403000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					7	181					0.00198382	0.00207121	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													4	79					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													4	123					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													9	99					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													11	379					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35					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)		TCTGTGTTGTATACAGTCATT	0.403000													17	650					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358000													6	104					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								4	84					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													6	308					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799622	76799622	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:76799622G>A	ENST00000312010.6	-	16	2979	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	USP36_ENST00000542802.2_Silent_p.V885V|USP36_ENST00000449938.2_Silent_p.V490V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	885					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCTGCCGTCTGACAGCGGGCA	0.657000													5	48					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000													5	3					0	0	1	0	0
CCDC58	131076	broad.mit.edu	37	3	122087171	122087171	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:122087171T>A	ENST00000291458.5	-	3	184		c.e3-2		CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58											large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TGCCATCAACTAAAAGAACAA	0.328000													5	77					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173523955	173523955	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:173523955T>A	ENST00000367714.3	-	11	1638		c.e11-2		SLC9C2_ENST00000536496.1_Splice_Site|SLC9C2_ENST00000466087.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAGTATAAACTAAAAACAAAG	0.294000													7	195					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378000													5	187					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488637	130488637	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:130488637G>A	ENST00000373289.3	+	10	1459	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	460							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TTTGGGGCCCGCCAGGATGTG	0.607000													2	5					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108942992	108942992	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:108942992T>A	ENST00000228284.3	-	2	547		c.e2-2		SART3_ENST00000431469.2_Splice_Site|SART3_ENST00000552221.1_Splice_Site	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3						RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GATAGACAACTAACAGGAAAA	0.428000									Porokeratosis				5	115					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422422	47422422	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:47422422A>T	ENST00000404338.3	+	1	490	c.490A>T	c.(490-492)Att>Ttt	p.I164F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	164					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCTTCTTGGTATTGATGTTAG	0.448000													5	136					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974275	85974275	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:85974275G>A	ENST00000372117.3	+	17	2581	c.2478G>A	c.(2476-2478)ccG>ccA	p.P826P	CDHR1_ENST00000440770.2_Silent_p.P530P|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	826	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P826P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAACCCCCGCCAAAACCCA	0.582000													4	85					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303884	151303884	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:151303884G>C	ENST00000370323.4	-	4	525	c.209C>G	c.(208-210)aCc>aGc	p.T70S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	70										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTGGGGTGCTTGGTAT	0.532000													15	141					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058043	152058043	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:152058043A>T	ENST00000368806.1	-	3	2179	c.2115T>A	c.(2113-2115)agT>agA	p.S705R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	705							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTTTGCTACTTGGGCCTT	0.458000													10	552					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607854	48607854	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:48607854C>A	ENST00000354276.3	-	4	575	c.248G>T	c.(247-249)gGa>gTa	p.G83V	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	83	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAAGTGGATCCAGAGACCCC	0.498000													41	294					1.42923e-14	1.59027e-14	1	1	0
FOS	2353	broad.mit.edu	37	14	75746590	75746590	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:75746590C>T	ENST00000303562.4	+	2	361	c.152C>T	c.(151-153)aCg>aTg	p.T51M	FOS_ENST00000555686.1_5'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.T51M|FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	51					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GACTTCTGCACGGACCTGGCC	0.622000													3	135					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857597	96857597	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:96857597A>T	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1								protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTTTTCCTAGTTTACTTCT	0.358000													8	216					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111899895	111899895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:111899895C>T	ENST00000374581.3	-	5	874	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	292						integral to membrane											TATATCATGTCGAGTGATAGA	0.378000													23	180					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7568820	7568820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:7568820C>T	ENST00000379802.3	+	11	1758	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	473	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAACAAGATCAGGTGTGTAC	0.358000													75	68					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114340601	114340601	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:114340601A>T	ENST00000261441.5	-	2	824	c.761T>A	c.(760-762)aTa>aAa	p.I254K		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	254	Poly-Lys.					nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCTTTATTTTCTTCAA	0.403000													5	244					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413000													4	79					0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8767075	8767075	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:8767075C>A	ENST00000543214.1	-	3	287	c.152G>T	c.(151-153)cGc>cTc	p.R51L	FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	51						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTCCTGCTGCGCTTCCTGCC	0.557000													10	40					0.000442599	0.000464142	1	1	0
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542000													7	167					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436470	27436470	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:27436470A>T	ENST00000295736.5	-	19	2883	c.2813T>A	c.(2812-2814)aTa>aAa	p.I938K	SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	938						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTTCTGTTTATAATTACAGC	0.338000													4	132					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													4	81					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480747	19480747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:19480747C>T	ENST00000270570.4	+	17	1680	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|SLC47A1_ENST00000436810.2_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	532						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGAACATCCACAGGACGGCGC	0.507000													33	204					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071913	131071913	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071913G>T	ENST00000372890.4	-	8	1245	c.912C>A	c.(910-912)acC>acA	p.T304T	TRUB2_ENST00000546104.1_Silent_p.T248T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	304					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GGAGCTGCTTGGTGTCCAGCC	0.657000													23	62					1.50039e-11	1.68522e-11	1	1	0
NRROS	375387	broad.mit.edu	37	3	196388145	196388145	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:196388145C>T	ENST00000328557.4	+	3	1834	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TTAGATCTGTCGGGGAATTGC	0.567000													30	79					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610826	106610826	+	RNA	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:106610826C>T	ENST00000390603.2	-	0	26																											TTGGGAATCCCAAGGCTGGGG	0.507000													35	140					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170598013	170598013	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:170598013C>T	ENST00000392647.2	+	3	1576	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Silent_p.N444N	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	444										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCGATATCAACGAATGGAGCC	0.428000													4	28					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43447837	43447837	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr22:43447837G>A	ENST00000266254.7	-	9	1188	c.948C>T	c.(946-948)atC>atT	p.I316I	TTLL1_ENST00000331018.7_Intron|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	316	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCTTGTCGTCGATGATGATGT	0.562000													10	249					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323000													5	179					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3143675	3143675	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:3143675A>G	ENST00000381075.2	+	6	583	c.359A>G	c.(358-360)gAc>gGc	p.D120G	PFKP_ENST00000381125.4_Missense_Mutation_p.D128G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	128					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATCGGCGGGGACGGGAGCCTC	0.672000													4	3					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140281033	140281033	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:140281033G>T	ENST00000296543.5	+	12	1717	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	465					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAAATGTGCTCAAAGTTT	0.368000													36	44					1.60099e-16	1.85189e-16	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111968039	111968039	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:111968039G>A	ENST00000369732.3	-	4	338	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	OVGP1_ENST00000540696.1_Silent_p.L35L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	95					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCGATGGACAGTAGTGTTTTC	0.517000													11	58					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152400	42152400	+	Silent	SNP	G	G	A	rs145419406		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:42152400G>A	ENST00000269097.4	+	4	711	c.480G>A	c.(478-480)tcG>tcA	p.S160S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	160					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCTTGTCGCGAATCTTCA	0.557000													20	127					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95572562	95572562	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:95572562T>A	ENST00000526495.1	-	20	3096		c.e20-2		DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGCGATATCTAAAAAAGAAA	0.308000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	85					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938444	76938444	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:76938444C>G	ENST00000373344.5	-	9	2518	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	ATRX_ENST00000395603.3_Missense_Mutation_p.K730N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	768					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCGCCTGAGTCTTTAAATCAT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	156					0	0	1	0	0
