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
NBAS	51594	broad.mit.edu	37	2	15417095	15417095	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:15417095C>T	ENST00000281513.5	-	43	5294	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1637K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1757										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCAGCCTTTCGTGATCAAAG	0.438000													12	41					0	0	0.013537	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	78					0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40360623	40360623	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:40360623C>T	ENST00000338305.6	-	3	1971	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	477	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTTGACCACGAAGGCCTTG	0.597000													3	34					0	0	0.004672	0	0
TEX14	56155	broad.mit.edu	37	17	56676800	56676800	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:56676800T>C	ENST00000389934.3	-	14	2023	c.1906A>G	c.(1906-1908)Ata>Gta	p.I636V	TEX14_ENST00000240361.8_Missense_Mutation_p.I642V|TEX14_ENST00000349033.5_Missense_Mutation_p.I636V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	642						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTCTTCTATGTCATCTTCC	0.502000													18	77					0	0	0.004990	0	0
KMT2D	8085	broad.mit.edu	37	12	49420564	49420564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:49420564C>A	ENST00000301067.7	-	48	15184	c.15185G>T	c.(15184-15186)tGt>tTt	p.C5062F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAAAGGGCACAGTTGAGGTG	0.617000													19	91					2.4624e-09	3.20684e-09	0.008871	1	0
TMTC4	84899	broad.mit.edu	37	13	101289875	101289875	+	Missense_Mutation	SNP	G	G	A	rs141063052		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:101289875G>A	ENST00000342624.5	-	9	1174	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	TMTC4_ENST00000328767.5_Missense_Mutation_p.R176C|TMTC4_ENST00000376234.3_Missense_Mutation_p.R287C|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	287						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCTCCAGCGCACGTAGAGC	0.627000													10	126					0	0	0.006214	0	0
ADCY9	115	broad.mit.edu	37	16	4164292	4164292	+	Silent	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164292A>G	ENST00000294016.3	-	2	1690	c.1152T>C	c.(1150-1152)ccT>ccC	p.P384P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	384					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCATCTTAAAAGGGCGGAAGG	0.488000													3	133					0	0	0.004672	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695588	48695588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48695588G>A	ENST00000352832.5	+	30	5581	c.5209G>A	c.(5209-5211)Gac>Aac	p.D1737N	CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1771N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1737N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1726N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1726N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1714N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1737N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1746N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1764N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1719N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1778N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1748N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1737N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1748N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1730N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1737N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1771N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1753N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1753N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1771					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAGAGTGTGACGAGACACA	0.622000													22	66					0	0	0.012319	0	0
NLRC4	58484	broad.mit.edu	37	2	32477515	32477515	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:32477515G>A	ENST00000404025.2	-	4	723	c.235C>T	c.(235-237)Cct>Tct	p.P79S	NLRC4_ENST00000342905.6_Missense_Mutation_p.P79S|NLRC4_ENST00000402280.1_Missense_Mutation_p.P79S|NLRC4_ENST00000360906.5_Missense_Mutation_p.P79S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	79	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.P79S(1)|p.P79T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAATAGAGGATAGTTCCAC	0.413000													9	62					0	0	0.008291	0	0
TPTE2	93492	broad.mit.edu	37	13	20041462	20041462	+	Silent	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:20041462A>G	ENST00000400230.2	-	7	459	c.415T>C	c.(415-417)Tta>Cta	p.L139L	TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Silent_p.L139L|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	139						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTTAAATAAGTCAGAAAAA	0.303000													8	28					0	0	0.003080	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	28					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152832220	152832220	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:152832220T>A	ENST00000367255.5	-	7	929	c.328A>T	c.(328-330)Aac>Tac	p.N110Y	SYNE1_ENST00000367253.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.N110Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.N117Y|SYNE1_ENST00000466159.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.N117Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.N117Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	110	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGGTGGAGTTAATGTTGACT	0.328000										HNSCC(10;0.0054)			32	109					0	0	0.012213	0	0
NLRP14	338323	broad.mit.edu	37	11	7059962	7059962	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:7059962G>A	ENST00000299481.4	+	2	491	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	49	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACCCTGGAATGAAGTGAAGAA	0.438000													10	85					0	0	0.008291	0	0
SOCS3	9021	broad.mit.edu	37	17	76354904	76354904	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:76354904C>T	ENST00000330871.2	-	2	688	c.273G>A	c.(271-273)aaG>aaA	p.K91K		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	91	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGCGCAGGTTCTTGGTCCCAG	0.657000													7	35					0	0	0.001984	0	0
SSH1	54434	broad.mit.edu	37	12	109201543	109201543	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:109201543G>A	ENST00000326495.5	-	8	690	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SSH1_ENST00000326470.5_Silent_p.P210P|SSH1_ENST00000551165.1_Silent_p.P199P|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	199					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACCCCCGGGGAAGTAGT	0.612000													25	68					0	0	0.003330	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	7					0	0	0.001855	0	0
