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
PTPRK	5796	broad.mit.edu	37	6	128304088	128304088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:128304088G>A	ENST00000368227.3	-	25	3842	c.3476C>T	c.(3475-3477)gCc>gTc	p.A1159V	PTPRK_ENST00000368226.4_Missense_Mutation_p.A1142V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1148V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1164V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1174V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A1160V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A1141V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1141					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACATAAGCAGGCTTCTAAAAT	0.333000													8	68					0	0	0.003080	0	0
DGKI	9162	broad.mit.edu	37	7	137148266	137148266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:137148266G>T	ENST00000424189.2	-	28	2996	c.2767C>A	c.(2767-2769)Ctg>Atg	p.L923M	DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.L892M|DGKI_ENST00000288490.5_Missense_Mutation_p.L910M			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	910					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGATCTTTCAGATCTGAGTCC	0.522000													21	42					1.01871e-10	1.27646e-10	0.008871	1	0
ELAC2	60528	broad.mit.edu	37	17	12905653	12905653	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:12905653C>A	ENST00000338034.4	-	14	1481	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	ELAC2_ENST00000395962.2_Silent_p.V395V|ELAC2_ENST00000426905.3_Silent_p.V374V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	414					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAACCATGGGCACACTGAGGG	0.567000													21	54					1.28384e-07	1.50586e-07	0.001882	1	0
OR10C1	442194	broad.mit.edu	37	6	29407954	29407954	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:29407954C>A	ENST00000444197.2	+	1	872	c.162C>A	c.(160-162)ctC>ctA	p.L54L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGCTGCCCTCCAGTCCCCTA	0.562000													54	92					5.57489e-27	7.83498e-27	0.003610	1	0
PLCE1	51196	broad.mit.edu	37	10	95791986	95791986	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:95791986C>T	ENST00000260766.3	+	2	1817	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	PLCE1_ENST00000371380.2_Silent_p.L395L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	395					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGCCAACGTCTGTCAGAAGC	0.408000													5	37					0	0	0.001168	0	0
CFHR4	10877	broad.mit.edu	37	1	196883745	196883745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:196883745C>G	ENST00000367416.2	+	8	1435	c.1298C>G	c.(1297-1299)aCc>aGc	p.T433S	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.T187S|CFHR4_ENST00000251424.4_Missense_Mutation_p.T187S	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TATGGAAACACCACAGGTTCC	0.363000													7	43					0	0	0.003080	0	0
NALCN	259232	broad.mit.edu	37	13	101997697	101997697	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:101997697G>T	ENST00000251127.6	-	7	800	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	NALCN_ENST00000376196.3_Missense_Mutation_p.P240Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	240						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATCCAGGTGGGCACTGGTA	0.448000													51	42					5.13769e-22	7.03052e-22	0.003610	1	0
GPR137C	283554	broad.mit.edu	37	14	53020234	53020234	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53020234C>A	ENST00000321662.6	+	1	369	c.369C>A	c.(367-369)ccC>ccA	p.P123P		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	123						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACTTCTTCCCCCACTGGCTGC	0.672000													12	56					7.03913e-09	8.51243e-09	0.001368	1	0
NLRC5	84166	broad.mit.edu	37	16	57067576	57067576	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:57067576G>A	ENST00000436936.1	+	12	2763	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	NLRC5_ENST00000262510.6_Silent_p.T846T|NLRC5_ENST00000539144.1_Silent_p.T846T|NLRC5_ENST00000308149.7_Silent_p.T846T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	846					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAGCTTGACGCTCAGGTACC	0.547000													21	54					0	0	0.002299	0	0
LTK	4058	broad.mit.edu	37	15	41804997	41804997	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41804997C>T	ENST00000263800.6	-	3	363	c.267G>A	c.(265-267)gcG>gcA	p.A89A	LTK_ENST00000453182.2_Silent_p.A89A|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.A89A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	89					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCCCCGCGTACGCCCCGTCAC	0.692000										TSP Lung(18;0.14)			5	26					0	0	0.000602	0	0
SCARA5	286133	broad.mit.edu	37	8	27779353	27779353	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:27779353G>A	ENST00000354914.3	-	4	1136	c.651C>T	c.(649-651)ggC>ggT	p.G217G	SCARA5_ENST00000524352.1_Silent_p.G217G|SCARA5_ENST00000518030.1_Silent_p.G174G|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.G174G	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	217					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCAGCTCCTCGCCCAGGATGC	0.721000													4	3					0	0	0.009096	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855683	79855683	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:79855683C>T	ENST00000338682.3	-	5	828	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	52						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CATGTTTGGTCTTACAAGCGA	0.463000													23	143					0	0	0.002299	0	0
IFLTD1	160492	broad.mit.edu	37	12	25672821	25672821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:25672821C>A	ENST00000539744.1	-	7	1112	c.633G>T	c.(631-633)caG>caT	p.Q211H	IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q289H|IFLTD1_ENST00000445693.1_Missense_Mutation_p.Q245H|IFLTD1_ENST00000282881.6_Missense_Mutation_p.Q308H|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q329H	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	308						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTTGTTCCACCTGATAATTTG	0.388000													6	32					1.06961e-07	1.26409e-07	0.003080	1	0
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:4242554C>G	ENST00000399609.3	-	6	1034	c.1022G>C	c.(1021-1023)cGc>cCc	p.R341P	SRL_ENST00000537996.1_Missense_Mutation_p.R299P	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512000													45	138					0	0	0.003610	0	0
CACNB4	785	broad.mit.edu	37	2	152698521	152698521	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:152698521G>A	ENST00000360283.6	-	12	1356	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_Missense_Mutation_p.R353C|CACNB4_ENST00000534999.1_Missense_Mutation_p.R366C|CACNB4_ENST00000539935.1_Missense_Mutation_p.R400C|CACNB4_ENST00000427385.1_Missense_Mutation_p.R382C			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	400					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGGGTGGCACGCCAGTACGCC	0.493000													25	63					0	0	0.002780	0	0
HERC6	55008	broad.mit.edu	37	4	89326088	89326088	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:89326088T>A	ENST00000380265.5	+	9	1336	c.1153T>A	c.(1153-1155)Tcc>Acc	p.S385T	HERC6_ENST00000264346.7_Missense_Mutation_p.S385T	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	385					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AATTAGCCAGTCCATGGCAGA	0.428000													21	45					0	0	0.008871	0	0
XIST	7503	broad.mit.edu	37	X	73064128	73064128	+	RNA	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:73064128G>C	ENST00000429829.1	-	0	8460					NR_001564.2																						AAGGGACATTGTTGTGGTCAA	0.388000													51	43					0	0	0.003610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329467	88329467	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:88329467G>A	ENST00000325089.6	+	2	2043	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	SLITRK5_ENST00000400028.3_Silent_p.S367S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	608	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATTAAGTCGGAGCTGCTGT	0.582000													23	154					0	0	0.002299	0	0
C2	717	broad.mit.edu	37	6	31912989	31912989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31912989G>A	ENST00000299367.5	+	18	2390	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	C2_ENST00000469372.1_Missense_Mutation_p.C459Y|C2_ENST00000468407.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.C573Y|C2_ENST00000452323.2_Missense_Mutation_p.C491Y|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TACAACCCCTGCCTTGGCTCT	0.592000													8	94					0	0	0.004482	0	0
PRR12	57479	broad.mit.edu	37	19	50098459	50098459	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:50098459C>T	ENST00000418929.2	+	4	879	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	19	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACACGGTCATCAAGCACTACC	0.697000													5	12					0	0	0.000602	0	0
CIDEA	1149	broad.mit.edu	37	18	12262964	12262964	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:12262964G>T	ENST00000320477.9	+	2	244	c.179G>T	c.(178-180)aGc>aTc	p.S60I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	60	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.S94I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGCTCATCAGCAAGGTGCCC	0.642000													8	26					0.00307968	0.00330192	0.003080	1	0
RBBP6	5930	broad.mit.edu	37	16	24567192	24567192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:24567192G>A	ENST00000319715.4	+	6	920	c.488G>A	c.(487-489)cGt>cAt	p.R163H	RBBP6_ENST00000381039.3_Missense_Mutation_p.R163H|RBBP6_ENST00000348022.2_Missense_Mutation_p.R163H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACGTGTTTCCGTTGTGGTAAA	0.358000													10	19					0	0	0.001368	0	0
PDE10A	10846	broad.mit.edu	37	6	165848755	165848755	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165848755C>A	ENST00000366882.1	-	7	631	c.477G>T	c.(475-477)agG>agT	p.R159S	PDE10A_ENST00000354448.4_Missense_Mutation_p.R159S|PDE10A_ENST00000539869.2_Missense_Mutation_p.R169S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	159	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCAGTGTTTTCCTGGACTTGG	0.458000													11	60					0.000151284	0.000165038	0.001855	1	0
ANKRD16	54522	broad.mit.edu	37	10	5929887	5929887	+	Missense_Mutation	SNP	A	A	G	rs112121948		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:5929887A>G	ENST00000380094.5	-	2	1001	c.458T>C	c.(457-459)cTc>cCc	p.L153P	ANKRD16_ENST00000191063.8_Missense_Mutation_p.L153P|ANKRD16_ENST00000380092.4_Missense_Mutation_p.L153P	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	153										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CAGGTACTGGAGGATCAGAGG	0.532000													13	54					0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71778282	71778282	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:71778282G>A	ENST00000258104.3	+	18	1911	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	DYSF_ENST00000409762.1_Missense_Mutation_p.G562D|DYSF_ENST00000409651.1_Missense_Mutation_p.G577D|DYSF_ENST00000409366.1_Missense_Mutation_p.G546D|DYSF_ENST00000410020.3_Missense_Mutation_p.G563D|DYSF_ENST00000413539.2_Missense_Mutation_p.G576D|DYSF_ENST00000394120.2_Missense_Mutation_p.G546D|DYSF_ENST00000410041.1_Missense_Mutation_p.G563D|DYSF_ENST00000409582.3_Missense_Mutation_p.G562D|DYSF_ENST00000429174.2_Missense_Mutation_p.G545D|DYSF_ENST00000409744.1_Missense_Mutation_p.G532D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	545						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCAACACAGGCAAGGTAAGC	0.627000													38	53					0	0	0.004289	0	0
TMTC2	160335	broad.mit.edu	37	12	83250841	83250841	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:83250841A>G	ENST00000549919.1	+	3	1923	c.118A>G	c.(118-120)Att>Gtt	p.I40V	TMTC2_ENST00000548305.1_Missense_Mutation_p.I46V|TMTC2_ENST00000321196.3_Missense_Mutation_p.I46V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	46						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGGACGCACATTTTCTACAA	0.428000													61	117					0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30490651	30490651	+	Splice_Site	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:30490651G>A	ENST00000356798.6	+	6	625		c.e6-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGCTTCTGCAGAATGTATCAA	0.473000													23	40					0	0	0.002299	0	0
GPR141	353345	broad.mit.edu	37	7	37780667	37780667	+	Missense_Mutation	SNP	G	G	T	rs145445554	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:37780667G>T	ENST00000447769.1	+	4	961	c.672G>T	c.(670-672)caG>caT	p.Q224H	GPR141_ENST00000334425.1_Missense_Mutation_p.Q224H|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGGGCTCAGCTGAAAAACC	0.438000													43	110					2.35958e-20	3.17323e-20	0.009718	1	0
FLT1	2321	broad.mit.edu	37	13	28931821	28931821	+	Splice_Site	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:28931821T>A	ENST00000282397.4	-	15	2369	c.2116_splice	c.e15-1	p.G706_splice		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	706	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTAAAATAATTCCTGAGGGGT	0.443000													64	50					0	0	0.003610	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635731	34635731	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:34635731G>C	ENST00000378892.1	-	3	730	c.303C>G	c.(301-303)gtC>gtG	p.V101V	SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.V190V			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GGGTGCTGAAGACAGTGTCGG	0.617000													43	35					0	0	0.008740	0	0
CD163L1	283316	broad.mit.edu	37	12	7556294	7556294	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:7556294G>A	ENST00000313599.3	-	6	1302	c.1245C>T	c.(1243-1245)agC>agT	p.S415S	CD163L1_ENST00000416109.2_Silent_p.S425S|CD163L1_ENST00000396630.1_Silent_p.S415S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	415	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCAAAGACGCTGAACGGAC	0.458000													42	128					0	0	0.007835	0	0
EPHA7	2045	broad.mit.edu	37	6	94068039	94068039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:94068039G>T	ENST00000369303.4	-	4	1107	c.923C>A	c.(922-924)tCc>tAc	p.S308Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	308	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S308Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCACATCTGGAGGAGCCTTC	0.463000													43	41					3.7052e-28	5.23087e-28	0.003214	1	0
SEC14L4	284904	broad.mit.edu	37	22	30887558	30887558	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:30887558A>G	ENST00000392772.2	-	11	1197		c.e11+1		SEC14L4_ENST00000255858.7_Splice_Site|SEC14L4_ENST00000381982.3_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCAGCTCTTACAGACGCCAG	0.602000													11	62					0	0	0.008291	0	0