SNRNP25	79622	broad.mit.edu	37	16	106598	106598	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:106598G>T	ENST00000383018.3	+	4	487	c.326G>T	c.(325-327)aGa>aTa	p.R109I		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	109	Ubiquitin-like.				mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						ACGGAAGACAGAAAGAAGCTC	0.597000													10	29					3.03607e-14	3.46023e-14	1	1	0
TWISTNB	221830	broad.mit.edu	37	7	19744489	19744489	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:19744489T>A	ENST00000222567.5	-	2	379	c.309A>T	c.(307-309)ggA>ggT	p.G103G		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	103						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CATAAATATCTCCAAGCTCTC	0.358000													10	188					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621532	31621532	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:31621532C>T	ENST00000379416.3	-	5	388	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	114					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCAGAACCCGCACTGGGAG	0.552000													3	127					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071988	131071988	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071988G>C	ENST00000372890.4	-	8	1170	c.837C>G	c.(835-837)atC>atG	p.I279M	TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	279					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TAGCATCCTGGATGTTGGTTA	0.622000													19	54					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812706	131812706	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr8:131812706C>A	ENST00000286355.5	-	15	5118	c.3026G>T	c.(3025-3027)cGc>cTc	p.R1009L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1009					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATTGAGCAAGCGCAGGCATTC	0.443000										HNSCC(32;0.087)			13	1049					0.0809354	0.0819933	1	1	0
EMB	133418	broad.mit.edu	37	5	49699039	49699039	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:49699039A>T	ENST00000303221.5	-	6	1065	c.850T>A	c.(850-852)Tac>Aac	p.Y284N	EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	284						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTGTGTGTACTTTTCACAA	0.343000													4	117					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750143	79750143	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:79750143C>T	ENST00000305428.3	+	2	1729	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	552						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTCTCAGCTCCATAAGTCAGA	0.512000													14	100					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577000													4	202					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:151640946A>T	ENST00000368843.3	+	7	1105		c.e7-1		SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site|SNX27_ENST00000368838.1_Splice_Site	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27						cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373000													8	181					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	42					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGTTGCTCTTATTTCAGTGGG	0.507000													7	299					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27254266	27254266	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:27254266G>A	ENST00000361042.4	+	7	860	c.635G>A	c.(634-636)gGc>gAc	p.G212D	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	211					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGAAAATGGGCATTGAGTTT	0.463000													4	104					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348049	140348049	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:140348049C>T	ENST00000289269.5	+	1	2230	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		566	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCCAACGTATATGTGG	0.537000													3	73					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99514268	99514268	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:99514268C>T	ENST00000378919.6	-	3	346	c.141G>A	c.(139-141)ccG>ccA	p.P47P	PGPEP1L_ENST00000535714.1_5'UTR|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	47					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACTTACTTGCGGCTGATGAT	0.592000													16	109					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183891355	183891355	+	Splice_Site	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:183891355G>T	ENST00000304685.3	+	18	2570		c.e18-1		RGL1_ENST00000536277.1_Splice_Site|RGL1_ENST00000367531.1_Splice_Site|RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000360851.3_Splice_Site	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGTCTTTGCAGTTGACGAGCC	0.512000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	82					0.014758	0.0150493	1	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668262	71668262	+	Silent	SNP	G	G	A	rs142821011	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:71668262G>A	ENST00000268485.3	+	3	806	c.762G>A	c.(760-762)aaG>aaA	p.K254K	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	254	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACGGGGAGAAGGCCCAGCAAC	0.582000													5	132					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74289224	74289224	+	Silent	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:74289224C>A	ENST00000253577.3	-	11	1458	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Silent_p.V477V|ABCB7_ENST00000339447.4_Silent_p.V437V	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	477	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTCAAAATGCACATTATCAA	0.468000													13	140					0.00244969	0.00256556	1	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													8	254					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72307604	72307604	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:72307604A>T	ENST00000550746.1	+	13	1415		c.e13-1		TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTCTTTTTAGGATATGTTC	0.353000													6	289					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433385	100433385	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:100433385G>A	ENST00000375147.3	+	23	2533	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	759					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAATAATCCAGCAGTACATGG	0.493000													6	362					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559001	67559001	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:67559001A>T	ENST00000371007.2	-	8	999	c.890T>A	c.(889-891)cTa>cAa	p.L297Q	C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	297										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTTCTTTAGTTTATCATC	0.343000													4	82					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196461	24196461	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:24196461C>T	ENST00000303531.7	+	14	1715	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PRKCB_ENST00000321728.7_Silent_p.S521S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	521	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATGGGAAGTCCGTGGATTGGT	0.453000													9	178					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725568	55725568	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:55725568A>T	ENST00000379667.1	+	1	84	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTCTTTTTATTTATCACGT	0.423000													7	301					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:117644000A>T	ENST00000369466.3	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299000													5	81					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710440	233710440	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:233710440A>T	ENST00000373566.3	+	27	3568		c.e27-1		GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTTTTGCTTTAGTAAATCTGT	0.358000													4	92					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:56090749G>A	ENST00000257880.7	-	13	2022	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000347027.6_Silent_p.A551A			Q13683	ITA7_HUMAN	integrin, alpha 7	601					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607000													8	109					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922535	17922535	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:17922535C>T	ENST00000318683.6	+	3	870	c.723C>T	c.(721-723)aaC>aaT	p.N241N	B3GNT3_ENST00000595387.1_Silent_p.N241N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	241					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGATCCAAAACGTGGGCCCCA	0.567000													36	36					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859904	52859904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:52859904G>A	ENST00000266041.4	-	6	853	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	253					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACCCACCTGAATGGAGCCC	0.552000													11	22					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597278	38597278	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:38597278C>A	ENST00000222345.6	+	7	2640	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	711	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGGCAGCAGGTCAGTGA	0.587000													11	109					0.00829132	0.0085677	1	1	0
RSL1D1	26156	broad.mit.edu	37	16	11935588	11935588	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:11935588T>G	ENST00000571133.1	-	7	891	c.819A>C	c.(817-819)gaA>gaC	p.E273D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	273					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTGGTGGCTTCATCCCAAT	0.373000													56	45					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767265	88767265	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:88767265T>A	ENST00000497649.2	+	6	1551	c.1173T>A	c.(1171-1173)aaT>aaA	p.N391K	MEPE_ENST00000560249.1_Missense_Mutation_p.N302K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.N415K|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000540395.1_Missense_Mutation_p.N302K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	415					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCATTCTAATAGGAACCAAG	0.388000													6	235					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19296004	19296004	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:19296004A>T	ENST00000307015.9	+	2	126		c.e2-1		DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000380432.2_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C							integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTACTCTTTAGGTATATGGA	0.358000													6	168					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248758	1248758	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:1248758G>T	ENST00000348261.5	+	6	1035	c.787G>T	c.(787-789)Gac>Tac	p.D263Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	263					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCTTCCTGGACAGTGCCTT	0.642000													4	16					0.00909568	0.00933663	1	1	0