MIR363	574031	broad.mit.edu	37	X	133303463	133303463	+	RNA	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:133303463T>A	ENST00000384840.1	-	0	19					NR_029852.1																						CAAAATTGCATCGTGATCCAC	0.383000													22	29					0	0	0.014323	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882464	144882464	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:144882464G>A	ENST00000369359.4	-	27	4004	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.F1185F|PDE4DIP_ENST00000369356.4_Silent_p.F1185F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.F1322F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1185					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATCCACTGTGAAGGTAGCCC	0.502000			T	PDGFRB	MPD								7	107					0	0	0.001984	0	0
PRAF2	11230	broad.mit.edu	37	X	48931479	48931479	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:48931479G>A	ENST00000376390.4	-	1	251	c.168C>T	c.(166-168)ctC>ctT	p.L56L	WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Silent_p.L56L	NM_007213.1	NP_009144.1			PRA1 domain family, member 2									p.L56L(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						CGGCGAGAGCGAGGCCGATGC	0.647000													19	24					0	0	0.007413	0	0
GPSM2	29899	broad.mit.edu	37	1	109446790	109446790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:109446790C>G	ENST00000406462.1	+	11	1879	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Nonsense_Mutation_p.S369*			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	369					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTAATCTCTCAGACCTTCAA	0.348000													7	40					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152286300	152286300	+	Silent	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:152286300T>C	ENST00000368799.1	-	3	1097	c.1062A>G	c.(1060-1062)agA>agG	p.R354R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	354	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGATTGTCTGGAGCTGT	0.552000									Ichthyosis				4	465					0	0	0.009096	0	0
GALNT15	117248	broad.mit.edu	37	3	16216900	16216900	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:16216900T>C	ENST00000339732.5	+	1	745	c.242T>C	c.(241-243)cTg>cCg	p.L81P	GALNT15_ENST00000437509.1_Missense_Mutation_p.L81P	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TACAGCCCTCTGGAGGGCCTG	0.617000													4	64					0	0	0.001168	0	0
ATP1A2	477	broad.mit.edu	37	1	160109515	160109515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:160109515C>T	ENST00000361216.3	+	21	3015	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R976C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	976					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGCCCTCCGCATGTACCC	0.557000													18	47					0	0	0.006122	0	0
TRPM2	7226	broad.mit.edu	37	21	45859044	45859044	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:45859044G>T	ENST00000397928.1	+	30	4707	c.4262G>T	c.(4261-4263)gGc>gTc	p.G1421V	TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421V|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471V|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAAGTGCGGCATGGAGGTA	0.602000													7	31					0.000157383	0.000192996	0.003080	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74639688	74639688	+	Silent	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:74639688C>G	ENST00000156626.7	-	1	232	c.33G>C	c.(31-33)ctG>ctC	p.L11L	ST6GALNAC1_ENST00000589992.1_Silent_p.L11L|ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	11					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGCCTTGGCTCAGGTGCCTGC	0.562000													6	28					0	0	0.001984	0	0
MUC5B	727897	broad.mit.edu	37	11	1271810	1271810	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:1271810C>A	ENST00000447027.1	+	31	13767	c.13709C>A	c.(13708-13710)gCc>gAc	p.A4570D	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4567D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTTACCGCCACGGCCACC	0.647000													83	240					4.18771e-30	5.67367e-30	0.014410	1	0
CLCNKA	1187	broad.mit.edu	37	1	16359665	16359665	+	Splice_Site	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:16359665G>A	ENST00000375692.1	+	20	2055	c.1926_splice	c.e20-1	p.A643_splice	CLCNKA_ENST00000439316.2_Splice_Site_p.A601_splice|CLCNKA_ENST00000331433.4_Splice_Site_p.A644_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Splice_Site_p.A643_splice			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	644	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCCATCCAGGCACAAAACCT	0.627000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	205					0	0	0.009096	0	0
LLGL2	3993	broad.mit.edu	37	17	73568022	73568022	+	Silent	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:73568022C>A	ENST00000392550.3	+	19	2454	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	LLGL2_ENST00000577200.1_Silent_p.I779I|LLGL2_ENST00000167462.5_Silent_p.I779I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	779					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTGGGCATCCTGGTGCTCG	0.667000													7	31					0.00198382	0.00239771	0.001984	1	0
NFATC3	4775	broad.mit.edu	37	16	68156924	68156924	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:68156924C>G	ENST00000349223.5	+	2	1362	c.1138C>G	c.(1138-1140)Cag>Gag	p.Q380E	NFATC3_ENST00000346183.3_Missense_Mutation_p.Q380E|NFATC3_ENST00000575270.1_Missense_Mutation_p.Q380E|NFATC3_ENST00000329524.4_Missense_Mutation_p.Q380E|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	380					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTTGGATCTCAGTATCCTTT	0.453000													20	115					0	0	0.007413	0	0
OR7A5	26659	broad.mit.edu	37	19	14938846	14938846	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:14938846C>A	ENST00000322301.3	-	2	295	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	OR7A5_ENST00000594432.1_Missense_Mutation_p.D70Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACACAAATGTCAGCAAAGGAC	0.488000													39	104					4.32679e-17	5.76906e-17	0.006999	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	27					0	0	0.004482	0	0
CA5A	763	broad.mit.edu	37	16	87960541	87960541	+	Silent	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:87960541G>C	ENST00000309893.2	-	2	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	51					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GGACCGTCCAGAGTGGGTGCA	0.632000													2	7					0	0	0.004672	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173350	81173350	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:81173350C>A	ENST00000394685.3	+	6	909	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.L164M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L164M			Q8WUJ3	K1199_HUMAN	KIAA1199	164	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGACATTTCTGAACAAGAC	0.493000													24	129					7.33532e-06	9.19652e-06	0.003954	1	0
PTPRO	5800	broad.mit.edu	37	12	15722430	15722430	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:15722430G>C	ENST00000281171.4	+	19	3157	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E915Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E104Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	943	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCTTCAGTTTGAGGTGAGTTG	0.448000													4	49					0	0	0.009096	0	0
MGARP	84709	broad.mit.edu	37	4	140196504	140196504	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:140196504G>C	ENST00000398955.1	-	2	304	c.125C>G	c.(124-126)tCt>tGt	p.S42C		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	42						integral to membrane											ATTTGATCCAGATGATCCAGG	0.368000													3	53					0	0	0.004672	0	0