SCN8A	6334	broad.mit.edu	37	12	52056869	52056869	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:52056869A>T	ENST00000354534.5	+	2	446	c.268A>T	c.(268-270)Acg>Tcg	p.T90S	SCN8A_ENST00000545061.1_Missense_Mutation_p.T90S|SCN8A_ENST00000550891.1_Missense_Mutation_p.T90S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	90					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATACTATTTGACGCAGAAAGT	0.527000													51	92					0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75601187	75601187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75601187C>G	ENST00000549446.1	-	2	1257	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	KCNC2_ENST00000548513.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000298972.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000550433.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000341669.3_Missense_Mutation_p.E193Q|KCNC2_ENST00000393288.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000540018.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000350228.2_Missense_Mutation_p.E193Q	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	193					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCGCGTCCTCGATGCCCAGC	0.721000													4	22					0	0	0.000602	0	0
OPA1	4976	broad.mit.edu	37	3	193332569	193332569	+	Silent	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:193332569A>T	ENST00000361510.2	+	2	324	c.90A>T	c.(88-90)ctA>ctT	p.L30L	OPA1_ENST00000392438.3_Silent_p.L30L|OPA1_ENST00000361150.2_Silent_p.L30L|OPA1_ENST00000361828.2_Silent_p.L30L|OPA1_ENST00000361715.2_Silent_p.L30L|OPA1_ENST00000361908.3_Silent_p.L30L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	30					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTTACCACTACAAAAACTAC	0.388000													47	46					0	0	0.003610	0	0
CCDC92	80212	broad.mit.edu	37	12	124421993	124421993	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:124421993C>T	ENST00000545135.1	-	3	3853	c.557G>A	c.(556-558)cGc>cAc	p.R186H	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.R203H|CCDC92_ENST00000545891.1_Missense_Mutation_p.R186H			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	203										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATGCGGCGGCGAGGCGTTTC	0.612000													33	51					0	0	0.002445	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32921915	32921915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:32921915G>T	ENST00000361627.3	+	8	1779	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E353*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	353					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTTAACTTTGAGCTGTTGCC	0.353000													11	33					1.08611e-07	1.27874e-07	0.000978	1	0
FLNB	2317	broad.mit.edu	37	3	58109357	58109357	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:58109357G>A	ENST00000357272.4	+	21	3829	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	FLNB_ENST00000348383.5_Missense_Mutation_p.V1222M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1222M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1053M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1222M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1222M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1222M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1053M			O75369	FLNB_HUMAN	filamin B, beta	1222	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGGTCAAGGTGGAGCCCGC	0.517000													16	33					0	0	0.007413	0	0
LRP11	84918	broad.mit.edu	37	6	150184555	150184555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:150184555G>A	ENST00000239367.2	-	1	607	c.602C>T	c.(601-603)tCg>tTg	p.S201L	LRP11_ENST00000546019.1_Intron|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.S201L	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	201						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CTgccggggcgaggcgcgcgc	0.736000													8	15					0	0	0.003080	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	74					0	0	0.001168	0	0
MOB2	81532	broad.mit.edu	37	11	1491670	1491670	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:1491670C>G	ENST00000329957.6	-	5	728	c.539G>C	c.(538-540)aGa>aCa	p.R180T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	149						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GAACAGGTGTCTGCAGATCTT	0.587000													27	54					0	0	0.004656	0	0
JPH4	84502	broad.mit.edu	37	14	24045142	24045142	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:24045142G>A	ENST00000397118.3	-	4	1805	c.903C>T	c.(901-903)aaC>aaT	p.N301N	JPH4_ENST00000356300.4_Silent_p.N301N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	301					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.N301K(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCGCAGCCCGTTGGAGCGCT	0.746000													5	25					0	0	0.001984	0	0
BRINP2	57795	broad.mit.edu	37	1	177245369	177245369	+	Missense_Mutation	SNP	C	C	G	rs145109858	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:177245369C>G	ENST00000361539.4	+	6	1123	c.811C>G	c.(811-813)Cgc>Ggc	p.R271G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		271						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTGCGTGAGCGCTTTGTAGC	0.562000													9	61					0	0	0.006214	0	0
ABCB11	8647	broad.mit.edu	37	2	169787239	169787239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:169787239C>T	ENST00000263817.6	-	25	3471	c.3347G>A	c.(3346-3348)gGa>gAa	p.G1116E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1116	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTGCCACATCCACTGCTCCC	0.463000													6	19					0	0	0.003080	0	0
DOCK7	85440	broad.mit.edu	37	1	62943474	62943474	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:62943474C>A	ENST00000251157.5	-	43	5531	c.5498G>T	c.(5497-5499)cGt>cTt	p.R1833L	DOCK7_ENST00000340370.5_Missense_Mutation_p.R1813L|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1844	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAACCAACACGAAAATAGGT	0.363000													30	44					1.71298e-08	2.06351e-08	0.003755	1	0
JMJD1C	221037	broad.mit.edu	37	10	64974163	64974163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64974163G>C	ENST00000399262.2	-	8	1982	c.1764C>G	c.(1762-1764)caC>caG	p.H588Q	JMJD1C_ENST00000542921.1_Missense_Mutation_p.H406Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H369Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H369Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	588					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCATGTTCAAGTGATCATTTC	0.393000													5	35					0	0	0.000602	0	0
FGF5	2250	broad.mit.edu	37	4	81196135	81196135	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:81196135C>G	ENST00000312465.7	+	2	654	c.428C>G	c.(427-429)gCg>gGg	p.A143G	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	143					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAATTTTTAGCGATGTCAAAA	0.318000													6	14					0	0	0.001168	0	0
BUB1	699	broad.mit.edu	37	2	111416240	111416240	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:111416240C>T	ENST00000535254.1	-	11	1363	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	BUB1_ENST00000409311.1_Silent_p.T452T|BUB1_ENST00000302759.6_Silent_p.T452T	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	452					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.T452T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTTTGGATGGCGTTGCCTGAA	0.433000													17	34					0	0	0.004990	0	0
IRS2	8660	broad.mit.edu	37	13	110436062	110436062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:110436062G>A	ENST00000375856.3	-	1	2853	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	780					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692000													7	3					0	0	0.003080	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840415	153840415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:153840415G>A	ENST00000356448.4	+	2	918	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.E212K|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E212K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	212					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGTTCTTCGGAACAAAAACT	0.587000													59	50					0	0	0.003610	0	0
CXCL1	2919	broad.mit.edu	37	4	74735491	74735491	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:74735491G>A	ENST00000395761.3	+	2	273	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	69					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GGACCCCACTGCGCCCAAACC	0.652000													65	101					0	0	0.003610	0	0
ZNF665	79788	broad.mit.edu	37	19	53668172	53668172	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:53668172C>A	ENST00000600412.1	-	2	1491	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	ZNF665_ENST00000396424.3_Missense_Mutation_p.S524I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATGAACACTAAAGGCTTT	0.393000													47	121					1.6237e-14	2.11964e-14	0.003214	1	0
PCLO	27445	broad.mit.edu	37	7	82586052	82586052	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82586052G>T	ENST00000423517.2	-	5	4554	c.4217C>A	c.(4216-4218)cCc>cAc	p.P1406H	PCLO_ENST00000333891.8_Missense_Mutation_p.P1406H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1337					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAATCTGAGGGGCTGGAAGG	0.398000													16	59					1.02788e-11	1.30366e-11	0.004990	1	0
ARMC4	55130	broad.mit.edu	37	10	28151364	28151364	+	Splice_Site	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:28151364G>C	ENST00000305242.5	-	18	2890	c.2799_splice	c.e18+1	p.T933_splice	ARMC4_ENST00000537576.1_Splice_Site_p.T625_splice|ARMC4_ENST00000545014.1_Splice_Site_p.T458_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	933							binding	p.T933K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTACTTACTGTATTTGCCAG	0.358000													16	36					0	0	0.003163	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973549	46973549	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:46973549C>T	ENST00000313683.10	-	2	1049	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PNMAL1_ENST00000438932.2_Silent_p.K248K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	248										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCTGGAGTTCTTCTTCTGCT	0.522000													20	142					0	0	0.007413	0	0
NRXN1	9378	broad.mit.edu	37	2	51255050	51255050	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:51255050C>A	ENST00000404971.1	-	2	1701	c.362G>T	c.(361-363)cGc>cTc	p.R121L	NRXN1_ENST00000401669.2_Missense_Mutation_p.R121L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R121L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R121L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R121L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R121L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R121L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	121	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGAACTGGCGGCGGATGCG	0.647000													22	33					2.37509e-13	3.037e-13	0.010504	1	0
ZNF230	7773	broad.mit.edu	37	19	44515025	44515025	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:44515025G>A	ENST00000429154.2	+	5	1062	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGGGAGAAGCCGTTCAAAT	0.423000													21	94					0	0	0.008871	0	0
FAT3	120114	broad.mit.edu	37	11	92523307	92523307	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92523307G>T	ENST00000298047.6	+	7	4551	c.4534G>T	c.(4534-4536)Gac>Tac	p.D1512Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D1512Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1362Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1512	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCGGATTGACCCTAGCAC	0.488000										TCGA Ovarian(4;0.039)			20	107					2.37509e-13	3.037e-13	0.010504	1	0
PAX2	5076	broad.mit.edu	37	10	102584502	102584502	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:102584502G>A	ENST00000370296.2	+	9	1636	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	PAX2_ENST00000428433.1_Silent_p.V362V|PAX2_ENST00000361791.3_Silent_p.V339V|PAX2_ENST00000355243.3_Silent_p.V339V|PAX2_ENST00000556085.1_Silent_p.V338V			Q02962	PAX2_HUMAN	paired box 2	362					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGGAATGGTGCCTGGTAGGT	0.617000													21	99					0	0	0.010504	0	0
GRM1	2911	broad.mit.edu	37	6	146720389	146720389	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:146720389T>A	ENST00000392299.2	+	8	2684	c.2214T>A	c.(2212-2214)agT>agA	p.S738R	GRM1_ENST00000492807.2_Missense_Mutation_p.S738R|GRM1_ENST00000507907.1_Missense_Mutation_p.S738R|GRM1_ENST00000361719.2_Missense_Mutation_p.S738R|GRM1_ENST00000282753.1_Missense_Mutation_p.S738R|GRM1_ENST00000355289.4_Missense_Mutation_p.S738R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	738					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTACCCAAGTATCAAGGAAG	0.493000													46	70					0	0	0.002852	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741362	140741362	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140741362G>C	ENST00000522605.1	+	1	1660	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGTGGGCGACCTCAATGA	0.687000													41	58					0	0	0.009718	0	0
OVCH1	341350	broad.mit.edu	37	12	29597152	29597152	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:29597152A>G	ENST00000318184.5	-	24	2942	c.2943T>C	c.(2941-2943)ccT>ccC	p.P981P	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	981					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATCCTCACAAGGGACCAAGT	0.403000													3	178					0	0	0.004672	0	0
EBAG9	9166	broad.mit.edu	37	8	110575714	110575714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:110575714A>G	ENST00000531677.1	+	6	610	c.610A>G	c.(610-612)Ata>Gta	p.I204V	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATCAGTAAAGATAGAGAGAGT	0.408000													56	263					0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10535187	10535187	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10535187T>A	ENST00000583535.1	-	35	5190	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1701N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1701					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTCCGCCAGTTTCCGGGCCC	0.637000													10	61					0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50450075	50450075	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:50450075A>G	ENST00000442544.2	+	4	1313		c.e4-1		DCC_ENST00000412726.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCCCTCATAGATCCAGGAC	0.343000													14	18					0	0	0.004990	0	0