MYH7	4625	broad.mit.edu	37	14	23894145	23894145	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:23894145G>A	ENST00000355349.3	-	22	2674	c.2512C>T	c.(2512-2514)Ccg>Tcg	p.P838S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	838					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCAGCGGCTTGATCTTG	0.562000													3	118					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787127	121787127	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:121787127G>A	ENST00000261367.7	+	12	4154	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G862E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	862					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGCCTTTTGGAGCCTTTCGA	0.463000													5	186					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93489267	93489267	+	Splice_Site	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:93489267G>A	ENST00000394196.4	+	12	2266		c.e12-1		CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site|CHD2_ENST00000557381.1_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						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)			ATATGAAATAGCTCATAGTCG	0.363000													3	83					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327137	77327137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:77327137G>A	ENST00000282849.5	-	20	3443	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1009	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCACCCCTCGTCCACAGGTC	0.488000													133	130					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527410	117527410	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:117527410G>A	ENST00000393203.2	+	8	2423	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	759	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACCACCTCCCGGAGGGACTGG	0.587000													5	195					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129761967	129761967	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:129761967A>T	ENST00000335420.5	+	5	838	c.704A>T	c.(703-705)cAc>cTc	p.H235L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	235										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACAGACCTGCACAAGTTAGAT	0.433000													30	179					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259000													4	51					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072072	131072072	+	Silent	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131072072G>C	ENST00000372890.4	-	8	1086	c.753C>G	c.(751-753)gtC>gtG	p.V251V	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.V195V	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	251					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CTTGGGTGCAGACAGCAGTGG	0.577000													20	86					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873803	66873803	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:66873803G>A	ENST00000269080.2	-	31	4073	c.3936C>T	c.(3934-3936)agC>agT	p.S1312S	ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1312	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCCTCCACCGCTCCCTTTCA	0.567000													5	106					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354556	42354556	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:42354556G>A	ENST00000596827.1	+	7	1018	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGGCAGAAGCGGGGGTTCCCA	0.612000													33	82					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:158988314C>A	ENST00000295809.7	+	5	1100	c.845C>A	c.(844-846)gCt>gAt	p.A282D	IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D|IFI16_ENST00000430894.2_Missense_Mutation_p.A230D			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338000													5	151					0.184627	0.184627	1	1	0
KPNA3	3839	broad.mit.edu	37	13	50279921	50279921	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:50279921T>A	ENST00000261667.3	-	15	1624		c.e15-2			NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTACTCAACCTAGACAACAAA	0.388000													5	96					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857602	96857602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:96857602A>T	ENST00000375360.3	+	6	798	c.458A>T	c.(457-459)tAc>tTc	p.Y153F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	153							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCCTAGTTTACTTCTACAAT	0.353000													6	229					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:100286421A>T	ENST00000395211.2	+	2	88		c.e2-1		TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453000													6	253					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350682	65350682	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:65350682G>A	ENST00000309295.4	+	9	2804	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	847	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACAGAGGTCGGGGGTTCAGG	0.552000													12	20					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097406	167097406	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:167097406G>T	ENST00000361200.2	+	6	3204	c.3038G>T	c.(3037-3039)aGg>aTg	p.R1013M	DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1013	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCTCCACCAGGGAGGGCAGA	0.552000													5	227					5.9392e-07	6.48293e-07	1	1	0
ZNF100	163227	broad.mit.edu	37	19	21910514	21910514	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:21910514A>T	ENST00000358296.6	-	5	798	c.600T>A	c.(598-600)acT>acA	p.T200T	ZNF100_ENST00000305570.6_Silent_p.T136T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTTCTTTCTAGTATGTCTTA	0.299000													5	110					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113801797	113801797	+	Silent	SNP	C	C	T	rs5959		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:113801797C>T	ENST00000375559.3	+	7	890	c.852C>T	c.(850-852)ttC>ttT	p.F284F	F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	284	Peptidase S1.				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)	CCAAGAGATTCAAGGTGAGGG	0.512000													10	29					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100961671	100961671	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:100961671C>T	ENST00000193391.7	-	14	3070	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	961	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCGACTGTTCACCACAATGC	0.433000													23	484					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299000													5	93					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071960	131071960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071960G>C	ENST00000372890.4	-	8	1198	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652000													24	62					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84384645	84384645	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:84384645A>T	ENST00000321945.7	-	8	905		c.e8+1		MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Splice_Site	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A						chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTGTTTACTTACTTGCTGCCT	0.368000													4	123					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													4	123					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215807719	215807719	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:215807719A>G	ENST00000272895.7	-	50	7585	c.7366T>C	c.(7366-7368)Tgt>Cgt	p.C2456R	ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2456	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACCTGGTACAGAGAGCTTCA	0.378000													5	159					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042151	242042151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:242042151G>T	ENST00000366548.3	+	13	2208	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	539					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAATCTGCATGAATCAGAGTA	0.408000								Editing and processing nucleases					5	157					1.23904e-05	1.33369e-05	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111632259	111632259	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:111632259C>A	ENST00000431670.2	+	3	1840	c.1429C>A	c.(1429-1431)Cag>Aag	p.Q477K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	477						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAAGATGTGCAGAAAATCAA	0.522000													35	582					1.36239e-07	1.49766e-07	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27436470	27436470	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:27436470A>T	ENST00000295736.5	-	19	2883	c.2813T>A	c.(2812-2814)aTa>aAa	p.I938K	SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	938						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTTCTGTTTATAATTACAGC	0.338000													4	132					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745667	30745667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:30745667G>T	ENST00000217315.5	+	14	1689	c.1349G>T	c.(1348-1350)gGc>gTc	p.G450V	TM9SF4_ENST00000398022.2_Missense_Mutation_p.G467V			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	467						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCTACTTGGGCTACTACTTC	0.592000													20	182					5.26018e-13	5.9513e-13	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048988	42048988	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:42048988C>T	ENST00000372584.1	-	3	2495	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCTGCGCCTGGACAG	0.587000													7	82					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													4	112					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511943	4511943	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:4511943G>A	ENST00000574733.1	-	6	1467	c.738C>T	c.(736-738)taC>taT	p.Y246Y	NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000404295.3_Silent_p.Y246Y|NMRAL1_ENST00000574425.1_Silent_p.Y246Y			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	246						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAAGCTTTTCGTAGTCCTCAG	0.647000													34	75					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157062456	157062456	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:157062456G>T	ENST00000454449.2	-	5	1355	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	357						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GAGGATCCAAGGGCCACACTG	0.572000													110	137					7.95947e-74	9.34635e-74	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	RNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343000													4	45					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228762944	228762944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:228762944A>T	ENST00000373666.2	+	6	1123	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000309931.2_Missense_Mutation_p.S163C					dynein assembly factor with WDR repeat domains 1																		TAAACTCTGGAGTGTGGAAAC	0.269000													3	66					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132561349	132561349	+	Splice_Site	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:132561349C>A	ENST00000265342.7	-	9	1427		c.e9+1		FSTL4_ENST00000507112.1_Splice_Site	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTTCTTACCTAAAAGGGA	0.453000													63	195					7.1157e-29	8.29273e-29	1	1	0