MYH7B	57644	broad.mit.edu	37	20	33587469	33587469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33587469G>A	ENST00000262873.7	+	35	4854	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1546						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGAAGAGTGAGATCCAGGC	0.622000													9	41					0	0	0.006214	0	0
FGD2	221472	broad.mit.edu	37	6	36989314	36989314	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:36989314C>T	ENST00000274963.8	+	12	1431	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	420					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTGACCAAATCGAGAAGCGGA	0.597000											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26					0	0	0.001984	0	0
GBA2	57704	broad.mit.edu	37	9	35738809	35738809	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35738809A>T	ENST00000378094.4	-	12	2400	c.1887T>A	c.(1885-1887)taT>taA	p.Y629*	GBA2_ENST00000378103.3_Nonsense_Mutation_p.Y629*|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Nonsense_Mutation_p.Y635*			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	629					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATAGTCCCGATAAACCTGCA	0.493000													17	226					0	0	0.004990	0	0
CHMP5	51510	broad.mit.edu	37	9	33276501	33276501	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:33276501C>G	ENST00000419016.2	+	6	475	c.435C>G	c.(433-435)atC>atG	p.I145M	CHMP5_ENST00000223500.8_Missense_Mutation_p.I145M	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	145	Interaction with VTA1.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAAATGAAATCCAAGAAGCAC	0.358000													10	68					0	0	0.008291	0	0
PRAM1	84106	broad.mit.edu	37	19	8563261	8563261	+	Splice_Site	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:8563261T>C	ENST00000423345.4	-	2	1951	c.1432_splice	c.e2+1	p.I477_splice	PRAM1_ENST00000255612.3_Splice_Site_p.I477_splice			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	525	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCACCCACCTATGGATGCTG	0.697000													6	5					0	0	0.001168	0	0
OGDH	4967	broad.mit.edu	37	7	44684960	44684960	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:44684960G>C	ENST00000222673.5	+	3	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	OGDH_ENST00000444676.1_Missense_Mutation_p.G86A|OGDH_ENST00000443864.2_Missense_Mutation_p.G86A|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.G26A|OGDH_ENST00000449767.1_Missense_Mutation_p.G86A|OGDH_ENST00000447398.1_Missense_Mutation_p.G86A	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	86					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACGAATGCCGGAGCCCCACCG	0.582000													21	162					0	0	0.003954	0	0
RBM34	23029	broad.mit.edu	37	1	235324324	235324324	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:235324324C>T	ENST00000408888.3	-	2	342	c.112G>A	c.(112-114)Gtc>Atc	p.V38I	RBM34_ENST00000366606.3_Missense_Mutation_p.V33I			P42696	RBM34_HUMAN	RNA binding motif protein 34	38						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTACTGGCGACCTGTCCAAGC	0.597000													4	64					0	0	0.009096	0	0
PNPT1	87178	broad.mit.edu	37	2	55895069	55895069	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:55895069T>G	ENST00000447944.2	-	12	1087	c.1001A>C	c.(1000-1002)tAt>tCt	p.Y334S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	334					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATTATTTCATATGGATCGGC	0.279000													13	34					0	0	0.001855	0	0
FAM47B	170062	broad.mit.edu	37	X	34961479	34961479	+	Silent	SNP	C	C	T	rs149160457		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:34961479C>T	ENST00000329357.5	+	1	567	c.531C>T	c.(529-531)acC>acT	p.T177T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	177										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGTACCCACCGAGTCTGGTA	0.612000													11	22					0	0	0.008291	0	0
ABCC12	94160	broad.mit.edu	37	16	48173139	48173139	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:48173139A>G	ENST00000311303.3	-	5	1111	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	ABCC12_ENST00000448542.1_Missense_Mutation_p.F256L|ABCC12_ENST00000416054.1_Missense_Mutation_p.F256L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	256	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGAATGAAAAAGGCGTACGCC	0.473000													3	114					0	0	0.004672	0	0
SEZ6	124925	broad.mit.edu	37	17	27286791	27286791	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27286791C>G	ENST00000317338.12	-	8	2124	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	SEZ6_ENST00000360295.9_Missense_Mutation_p.E566Q|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E566Q|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	566	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGCCCTGCTCCAGGGTGTAG	0.587000													5	49					0	0	0.001168	0	0
DEFB121	245934	broad.mit.edu	37	20	29992772	29992772	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:29992772C>T	ENST00000376314.2	-	2	288	c.175G>A	c.(175-177)Gta>Ata	p.V59I	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	59					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTGGTTTTACAGGTACATAC	0.413000													21	56					0	0	0.010504	0	0
MEFV	4210	broad.mit.edu	37	16	3293589	3293589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:3293589G>T	ENST00000219596.1	-	10	1937	c.1898C>A	c.(1897-1899)cCg>cAg	p.P633Q	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.P422Q|MEFV_ENST00000339854.4_Missense_Mutation_p.P453Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.P633Q(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AAATCTTTGCGGGCCATCAGG	0.517000													4	342					0.00909568	0.0109148	0.009096	1	0
ATP8B4	79895	broad.mit.edu	37	15	50212513	50212513	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:50212513G>A	ENST00000284509.6	-	18	1994	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A618V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	618					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	p.A618V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCAGCATTCGCATCTTCAAG	0.448000													9	84					0	0	0.006214	0	0
ITGA8	8516	broad.mit.edu	37	10	15628625	15628625	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:15628625A>G	ENST00000378076.3	-	23	2683	c.2330T>C	c.(2329-2331)cTg>cCg	p.L777P		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	777					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTGATTTGCAGGCTCACAAA	0.358000													8	34					0	0	0.006214	0	0
SEMG1	6406	broad.mit.edu	37	20	43836893	43836893	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:43836893G>A	ENST00000372781.3	+	2	1012	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TAGCCAAACTGAAGAGAAAGC	0.378000													7	32					0	0	0.001984	0	0
E2F8	79733	broad.mit.edu	37	11	19259523	19259523	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:19259523T>C	ENST00000527884.1	-	3	404	c.172A>G	c.(172-174)Aca>Gca	p.T58A	E2F8_ENST00000250024.4_Missense_Mutation_p.T58A|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	58					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTCGGTGTCCACGGCTCT	0.517000													3	172					0	0	0.004672	0	0