AXDND1	126859	broad.mit.edu	37	1	179363133	179363133	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:179363133T>A	ENST00000367618.3	+	10	1346	c.959T>A	c.(958-960)tTa>tAa	p.L320*	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.L320*	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	320										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CAGCGCATTTTAGAAGAATTG	0.373000													22	52					0	0	0.002299	0	0
ATR	545	broad.mit.edu	37	3	142242944	142242944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:142242944G>A	ENST00000350721.4	-	22	4164	c.4043C>T	c.(4042-4044)tCt>tTt	p.S1348F	ATR_ENST00000383101.3_Missense_Mutation_p.S1284F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1348					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCGAGCTTGAGAGTTTGCATC	0.413000								Other conserved DNA damage response genes					7	63					0	0	0.003080	0	0
MYEOV	26579	broad.mit.edu	37	11	69063820	69063820	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:69063820C>A	ENST00000535407.1	+	2	1372	c.729C>A	c.(727-729)caC>caA	p.H243Q	MYEOV_ENST00000441339.2_Missense_Mutation_p.H301Q|MYEOV_ENST00000308946.3_Missense_Mutation_p.H301Q			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	301										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcctccaccacctcctcctcc	0.587000													19	8					0.00074312	0.000802261	0.006122	1	0
SEMA3E	9723	broad.mit.edu	37	7	82996904	82996904	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82996904A>G	ENST00000307792.3	-	17	2793	c.2326T>C	c.(2326-2328)Tga>Cga	p.*776R	SEMA3E_ENST00000427262.1_Nonstop_Mutation_p.*716R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	0					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACCCCATCAGGAGTCCAGC	0.408000													5	244					0	0	0.000602	0	0
MAP2K5	5607	broad.mit.edu	37	15	67873104	67873104	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:67873104G>T	ENST00000178640.5	+	4	892	c.265G>T	c.(265-267)Gta>Tta	p.V89L	MAP2K5_ENST00000354498.5_Missense_Mutation_p.V53L|MAP2K5_ENST00000395476.2_Missense_Mutation_p.V89L|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	89	OPR.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTATTCCACAGTAATGGAACA	0.333000													22	54					4.47668e-21	6.07271e-21	0.003954	1	0
MCTP1	79772	broad.mit.edu	37	5	94288963	94288963	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94288963C>G	ENST00000515393.1	-	3	940	c.941G>C	c.(940-942)tGt>tCt	p.C314S	MCTP1_ENST00000312216.8_Missense_Mutation_p.C93S|MCTP1_ENST00000429576.2_Missense_Mutation_p.C93S|MCTP1_ENST00000505208.1_Missense_Mutation_p.C93S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	314	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACCAGAATACAAGCTTTTTC	0.368000													6	21					0	0	0.001984	0	0
PON3	5446	broad.mit.edu	37	7	94996731	94996731	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:94996731T>C	ENST00000265627.5	-	5	447	c.437A>G	c.(436-438)gAg>gGg	p.E146G	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.E146G	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGTTGTTCCTCAAATTTAAA	0.348000													3	132					0	0	0.004672	0	0
GBF1	8729	broad.mit.edu	37	10	104018750	104018750	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:104018750G>A	ENST00000369983.3	+	2	315	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	19					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGTGGTTGGGGCCATCAAACG	0.408000													19	138					0	0	0.010504	0	0
E4F1	1877	broad.mit.edu	37	16	2273689	2273689	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2273689G>A	ENST00000301727.4	+	1	123	c.75G>A	c.(73-75)gcG>gcA	p.A25A	E4F1_ENST00000565090.1_Silent_p.A25A|E4F1_ENST00000564139.1_Silent_p.A25A	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	25					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GGCGGGAAGCGGGCGAGGGTG	0.741000													4	18					0	0	0.009096	0	0
PNMA3	29944	broad.mit.edu	37	X	152226119	152226119	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:152226119T>A	ENST00000447306.1	+	2	1043	c.707T>A	c.(706-708)tTg>tAg	p.L236*	PNMA3_ENST00000370265.4_Nonsense_Mutation_p.L236*|PNMA3_ENST00000370264.4_Nonsense_Mutation_p.L236*	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	236					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ctggctgccttgcagcaggtg	0.552000													52	48					0	0	0.003610	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46051295	46051295	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:46051295A>G	ENST00000536708.2	+	4	368		c.e4-1		CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTTGCTTTCTAGACATTCACT	0.443000													35	115					0	0	0.006230	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48202269	48202269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:48202269C>T	ENST00000396720.3	+	13	3639	c.3445C>T	c.(3445-3447)Cag>Tag	p.Q1149*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1149							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GAAACGCACCCAGGCCATGCT	0.632000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	0.004672	0	0
POGLUT1	56983	broad.mit.edu	37	3	119210421	119210421	+	Splice_Site	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:119210421G>C	ENST00000295588.4	+	10	1106	c.1022_splice	c.e10+1	p.R341_splice		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	341						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATTGCTGAAAGGTGAGTTCTG	0.343000													3	15					0	0	0.009096	0	0
RIN3	79890	broad.mit.edu	37	14	93118018	93118018	+	Silent	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:93118018C>G	ENST00000216487.7	+	6	783	c.624C>G	c.(622-624)tcC>tcG	p.S208S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	208					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCTAGTCTCCAGCCTCAGGC	0.572000													17	65					0	0	0.004990	0	0
NPHP3	27031	broad.mit.edu	37	3	132435712	132435712	+	Missense_Mutation	SNP	C	C	T	rs147399998		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:132435712C>T	ENST00000326682.8	-	4	788	c.712G>A	c.(712-714)Gga>Aga	p.G238R	NPHP3_ENST00000337331.5_Missense_Mutation_p.G238R			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	238					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTTCACTTCCCAAGGCTCCG	0.448000													6	38					0	0	0.001984	0	0
CC2D2B	387707	broad.mit.edu	37	10	97769618	97769618	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:97769618A>G	ENST00000371198.2	+	12	1371	c.331A>G	c.(331-333)Ata>Gta	p.I111V	CC2D2B_ENST00000410012.2_Missense_Mutation_p.I20V|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000344386.3_Missense_Mutation_p.I20V|ENTPD1-AS1_ENST00000451364.1_RNA			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	20										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCACTCATATATAAGAAAGAA	0.318000													4	30					0	0	0.000602	0	0
LHCGR	3973	broad.mit.edu	37	2	48936097	48936097	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:48936097G>T	ENST00000294954.7	-	8	691	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.P224T|LHCGR_ENST00000405626.1_Missense_Mutation_p.P224T|LHCGR_ENST00000401907.1_Missense_Mutation_p.P224T|LHCGR_ENST00000344775.3_Missense_Mutation_p.P224T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	224					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGGTTTTCGGCCCTGTGGCC	0.542000													32	149					6.02846e-25	8.43443e-25	0.003271	1	0
HCCAT5	283902	broad.mit.edu	37	16	73127500	73127500	+	RNA	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:73127500G>C	ENST00000569990.2	+	0	906					NR_027756.1																						GTCGTCTCCTGCAAACAGACA	0.537000													4	8					0	0	0.009096	0	0
MBD6	114785	broad.mit.edu	37	12	57918502	57918502	+	Splice_Site	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:57918502G>A	ENST00000355673.3	+	4	469		c.e4-1		MBD6_ENST00000431731.2_Splice_Site|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6							chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTCTCGCAGTCCAAGTGGC	0.542000													39	47					0	0	0.004878	0	0
METTL17	64745	broad.mit.edu	37	14	21464756	21464756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:21464756G>A	ENST00000339374.6	+	13	1384	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.R384H|METTL17_ENST00000382985.4_Missense_Mutation_p.R384H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	384					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GAGGCTCATCGCTGGCCCCGT	0.512000													16	28					0	0	0.003163	0	0
FAT3	120114	broad.mit.edu	37	11	92088310	92088310	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92088310G>T	ENST00000298047.6	+	1	3049	c.3032G>T	c.(3031-3033)cGg>cTg	p.R1011L	FAT3_ENST00000409404.2_Missense_Mutation_p.R1011L|FAT3_ENST00000525166.1_Missense_Mutation_p.R861L|FAT3_ENST00000541502.1_Missense_Mutation_p.R1011L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1011	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTACTGTGCGGGCCAAAGAC	0.453000										TCGA Ovarian(4;0.039)			12	24					5.50884e-06	6.2049e-06	0.001368	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506852	84506852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84506852C>A	ENST00000286744.5	+	7	836	c.612C>A	c.(610-612)tgC>tgA	p.C204*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C204*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	204						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTGGGCTGCGATCGGCAAC	0.567000													15	62					3.27435e-08	3.91417e-08	0.002450	1	0
EDARADD	128178	broad.mit.edu	37	1	236590709	236590709	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:236590709A>G	ENST00000359362.5	+	4	362	c.148A>G	c.(148-150)Att>Gtt	p.I50V	EDARADD_ENST00000334232.4_Missense_Mutation_p.I60V	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	60					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGTGATACAATTACTTTGAA	0.299000													3	8					0	0	0.004672	0	0
KLHL12	59349	broad.mit.edu	37	1	202887471	202887471	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:202887471G>A	ENST00000367261.3	-	4	613	c.395C>T	c.(394-396)cCt>cTt	p.P132L	KLHL12_ENST00000435533.3_Missense_Mutation_p.P170L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	132					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAATTAGAAGGGTCCAACTG	0.448000													12	57					0	0	0.000978	0	0
FAM86A	196483	broad.mit.edu	37	16	5143491	5143491	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:5143491G>T	ENST00000427587.4	-	3	302	c.234C>A	c.(232-234)atC>atA	p.I78I	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Silent_p.I78I	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	78										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGACCTTTTTGATGAGTTCTG	0.577000													9	43					2.74318e-10	3.42349e-10	0.006214	1	0
NUP205	23165	broad.mit.edu	37	7	135304382	135304382	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:135304382G>T	ENST00000285968.6	+	29	4201	c.4175G>T	c.(4174-4176)gGa>gTa	p.G1392V		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1392					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTCTATTGGAGATTCTTCA	0.363000													7	27					8.12818e-05	8.89822e-05	0.001984	1	0
SDK2	54549	broad.mit.edu	37	17	71390387	71390387	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:71390387G>A	ENST00000392650.3	-	26	3669	c.3669C>T	c.(3667-3669)gtC>gtT	p.V1223V	SDK2_ENST00000388726.3_Silent_p.V1223V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1223	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CAGCCTCGGGGACCTCGCTCC	0.652000													5	19					0	0	0.000602	0	0
WASF1	8936	broad.mit.edu	37	6	110421760	110421760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:110421760C>T	ENST00000392589.1	-	11	2481	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	WASF1_ENST00000392586.1_Missense_Mutation_p.D549N|WASF1_ENST00000392587.2_Missense_Mutation_p.D549N|WASF1_ENST00000392588.1_Missense_Mutation_p.D549N|WASF1_ENST00000359451.2_Missense_Mutation_p.D549N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	549					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AATTCTGAATCATCTTCCGAA	0.393000													11	22					0	0	0.001368	0	0
RNF133	168433	broad.mit.edu	37	7	122338423	122338423	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:122338423T>C	ENST00000340112.2	-	1	787	c.550A>G	c.(550-552)Atc>Gtc	p.I184V	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	184						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATCCAGATGATGTGCTTTCTC	0.378000													28	73					0	0	0.004656	0	0
N6AMT2	221143	broad.mit.edu	37	13	21311925	21311925	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:21311925T>C	ENST00000382758.1	-	3	211	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y55C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	55							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCCTGACTATACCAAAACTG	0.393000													13	16					0	0	0.004007	0	0
CNTN1	1272	broad.mit.edu	37	12	41312540	41312540	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:41312540G>T	ENST00000551295.2	+	4	311	c.194G>T	c.(193-195)tGt>tTt	p.C65F	CNTN1_ENST00000360099.3_Missense_Mutation_p.C65F|CNTN1_ENST00000547849.1_Missense_Mutation_p.C65F|CNTN1_ENST00000347616.1_Missense_Mutation_p.C65F|CNTN1_ENST00000348761.2_Missense_Mutation_p.C54F|CNTN1_ENST00000547702.1_Missense_Mutation_p.C65F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	65	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCACTCAACTGTAGGGCACGA	0.438000													8	60					3.09899e-07	3.62129e-07	0.004482	1	0
MYH15	22989	broad.mit.edu	37	3	108163738	108163738	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:108163738C>A	ENST00000273353.3	-	23	2520	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	822	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATAAGTGCATCCCTAAAT	0.373000													18	28					1.2644e-06	1.45035e-06	0.010504	1	0
NRK	203447	broad.mit.edu	37	X	105178437	105178437	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:105178437G>T	ENST00000428173.2	+	20	3805		c.e20+1		NRK_ENST00000243300.9_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTGCCATCTGTGAGTGTGTT	0.368000										HNSCC(51;0.14)			29	20					2.85442e-18	3.80589e-18	0.002096	1	0
AHNAK	79026	broad.mit.edu	37	11	62293536	62293536	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:62293536C>A	ENST00000378024.4	-	5	8627	c.8353G>T	c.(8353-8355)Gat>Tat	p.D2785Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2785					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACGTCCACATCTGGACCTTCT	0.498000													66	135					1.31726e-23	1.8266e-23	0.003610	1	0