FAM161A	84140	broad.mit.edu	37	2	62067095	62067095	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:62067095A>T	ENST00000404929.1	-	3	1055	c.1044T>A	c.(1042-1044)taT>taA	p.Y348*	FAM161A_ENST00000405894.3_Nonsense_Mutation_p.Y348*	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	348					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTTTTTATACTTAAGAA	0.398000													6	209					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6882679	6882679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:6882679C>T	ENST00000307659.5	+	10	4629	c.4174C>T	c.(4174-4176)Cga>Tga	p.R1392*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1392							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTCTTTTCTCGAACTCATCT	0.458000													9	8					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:155533589T>A	ENST00000404648.3	-	2	318		c.e2-2		FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358000													6	252					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418235	122418235	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:122418235A>T	ENST00000474629.2	+	6	1101		c.e6-1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						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)		TTTCCTTTTAAGTGTTAGACA	0.338000													4	91					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998891	72998891	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr18:72998891C>A	ENST00000322038.5	+	2	1978	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A510D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	510						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGCCTGTGGCTGGCGACGCG	0.602000													3	82					6.4e-05	6.84138e-05	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135073688	135073688	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:135073688C>T	ENST00000393229.3	+	3	1325	c.549C>T	c.(547-549)cgC>cgT	p.R183R	NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	183	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)		GCCGGGCCCGCGACATGTCAT	0.672000													7	6					0	0	1	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079505	38079505	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:38079505G>A	ENST00000394169.1	-	5	1680	c.186C>T	c.(184-186)atC>atT	p.I62I	ORMDL3_ENST00000579695.1_Silent_p.I62I|ORMDL3_ENST00000304046.2_Silent_p.I62I|ORMDL3_ENST00000584220.1_Silent_p.I46I			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	62					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGTGCAGGAAGATATACATGC	0.562000													41	150					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967277	64967277	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:64967277G>A	ENST00000326648.3	+	4	2352	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCT	0.468000													7	405					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246629	216246629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:216246629G>T	ENST00000366943.2	-	28	5972	c.5586C>A	c.(5584-5586)tgC>tgA	p.C1862*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1862	Laminin G-like 2.				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)		CATCCTTCATGCAACCACCGA	0.433000										HNSCC(13;0.011)			5	100					1.23904e-05	1.33369e-05	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456330	5456330	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:5456330G>T	ENST00000222033.4	+	1	905	c.828G>T	c.(826-828)tgG>tgT	p.W276C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	276						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCACCTGTGGCTCTGGGCCC	0.652000													8	85					0.00829132	0.0085677	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79749003	79749003	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:79749003G>A	ENST00000305428.3	+	2	589	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	172						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTTTGTCCCTGCCTCTGAGCC	0.587000													7	108					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762827	140762827	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:140762827G>T	ENST00000518325.1	+	1	361	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTATAGACGTGGAAATAAT	0.413000													5	188					1.024e-07	1.13371e-07	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1062196	1062196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:1062196C>T	ENST00000263094.6	+	42	5827	c.5596C>T	c.(5596-5598)Cac>Tac	p.H1866Y	ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y|ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1866	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGCTGCGCACCTCAGCAT	0.667000													13	58					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	RNA	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:43433624G>A	ENST00000406070.2	-	0	775				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000													13	816					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63667482	63667482	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:63667482G>A	ENST00000402010.2	+	8	1247	c.668G>A	c.(667-669)gGc>gAc	p.G223D	MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	223	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTTCCAGGGCAAAAAATAT	0.502000													6	409					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25784983	25784983	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:25784983T>A	ENST00000374343.4	+	6	933	c.754T>A	c.(754-756)Tac>Aac	p.Y252N	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGATAGAATACCGAGAAAA	0.378000													4	115					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32132516	32132516	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:32132516T>A	ENST00000375250.5	-	7	1412		c.e7-2		ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000344936.2_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCATTATACTAAAACAAAAC	0.363000													5	57					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													6	162					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9008347	9008347	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:9008347T>A	ENST00000397910.4	-	41	39410		c.e41-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TTCTCAGACCTGGGGAAGGTA	0.537000													9	602					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134889767	134889767	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:134889767G>A	ENST00000292035.5	-	3	499	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MED27_ENST00000357028.2_Missense_Mutation_p.R108C|MED27_ENST00000372184.3_Missense_Mutation_p.R146C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTTGGTCTACGTTTGGCAGAT	0.428000													16	294					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072107	131072107	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131072107G>A	ENST00000372890.4	-	8	1051	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCGATTTCATGAACCAACTTC	0.572000													8	83					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203706	84203706	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622000													28	46					0	0	1	0	0
NTMT1	28989	broad.mit.edu	37	9	132396435	132396435	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:132396435A>G	ENST00000372486.1	+	3	614	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		AGAGGTGGATATGGTCGACAT	0.582000													6	78					0	0	1	0	0
MNAT1	4331	broad.mit.edu	37	14	61262989	61262989	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:61262989G>T	ENST00000261245.4	+	2	245	c.144G>T	c.(142-144)gaG>gaT	p.E48D	MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	48					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ACTGCCCTGAGTGTGGTACTC	0.403000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					7	181					0.00198382	0.00209178	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													4	79					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552000													5	177					0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39469185	39469185	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:39469185A>C	ENST00000261434.3	+	7	774	c.656A>C	c.(655-657)gAt>gCt	p.D219A	LIAS_ENST00000340169.2_Missense_Mutation_p.D219A|LIAS_ENST00000381846.1_Intron|LIAS_ENST00000513731.1_Missense_Mutation_p.D89A	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	219					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TTTCGAGGTGATCTCAAAGCA	0.388000													62	138					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	112					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358000													6	104					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1													p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373000													4	170					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799622	76799622	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:76799622G>A	ENST00000312010.6	-	16	2979	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	USP36_ENST00000542802.2_Silent_p.V885V|USP36_ENST00000449938.2_Silent_p.V490V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	885					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCTGCCGTCTGACAGCGGGCA	0.657000													5	48					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000													5	3					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378000													5	187					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488637	130488637	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:130488637G>A	ENST00000373289.3	+	10	1459	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	460							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TTTGGGGCCCGCCAGGATGTG	0.607000													2	5					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422422	47422422	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:47422422A>T	ENST00000404338.3	+	1	490	c.490A>T	c.(490-492)Att>Ttt	p.I164F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	164					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCTTCTTGGTATTGATGTTAG	0.448000													5	136					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974275	85974275	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:85974275G>A	ENST00000372117.3	+	17	2581	c.2478G>A	c.(2476-2478)ccG>ccA	p.P826P	CDHR1_ENST00000440770.2_Silent_p.P530P|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	826	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P826P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAACCCCCGCCAAAACCCA	0.582000													4	85					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303884	151303884	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:151303884G>C	ENST00000370323.4	-	4	525	c.209C>G	c.(208-210)aCc>aGc	p.T70S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	70										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTGGGGTGCTTGGTAT	0.532000													15	141					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607854	48607854	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:48607854C>A	ENST00000354276.3	-	4	575	c.248G>T	c.(247-249)gGa>gTa	p.G83V	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G83V	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	83	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAAGTGGATCCAGAGACCCC	0.498000													41	294					1.42923e-14	1.64096e-14	1	1	0