TLN1	7094	broad.mit.edu	37	9	35724572	35724572	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35724572C>G	ENST00000314888.9	-	5	861	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E170Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	170	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTTACACTCATCATCTGTG	0.448000													244	170					0	0	0.014410	0	0
CCDC125	202243	broad.mit.edu	37	5	68616363	68616363	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:68616363C>T	ENST00000396496.2	-	2	112	c.5G>A	c.(4-6)aGc>aAc	p.S2N	CCDC125_ENST00000396499.1_Missense_Mutation_p.S2N|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.S2N|CCDC125_ENST00000511257.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	2						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGCCACCTTGCTCATGAGCCA	0.448000													13	60					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	58					0	0	0.004656	0	0
UNC13B	10497	broad.mit.edu	37	9	35389842	35389842	+	Splice_Site	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35389842G>C	ENST00000378495.3	+	24	3069		c.e24-1		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGGATCAAGAAGCAGGAGC	0.498000													18	196					0	0	0.004990	0	0
TRPM1	4308	broad.mit.edu	37	15	31294456	31294456	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:31294456T>C	ENST00000542188.1	-	27	4811	c.4498A>G	c.(4498-4500)Atc>Gtc	p.I1500V	TRPM1_ENST00000397795.2_Missense_Mutation_p.I1461V|TRPM1_ENST00000256552.6_Missense_Mutation_p.I1483V|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1461					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)		TGGTCCGTGATTGAACTGTAC	0.468000													35	120					0	0	0.004289	0	0
BRD4	23476	broad.mit.edu	37	19	15374344	15374344	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:15374344G>A	ENST00000263377.2	-	7	1449	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	BRD4_ENST00000360016.5_Missense_Mutation_p.R410C|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.R410C	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	410	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGTACTCACGGGCCTCCAGT	0.532000			T	C15orf55	lethal midline carcinoma of young people								17	34					0	0	0.004007	0	0
TRPM2	7226	broad.mit.edu	37	21	45859043	45859043	+	Missense_Mutation	SNP	G	G	T	rs142254503	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:45859043G>T	ENST00000397928.1	+	30	4706	c.4261G>T	c.(4261-4263)Ggc>Tgc	p.G1421C	TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421C|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471C|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367C|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602000													7	31					0.000157383	0.000192996	0.003080	1	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													3	55					0	0	0.009096	0	0
MAOA	4128	broad.mit.edu	37	X	43601196	43601196	+	Splice_Site	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:43601196G>C	ENST00000338702.3	+	12	1287		c.e12-1		MAOA_ENST00000542639.1_Splice_Site	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CTGAACTGCAGCCAGTGCATT	0.423000													5	17					0	0	0.000602	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142144058	142144058	+	RNA	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:142144058C>T	ENST00000390373.2	-	0	26																											GAGAAAAGGCCACACAGCACA	0.602000													4	170					0	0	0.001855	0	0
CEP170	9859	broad.mit.edu	37	1	243362360	243362360	+	Splice_Site	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:243362360A>G	ENST00000366542.1	-	7	683		c.e7+1		CEP170_ENST00000366544.1_Splice_Site|CEP170_ENST00000366543.1_Splice_Site	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGATTTTTTTACCTGATGTTC	0.403000													5	36					0	0	0.000602	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880401	74880401	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:74880401T>G	ENST00000289575.5	+	5	1027	c.632T>G	c.(631-633)aTc>aGc	p.I211S	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I189S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I67S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I95S|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	211					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCTTTGGCATCTCCTACATC	0.597000													9	92					0	0	0.008291	0	0
ABCA1	19	broad.mit.edu	37	9	107591238	107591238	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:107591238G>T	ENST00000374736.3	-	15	2468	c.2074C>A	c.(2074-2076)Cct>Act	p.P692T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	692					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAAGAAGAGGAATGAGGCTA	0.542000													10	45					1.08611e-07	1.39287e-07	0.010729	1	0
UACA	55075	broad.mit.edu	37	15	70960742	70960742	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:70960742T>C	ENST00000322954.6	-	16	2466	c.2281A>G	c.(2281-2283)Att>Gtt	p.I761V	UACA_ENST00000539319.1_Missense_Mutation_p.I652V|UACA_ENST00000379983.2_Missense_Mutation_p.I748V|UACA_ENST00000560441.1_Missense_Mutation_p.I746V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	761						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGATCATCAATAATTGCATCA	0.303000													11	37					0	0	0.010729	0	0
TMEM202	338949	broad.mit.edu	37	15	72698993	72698993	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:72698993C>T	ENST00000341689.3	+	3	442	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	TMEM202_ENST00000567679.1_Silent_p.Y44Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	130						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTTACCATACTTACTGGCCT	0.478000													20	122					0	0	0.008871	0	0
VWA8	23078	broad.mit.edu	37	13	42404684	42404684	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:42404684C>T	ENST00000379310.3	-	14	1749	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	VWA8_ENST00000281496.6_Missense_Mutation_p.D561N	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AGCTGTTCATCAGACAGTTGC	0.373000													27	73					0	0	0.006320	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516786	102516786	+	Silent	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:102516786C>G	ENST00000360184.4	+	78	13991	c.13827C>G	c.(13825-13827)gtC>gtG	p.V4609V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4609					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTTACCTGTCTACCTGAACT	0.542000													34	266					0	0	0.004289	0	0
GK2	2712	broad.mit.edu	37	4	80328273	80328273	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:80328273A>G	ENST00000358842.3	-	1	1099	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	361					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAAGGCTGGGACAAAGTAACA	0.413000													17	89					0	0	0.004007	0	0
ALK	238	broad.mit.edu	37	2	29462560	29462560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:29462560C>T	ENST00000389048.3	-	13	3247	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	781					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGCAGGCGTCCTCTCCCTGC	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	52					0	0	0.002450	0	0
MYO1G	64005	broad.mit.edu	37	7	45010561	45010561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:45010561G>A	ENST00000258787.7	-	8	1080	c.944C>T	c.(943-945)aCg>aTg	p.T315M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	315	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGTGTGGCCGTCAGCTCAGC	0.657000													9	36					0	0	0.006214	0	0