ZNF281	23528	broad.mit.edu	37	1	200378334	200378334	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:200378334T>A	ENST00000294740.2	-	2	624	c.500A>T	c.(499-501)gAa>gTa	p.E167V	ZNF281_ENST00000367353.1_Missense_Mutation_p.E167V|ZNF281_ENST00000367352.3_Missense_Mutation_p.E131V	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	167					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACTCCCCCCTTCACCGCCTCC	0.607000													10	67					0	0	0.008291	0	0
THBS1	7057	broad.mit.edu	37	15	39886511	39886511	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:39886511G>T	ENST00000260356.5	+	21	3540	c.3375G>T	c.(3373-3375)atG>atT	p.M1125I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1125	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTGGTGATGTATGAAGGGA	0.388000													23	40					1.87028e-06	2.12192e-06	0.001882	1	0
IL9R	3581	broad.mit.edu	37	X	155233507	155233507	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:155233507G>T	ENST00000369423.2	+	5	592	c.554G>T	c.(553-555)tGc>tTc	p.C185F	IL9R_ENST00000424344.3_Silent_p.L119L|IL9R_ENST00000244174.5_Silent_p.L140L|IL9R_ENST00000540897.1_Missense_Mutation_p.C175F			Q01113	IL9R_HUMAN	interleukin 9 receptor	149	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGTACCTGCCCCGGAGAC	0.622000													13	24					1.05317e-09	1.28858e-09	0.002450	1	0
IGHV4-59	28392	broad.mit.edu	37	14	107083284	107083284	+	RNA	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:107083284G>C	ENST00000455737.1	-	0	359																											GGCCGTGTCCGCAGCGGTCAC	0.592000													57	109					0	0	0.003610	0	0
PRRC2C	23215	broad.mit.edu	37	1	171505303	171505303	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:171505303C>T	ENST00000367742.3	+	14	2421	c.2179C>T	c.(2179-2181)Cct>Tct	p.P727S	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P725S|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P725S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P727S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	725	Pro-rich.						protein C-terminus binding										GCAGCCTCATCCTCAGCATTT	0.493000													6	15					0	0	0.001168	0	0
OR52E2	119678	broad.mit.edu	37	11	5080588	5080588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:5080588G>T	ENST00000321522.2	-	1	269	c.270C>A	c.(268-270)aaC>aaA	p.N90K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90K(1)|p.N90_L91>KI(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCCTCTGAGGTTGATCCAGA	0.483000													15	25					2.31682e-05	2.56329e-05	0.003163	1	0
SAMSN1	64092	broad.mit.edu	37	21	15870786	15870786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:15870786G>A	ENST00000285670.2	-	8	1274	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.A131V|SAMSN1_ENST00000400566.1_Missense_Mutation_p.A299V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	299					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAGTTTTCAGCAGCTGATAG	0.338000													12	33					0	0	0.001855	0	0
SCN2A	6326	broad.mit.edu	37	2	166172118	166172118	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:166172118A>G	ENST00000375437.2	+	11	1811	c.1521A>G	c.(1519-1521)aaA>aaG	p.K507K	SCN2A_ENST00000375427.2_Silent_p.K507K|SCN2A_ENST00000357398.3_Silent_p.K507K|SCN2A_ENST00000283256.6_Silent_p.K507K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	507					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	gaagaaagaaaaagaaacaga	0.388000													14	29					0	0	0.001855	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062929	41062929	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:41062929G>T	ENST00000352632.3	+	26	5376	c.5289_splice	c.e26-1	p.V1764_splice	SPTBN4_ENST00000338932.3_Splice_Site_p.V1764_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.V507_splice|SPTBN4_ENST00000598249.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000392023.1_Splice_Site_p.V440_splice			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1764					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGATGGCAGGTGCTGCAGGA	0.547000													8	31					1.12685e-05	1.26013e-05	0.004482	1	0
KRT28	162605	broad.mit.edu	37	17	38948796	38948796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:38948796C>A	ENST00000306658.7	-	8	1343	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	426	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CAACCACTGTCTTTACCAGTG	0.348000													10	25					3.86212e-05	4.24289e-05	0.008291	1	0
C6orf118	168090	broad.mit.edu	37	6	165715503	165715503	+	Missense_Mutation	SNP	G	G	T	rs149637046	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165715503G>T	ENST00000230301.8	-	2	328	c.308C>A	c.(307-309)gCg>gAg	p.A103E	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCATCCTCGCCACCTTCCC	0.682000													43	49					6.2361e-21	8.42279e-21	0.007835	1	0
MEF2B	100271849	broad.mit.edu	37	19	19258514	19258514	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:19258514C>A	ENST00000602424.2	-	6	1112	c.386G>T	c.(385-387)cGg>cTg	p.R129L	MEF2B_ENST00000424583.2_Missense_Mutation_p.R129L|MEF2B_ENST00000409447.2_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R146L|MEF2B_ENST00000162023.5_Missense_Mutation_p.R129L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R132L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R129L	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TACATACAGCCGGGGTCGGGG	0.617000													19	45					8.34094e-07	9.60285e-07	0.008871	1	0
ANO4	121601	broad.mit.edu	37	12	101381432	101381432	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:101381432C>A	ENST00000392979.3	+	7	974	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.Q240K|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	240						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCTTTCAGCCAGCAAAGGAT	0.527000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	142					8.16721e-17	1.08433e-16	0.002096	1	0
FMN2	56776	broad.mit.edu	37	1	240492727	240492727	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240492727T>A	ENST00000319653.9	+	10	4626	c.4396T>A	c.(4396-4398)Tca>Aca	p.S1466T	FMN2_ENST00000545751.1_Missense_Mutation_p.S62T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1466	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.S1609T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCATTTGCTCAATTCGTCG	0.408000													13	78					0	0	0.001855	0	0
CHST6	4166	broad.mit.edu	37	16	75512874	75512874	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:75512874G>A	ENST00000332272.4	-	3	1032	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R285C	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	285					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAGCGCACGGATTTCTGCC	0.677000													6	85					0	0	0.001168	0	0
IDS	3423	broad.mit.edu	37	X	148585743	148585743	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:148585743G>C	ENST00000340855.6	-	2	393	c.184C>G	c.(184-186)Cca>Gca	p.P62A	IDS_ENST00000370443.4_Missense_Mutation_p.P62A|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Missense_Mutation_p.P62A|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.P62A	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	62						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCAATATTTGGGGACCTCACC	0.562000													4	9					0	0	0.000602	0	0
ADAL	161823	broad.mit.edu	37	15	43638089	43638089	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:43638089G>A	ENST00000422466.2	+	9	1037	c.463G>A	c.(463-465)Gta>Ata	p.V155I	ADAL_ENST00000389651.4_Missense_Mutation_p.V155I|ADAL_ENST00000562188.1_Missense_Mutation_p.V155I|ADAL_ENST00000428046.3_Missense_Mutation_p.V155I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	155					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGCCCTTTAGTAGCCAAGGA	0.408000													28	49					0	0	0.006320	0	0
PSMC6	5706	broad.mit.edu	37	14	53173987	53173987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53173987T>C	ENST00000445930.2	+	1	98	c.92T>C	c.(91-93)cTt>cCt	p.L31P	PSMC6_ENST00000606149.1_Missense_Mutation_p.L17P			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AAGAAGTTGCTTGAACACAAG	0.537000													7	30					0	0	0.003080	0	0
UBA6	55236	broad.mit.edu	37	4	68490770	68490770	+	Missense_Mutation	SNP	C	C	T	rs140996878		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:68490770C>T	ENST00000322244.4	-	29	2713	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.R885H(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACCAGCTATGCGCTTTGTTTT	0.373000													8	45					0	0	0.003080	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901400	74901400	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:74901400G>T	ENST00000569840.2	+	7	1414	c.840G>T	c.(838-840)caG>caT	p.Q280H	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q280H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q291H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	280						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCACCCAGAGGGACCAGA	0.627000													12	35					5.16669e-11	6.52634e-11	0.000978	1	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567000		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)			25	54					3.65163e-15	4.78701e-15	0.006320	1	0
ARNT2	9915	broad.mit.edu	37	15	80867386	80867386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:80867386C>T	ENST00000533983.1	+	15	1754	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	ARNT2_ENST00000527771.1_Missense_Mutation_p.A472V|ARNT2_ENST00000303329.4_Missense_Mutation_p.A483V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	483					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGGAAAAGGCGGATGCAATC	0.473000													5	131					0	0	0.000602	0	0
MALAT1	378938	broad.mit.edu	37	11	65265869	65265869	+	RNA	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:65265869G>A	ENST00000534336.1	+	0	637				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						ACGGCCCCCGGGGCTCAGGCG	0.617000													17	23					0	0	0.006122	0	0
DXO	1797	broad.mit.edu	37	6	31938542	31938542	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31938542G>A	ENST00000375349.3	-	4	1064	c.653C>T	c.(652-654)tCt>tTt	p.S218F	DOM3Z_ENST00000375356.3_Missense_Mutation_p.S218F|DOM3Z_ENST00000337523.5_Missense_Mutation_p.S218F|DOM3Z_ENST00000478221.1_Intron			O77932	DOM3Z_HUMAN		218							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCGTAGCACAGAGCAGAAGGC	0.622000													6	42					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9062563	9062563	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9062563G>A	ENST00000397910.4	-	3	25086	c.24883C>T	c.(24883-24885)Cct>Tct	p.P8295S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8297	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGAAGCG	0.512000													22	50					0	0	0.002299	0	0
ZNF563	147837	broad.mit.edu	37	19	12433432	12433432	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:12433432T>C	ENST00000293725.5	-	2	302	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	ZNF563_ENST00000595977.1_Missense_Mutation_p.M33V	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTTGCATCACATATCTG	0.433000													24	49					0	0	0.002780	0	0
VPS53	55275	broad.mit.edu	37	17	465756	465756	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:465756C>A	ENST00000437048.2	-	14	1689	c.1543G>T	c.(1543-1545)Ggc>Tgc	p.G515C	VPS53_ENST00000571805.1_Missense_Mutation_p.G515C|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.G317C|VPS53_ENST00000401468.3_Missense_Mutation_p.G238C|VPS53_ENST00000291074.5_Missense_Mutation_p.G486C	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	515					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCAGGTTGCCAGAGAGGATT	0.478000													22	59					1.85244e-09	2.25766e-09	0.003330	1	0
SIAH1	6477	broad.mit.edu	37	16	48399304	48399304	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:48399304T>A	ENST00000356721.3	-	1	508	c.85A>T	c.(85-87)Aga>Tga	p.R29*	SIAH1_ENST00000394725.2_Intron|SIAH1_ENST00000573005.1_5'UTR	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATACCTTTTCTCTTCCTTGTC	0.507000													5	20					0	0	0.000602	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249143	90249143	+	RNA	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:90249143G>A	ENST00000468879.1	+	0	280																											CATTCTCCCTGTCTGCATCTG	0.458000													32	241					0	0	0.002096	0	0
BARHL2	343472	broad.mit.edu	37	1	91180103	91180103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:91180103C>T	ENST00000370445.4	-	2	877	c.836G>A	c.(835-837)tGg>tAg	p.W279*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	279						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTTCTGGTACCAGGTCTTGAC	0.547000													43	52					0	0	0.009718	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695058	26695058	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:26695058T>G	ENST00000396005.3	-	14	1907	c.1598A>C	c.(1597-1599)gAt>gCt	p.D533A		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	533					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGGTTGAATATCCTCACCTCT	0.373000													13	103					0	0	0.004007	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030851	21030851	+	Silent	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:21030851T>A	ENST00000381545.3	+	10	1335	c.1116T>A	c.(1114-1116)tcT>tcA	p.S372S	LST3_ENST00000540229.1_Silent_p.S372S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S372S|SLCO1B3_ENST00000261196.2_Silent_p.S372S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	372					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTCTGCATCTCATGCTAACT	0.328000													17	53					0	0	0.007413	0	0
UGT1A6	54578	broad.mit.edu	37	2	234680964	234680964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:234680964C>T	ENST00000305139.6	+	5	1497	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	UGT1A1_ENST00000305208.5_Missense_Mutation_p.P454L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.P186L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.P451L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.P455L|UGT1A8_ENST00000373450.4_Missense_Mutation_p.P451L|UGT1A9_ENST00000354728.4_Missense_Mutation_p.P451L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.P451L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.P455L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.P455L	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCGGTGGAGCCGCTGGACCTG	0.587000													15	84					0	0	0.003163	0	0
NPAS3	64067	broad.mit.edu	37	14	33684540	33684540	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:33684540T>A	ENST00000346562.2	+	2	277	c.203T>A	c.(202-204)aTt>aAt	p.I68N	NPAS3_ENST00000551492.1_Missense_Mutation_p.I105N|NPAS3_ENST00000356141.4_Missense_Mutation_p.I98N|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.I98N|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.I68N|NPAS3_ENST00000548645.1_Missense_Mutation_p.I68N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGACTTACAATTAGCTATCTG	0.463000													34	66					0	0	0.002096	0	0