FOS	2353	broad.mit.edu	37	14	75746590	75746590	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:75746590C>T	ENST00000303562.4	+	2	361	c.152C>T	c.(151-153)aCg>aTg	p.T51M	FOS_ENST00000555686.1_5'UTR|FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M|FOS_ENST00000554617.1_Missense_Mutation_p.T51M	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	51					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GACTTCTGCACGGACCTGGCC	0.622000													3	135					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857597	96857597	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:96857597A>T	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1								protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTTTTCCTAGTTTACTTCT	0.358000													8	216					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111899895	111899895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:111899895C>T	ENST00000374581.3	-	5	874	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	292						integral to membrane											TATATCATGTCGAGTGATAGA	0.378000													23	180					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7568820	7568820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:7568820C>T	ENST00000379802.3	+	11	1758	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	473	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAACAAGATCAGGTGTGTAC	0.358000													75	68					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413000													4	79					0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8767075	8767075	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:8767075C>A	ENST00000543214.1	-	3	287	c.152G>T	c.(151-153)cGc>cTc	p.R51L	FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	51						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTCCTGCTGCGCTTCCTGCC	0.557000													10	40					0.000442599	0.000469883	1	1	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													4	81					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													7	479	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													11	230	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								8	173	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													26	338	---	---	---	---					
TXNIP	10628	broad.mit.edu	37	1	145440062	145440064	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145440062_145440064delAAG	ENST00000369317.4	+	4	830_832	c.496_498delAAG	c.(496-498)del	p.K167del	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	167					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAAAAGAAAAGAAAGTTTCCT	0.414													16	402	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	209	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													7	109	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				13	276	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													13	811	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													16	202	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													11	2377	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													15	1999	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													8	307	---	---	---	---					
LOC440700	440700	broad.mit.edu	37	1	165678269	165678269	+	RNA	DEL	T	T	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:165678269delT	ENST00000400982.2	+	0	612					NR_036683.1																						aaaaaaagaaTGTAGCTTATG	0.453													2	4	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													9	185	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													12	685	---	---	---	---					
F5	2153	broad.mit.edu	37	1	169511225	169511226	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:169511225_169511226insT	ENST00000367796.3	-	13	3318_3319	c.3117_3118insA	c.(3115-3120)aaagaafs	p.E1040fs	F5_ENST00000367797.3_Frame_Shift_Ins_p.E1035fs			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1035	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGTGCTTCTCTTTTTTCTTTT	0.391													9	1309	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				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						TTGTGTGTAATCCCCCCCAGTG	0.470													27	529	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)caafs	p.Q512fs	ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	512	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML								7	293	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186022084	186022085	+	Splice_Site	INS	-	-	C	rs150287374		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:186022084_186022085insC	ENST00000271588.4	+	43	6807_6808	c.6577_splice	c.e43-1	p.A2193_splice	HMCN1_ENST00000367492.2_Splice_Site_p.A2193_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2193					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTTTCTAGTCCCCCCAAATA	0.342													8	207	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													8	462	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													11	395	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													7	605	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													9	769	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													10	158	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													19	491	---	---	---	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)			9	244	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	477	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													15	215	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	RNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs112549370		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426													4	3	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)cgtfs	p.R778fs	ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554													10	131	---	---	---	---					
MOGS	7841	broad.mit.edu	37	2	74690034	74690035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:74690034_74690035insG	ENST00000233616.4	-	4	1043_1044	c.881_882insC	c.(880-882)cgafs	p.R294fs	MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGTAGCGTTCAGGGGGGGCCCC	0.584													13	267	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													9	325	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													14	199	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.318_splice	c.e6-1	p.L107_splice	OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361													8	217	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													14	278	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	66	---	---	---	---					
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)gggfs	p.G558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505													7	354	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	622	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													13	100	---	---	---	---					
WDR48	57599	broad.mit.edu	37	3	39130740	39130741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:39130740_39130741insG	ENST00000302313.5	+	16	1627_1628	c.1599_1600insG	c.(1597-1602)tcggggfs	p.SG533fs	WDR48_ENST00000396258.3_Frame_Shift_Ins_p.SG451fs|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Frame_Shift_Ins_p.SG258fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	533					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.G534W(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCGAGATTCCGGGGGTGAGAC	0.436													13	624	---	---	---	---					
ZKSCAN7	55888	broad.mit.edu	37	3	44612370	44612375	+	In_Frame_Del	DEL	CAGAAC	CAGAAC	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:44612370_44612375delCAGAAC	ENST00000273320.3	+	6	2197_2202	c.1768_1773delCAGAAC	c.(1768-1773)del	p.QN590del	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		AGCCTTCAATCAGAACTCTCAACTCA	0.427													8	421	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													16	235	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													16	155	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													8	609	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													10	157	---	---	---	---					
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)ccgtgtfs	p.C1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535													9	443	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)ggafs	p.G380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.500													10	467	---	---	---	---					
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(133-138)ccccccfs	p.PP45fs	TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	45	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614													7	161	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													10	157	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										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)			TGGTTACAATTGGGGGGAATCT	0.381													10	373	---	---	---	---					
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)ccaaaafs	p.PK272fs	UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396													7	436	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													10	102	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													8	371	---	---	---	---					
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:27019446_27019447insC	ENST00000382009.3	+	12	2155_2156	c.1888_1889insC	c.(1888-1890)cccfs	p.P630fs	STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619													8	665	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1842)cggfs	p.R614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401													7	120	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													13	160	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					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)		GAGGTCATCTTGGGGGGTGACA	0.505													23	575	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100265826	100265827	+	RNA	INS	-	-	AACTC	rs138852664	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:100265826_100265827insAACTC	ENST00000515683.1	-	0	919				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TACATTTTCTTAACAAGTTTTT	0.297													2	4	---	---	---	---					
TRAM1L1	133022	broad.mit.edu	37	4	118006513	118006514	+	Frame_Shift_Ins	INS	-	-	G	rs113650718	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:118006513_118006514insG	ENST00000310754.4	-	1	222_223	c.36_37insC	c.(34-39)ccttctfs	p.S13fs		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	13					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCTGAGAACGGGGGGGTTCT	0.619													9	187	---	---	---	---					
QRFPR	84109	broad.mit.edu	37	4	122301461	122301462	+	Splice_Site	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:122301461_122301462insC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor							plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGCGACTCTTACCCCCCAGCCA	0.540													7	283	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													7	771	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													11	564	---	---	---	---					
SH3RF1	57630	broad.mit.edu	37	4	170057550	170057551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:170057550_170057551insG	ENST00000284637.9	-	5	1327_1328	c.986_987insC	c.(985-987)cgtfs	p.R329fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	329						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGAT	0.569													8	277	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													12	300	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													9	537	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													30	241	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													8	236	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													17	200	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	304	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													8	237	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													18	450	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													13	158	---	---	---	---					
EDIL3	10085	broad.mit.edu	37	5	83360606	83360607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:83360606_83360607insG	ENST00000296591.5	-	8	1282_1283	c.864_865insC	c.(862-867)cctaaafs	p.K289fs	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.K279fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	289	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391													10	387	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													8	513	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	743	---	---	---	---					