NCOA6	23054	broad.mit.edu	37	20	33369945	33369945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33369945C>T	ENST00000374796.2	-	4	2784	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V72M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	72	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AAATTGGGCACGTTTTTCAAT	0.313000													7	25					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448404	25448404	+	RNA	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:25448404G>A	ENST00000424208.1	+	0	2163				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATATTGTCCTGAAGAGAGGTG	0.512000													16	255					0	0	0.004007	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102293002	102293002	+	RNA	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:102293002G>C	ENST00000561463.1	+	0	1048																											GCACTCGCGTGGGAACAAGAA	0.592000													5	15					0	0	0.006214	0	0
HADH	3033	broad.mit.edu	37	4	108935703	108935703	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:108935703G>A	ENST00000505878.1	+	4	663	c.390G>A	c.(388-390)gtG>gtA	p.V130V	HADH_ENST00000403312.1_Silent_p.V185V|HADH_ENST00000309522.3_Silent_p.V126V|HADH_ENST00000454409.2_Silent_p.V130V|HADH_ENST00000603302.1_Silent_p.V126V			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	126					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATCTGAAGGTGAAAAACGAGC	0.448000													19	87					0	0	0.008871	0	0
RFX4	5992	broad.mit.edu	37	12	107126831	107126831	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:107126831C>A	ENST00000392842.1	+	15	2015	c.1601C>A	c.(1600-1602)cCt>cAt	p.P534H	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.P440H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P543H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	534					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTAGCAATCCTTCCCCTGAG	0.517000													5	188					0.00116845	0.00142246	0.001168	1	0
ZNF419	79744	broad.mit.edu	37	19	58003591	58003591	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:58003591G>A	ENST00000518999.1	+	4	493	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ZNF419_ENST00000520540.1_Missense_Mutation_p.V92M|ZNF419_ENST00000424930.2_Intron|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000426954.2_Intron|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000221735.7_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TAGTTGGTGGGTGGAGCTCAG	0.498000													13	85					0	0	0.006320	0	0
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:104130542G>A	ENST00000259407.2	-	3	637	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_ENST00000395051.3_Missense_Mutation_p.R177W	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478000													7	42					0	0	0.006214	0	0
SOX13	9580	broad.mit.edu	37	1	204082212	204082212	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:204082212G>A	ENST00000367204.1	+	2	278	c.169G>A	c.(169-171)Gat>Aat	p.D57N	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	57					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCTCCCAGGATAGTGCTGA	0.652000													5	18					0	0	0.001168	0	0
TPH2	121278	broad.mit.edu	37	12	72425343	72425343	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:72425343C>T	ENST00000333850.3	+	11	1482	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	447					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGTATACTTCAATCCCTACA	0.423000													8	55					0	0	0.004482	0	0
TTC3	7267	broad.mit.edu	37	21	38467718	38467718	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:38467718C>G	ENST00000399017.2	+	9	3503	c.756C>G	c.(754-756)atC>atG	p.I252M	TTC3_ENST00000355666.1_Missense_Mutation_p.I252M|TTC3_ENST00000399010.1_Missense_Mutation_p.I252M|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.I252M	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	252					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGCTATTATCTATTACACCA	0.333000													6	73					0	0	0.001984	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781879	20781879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:20781879G>A	ENST00000398169.3	-	6	995	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CCNB1IP1_ENST00000437553.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000358932.4_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000353689.4_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398160.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398163.2_Nonsense_Mutation_p.Q127*			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	127						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTTGCTGAGTATATATC	0.383000			T	HMGA2	leiomyoma								6	46					0	0	0.001984	0	0
OR6S1	341799	broad.mit.edu	37	14	21109439	21109439	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:21109439T>C	ENST00000320704.3	-	1	411	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCCCCACTCATGAGCAAGGGG	0.587000													14	54					0	0	0.001855	0	0
LRP4	4038	broad.mit.edu	37	11	46917452	46917452	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:46917452T>A	ENST00000378623.1	-	10	1408	c.1166A>T	c.(1165-1167)gAt>gTt	p.D389V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	389	EGF-like 1; calcium-binding (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTGTGCCCATCCTCTGTGAG	0.612000													22	82					0	0	0.004656	0	0
ATP13A3	79572	broad.mit.edu	37	3	194126832	194126832	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:194126832C>T	ENST00000439040.1	-	33	4288	c.3497G>A	c.(3496-3498)cGg>cAg	p.R1166Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R1166Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1166					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTCCCCACCGATCCACTGA	0.433000													7	61					0	0	0.001984	0	0
CCNL2	81669	broad.mit.edu	37	1	1325617	1325617	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:1325617G>A	ENST00000400809.3	-	8	1004	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CCNL2_ENST00000408952.5_Silent_p.P111P|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	333					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCAGCTTGGGGGCAGGAG	0.597000													24	140					0	0	0.002780	0	0
EXD2	55218	broad.mit.edu	37	14	69701563	69701563	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69701563C>T	ENST00000409014.1	+	7	1146	c.489C>T	c.(487-489)gtC>gtT	p.V163V	EXD2_ENST00000409675.1_Silent_p.V163V|EXD2_ENST00000409242.1_Silent_p.V163V|EXD2_ENST00000312994.5_Silent_p.V288V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.V163V|EXD2_ENST00000409018.3_Silent_p.V288V|EXD2_ENST00000409949.1_Silent_p.V163V	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	163					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGGTGTGGTCGACATCCCAT	0.433000													13	55					0	0	0.002450	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538730	112538730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:112538730G>A	ENST00000488794.1	-	7	1218	c.629C>T	c.(628-630)tCa>tTa	p.S210L	CD200R1L_ENST00000398214.1_Missense_Mutation_p.S231L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.S210L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	231	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGGAGATCCTGAGGTTCTGAG	0.353000													8	58					0	0	0.004482	0	0