DPPA2	151871	broad.mit.edu	37	3	109031513	109031513	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:109031513A>T	ENST00000478945.1	-	3	306	c.60T>A	c.(58-60)gaT>gaA	p.D20E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	20						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTTTCCTCATCATCTACTT	0.408000													8	82					0	0	0.003080	0	0
APAF1	317	broad.mit.edu	37	12	99056319	99056319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:99056319G>T	ENST00000357310.1	+	6	1373	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	APAF1_ENST00000551964.1_Missense_Mutation_p.D266Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D266Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D266Y|APAF1_ENST00000552268.1_Missense_Mutation_p.D266Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D266Y|APAF1_ENST00000333991.1_Missense_Mutation_p.D266Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D255Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D255Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	266	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.D266Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TACAACCAGAGACAAGAGTGT	0.313000													17	25					2.48551e-13	3.16521e-13	0.004990	1	0
CRP	1401	broad.mit.edu	37	1	159683905	159683905	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:159683905A>G	ENST00000255030.5	-	2	188	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	CRP_ENST00000368112.1_Missense_Mutation_p.F29L|CRP_ENST00000343919.2_Missense_Mutation_p.F29L|CRP_ENST00000368111.1_Missense_Mutation_p.F29L|CRP_ENST00000437342.1_Intron|CRP_ENST00000368110.1_Missense_Mutation_p.F29L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	29	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCTTTGGGAAACACAAAAGCC	0.458000													11	78					0	0	0.001368	0	0
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	A	rs146112511		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:103342623C>A	ENST00000370162.3	-	7	1585	c.1091G>T	c.(1090-1092)cGc>cTc	p.R364L	POLL_ENST00000299206.4_Missense_Mutation_p.R364L|POLL_ENST00000370168.3_Missense_Mutation_p.R37L|POLL_ENST00000370169.1_Missense_Mutation_p.R364L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R89L|POLL_ENST00000339310.3_Missense_Mutation_p.R87L|POLL_ENST00000370172.1_Missense_Mutation_p.R276L|POLL_ENST00000456836.2_Missense_Mutation_p.R101L|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552000								DNA polymerases (catalytic subunits)					14	89					3.27435e-08	3.91417e-08	0.002450	1	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000													6	17					0	0	0.008291	0	0
NPAP1	23742	broad.mit.edu	37	15	24923749	24923749	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:24923749G>T	ENST00000329468.2	+	1	3209	c.2735G>T	c.(2734-2736)aGt>aTt	p.S912I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AAGTCTGACAGTTCTTTTATT	0.488000													42	114					1.07121e-22	1.47232e-22	0.006999	1	0
CLP1	10978	broad.mit.edu	37	11	57428484	57428484	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:57428484T>C	ENST00000533682.1	+	3	1579	c.854T>C	c.(853-855)gTg>gCg	p.V285A	CLP1_ENST00000302731.4_Missense_Mutation_p.V221A|CLP1_ENST00000525602.1_Missense_Mutation_p.V285A|CLP1_ENST00000529430.1_Missense_Mutation_p.V296A			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	285					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCTGGGGGTGTGGTGGAGCGC	0.512000													3	144					0	0	0.004672	0	0
MTL5	9633	broad.mit.edu	37	11	68506204	68506204	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506204G>C	ENST00000255087.5	-	6	1064	c.881C>G	c.(880-882)tCa>tGa	p.S294*	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S294*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	294					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGAAGAGTTGATCCCGAGGG	0.408000													93	174					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9086084	9086084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9086084G>A	ENST00000397910.4	-	1	5934	c.5731C>T	c.(5731-5733)Cga>Tga	p.R1911*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1911	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCAGGTCGGGGATGGATT	0.488000													11	27					0	0	0.008291	0	0
MYO18A	399687	broad.mit.edu	37	17	27447762	27447762	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:27447762C>T	ENST00000527372.1	-	7	1780	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A534T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A534T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A534T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	534	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGTACAGAGCCTGCCACTTC	0.567000													25	49					0	0	0.003954	0	0
VARS	7407	broad.mit.edu	37	6	31752467	31752467	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31752467C>A	ENST00000375663.3	-	11	1812	c.1372G>T	c.(1372-1374)Gcc>Tcc	p.A458S	VARS_ENST00000444930.2_Missense_Mutation_p.A163S	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	458					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGACAAAGGCCTCTGTCACA	0.592000													24	53					4.47668e-21	6.07271e-21	0.003954	1	0
MADD	8567	broad.mit.edu	37	11	47306595	47306595	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:47306595G>A	ENST00000342922.4	+	13	2618	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	MADD_ENST00000407859.3_Missense_Mutation_p.R754H|MADD_ENST00000406482.1_Missense_Mutation_p.R754H|MADD_ENST00000395336.3_Missense_Mutation_p.R754H|MADD_ENST00000402192.2_Missense_Mutation_p.R754H|MADD_ENST00000349238.3_Missense_Mutation_p.R754H|MADD_ENST00000402799.1_Missense_Mutation_p.R754H|MADD_ENST00000395344.3_Missense_Mutation_p.R754H|MADD_ENST00000311027.5_Missense_Mutation_p.R754H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	754					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGGACAGACGTCAGGCAGAA	0.557000													6	90					0	0	0.001168	0	0
ZNF658	26149	broad.mit.edu	37	9	40772546	40772546	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:40772546T>C	ENST00000602553.1	-	5	3023	c.2729A>G	c.(2728-2730)tAt>tGt	p.Y910C	ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910C|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTGCATTCATAGGGTTTCTC	0.443000													139	120					0	0	0.003610	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677883	54677883	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:54677883T>G	ENST00000245615.1	-	8	1754	c.1274A>C	c.(1273-1275)tAc>tCc	p.Y425S	MBOAT7_ENST00000338624.6_Missense_Mutation_p.Y352S|MBOAT7_ENST00000431666.2_Missense_Mutation_p.Y352S	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	425					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGGCCCAGTACCGAAGGGT	0.637000													18	103					0	0	0.004990	0	0
ZNF425	155054	broad.mit.edu	37	7	148801945	148801945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:148801945G>A	ENST00000378061.2	-	4	1150	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCTTCAGGCGGAAGCACCGG	0.662000													10	45					0	0	0.006214	0	0
RASEF	158158	broad.mit.edu	37	9	85616027	85616027	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:85616027A>T	ENST00000376447.3	-	10	1481	c.1221T>A	c.(1219-1221)taT>taA	p.Y407*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	407					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CCTCATCCACATAGGAAGAGC	0.502000													9	34					0	0	0.006214	0	0
LRFN5	145581	broad.mit.edu	37	14	42360587	42360587	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:42360587A>G	ENST00000298119.4	+	4	2709	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	507						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTTGCATCCAGTTTACTACG	0.433000										HNSCC(30;0.082)			25	95					0	0	0.003330	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100273	39100273	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:39100273G>C	ENST00000591517.1	-	13	997	c.969C>G	c.(967-969)cgC>cgG	p.R323R	MAP4K1_ENST00000586296.1_Silent_p.R323R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.R323R|MAP4K1_ENST00000589130.1_Silent_p.R319R|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	323					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGCTGGAGCGGTGGGTGG	0.592000													8	29					0	0	0.004482	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948568	2948568	+	Missense_Mutation	SNP	G	G	T	rs145397970	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:2948568G>T	ENST00000380520.1	-	6	3089	c.1095C>A	c.(1093-1095)aaC>aaA	p.N365K	SERPINB6_ENST00000380529.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.N365K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.N365K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.N365K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	365					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGAGAATCCCGTTGGTCTTGC	0.602000													34	36					5.97227e-30	8.46976e-30	0.002096	1	0
SP4	6671	broad.mit.edu	37	7	21469118	21469118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:21469118C>T	ENST00000222584.3	+	3	553	c.335C>T	c.(334-336)tCa>tTa	p.S112L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	112					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CCTCCTGCTTCAAAAGAGAAT	0.438000													17	56					0	0	0.007413	0	0
ABCA3	21	broad.mit.edu	37	16	2333222	2333222	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2333222C>A	ENST00000301732.5	-	26	4700	c.4000G>T	c.(4000-4002)Ggc>Tgc	p.G1334C	ABCA3_ENST00000382381.3_Missense_Mutation_p.G1276C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1334					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGAGGATGCCCCTGAGTCTC	0.672000													23	39					3.8784e-16	5.10575e-16	0.001882	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151239718	151239718	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:151239718G>A	ENST00000367321.3	+	9	1172	c.898G>A	c.(898-900)Gtt>Att	p.V300I		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	300	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TACAGGGAAGGTTGGGTGTGG	0.413000													28	42					0	0	0.004656	0	0
IARS	3376	broad.mit.edu	37	9	95027219	95027219	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95027219G>C	ENST00000375643.3	-	16	1958	c.1692C>G	c.(1690-1692)acC>acG	p.T564T	IARS_ENST00000443024.2_Silent_p.T564T|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.T454T	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	564					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCATCCTCTGGTTTGGTCGA	0.423000													9	35					0	0	0.004482	0	0
GSR	2936	broad.mit.edu	37	8	30546804	30546804	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:30546804C>T	ENST00000221130.5	-	9	1005	c.915G>A	c.(913-915)ttG>ttA	p.L305L	GSR_ENST00000414019.1_Silent_p.L262L|GSR_ENST00000546342.1_Silent_p.L276L|GSR_ENST00000541648.1_Intron|GSR_ENST00000537535.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	305					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGCTGACTTCCAAGCCCGACA	0.502000													27	27					0	0	0.007291	0	0
SPG11	80208	broad.mit.edu	37	15	44890998	44890998	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:44890998C>A	ENST00000261866.7	-	22	3739	c.3723G>T	c.(3721-3723)ggG>ggT	p.G1241G	SPG11_ENST00000535302.2_Silent_p.G1241G|SPG11_ENST00000427534.2_Silent_p.G1241G|SPG11_ENST00000558319.1_Silent_p.G1241G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1241					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGGAGGAGAGCCCTATAACAT	0.418000													18	37					3.41278e-10	4.24218e-10	0.004990	1	0
KIRREL	55243	broad.mit.edu	37	1	158047873	158047873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:158047873G>T	ENST00000368173.3	+	3	699	c.295G>T	c.(295-297)Gag>Tag	p.E99*	KIRREL_ENST00000359209.6_Nonsense_Mutation_p.E99*|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.E38*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.E99*	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	99	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGCCTCTTACGAGTGCCAGGC	0.627000													35	87					1.60099e-16	2.11656e-16	0.004878	1	0
CYP2E1	1571	broad.mit.edu	37	10	135346244	135346244	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:135346244A>T	ENST00000463117.2	+	7	969	c.697A>T	c.(697-699)Aga>Tga	p.R233*	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R233*			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	233					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGGAAGCCACAGAAAAGTCAT	0.408000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				26	174					0	0	0.003954	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743820	135743820	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:135743820A>T	ENST00000375845.3	-	7	2652	c.2622T>A	c.(2620-2622)aaT>aaA	p.N874K	MAP3K19_ENST00000392915.1_Missense_Mutation_p.N891K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N761K|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GAGATGCTGTATTCTGCTTTT	0.378000													22	42					0	0	0.002299	0	0
PCLO	27445	broad.mit.edu	37	7	82390032	82390032	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82390032C>A	ENST00000333891.8	-	24	15548	c.15211G>T	c.(15211-15213)Gta>Tta	p.V5071L		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4994					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCTGCATACTCTTGTTTTT	0.333000													9	36					1.12685e-05	1.26013e-05	0.004482	1	0
OR7G2	390882	broad.mit.edu	37	19	9213532	9213532	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9213532G>T	ENST00000305456.2	-	1	450	c.451C>A	c.(451-453)Ctt>Att	p.L151I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTGTATCTAAGGGGGTGACAA	0.498000													15	28					1.05317e-09	1.28858e-09	0.002450	1	0
VSNL1	7447	broad.mit.edu	37	2	17836566	17836566	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:17836566A>T	ENST00000406397.1	+	4	1006	c.481A>T	c.(481-483)Aac>Tac	p.N161Y	VSNL1_ENST00000404666.2_Missense_Mutation_p.N161Y|VSNL1_ENST00000295156.4_Missense_Mutation_p.N161Y			P62760	VISL1_HUMAN	visinin-like 1	161	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGATAAGAACAAAGATGA	0.428000													26	26					0	0	0.003330	0	0