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:135207263_135207264insG	ENST00000274513.5	+	5	707_708	c.535_536insG	c.(535-537)gggfs	p.G179fs	SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604													7	297	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(991-996)acccccfs	p.TP331fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649													8	119	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													13	229	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													9	641	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.G183fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.G443fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCAGATGACCACCCCCAAATTG	0.609													8	1495	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													10	732	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													11	813	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													7	502	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													8	190	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													14	185	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													12	273	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	218	---	---	---	---					
LINC00271	100131814	broad.mit.edu	37	6	135853877	135853878	+	RNA	DEL	AA	AA	-	rs13218668		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:135853877_135853878delAA	ENST00000421378.2	+	0	147					NR_026805.1																						gaggaaaaagaagaggaagagg	0.500													5	3	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													9	181	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)agafs	p.R626fs	OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCTGTTCTGAAAAAAACTGG	0.421													13	709	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	244	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													8	447	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													11	467	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													10	219	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								21	396	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													12	2635	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569													9	341	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													10	269	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345611	100345611	+	RNA	DEL	A	A	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100345611delA	ENST00000542585.1	+	0	1171				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			caagactctgaaaaaaaaaaa	0.502													2	4	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2772)gaafs	p.E924fs		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGATACTGCAAAAAAACATG	0.351													8	406	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													9	1308	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													9	505	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)ccatgtfs	p.C525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609													8	171	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													8	610	---	---	---	---					
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)cccfs	p.P801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525													7	308	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													9	246	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733777	81733778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:81733777_81733778insT	ENST00000327835.3	-	2	283_284	c.52_53insA	c.(52-54)gtcfs	p.V18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTGATGAGACATTTTTTTACCA	0.421													7	798	---	---	---	---					
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)agafs	p.R23fs	CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455													8	238	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													8	195	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													7	679	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													7	435	---	---	---	---					
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)ccagtcfs	p.V165fs	FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644													9	75	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35092522	35092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:35092522_35092523insC	ENST00000378617.3	-	7	1755_1756	c.1361_1362insG	c.(1360-1362)gacfs	p.D454fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.D454fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCAT	0.594													7	355	---	---	---	---					
SPAG8	26206	broad.mit.edu	37	9	35809952	35809953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:35809952_35809953insC	ENST00000484764.1	-	7	1456_1457	c.1416_1417insG	c.(1414-1419)gggaatfs	p.N473fs	SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.N481fs			Q99932	SPAG8_HUMAN	sperm associated antigen 8	0						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGTCATTCTCCCCCCTCCAC	0.505													7	376	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													13	288	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													13	676	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													16	695	---	---	---	---					
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)gttfs	p.V277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564													7	283	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				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)	GGTGTGGTTCTGGGGGGCTGTG	0.450													8	535	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:24832466_24832467insC	ENST00000376451.2	+	14	3576_3577	c.3316_3317insC	c.(3316-3318)cccfs	p.P1106fs	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1423					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAGAGATGACCCCCCGACAA	0.495													8	367	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													10	280	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													9	509	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								10	602	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													12	435	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													28	665	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													7	606	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													18	532	---	---	---	---					
IKZF5	64376	broad.mit.edu	37	10	124754014	124754015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:124754014_124754015insC	ENST00000368886.5	-	5	861_862	c.541_542insG	c.(541-543)tttfs	p.F181fs	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTTCTGTAAAACCCCCCACATT	0.426													7	307	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													7	183	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													15	1003	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				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)		AGGTAAAAAGTGGGGGGCTGTT	0.604													10	500	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(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)		CTGGGCCCTCCGGGGGGGTGAA	0.589													10	198	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)gtcfs	p.V968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.480													8	866	---	---	---	---					
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:13398236_13398237insC	ENST00000389708.3	+	16	1825_1826	c.1470_1471insC	c.(1468-1473)caccccfs	p.HP490fs	ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAGC	0.584													9	470	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30032939	30032940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:30032939_30032940insC	ENST00000328224.6	-	2	2519_2520	c.1286_1287insG	c.(1285-1287)gggfs	p.G429fs		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	429						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		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						GACCATTGCCACCCCCCTGTTG	0.500													7	474	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	543	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													42	891	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													8	460	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													8	827	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													12	222	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					11	465	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	594	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													11	150	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													9	206	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													7	109	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								7	332	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													9	205	---	---	---	---					
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:88258517_88258518insG	ENST00000418177.2	-	9	3052_3053	c.2685_2686insC	c.(2683-2688)ccaaggfs	p.R896fs	GRM5_ENST00000455756.2_Intron|GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs|GRM5_ENST00000305432.5_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATACTCCCTTTGGGGGTGAAAC	0.485													7	1319	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													14	351	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													8	784	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		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)		AGCGCTGGACGCCCCCCTCTTT	0.589													8	849	---	---	---	---					
OR8B4	283162	broad.mit.edu	37	11	124294593	124294594	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:124294593_124294594insG	ENST00000356130.3	-	1	195_196	c.174_175insC	c.(172-177)cctgtafs	p.V59fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAAAGTACATGGGGGTGTGAA	0.411													8	1545	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													9	116	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													13	277	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													18	498	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1206)cggfs	p.R402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGATTGTGCTGGGGGGCGTCG	0.629													7	349	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													7	461	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													25	791	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													13	198	---	---	---	---					
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)gggfs	p.G265fs	AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579													11	86	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													12	1917	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)cggfs	p.R78fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	78					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGACCCCCTGGGGGGCCATG	0.559													7	388	---	---	---	---					
PA2G4	5036	broad.mit.edu	37	12	56504194	56504194	+	Frame_Shift_Del	DEL	A	A	-	rs34197050		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56504194delA	ENST00000303305.6	+	8	1060	c.641delA	c.(640-642)gafs	p.E214fs	PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	214					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAGGACCATGAAAAAGCTGAA	0.443													53	117	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					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						CAGGGGGCCTTGGGGGGGTTGG	0.594													17	308	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)cgafs	p.R299fs	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.490			T	BCL6	NHL								7	91	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													34	669	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													9	1029	---	---	---	---					