LILRA1	11024	broad.mit.edu	37	19	55107880	55107880	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:55107880C>G	ENST00000251372.3	+	7	1367	c.1185C>G	c.(1183-1185)taC>taG	p.Y395*	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	395	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGGGGACCTACAGGTGCTACG	0.582000													10	210					0	0	0.006214	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717534	13717534	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:13717534G>A	ENST00000279593.3	-	13	2847	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					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)	ACAGACTGGCGCTCCTCGATC	0.537000													24	125					0	0	0.003954	0	0
DZIP1	22873	broad.mit.edu	37	13	96237020	96237020	+	Missense_Mutation	SNP	C	C	T	rs147653120		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:96237020C>T	ENST00000347108.3	-	20	2926	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	DZIP1_ENST00000376829.2_Missense_Mutation_p.A832T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A813T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A813T			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	832					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGATTAAATGCGCCCCAGGCA	0.408000													38	90					0	0	0.007835	0	0
ARHGAP4	393	broad.mit.edu	37	X	153175297	153175297	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153175297T>C	ENST00000370028.3	-	20	2489	c.2432A>G	c.(2431-2433)gAc>gGc	p.D811G	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D593G|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D771G|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D750G|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D748G	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	771					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAGTACGTCCCCCCGCCG	0.701000													2	3					0	0	0.004672	0	0
ABCA6	23460	broad.mit.edu	37	17	67094139	67094139	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:67094139C>T	ENST00000284425.2	-	23	3216	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1014					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)					AGGAACCATCCGGCAACCCAG	0.358000													6	25					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578555C>T	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	22					0	0	0.006214	0	0
PTPRS	5802	broad.mit.edu	37	19	5210481	5210481	+	Splice_Site	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:5210481C>T	ENST00000372412.4	-	35	5722	c.5490_splice	c.e35+1	p.R1830_splice	PTPRS_ENST00000357368.4_Splice_Site_p.R1829_splice|PTPRS_ENST00000587303.1_Splice_Site_p.R1829_splice|PTPRS_ENST00000592099.1_Splice_Site_p.R1382_splice|PTPRS_ENST00000588012.1_Splice_Site_p.R1791_splice|PTPRS_ENST00000262963.6_Splice_Site_p.R1809_splice|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Splice_Site_p.R1382_splice|PTPRS_ENST00000348075.2_Splice_Site_p.R1791_splice			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTCACTCACCCGGGCATCTGT	0.557000													24	82					0	0	0.004656	0	0
FHDC1	85462	broad.mit.edu	37	4	153897721	153897721	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:153897721G>A	ENST00000511601.1	+	12	3466	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1093Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1093					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCAGTGCCCGGGCCCCCAAG	0.682000													5	29					0	0	0.001168	0	0
ADCY9	115	broad.mit.edu	37	16	4164320	4164320	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164320A>T	ENST00000294016.3	-	2	1662	c.1124T>A	c.(1123-1125)aTc>aAc	p.I375N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	375					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCTTTTTGGATGGAAGACTT	0.463000													33	111					0	0	0.012213	0	0
PEX1	5189	broad.mit.edu	37	7	92146635	92146635	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:92146635G>C	ENST00000541751.1	-	0	94				PEX1_ENST00000248633.4_Missense_Mutation_p.I398M|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I398M			O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGGTATATTTGATGGCATTGT	0.343000													22	110					0	0	0.014323	0	0
VWA3B	200403	broad.mit.edu	37	2	98914471	98914471	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:98914471G>A	ENST00000477737.1	+	24	3463	c.3259G>A	c.(3259-3261)Gcc>Acc	p.A1087T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGGGGGGCGCCATGCCCTG	0.587000													21	89					0	0	0.012319	0	0
IL2RA	3559	broad.mit.edu	37	10	6066285	6066285	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:6066285G>C	ENST00000379959.3	-	3	462	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E	IL2RA_ENST00000256876.6_Missense_Mutation_p.Q97E|IL2RA_ENST00000379954.1_Missense_Mutation_p.Q97E	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	97					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCTTCAGGTTGAGGTGTCACT	0.423000													6	46					0	0	0.001168	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909316	909316	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:909316G>T	ENST00000379409.2	+	13	1724	c.1694G>T	c.(1693-1695)gGc>gTc	p.G565V	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G478V|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G513V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	565										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTCCTCCGGCCCCGCTGGC	0.692000													6	28					3.59834e-05	4.47793e-05	0.001168	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292132	89292132	+	RNA	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:89292132C>A	ENST00000495489.1	-	0	193																											TGCTAATACCCTGACTCGCCC	0.507000													51	245					5.13769e-22	6.90505e-22	0.014410	1	0
HRH1	3269	broad.mit.edu	37	3	11300945	11300945	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:11300945G>A	ENST00000397056.1	+	3	413	c.222G>A	c.(220-222)ttG>ttA	p.L74L	HRH1_ENST00000438284.2_Silent_p.L74L|HRH1_ENST00000431010.2_Silent_p.L74L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	74					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGGCGGACTTGATCGTGGGTG	0.577000													13	97					0	0	0.001855	0	0
OR2T12	127064	broad.mit.edu	37	1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:248458187G>A	ENST00000317996.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522000													24	86					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179474486	179474486	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:179474486C>T	ENST00000589042.1	-	272	51888	c.51664G>A	c.(51664-51666)Gtg>Atg	p.V17222M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8157M|TTN_ENST00000342175.6_Missense_Mutation_p.V8349M|TTN_ENST00000359218.5_Missense_Mutation_p.V8282M|TTN_ENST00000342992.6_Missense_Mutation_p.V14654M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V15581M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15581	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCTCGCACACGGAATTGG	0.483000													15	411					0	0	0.002450	0	0