SH3GL3	6457	broad.mit.edu	37	15	84255793	84255793	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84255793A>T	ENST00000324537.5	+	10	1199	c.707A>T	c.(706-708)cAg>cTg	p.Q236L	SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q228L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q228L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q236L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	228	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TATCACAGACAGTCCACAGAG	0.502000													5	17					0	0	0.001168	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420881	72420881	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:72420881G>C	ENST00000340595.3	+	18	2783	c.2587G>C	c.(2587-2589)Ggt>Cgt	p.G863R	SLC4A4_ENST00000351898.6_Missense_Mutation_p.G823R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G907R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G907R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	907						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGTACTCTATGGTGTGTTCCT	0.328000													28	210					0	0	0.002096	0	0
OR6M1	390261	broad.mit.edu	37	11	123676665	123676665	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:123676665C>A	ENST00000309154.2	-	1	430	c.393G>T	c.(391-393)acG>acT	p.T131T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCATGATGACCGTGTAGTGCA	0.517000													19	20					1.64113e-05	1.82218e-05	0.010504	1	0
EGR2	1959	broad.mit.edu	37	10	64575770	64575770	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64575770A>G	ENST00000242480.3	-	1	345	c.20T>C	c.(19-21)gTa>gCa	p.V7A	EGR2_ENST00000411732.1_Intron|EGR2_ENST00000439032.1_Missense_Mutation_p.V7A|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	7					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GATTTTGTCTACGGCCTTGGC	0.562000													72	90					0	0	0.003610	0	0
CASS4	57091	broad.mit.edu	37	20	55026880	55026880	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:55026880G>T	ENST00000371336.3	+	5	849	c.648G>T	c.(646-648)caG>caT	p.Q216H	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.Q216H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	216					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACAGGGGCAGGGTGTTCCCC	0.502000													18	48					1.00905e-13	1.30632e-13	0.008871	1	0
UPK3B	80761	broad.mit.edu	37	7	76140092	76140092	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:76140092C>A	ENST00000419923.2	+	1	348	c.123C>A	c.(121-123)acC>acA	p.T41T	UPK3B_ENST00000448265.3_Silent_p.T41T|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000257632.5_Silent_p.T41T|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	41					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCAGCCAGACCCAAGGGGCTG	0.706000													7	22					1.58986e-06	1.81036e-06	0.008291	1	0
CREB3L1	90993	broad.mit.edu	37	11	46332681	46332681	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:46332681A>G	ENST00000529193.1	+	5	1145	c.694A>G	c.(694-696)Agg>Ggg	p.R232G	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R232G			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	232					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGCCCTGTCAGGCCCATGGC	0.667000			T	FUS	myxofibrosarcoma								3	70					0	0	0.004672	0	0
COBL	23242	broad.mit.edu	37	7	51097136	51097136	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:51097136C>G	ENST00000395542.2	-	12	2087	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	COBL_ENST00000265136.7_Missense_Mutation_p.D553H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	553										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCCCGAATCCACAGGATCA	0.527000													22	55					0	0	0.010504	0	0
ZXDA	7789	broad.mit.edu	37	X	57934507	57934507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:57934507G>C	ENST00000358697.4	-	1	2560	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	783					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTCTTTCTGAGAACCATGGTT	0.448000													25	16					0	0	0.002780	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595389	167595389	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:167595389G>A	ENST00000366832.2	+	8	1178	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	349										endometrium(1)|kidney(2)|lung(3)	6						CCTCCAGACAGGACATGGGGC	0.517000													18	8					0	0	0.001882	0	0
CERCAM	51148	broad.mit.edu	37	9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:131193524G>A	ENST00000372842.1	+	10	4055	c.911G>A	c.(910-912)cGc>cAc	p.R304H	CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627000													4	123					0	0	0.009096	0	0
PTCD3	55037	broad.mit.edu	37	2	86352147	86352147	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:86352147C>T	ENST00000254630.7	+	10	812	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PTCD3_ENST00000409277.3_Missense_Mutation_p.L208F	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	249						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AGAATCTTTTCTCTAATGCCA	0.368000													5	35					0	0	0.000602	0	0
KCNK18	338567	broad.mit.edu	37	10	118957108	118957108	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:118957108G>T	ENST00000334549.1	+	1	109	c.109G>T	c.(109-111)Ggt>Tgt	p.G37C		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	37						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CGCCCTGGTGGGTGCTGTGGT	0.597000													29	27					9.39395e-14	1.22121e-13	0.006320	1	0
ACSS3	79611	broad.mit.edu	37	12	81472018	81472018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:81472018C>T	ENST00000548058.1	+	1	1029	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P40L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	40						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTAGTGGTCCCGGGCCCGCGG	0.731000													3	19					0	0	0.004672	0	0
POGLUT1	56983	broad.mit.edu	37	3	119199009	119199009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:119199009G>C	ENST00000295588.4	+	5	652	c.568G>C	c.(568-570)Gat>Cat	p.D190H		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	190						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTTCAGAGAAGATCTGGTAAG	0.383000													10	34					0	0	0.008291	0	0
MC2R	4158	broad.mit.edu	37	18	13884633	13884633	+	Missense_Mutation	SNP	C	C	G	rs147683219		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:13884633C>G	ENST00000327606.3	-	2	1065	c.885G>C	c.(883-885)agG>agC	p.R295S		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	295					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCTACCAGTACCTGCTGCAGA	0.478000													18	57					0	0	0.007413	0	0
IRAK4	51135	broad.mit.edu	37	12	44180289	44180289	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:44180289G>A	ENST00000431837.1	+	10	1212	c.904G>A	c.(904-906)Gtt>Att	p.V302I	IRAK4_ENST00000440781.2_Missense_Mutation_p.V302I|IRAK4_ENST00000448290.2_Missense_Mutation_p.V426I|IRAK4_ENST00000551736.1_Missense_Mutation_p.V426I	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	426	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCCACTTCAGTTGAAGCTAT	0.284000													16	87					0	0	0.004990	0	0
MTL5	9633	broad.mit.edu	37	11	68506237	68506237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506237G>A	ENST00000255087.5	-	6	1031	c.848C>T	c.(847-849)tCg>tTg	p.S283L	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S283L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	283					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTTGACTACCGATGGTAAGGC	0.438000													78	157					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8741079	8741079	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:8741079A>G	ENST00000378641.3	+	25	3157	c.2682A>G	c.(2680-2682)acA>acG	p.T894T	PLCB1_ENST00000378637.2_Silent_p.T894T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.T894T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	894					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGCCAAAACAGAAGATCTTA	0.358000													5	14					0	0	0.001168	0	0
ECM2	1842	broad.mit.edu	37	9	95274325	95274325	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95274325T>A	ENST00000344604.5	-	5	1287	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S	ECM2_ENST00000444490.2_Missense_Mutation_p.T358S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	380					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CCTGAAGAAGTGATATTATTT	0.403000													11	50					0	0	0.001855	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406412	148406412	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:148406412G>A	ENST00000394358.2	-	12	2990	c.2538C>T	c.(2536-2538)gtC>gtT	p.V846V	SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000538184.1_Intron|SH3TC2_ENST00000512049.1_Intron			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCATGGGACATACTTAC	0.433000													20	126					0	0	0.007413	0	0
SIAH3	283514	broad.mit.edu	37	13	46357673	46357673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:46357673G>A	ENST00000400405.2	-	2	761	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	219					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGAACAGACCGGGGCGTGGCC	0.617000													22	26					0	0	0.002780	0	0
IL5RA	3568	broad.mit.edu	37	3	3146617	3146617	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:3146617G>T	ENST00000446632.2	-	3	626	c.52C>A	c.(52-54)Ctg>Atg	p.L18M	IL5RA_ENST00000430514.2_Missense_Mutation_p.L18M|IL5RA_ENST00000418488.2_Missense_Mutation_p.L18M|IL5RA_ENST00000383846.1_Missense_Mutation_p.L18M|IL5RA_ENST00000311981.8_Missense_Mutation_p.L18M|IL5RA_ENST00000256452.3_Missense_Mutation_p.L18M|IL5RA_ENST00000456302.1_Missense_Mutation_p.L18M|IL5RA_ENST00000438560.1_Missense_Mutation_p.L18M|IL5RA_ENST00000445864.2_Missense_Mutation_p.L18M	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	18					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCAGCTTGCAGTATCTCAGTG	0.333000													7	12					5.68852e-11	7.15653e-11	0.004482	1	0
TAF1	6872	broad.mit.edu	37	X	70612767	70612767	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:70612767A>G	ENST00000449580.1	+	20	3022	c.2971A>G	c.(2971-2973)Aca>Gca	p.T991A	TAF1_ENST00000423759.1_Missense_Mutation_p.T1012A|TAF1_ENST00000373790.4_Missense_Mutation_p.T991A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1012A			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	991					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGACAGGAACAGATGCAGA	0.428000													52	31					0	0	0.003610	0	0
CDIPT	10423	broad.mit.edu	37	16	29872572	29872572	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:29872572A>T	ENST00000219789.6	-	3	1065	c.187T>A	c.(187-189)Ttt>Att	p.F63I	CDIPT_ENST00000570016.1_Missense_Mutation_p.F63I|CDIPT_ENST00000563415.1_Missense_Mutation_p.F63I|CDIPT_ENST00000561555.1_Missense_Mutation_p.F87I|CDIPT_ENST00000569956.1_Missense_Mutation_p.F63I|CDIPT_ENST00000566113.1_Missense_Mutation_p.F18I	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	63						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						ATGGCCCCAAACCGGGTTCCT	0.562000													10	25					0	0	0.000978	0	0
LPAR3	23566	broad.mit.edu	37	1	85331581	85331581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:85331581C>T	ENST00000440886.1	-	1	261	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.A75T			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	75					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGAAATCGGCAGCAGCTAAA	0.423000													22	108					0	0	0.010504	0	0
MECOM	2122	broad.mit.edu	37	3	168838941	168838941	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:168838941G>T	ENST00000464456.1	-	6	1671	c.471C>A	c.(469-471)gcC>gcA	p.A157A	MECOM_ENST00000494292.1_Silent_p.A345A|MECOM_ENST00000433243.2_Silent_p.A158A|MECOM_ENST00000468789.1_Silent_p.A157A|MECOM_ENST00000472280.1_Silent_p.A158A|MECOM_ENST00000392736.3_Silent_p.A157A|MECOM_ENST00000264674.3_Silent_p.A222A|MECOM_ENST00000460814.1_Silent_p.A157A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGGGCCCGGGCACCGACAT	0.512000													49	47					3.21987e-24	4.48482e-24	0.003610	1	0
METTL17	64745	broad.mit.edu	37	14	21464757	21464757	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:21464757C>T	ENST00000339374.6	+	13	1385	c.1152C>T	c.(1150-1152)cgC>cgT	p.R384R	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R384R|METTL17_ENST00000382985.4_Silent_p.R384R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	384					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						AGGCTCATCGCTGGCCCCGTA	0.517000													17	25					0	0	0.004007	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866933	140866933	+	Silent	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140866933T>C	ENST00000306593.1	+	1	2193	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														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)			CTGGCACCTGTGCCTGTCTCA	0.537000													8	61					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479262	25479262	+	RNA	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:25479262C>T	ENST00000453082.2	+	0	1803					NR_003343.1																						CAGTGTACGTCAGCCAGGTGC	0.592000													15	27					0	0	0.003163	0	0
YWHAG	7532	broad.mit.edu	37	7	75988084	75988084	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:75988084G>T	ENST00000307630.3	-	1	264	c.42C>A	c.(40-42)gcC>gcA	p.A14A		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	14					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCGCCTGCTCGGCCAGCCGGG	0.697000													17	40					6.94344e-10	8.56267e-10	0.006122	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317109	30317109	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:30317109T>A	ENST00000375377.1	-	3	2069	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	656										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGTCTTCTTCTGGTTCCC	0.522000													11	47					0	0	0.008291	0	0
ABCC2	1244	broad.mit.edu	37	10	101578649	101578649	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:101578649G>T	ENST00000370449.4	+	18	2487	c.2374G>T	c.(2374-2376)Gat>Tat	p.D792Y		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	792	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGCAGTGGATGCTCATGT	0.433000													30	22					4.43304e-23	6.11994e-23	0.006320	1	0
IGDCC3	9543	broad.mit.edu	37	15	65667661	65667661	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:65667661C>A	ENST00000327987.4	-	2	434	c.183G>T	c.(181-183)ctG>ctT	p.L61L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	61	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTGCAGTCCAGCACTATAG	0.592000													9	28					3.07112e-06	3.4717e-06	0.000978	1	0