E2F7	144455	broad.mit.edu	37	12	77419716	77419717	+	Frame_Shift_Ins	INS	-	-	G	rs36042830		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:77419716_77419717insG	ENST00000322886.7	-	12	2421_2422	c.2186_2187insC	c.(2185-2187)cacfs	p.H729fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	729					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCCCACAGTAGGGGGGGTTTG	0.465													7	95	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			7	216	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													9	209	---	---	---	---					
NT5DC3	51559	broad.mit.edu	37	12	104171648	104171649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:104171648_104171649insG	ENST00000392876.3	-	14	1645_1646	c.1605_1606insC	c.(1603-1608)ccccttfs	p.L536fs		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	536							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTCCGAAGGTGGGGGGCCTTT	0.594													7	199	---	---	---	---					
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:112130538_112130539insC	ENST00000455480.2	+	2	202_203	c.25_26insC	c.(25-27)cccfs	p.P9fs	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619													7	490	---	---	---	---					
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:113565942_113565943insC	ENST00000546530.1	-	4	448_449	c.163_164insG	c.(163-165)ggafs	p.G55fs	RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614													10	971	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	713	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													7	234	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													22	301	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					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)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					7	242	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													73	1905	---	---	---	---					
FLT1	2321	broad.mit.edu	37	13	29041261	29041262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:29041261_29041262insC	ENST00000282397.4	-	3	417_418	c.166_167insG	c.(166-168)agcfs	p.S56fs	FLT1_ENST00000541932.1_Frame_Shift_Ins_p.S56fs|FLT1_ENST00000539099.1_Frame_Shift_Ins_p.S56fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	56	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATGGGCTGCTTCCCCCCTGCAA	0.455													11	359	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)ccaaagfs	p.PK121fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	121						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366													12	248	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													13	283	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													7	806	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			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)		TGATATCTGCTGGGGGGAGGGA	0.436													7	482	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-15)tccfs	p.S5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436													7	272	---	---	---	---					
ATP11A	23250	broad.mit.edu	37	13	113487269	113487270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:113487269_113487270insG	ENST00000487903.1	+	14	1579_1580	c.1491_1492insG	c.(1489-1494)gaggggfs	p.EG497fs	ATP11A_ENST00000283558.8_Frame_Shift_Ins_p.EG497fs|ATP11A_ENST00000375630.2_Frame_Shift_Ins_p.EG497fs|ATP11A_ENST00000375645.3_Frame_Shift_Ins_p.EG497fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	497					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AATCGCCGGACGGGGGGAAATC	0.619													7	349	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													9	1349	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													14	598	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													8	165	---	---	---	---					
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)gacfs	p.D437fs	RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505													11	979	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													9	371	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36226074	36226075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:36226074_36226075insG	ENST00000258840.6	-	7	977_978	c.587_588insC	c.(586-588)ccafs	p.P196fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGATTGTGGGGGGACAAG	0.317													9	365	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)gggfs	p.G119fs	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.490													14	407	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													12	182	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													57	175	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:31362390_31362391insG	ENST00000542188.1	-	3	486_487	c.173_174insC	c.(172-174)cctfs	p.P58fs	TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	19					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505													10	1142	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1860)tccfs	p.S620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCCTGCCCTGCCCCCCACGCT	0.569													8	430	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42731523	42731524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:42731523_42731524insC	ENST00000263805.4	-	8	4508_4509	c.4182_4183insG	c.(4180-4185)ggaagtfs	p.S1395fs	ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.S580fs|ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.S623fs	NM_022473.1	NP_071918.1			zinc finger protein 106																		GTTGTTACTTTCCCCCCTTTAA	0.465													13	747	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													7	128	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	537	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccagafs	p.R872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663													8	83	---	---	---	---					
SCAMP5	192683	broad.mit.edu	37	15	75311153	75311154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:75311153_75311154insG	ENST00000361900.6	+	8	744_745	c.537_538insG	c.(535-540)agggggfs	p.RG179fs	SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.RG112fs|SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.RG108fs|SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.RG179fs|SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.RG187fs	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	179					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACCGGGGAAGTGGGGGGAGTTT	0.530													7	256	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													7	316	---	---	---	---					
PCSK6	5046	broad.mit.edu	37	15	101938609	101938610	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:101938609_101938610insT	ENST00000348070.1	-	8	991_992	c.993_splice	c.e8+1	p.R331_splice	PCSK6_ENST00000398181.2_Splice_Site_p.R331_splice|PCSK6_ENST00000331826.7_Splice_Site_p.R166_splice|PCSK6_ENST00000344273.2_Splice_Site_p.R331_splice|PCSK6_ENST00000358417.3_Splice_Site_p.R331_splice|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGCC	0.554													10	584	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													11	813	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													8	311	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)cctfs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGTT	0.460													8	521	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)gctfs	p.A1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569													16	568	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													10	100	---	---	---	---					
SCNN1G	6340	broad.mit.edu	37	16	23226709	23226710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:23226709_23226710insC	ENST00000300061.2	+	13	2012_2013	c.1869_1870insC	c.(1867-1872)ccccccfs	p.PP623fs		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	623					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCGGCACACCGCCCCCCAAATA	0.559													9	205	---	---	---	---					
AQP8	343	broad.mit.edu	37	16	25232874	25232875	+	Frame_Shift_Ins	INS	-	-	G	rs141164855		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:25232874_25232875insG	ENST00000219660.5	+	3	482_483	c.357_358insG	c.(355-360)ctggggfs	p.LG119fs	AQP8_ENST00000566125.1_Frame_Shift_Ins_p.LG113fs	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	119					cellular response to cAMP	integral to plasma membrane	water channel activity	p.M122fs*10(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGCT	0.629													7	179	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													7	772	---	---	---	---					
ITGAM	3684	broad.mit.edu	37	16	31308913	31308914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:31308913_31308914insC	ENST00000544665.3	+	13	1506_1507	c.1435_1436insC	c.(1435-1437)cccfs	p.P479fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	479					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTCATCGGGGCCCCCCATTAC	0.673													7	344	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)cccfs	p.P479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649													8	716	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													8	101	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58581467	58581468	+	Splice_Site	DEL	CA	CA	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:58581467_58581468delCA	ENST00000317147.5	-	26	3972		c.e26+1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATGAAACTCACAGTGTGTAA	0.356													33	68	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													13	306	---	---	---	---					
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:68021467_68021468insG	ENST00000412757.2	-	12	2067_2068	c.1402_1403insC	c.(1402-1404)catfs	p.H468fs	DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545													20	1123	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													7	1050	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													7	143	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													8	221	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													7	621	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													8	151	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													11	117	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	585	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)gggfs	p.G141fs	TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCCCGTGCCACCCCCCAGCGA	0.649													9	226	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													30	484	---	---	---	---					
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cccfs	p.P402fs	CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	402					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACGCAGGAGGGGGGTTTGG	0.500													8	777	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													10	519	---	---	---	---					
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)gcgfs	p.A354fs	ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639													7	61	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													9	207	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	651	---	---	---	---					