IGSF1	3547	broad.mit.edu	37	X	130409171	130409171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:130409171G>C	ENST00000370904.1	-	23	4157	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	IGSF1_ENST00000370903.3_Missense_Mutation_p.P1097A|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1083A|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1092A			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1092	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGAGTCTGGCAGTTCCCCT	0.547000													7	132					0	0	0.001984	0	0
EMD	2010	broad.mit.edu	37	X	153608360	153608360	+	Silent	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153608360T>A	ENST00000369842.4	+	3	534	c.246T>A	c.(244-246)gcT>gcA	p.A82A	EMD_ENST00000369835.3_Silent_p.A47A|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	82	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAGGACGCTTTACTCTACC	0.557000													63	78					0	0	0.014410	0	0
LDB3	11155	broad.mit.edu	37	10	88452313	88452313	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:88452313C>T	ENST00000429277.2	+	8	1230	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	LDB3_ENST00000372056.4_Missense_Mutation_p.A362V|LDB3_ENST00000458213.2_Missense_Mutation_p.A247V|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Missense_Mutation_p.A294V|LDB3_ENST00000372066.3_Missense_Mutation_p.A247V|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.A294V|LDB3_ENST00000263066.6_Missense_Mutation_p.A247V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	361						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATGAAGAAGCTCTGCGAAGG	0.602000													15	86					0	0	0.003163	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866446	140866446	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:140866446G>A	ENST00000306593.1	+	1	1706	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.R569L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGTCCTCGGGCCCGGCCT	0.572000													30	101					0	0	0.010818	0	0
SGCA	6442	broad.mit.edu	37	17	48243421	48243421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48243421G>A	ENST00000262018.3	+	1	56	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Nonsense_Mutation_p.W7*|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Nonsense_Mutation_p.W7*	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	7					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACACTCTTCTGGACTCCTCTC	0.672000													13	233					0	0	0.002450	0	0
NOLC1	9221	broad.mit.edu	37	10	103921945	103921945	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:103921945G>A	ENST00000405356.1	+	13	2284	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	NOLC1_ENST00000488254.2_Silent_p.E674E|NOLC1_ENST00000605788.1_Silent_p.E673E|NOLC1_ENST00000603742.1_Silent_p.E392E|NOLC1_ENST00000477977.1_Intron			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	673					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCGGCATGAGAAAACCAAGA	0.527000													55	288					0	0	0.014410	0	0
OR1B1	347169	broad.mit.edu	37	9	125391138	125391138	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:125391138C>G	ENST00000304833.3	-	1	714	c.677G>C	c.(676-678)cGa>cCa	p.R226P	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542000													5	79					0	0	0.001168	0	0
ANXA1	301	broad.mit.edu	37	9	75775272	75775272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:75775272G>T	ENST00000376911.1	+	4	1246	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.E122*			P04083	ANXA1_HUMAN	annexin A1	122					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGATGCTGATGAACTTCGTGC	0.428000													14	114					7.93312e-07	1.00967e-06	0.002450	1	0
RAPGEF5	9771	broad.mit.edu	37	7	22190076	22190076	+	Silent	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:22190076G>C	ENST00000344041.6	-	18	1686	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	RAPGEF5_ENST00000401957.2_Silent_p.L308L	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	308	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGATGCCTCGAGGGATTTGG	0.403000													10	121					0	0	0.006214	0	0
CCDC116	164592	broad.mit.edu	37	22	21988525	21988525	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:21988525G>T	ENST00000292779.3	+	3	448	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	96			R -> C (in dbSNP:rs861854).					p.R96L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGACTGAGCGCATGGCTGCC	0.632000													26	66					4.59853e-10	6.03557e-10	0.005443	1	0
PDGFRB	5159	broad.mit.edu	37	5	149516594	149516594	+	Missense_Mutation	SNP	G	G	A	rs150173975	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:149516594G>A	ENST00000261799.4	-	2	486	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGGCATCGCACCCGGAAG	0.642000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								11	45					0	0	0.008291	0	0
NEK8	284086	broad.mit.edu	37	17	27068133	27068133	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27068133C>T	ENST00000268766.6	+	13	1804	c.1770C>T	c.(1768-1770)caC>caT	p.H590H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	590						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCAATCAGCACGGACAGTTGG	0.582000													28	118					0	0	0.005443	0	0
C6orf106	64771	broad.mit.edu	37	6	34614452	34614452	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:34614452A>C	ENST00000374023.3	-	3	680	c.437T>G	c.(436-438)aTg>aGg	p.M146R	C6orf106_ENST00000374021.1_Missense_Mutation_p.M72R|C6orf106_ENST00000374026.3_Intron	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	146										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGGGCTGCACATCTGGACGCT	0.522000													18	234					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11556233	11556233	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:11556233C>G	ENST00000262442.3	+	14	2577	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L837V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	837	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAATCCCTTCTTTCTCTGGA	0.388000													18	53					0	0	0.008871	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257036	69257036	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69257036G>A	ENST00000439696.2	-	2	532	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ZFP36L1_ENST00000336440.3_Silent_p.P77P|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	77					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P77fs*67(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTCAGAGCGGGGGCTGGCT	0.692000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					0	0	0.008291	0	0
CHSY1	22856	broad.mit.edu	37	15	101775715	101775715	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:101775715G>C	ENST00000254190.3	-	2	863	c.388C>G	c.(388-390)Cca>Gca	p.P130A		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	130					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGGAATTGGTACAGATGTG	0.458000													25	102					0	0	0.002780	0	0
GLRA4	441509	broad.mit.edu	37	X	102979135	102979135	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:102979135G>T	ENST00000372617.4	-	4	785	c.365C>A	c.(364-366)tCc>tAc	p.S122Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	122						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTCCAGCATGGAGGGATCGAG	0.527000													49	53					1.02067e-35	1.39408e-35	0.014410	1	0