HERC1	8925	broad.mit.edu	37	15	63986610	63986610	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:63986610T>A	ENST00000443617.2	-	29	5468	c.5381A>T	c.(5380-5382)cAg>cTg	p.Q1794L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1794					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGCAGGGGCTGTCCTAGCAT	0.473000													18	40					0	0	0.006122	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559713	44559713	+	Missense_Mutation	SNP	C	C	T	rs143582553		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:44559713C>T	ENST00000332567.4	-	1	2275	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	641	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGAAACAGATCATCTTTGCCT	0.537000													68	80					0	0	0.003610	0	0
PTPRO	5800	broad.mit.edu	37	12	15637161	15637161	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:15637161G>T	ENST00000281171.4	+	2	659	c.329G>T	c.(328-330)aGa>aTa	p.R110I	PTPRO_ENST00000348962.2_Missense_Mutation_p.R110I|PTPRO_ENST00000543886.1_Missense_Mutation_p.R110I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	110	Fibronectin type-III 1.					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)				AAGCCATCCAGATCAATCACT	0.413000													10	38					7.48243e-07	8.6785e-07	0.006214	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939293	150939293	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:150939293G>A	ENST00000392811.2	-	7	1040	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SMARCD3_ENST00000262188.8_Missense_Mutation_p.S202F|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000356800.2_Missense_Mutation_p.S189F	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	202					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGAAAGAAGAGAACTTCCG	0.547000													24	130					0	0	0.002780	0	0
TRHDE	29953	broad.mit.edu	37	12	72956711	72956711	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:72956711A>G	ENST00000261180.4	+	9	1894	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	600					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCCTGTTATCACCATCTT	0.328000													9	70					0	0	0.006214	0	0
GLRA2	2742	broad.mit.edu	37	X	14708939	14708939	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:14708939G>A	ENST00000218075.4	+	8	1568	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	GLRA2_ENST00000443437.2_Silent_p.K257K|GLRA2_ENST00000355020.4_Silent_p.K346K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	346					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGCAACACAAGGAGTTCCTGC	0.488000													21	19					0	0	0.008871	0	0
AXIN1	8312	broad.mit.edu	37	16	339603	339603	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:339603T>C	ENST00000262320.3	-	10	2670	c.2299A>G	c.(2299-2301)Aga>Gga	p.R767G	AXIN1_ENST00000354866.3_Missense_Mutation_p.R731G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	767	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTGCGATCTTGTCCTGGGG	0.637000													8	28					0	0	0.008291	0	0
ATP8A1	10396	broad.mit.edu	37	4	42576696	42576696	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:42576696C>G	ENST00000381668.5	-	14	1466	c.1235G>C	c.(1234-1236)gGt>gCt	p.G412A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G412A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	412					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAGAGTACCAGTTTTGTC	0.323000													4	24					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38976617	38976617	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:38976617G>A	ENST00000355481.4	+	34	5453	c.5322G>A	c.(5320-5322)ccG>ccA	p.P1774P	RYR1_ENST00000360985.3_Silent_p.P1774P|RYR1_ENST00000359596.3_Silent_p.P1774P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1774	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGGCCCCCGCATCATTTCT	0.692000													8	81					0	0	0.003080	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493179	220493179	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:220493179A>G	ENST00000358055.3	+	3	616	c.104A>G	c.(103-105)gAc>gGc	p.D35G	SLC4A3_ENST00000373762.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D35G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D35G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	35					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGAGGAGGACGATGACTTG	0.657000													5	19					0	0	0.000602	0	0
DACH2	117154	broad.mit.edu	37	X	85969652	85969652	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:85969652A>G	ENST00000373131.1	+	5	1157	c.994A>G	c.(994-996)Act>Gct	p.T332A	DACH2_ENST00000508860.1_Missense_Mutation_p.T178A|DACH2_ENST00000373125.4_Missense_Mutation_p.T345A|DACH2_ENST00000510272.1_Missense_Mutation_p.T126A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCATCTCAATACTATTGCCAA	0.448000													18	21					0	0	0.007413	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601480	48601480	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:48601480C>A	ENST00000354276.3	-	6	811	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V172L|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V162L|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.V162L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	162	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTCTTCCACGGGCTTCTTC	0.527000													27	82					1.75199e-13	2.25876e-13	0.007291	1	0
CHD6	84181	broad.mit.edu	37	20	40033381	40033381	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:40033381G>A	ENST00000373233.3	-	37	8177	c.8000C>T	c.(7999-8001)tCc>tTc	p.S2667F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2667					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCTGGGTGGGAGTTGGGGTT	0.587000													35	101					0	0	0.003755	0	0
CHST1	8534	broad.mit.edu	37	11	45672189	45672189	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:45672189G>A	ENST00000308064.2	-	4	955	c.285C>T	c.(283-285)caC>caT	p.H95H		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	95					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGTTCTGGACGTGGTAGAGGG	0.657000													30	72					0	0	0.008361	0	0
HSDL1	83693	broad.mit.edu	37	16	84163848	84163848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:84163848G>A	ENST00000219439.4	-	4	585	c.409C>T	c.(409-411)Cga>Tga	p.R137*	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	137						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AGGGCTTCTCGAATTGGAAGG	0.473000													8	151					0	0	0.003080	0	0
MEF2C	4208	broad.mit.edu	37	5	88047801	88047801	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:88047801A>C	ENST00000504921.2	-	5	1134	c.462T>G	c.(460-462)agT>agG	p.S154R	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.S172R|MEF2C_ENST00000506554.1_Missense_Mutation_p.S154R|MEF2C_ENST00000539796.1_Missense_Mutation_p.S106R|MEF2C_ENST00000437473.2_Missense_Mutation_p.S154R|MEF2C_ENST00000510942.1_Missense_Mutation_p.S154R|MEF2C_ENST00000508569.1_Missense_Mutation_p.S154R|MEF2C_ENST00000514015.1_Missense_Mutation_p.S154R|MEF2C_ENST00000514028.1_Missense_Mutation_p.S154R|MEF2C_ENST00000424173.2_Missense_Mutation_p.S152R			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	154	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTACACCAAACTGTTGTGGC	0.493000										HNSCC(66;0.2)			13	89					0	0	0.001855	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271403	26271403	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26271403G>A	ENST00000305910.3	-	1	209	c.210C>T	c.(208-210)cgC>cgT	p.R70R		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	70				R -> C (in Ref. 13; AAH67493).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCGCACCAGGCGTTGGAAAG	0.602000													12	138					0	0	0.001368	0	0
PZP	5858	broad.mit.edu	37	12	9317736	9317736	+	Splice_Site	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:9317736C>A	ENST00000261336.2	-	19	2514	c.2487_splice	c.e19+1	p.R829_splice	PZP_ENST00000381997.2_Splice_Site_p.R698_splice|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCCTTACCCGGATGCATTT	0.463000													17	71					5.35267e-07	6.23146e-07	0.007413	1	0
FOXP1	27086	broad.mit.edu	37	3	71019957	71019957	+	Splice_Site	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:71019957C>T	ENST00000318789.4	-	19	2178		c.e19-1		FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGAAGGGTTACTGTGTAAGAA	0.433000			T	PAX5	ALL								24	40					0	0	0.003330	0	0
MRPS31P5	100887750	broad.mit.edu	37	13	52742144	52742144	+	RNA	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:52742144G>A	ENST00000451298.1	-	0	3495				RP11-64P12.8_ENST00000606031.1_RNA																							CTCTTCATTTGACCCAAAATA	0.507000													8	11					0	0	0.008291	0	0
CHRM3	1131	broad.mit.edu	37	1	240071629	240071629	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240071629A>G	ENST00000255380.4	+	5	1657	c.878A>G	c.(877-879)tAc>tGc	p.Y293C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	293					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCAGCAGTTACGAACTTCAA	0.547000													7	63					0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139164289	139164289	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:139164289C>A	ENST00000395297.1	-	13	2599	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	810										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGCAAGATCCTGGGGAACC	0.537000										HNSCC(54;0.14)			15	99					0.000219431	0.000238546	0.002450	1	0
ARAP3	64411	broad.mit.edu	37	5	141033932	141033932	+	Missense_Mutation	SNP	A	A	G	rs142227089		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:141033932A>G	ENST00000239440.4	-	33	4285	c.4220T>C	c.(4219-4221)gTg>gCg	p.V1407A	ARAP3_ENST00000508305.1_Missense_Mutation_p.V1238A|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.V1056A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1407					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCCTCATACACTGGCTCCTC	0.582000													10	91					0	0	0.006214	0	0
XRCC5	7520	broad.mit.edu	37	2	216986930	216986930	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:216986930A>G	ENST00000392133.3	+	8	1098	c.637A>G	c.(637-639)Ata>Gta	p.I213V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I213V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	213					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AATGGTGATGATATCTTTAGA	0.383000								Non-homologous end-joining					14	49					0	0	0.001855	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80226236	80226236	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:80226236G>A	ENST00000450142.2	-	4	789	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R88W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R175W|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R175W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R175W	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	175						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGCATGATCCGTTCTTCTTCC	0.388000													21	114					0	0	0.008871	0	0
EYA3	2140	broad.mit.edu	37	1	28384547	28384547	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:28384547T>C	ENST00000373864.1	-	0	51				EYA3_ENST00000373871.3_De_novo_Start_InFrame|EYA3_ENST00000545175.1_De_novo_Start_OutOfFrame|EYA3_ENST00000540618.1_De_novo_Start_InFrame|EYA3_ENST00000436342.2_De_novo_Start_InFrame|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_De_novo_Start_InFrame			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)						anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGACCAATATTTCTTTAT	0.328000													45	31					0	0	0.003610	0	0
GNAZ	2781	broad.mit.edu	37	22	23438557	23438557	+	Silent	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:23438557T>C	ENST00000248996.4	+	2	1341	c.675T>C	c.(673-675)tgT>tgC	p.C225C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	225						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCTTCTGTGTGGAGCTCA	0.567000													44	205					0	0	0.003610	0	0
DLL4	54567	broad.mit.edu	37	15	41228746	41228746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41228746G>A	ENST00000249749.5	+	9	1837	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	521					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGAGTTCCCCGTGGGCTTGCC	0.652000													7	13					0	0	0.003080	0	0
GFRA1	2674	broad.mit.edu	37	10	117849257	117849257	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:117849257A>T	ENST00000439649.3	-	8	1544	c.1177T>A	c.(1177-1179)Tta>Ata	p.L393I	GFRA1_ENST00000544592.1_Missense_Mutation_p.L277I|GFRA1_ENST00000355422.6_Missense_Mutation_p.L398I|GFRA1_ENST00000369236.1_Missense_Mutation_p.L393I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	398					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTCACCTGTAAATTTGCACAC	0.547000													19	126					0	0	0.008871	0	0
INPP5A	3632	broad.mit.edu	37	10	134464009	134464009	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134464009G>T	ENST00000368594.3	+	4	583	c.306_splice	c.e4+1	p.T102_splice	INPP5A_ENST00000368593.3_Splice_Site_p.T102_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	102					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGCACTTCACGGTGAGTCCCT	0.542000													62	70					3.74213e-36	5.33125e-36	0.003610	1	0
CLDN3	1365	broad.mit.edu	37	7	73183873	73183873	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:73183873G>T	ENST00000395145.2	-	1	727	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	169					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GCAGCGCCGCGGCCGCCCAGC	0.701000													21	26					8.34094e-07	9.60285e-07	0.008871	1	0
EXT2	2132	broad.mit.edu	37	11	44228424	44228424	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:44228424A>G	ENST00000395673.3	+	10	1732	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	EXT2_ENST00000533608.1_Missense_Mutation_p.Y526C|EXT2_ENST00000358681.4_Missense_Mutation_p.Y536C|EXT2_ENST00000343631.3_Missense_Mutation_p.Y526C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	526					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCTTCCCTTATGATGAAATC	0.413000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				28	52					0	0	0.006320	0	0
FAT3	120114	broad.mit.edu	37	11	92573756	92573756	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92573756T>C	ENST00000298047.6	+	17	10414	c.10397T>C	c.(10396-10398)tTg>tCg	p.L3466S	FAT3_ENST00000409404.2_Missense_Mutation_p.L3466S|FAT3_ENST00000525166.1_Missense_Mutation_p.L3316S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3466	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGCATCTTGCAGCTGGTG	0.398000										TCGA Ovarian(4;0.039)			12	28					0	0	0.001855	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197234	26197234	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26197234T>A	ENST00000377831.5	-	2	698	c.245A>T	c.(244-246)gAt>gTt	p.D82V	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.D82V	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	82					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AAAACGCAGATCAGTCTTGAA	0.607000													18	88					0	0	0.004990	0	0