ASF1B	55723	broad.mit.edu	37	19	14232287	14232288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:14232287_14232288insC	ENST00000474890.1	-	3	575_576	c.458_459insG	c.(457-459)ggtfs	p.G153fs	ASF1B_ENST00000263382.3_Intron|ASF1B_ENST00000592798.1_Intron			Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	0	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						ATGGCTGAACTCCCCCCAAGTA	0.470													7	112	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													17	274	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													19	523	---	---	---	---					
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)cccfs	p.P504fs	CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCTCCAGATGCCCCCCGAGAC	0.619													7	182	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:42866542_42866543insC	ENST00000334370.4	+	33	6285_6286	c.5650_5651insC	c.(5650-5652)cccfs	p.P1884fs	MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614													11	215	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													17	1049	---	---	---	---					
XRCC1	7515	broad.mit.edu	37	19	44057791	44057792	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:44057791_44057792insG	ENST00000262887.5	-	5	1005_1006	c.458_459insC	c.(457-459)cgafs	p.R153fs	XRCC1_ENST00000543982.1_Frame_Shift_Ins_p.R122fs|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	153					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATCTTTGTCTGGGGGGCTATG	0.629								Other BER factors					7	170	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	169	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													15	291	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:49589711_49589712insC	ENST00000221448.5	+	2	236_237	c.40_41insC	c.(40-42)cccfs	p.P14fs	SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.540													7	596	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554													10	674	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)caafs	p.Q681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609													8	429	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													14	678	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													7	686	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53644530	53644530	+	Frame_Shift_Del	DEL	T	T	-	rs140272621		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:53644530delT	ENST00000452676.2	-	5	1980	c.1554delA	c.(1552-1554)gafs	p.E518fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.E517fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.398													20	341	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													7	122	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													7	104	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													18	306	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													9	207	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													12	169	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													16	306	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													7	305	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													8	475	---	---	---	---					
ARFGEF2	10564	broad.mit.edu	37	20	47614920	47614921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:47614920_47614921insC	ENST00000371917.4	+	25	3310_3311	c.3310_3311insC	c.(3310-3312)cccfs	p.P1104fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1104					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAACTGGCTTCCCCCCACCAT	0.505													8	473	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													21	196	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs7410785		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1																						ATACAGGTTTTCCCCCCCCACC	0.406													26	144	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													11	403	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													12	252	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2193)cccfs	p.P731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	731							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	212	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)cccfs	p.P432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.520													14	300	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													18	513	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													32	867	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													16	337	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													8	402	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73960933	73960934	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:73960933_73960934insT	ENST00000373468.1	-	3	4109_4110	c.3458_3459insA	c.(3457-3459)accfs	p.T1153fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.T1153fs			Q5QGS0	K2022_HUMAN	KIAA2022	1153					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAGGCAAGGGTTTTTTTGGAG	0.401													7	216	---	---	---	---					
TXNIP	10628	broad.mit.edu	37	1	145440062	145440064	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:145440062_145440064delAAG	ENST00000369317.4	+	4	830_832	c.496_498delAAG	c.(496-498)del	p.K167del	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	167					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAAAAGAAAAGAAAGTTTCCT	0.414													16	402	---	---	---	---					
TRIM46	80128	broad.mit.edu	37	1	155148403	155148404	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:155148403_155148404insC	ENST00000392451.2	+	3	448_449	c.365_366insC	c.(364-366)cccfs	p.P122fs	TRIM46_ENST00000368383.3_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000545012.1_5'UTR|TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.P99fs|TRIM46_ENST00000543729.1_Frame_Shift_Ins_p.P129fs|TRIM46_ENST00000368385.4_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000334634.4_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000468878.1_3'UTR			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	122						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTGCTTTGCACCCCCAAGTGA	0.614													8	678	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)caafs	p.Q512fs	ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	512	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML								7	293	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													11	657	---	---	---	---					
ZKSCAN7	55888	broad.mit.edu	37	3	44612370	44612375	+	In_Frame_Del	DEL	CAGAAC	CAGAAC	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:44612370_44612375delCAGAAC	ENST00000273320.3	+	6	2197_2202	c.1768_1773delCAGAAC	c.(1768-1773)del	p.QN590del	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		AGCCTTCAATCAGAACTCTCAACTCA	0.427													8	421	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													8	609	---	---	---	---					
SH3RF1	57630	broad.mit.edu	37	4	170057550	170057551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:170057550_170057551insG	ENST00000284637.9	-	5	1327_1328	c.986_987insC	c.(985-987)cgtfs	p.R329fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	329						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGAT	0.569													8	277	---	---	---	---					
LINC00271	100131814	broad.mit.edu	37	6	135836858	135836859	+	RNA	DEL	CT	CT	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:135836858_135836859delCT	ENST00000421378.2	+	0	147					NR_026805.1																						ctctctcttgctctctctctct	0.356													2	4	---	---	---	---					
EIF4H	7458	broad.mit.edu	37	7	73609131	73609132	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:73609131_73609132insC	ENST00000265753.8	+	6	669_670	c.530_531insC	c.(529-531)gccfs	p.A177fs	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.A157fs	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	177					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						CGGCGAACAGGCCCCCCCATGG	0.569													8	90	---	---	---	---					
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:88258517_88258518insG	ENST00000418177.2	-	9	3052_3053	c.2685_2686insC	c.(2683-2688)ccaaggfs	p.R896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATACTCCCTTTGGGGGTGAAAC	0.485													7	1319	---	---	---	---					
RP11-469N6.1	0	broad.mit.edu	37	11	134614688	134614689	+	RNA	DEL	GA	GA	-	rs58784206		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:134614688_134614689delGA	ENST00000513405.1	+	0	947																											gagggaatgggagagagagaca	0.545													2	4	---	---	---	---					
PA2G4	5036	broad.mit.edu	37	12	56504194	56504194	+	Frame_Shift_Del	DEL	A	A	-	rs34197050		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:56504194delA	ENST00000303305.6	+	8	1060	c.641delA	c.(640-642)gafs	p.E214fs	PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	214					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAGGACCATGAAAAAGCTGAA	0.443													53	117	---	---	---	---					
NT5DC3	51559	broad.mit.edu	37	12	104171648	104171649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:104171648_104171649insG	ENST00000392876.3	-	14	1645_1646	c.1605_1606insC	c.(1603-1608)ccccttfs	p.L536fs		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	536							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTCCGAAGGTGGGGGGCCTTT	0.594													7	199	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)ccaaagfs	p.PK121fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	121						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366													12	248	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													9	1349	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													7	128	---	---	---	---					
PML	5371	broad.mit.edu	37	15	74328247	74328248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:74328247_74328248insC	ENST00000268059.6	+	8	2541_2542	c.2445_2446insC	c.(2443-2448)agccccfs	p.SP815fs	PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Frame_Shift_Ins_p.SP767fs|PML_ENST00000268058.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCCAGAAAGGCCCCCCATCAG	0.629			T	"""RARA, PAX5"""	"""APL, ALL"""								9	297	---	---	---	---					
PCSK6	5046	broad.mit.edu	37	15	101938609	101938610	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:101938609_101938610insT	ENST00000348070.1	-	8	991_992	c.993_splice	c.e8+1	p.R331_splice	PCSK6_ENST00000358417.3_Splice_Site_p.R331_splice|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Splice_Site_p.R331_splice|PCSK6_ENST00000398181.2_Splice_Site_p.R331_splice|PCSK6_ENST00000331826.7_Splice_Site_p.R166_splice	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGCC	0.554													10	584	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58581467	58581468	+	Splice_Site	DEL	CA	CA	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:58581467_58581468delCA	ENST00000317147.5	-	26	3972		c.e26+1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATGAAACTCACAGTGTGTAA	0.356													33	68	---	---	---	---					
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1773)caafs	p.Q591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411													8	396	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53644530	53644530	+	Frame_Shift_Del	DEL	T	T	-	rs140272621		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:53644530delT	ENST00000452676.2	-	5	1980	c.1554delA	c.(1552-1554)gafs	p.E518fs	ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.E517fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.398													20	341	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889825	58889826	+	RNA	INS	-	-	CCAT			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:58889825_58889826insCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						catccatcctcccatcctccca	0.569													2	4	---	---	---	---					