ZXDC	79364	broad.mit.edu	37	3	126180734	126180734	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:126180734G>A	ENST00000389709.3	-	6	1824	c.1771C>T	c.(1771-1773)Ctg>Ttg	p.L591L	ZXDC_ENST00000336332.5_Silent_p.L591L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	591	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCTGCTGCAGAACCGTGGCT	0.602000													23	90					0	0	0.002780	0	0
TCP10	6953	broad.mit.edu	37	6	167787839	167787839	+	Splice_Site	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:167787839C>G	ENST00000366827.2	-	7	1000	c.789_splice	c.e7+1	p.Q263_splice	TCP10_ENST00000397829.4_Splice_Site_p.Q263_splice			Q12799	TCP10_HUMAN	t-complex 10	290						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCCACCTACCTGCCGCTCTG	0.592000													4	48					0	0	0.001984	0	0
IRAK1	3654	broad.mit.edu	37	X	153284101	153284101	+	Silent	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153284101C>A	ENST00000369980.3	-	5	845	c.678G>T	c.(676-678)gtG>gtT	p.V226V	IRAK1_ENST00000393682.1_Silent_p.V252V|IRAK1_ENST00000393687.2_Silent_p.V226V|IRAK1_ENST00000429936.2_Silent_p.V252V|IRAK1_ENST00000369974.2_Silent_p.V226V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	226	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCGGTACACGCACCCAA	0.612000													51	70					1.66251e-12	2.19922e-12	0.014410	1	0
AP1B1	162	broad.mit.edu	37	22	29737728	29737728	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29737728G>A	ENST00000357586.2	-	13	1744	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	AP1B1_ENST00000432560.2_Missense_Mutation_p.R520W|AP1B1_ENST00000415447.1_Missense_Mutation_p.R520W|AP1B1_ENST00000402502.1_Missense_Mutation_p.R520W|AP1B1_ENST00000356015.2_Missense_Mutation_p.R520W|AP1B1_ENST00000405198.1_Missense_Mutation_p.R520W|AP1B1_ENST00000317368.7_Missense_Mutation_p.R520W	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	520					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCACGGTCCCGCAGGTCTGGG	0.597000													20	36					0	0	0.007413	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790617	153790618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:153790617_153790618insA	ENST00000368655.4	-	5	870_871	c.627_628insT	c.(625-630)atttcafs	p.S210fs		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	210						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGGCTGAACAATAGATGCTG	0.475													26	126	---	---	---	---					
IVNS1ABP	10625	broad.mit.edu	37	1	185274695	185274696	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:185274695_185274696insCT	ENST00000367498.3	-	8	1359_1360	c.737_738insAG	c.(736-738)agafs	p.R246fs	IVNS1ABP_ENST00000392007.3_Frame_Shift_Ins_p.R28fs|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	246	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GGTCATCATCACTGCCAAACAC	0.416													11	67	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629576	187629580	+	Frame_Shift_Del	DEL	TTGTA	TTGTA	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:187629576_187629580delTTGTA	ENST00000441802.2	-	2	1611_1615	c.1402_1406delTACAA	c.(1402-1407)afs	p.YK468fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	468	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAAGCAGCTTTGTACGCTGTCTGG	0.473										HNSCC(5;0.00058)			50	210	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2766468	2766469	+	Frame_Shift_Ins	INS	-	-	GGGG	rs148900120	by1000genomes	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:2766468_2766469insGGGG	ENST00000380773.4	+	1	821_822	c.612_613insGGGG	c.(610-615)ggggggfs	p.GG204fs	WRNIP1_ENST00000380769.4_5'UTR|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.GG204fs	NM_020135.2	NP_064520.2	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	204					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGCCAGTggcgggggccgccc	0.752													4	6	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83832654	83832656	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:83832654_83832656delTTA	ENST00000349129.2	+	12	1553_1555	c.1293_1295delTTA	c.(1291-1296)cct>cc	p.PY431del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.PY422del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.PY422del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	431					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCTTCGAACCTTATTATATGTGG	0.315													7	20	---	---	---	---					
DNAH11	8701	broad.mit.edu	37	7	21609805	21609806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:21609805_21609806insA	ENST00000328843.6	+	7	1344_1345	c.1313_1314insA	c.(1312-1314)aaafs	p.K438fs	DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.K438fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	438	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R438T(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAACTATAGAAAAAAATTGG	0.391									Kartagener syndrome				11	66	---	---	---	---					
ELN	2006	broad.mit.edu	37	7	73474233	73474250	+	In_Frame_Del	DEL	GGCGTGGCTCCTGGAGTT	GGCGTGGCTCCTGGAGTT	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:73474233_73474250delGGCGTGGCTCCTGGAGTT	ENST00000252034.7	+	23	1831_1848	c.1432_1449delGGCGTGGCTCCTGGAGTT	c.(1432-1449)del	p.GVAPGV490del	ELN_ENST00000445912.1_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000458204.1_In_Frame_Del_p.GVAPGV480del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_In_Frame_Del_p.GVAPGV476del|ELN_ENST00000414324.1_In_Frame_Del_p.GVAPGV466del|ELN_ENST00000380553.4_In_Frame_Del_p.GVAPGV354del|ELN_ENST00000380562.4_In_Frame_Del_p.GVAPGV496del|ELN_ENST00000380584.4_In_Frame_Del_p.GVAPGV457del|ELN_ENST00000358929.4_In_Frame_Del_p.GVAPGV525del|ELN_ENST00000357036.5_In_Frame_Del_p.GVAPGV495del|ELN_ENST00000320399.6_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000320492.7_In_Frame_Del_p.GVAPGV409del|ELN_ENST00000380575.4_In_Frame_Del_p.GVAPGV461del|ELN_ENST00000380576.5_In_Frame_Del_p.GVAPGV471del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G478R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGCTC	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						80	366	---	---	---	---					
LRRC37A6P	387646	broad.mit.edu	37	10	27537737	27537741	+	RNA	DEL	TGCTT	TGCTT	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:27537737_27537741delTGCTT	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCCAACTGTATGCTTTCCATACATT	0.380													17	115	---	---	---	---					
SPECC1	92521	broad.mit.edu	37	17	20109115	20109115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:20109115delA	ENST00000395530.2	+	2	1718	c.1510delA	c.(1510-1512)aafs	p.K504fs	SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Frame_Shift_Del_p.K504fs|SPECC1_ENST00000584527.1_Frame_Shift_Del_p.K3fs|SPECC1_ENST00000395529.3_Frame_Shift_Del_p.K585fs|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Frame_Shift_Del_p.K504fs|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Frame_Shift_Del_p.K585fs|SPECC1_ENST00000395527.4_Frame_Shift_Del_p.K585fs	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	585						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAAATGTTGAAAGTAGCCCG	0.458													20	74	---	---	---	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs113792005	by1000genomes	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)acc>a	p.IAPSEYWDGQSRSRT441del		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674													4	7	---	---	---	---