MYH13	8735	broad.mit.edu	37	17	10263357	10263357	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10263357T>C	ENST00000418404.3	-	6	728	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	MYH13_ENST00000252172.4_Missense_Mutation_p.T189A|MYH13_ENST00000570743.1_Missense_Mutation_p.T189A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	189	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACACGCTTGGTGTTCACAGTC	0.512000													15	57					0	0	0.007413	0	0
TIAM1	7074	broad.mit.edu	37	21	32638554	32638554	+	Silent	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32638554T>G	ENST00000286827.3	-	5	1206	c.735A>C	c.(733-735)gcA>gcC	p.A245A	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.A245A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	245					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCCCCCGTTTGCTGTCACTC	0.547000													25	80					0	0	0.003954	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563768	176563768	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:176563768G>T	ENST00000367662.3	+	3	2192	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.C343F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	343					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTCCCTCTGCACCGACCGC	0.577000													14	55					6.31663e-08	7.49349e-08	0.003163	1	0
NOP9	161424	broad.mit.edu	37	14	24769788	24769788	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:24769788G>C	ENST00000267425.3	+	2	515	c.422G>C	c.(421-423)tGc>tCc	p.C141S	NOP9_ENST00000396802.3_Missense_Mutation_p.C141S	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		TGTCACCGATGCGGGGTCCAT	0.567000													48	128					0	0	0.003610	0	0
GLUD2	2747	broad.mit.edu	37	X	120181945	120181945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:120181945G>A	ENST00000328078.1	+	1	484	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	136					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAAGGCTACCGGGCCCAGCAC	0.592000													26	10					0	0	0.004656	0	0
GLIPR1	11010	broad.mit.edu	37	12	75892486	75892486	+	Missense_Mutation	SNP	G	G	A	rs3736392	by1000genomes	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75892486G>A	ENST00000266659.3	+	5	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	KRR1_ENST00000229214.4_3'UTR	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	211			R -> Q (in dbSNP:rs3736392).		cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						AACCGACAGCGAGACCAAGTC	0.323000													11	34					0	0	0.001855	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550056	27550056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:27550056C>G	ENST00000359541.2	-	18	2934	c.2505G>C	c.(2503-2505)gaG>gaC	p.E835D	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E835D			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	835						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGAATAGCCTCCAGCTGCA	0.542000													6	42					0	0	0.001168	0	0
PRDM14	63978	broad.mit.edu	37	8	70970925	70970925	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:70970925G>C	ENST00000276594.2	-	6	1537	c.1336C>G	c.(1336-1338)Cgg>Ggg	p.R446G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCCGAAGCCGGTCCCGCTTC	0.502000													28	64					0	0	0.008361	0	0
PTPN1	5770	broad.mit.edu	37	20	49195149	49195149	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:49195149G>A	ENST00000371621.3	+	6	859	c.685G>A	c.(685-687)Gat>Aat	p.D229N	PTPN1_ENST00000541713.1_Missense_Mutation_p.D156N	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	229	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTGTCTGGCTGATACCTGCCT	0.587000													7	44					0	0	0.001984	0	0
MPEG1	219972	broad.mit.edu	37	11	58979531	58979531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:58979531G>A	ENST00000361050.3	-	1	893	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	270	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGTTGGTTCGGTTTGAGAGG	0.532000													4	16					0	0	0.000602	0	0
NXPH1	30010	broad.mit.edu	37	7	8791022	8791022	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:8791022G>T	ENST00000405863.1	+	3	1350	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.G30W	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	147	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCATGGCAATGGGACATTTAG	0.393000													15	50					2.32078e-09	2.81745e-09	0.003163	1	0
PM20D2	135293	broad.mit.edu	37	6	89862895	89862895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:89862895A>T	ENST00000275072.4	+	3	843	c.748A>T	c.(748-750)Aga>Tga	p.R250*		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	250							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACCAACCTGGAGAGTTCATGG	0.353000													18	29					0	0	0.007413	0	0
ATP10A	57194	broad.mit.edu	37	15	25940059	25940059	+	Missense_Mutation	SNP	G	G	A	rs147432497		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:25940059G>A	ENST00000356865.6	-	14	3106	c.2995C>T	c.(2995-2997)Cgc>Tgc	p.R999C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	999					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGACGGAGCGGCACTGCTTG	0.597000													12	42					0	0	0.000978	0	0
KCNB2	9312	broad.mit.edu	37	8	73849954	73849954	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:73849954T>A	ENST00000523207.1	+	3	2952	c.2364T>A	c.(2362-2364)ttT>ttA	p.F788L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	788					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCCAGGTTTCCCAAGCAGA	0.537000													21	78					0	0	0.008871	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962848	73962848	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:73962848G>T	ENST00000373468.1	-	3	2195	c.1544C>A	c.(1543-1545)tCc>tAc	p.S515Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S515Y			Q5QGS0	K2022_HUMAN	KIAA2022	515					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCCTCTTTGGAACCAACTGG	0.388000													5	7					3.59834e-05	3.96707e-05	0.001168	1	0
AGO2	27161	broad.mit.edu	37	8	141568597	141568597	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:141568597C>A	ENST00000220592.5	-	7	977	c.865G>T	c.(865-867)Gcc>Tcc	p.A289S	AGO2_ENST00000519980.1_Missense_Mutation_p.A289S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGGTGACTGGCGGGCCGCCGG	0.597000													65	84					9.65139e-37	1.3813e-36	0.003610	1	0
RFESD	317671	broad.mit.edu	37	5	94989858	94989858	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94989858A>T	ENST00000458310.1	+	4	1583	c.252A>T	c.(250-252)agA>agT	p.R84S	RFESD_ENST00000311364.4_Missense_Mutation_p.R31S|RFESD_ENST00000513950.2_Missense_Mutation_p.R31S|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.R84S	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	31	Rieske 1.|Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		AATCTGAAAGAATGACAGCTG	0.383000													8	34					0	0	0.004482	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007399	6007399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:6007399G>A	ENST00000399933.3	-	1	388	c.389C>T	c.(388-390)cCg>cTg	p.P130L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P130L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	130										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGGCTGCTGCGGGAAGGCGCG	0.706000													24	19					0	0	0.002299	0	0
GABRQ	55879	broad.mit.edu	37	X	151806746	151806746	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:151806746G>A	ENST00000370306.2	+	1	110	c.90G>A	c.(88-90)ccG>ccA	p.P30P		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	30						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCATCCCGAAATTCCACT	0.642000													14	18					0	0	0.004007	0	0
SMYD1	150572	broad.mit.edu	37	2	88407935	88407935	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:88407935G>A	ENST00000419482.2	+	9	1276	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SMYD1_ENST00000444564.2_Missense_Mutation_p.M384I|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGCCGTGATGCGGGCAGGGC	0.542000													29	36					0	0	0.002836	0	0
ZNF679	168417	broad.mit.edu	37	7	63721218	63721218	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:63721218C>T	ENST00000421025.1	+	4	442	c.173C>T	c.(172-174)gCt>gTt	p.A58V	ZNF679_ENST00000255746.4_Missense_Mutation_p.A58V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACAGGTATTGCTGTCTCTAAG	0.333000													14	49					0	0	0.002450	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818367	1818367	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:1818367G>T	ENST00000250894.4	+	30	3884	c.3727G>T	c.(3727-3729)Gtc>Ttc	p.V1243F	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1237F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1243					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAAGTTCTTTGTCTCGGTGCC	0.652000													27	60					1.5548e-18	2.08196e-18	0.005443	1	0
ZZEF1	23140	broad.mit.edu	37	17	3926063	3926063	+	Silent	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:3926063C>G	ENST00000381638.2	-	44	7276	c.7152G>C	c.(7150-7152)ctG>ctC	p.L2384L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2384							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTTTTTCACCAGCAACTTCA	0.517000													15	44					0	0	0.002450	0	0
TIAM1	7074	broad.mit.edu	37	21	32582412	32582412	+	Silent	SNP	C	C	G	rs28520154		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32582412C>G	ENST00000286827.3	-	12	2808	c.2337G>C	c.(2335-2337)acG>acC	p.T779T	TIAM1_ENST00000541036.1_Silent_p.T754T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	779	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCGGACGACCGTCAGGGCAG	0.547000													12	40					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179650467	179650467	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:179650467G>A	ENST00000589042.1	-	15	2597	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	TTN_ENST00000342175.6_Silent_p.I745I|TTN_ENST00000360870.5_Silent_p.I791I|TTN_ENST00000342992.6_Silent_p.I791I|TTN_ENST00000359218.5_Silent_p.I745I|TTN_ENST00000460472.2_Silent_p.I745I|TTN_ENST00000591111.1_Silent_p.I791I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	791							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)			TAGTTTTCTTGATCTGCATTG	0.413000													12	66					0	0	0.001368	0	0
SI	6476	broad.mit.edu	37	3	164735374	164735374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:164735374delC	ENST00000264382.3	-	31	3783	c.3721delG	c.(3721-3723)aafs	p.E1241fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1241	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATATAATTCCCGAACCTCT	0.338										HNSCC(35;0.089)			24	22	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112537599	112537601	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:112537599_112537601delGTT	ENST00000230538.7	-	3	662_664	c.265_267delAAC	c.(265-267)del	p.N89del	LAMA4_ENST00000431543.2_In_Frame_Del_p.N89del|LAMA4_ENST00000389463.4_In_Frame_Del_p.N89del|LAMA4_ENST00000522006.1_In_Frame_Del_p.N89del|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_In_Frame_Del_p.N89del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	89	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.N89K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAAACACTCGTTGGAATTGCCA	0.453													24	56	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6	---	---	---	---					
INSC	387755	broad.mit.edu	37	11	15197593	15197601	+	In_Frame_Del	DEL	CAGTGCTGT	CAGTGCTGT	-	rs61745109		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:15197593_15197601delCAGTGCTGT	ENST00000379554.3	+	3	550_558	c.504_512delCAGTGCTGT	c.(502-513)tac>ta	p.YSAV168del	INSC_ENST00000530161.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000525218.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000528567.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000379556.3_In_Frame_Del_p.YSAV121del|INSC_ENST00000424273.1_In_Frame_Del_p.YSAV121del	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	168					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCAGCGAGTACAGTGCTGTCAGCAGGAAC	0.612													7	12	---	---	---	---					
ZNF705E	100131539	broad.mit.edu	37	11	71532575	71532576	+	RNA	INS	-	-	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:71532575_71532576insT	ENST00000525199.1	-	0	18_19																											CTTGCAGACACTTTAGGCACTA	0.426													24	56	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576858	7576858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7576858delG	ENST00000420246.2	-	9	1120	c.988delC	c.(988-990)ttfs	p.L330fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L330fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	330	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (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.0?(8)|p.L330fs*15(1)|p.?(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)		AGTACCTGAAGGGTGAAATAT	0.453		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)			27	70	---	---	---	---					
CARM1	10498	broad.mit.edu	37	19	11018818	11018818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:11018818delC	ENST00000327064.4	+	3	640	c.450delC	c.(448-450)ttfs	p.F150fs	CARM1_ENST00000344150.4_Frame_Shift_Del_p.F150fs	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	150					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGCAGTACTTCCAGGTGGGTT	0.652													32	27	---	---	---	---					
C21orf91	54149	broad.mit.edu	37	21	19165780	19165781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:19165780_19165781insA	ENST00000284881.4	-	5	935_936	c.845_846insT	c.(844-846)ccafs	p.P282fs	C21orf91_ENST00000400559.3_Frame_Shift_Ins_p.P281fs|C21orf91_ENST00000400558.3_3'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	282										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GCCCTACTTGCAGACATGGTAA	0.475													8	22	---	---	---	---					
FAM9A	171482	broad.mit.edu	37	X	8764319	8764320	+	Frame_Shift_Ins	INS	-	-	T	rs1985393		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:8764319_8764320insT	ENST00000543214.1	-	6	612_613	c.477_478insA	c.(475-480)aaaactfs	p.T160fs	FAM9A_ENST00000381003.3_Frame_Shift_Ins_p.T160fs	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTTTTAGTTGTTTTTTTTTCA	0.292													5	2	---	---	---	---					
APOO	79135	broad.mit.edu	37	X	23897090	23897091	+	Frame_Shift_Ins	INS	-	-	GCTGGCTC			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:23897090_23897091insGCTGGCTC	ENST00000379226.4	-	3	409_410	c.178_179insGAGCCAGC	c.(178-180)tgafs	p.*60fs	APOO_ENST00000379220.3_Frame_Shift_Ins_p.*60fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	60					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GCTTTCTTCAAGCTGGCTCCTT	0.441													14	38	---	---	---	---					
