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
KIAA1751	85452	broad.mit.edu	37	1	1918455	1918455	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:1918455G>A	uc001aim.1	-	4	472	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	106										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGCCTCTGCCGACAGGCGCGC	0.632												
EIF4G3	8672	broad.mit.edu	37	1	21268743	21268743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:21268743G>C	uc001bec.3	-	8	992	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.3_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.3_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.2_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.3_Missense_Mutation_p.Q257E	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	246					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCTTCTTGTTCTTTCTTC	0.448												
RPL5	6125	broad.mit.edu	37	1	93298955	93298955	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:93298955delA	uc001doz.3	+	1	91	c.13delA	c.(13-15)aaafs	p.K5fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299												
OVGP1	5016	broad.mit.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:111957411C>T	uc001eba.3	-	10	1768	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	OVGP1_uc001eaz.3_Missense_Mutation_p.R533H|OVGP1_uc010owb.2_Missense_Mutation_p.R219H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527												
SH2D1B	117157	broad.mit.edu	37	1	162368789	162368789	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:162368789T>C	uc001gbz.1	-	2	409	c.287A>G	c.(286-288)cAc>cGc	p.H96R	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	96	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAAAAGGTGAACCACCAT	0.423												
RYR2	6262	broad.mit.edu	37	1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:237947200C>T	uc001hyl.1	+	89	12308	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_uc010pya.2_Missense_Mutation_p.T478M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4063					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4061M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCAGAAACGGAATTTCTT	0.483												
OR2T3	343173	broad.mit.edu	37	1	248637275	248637275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:248637275C>A	uc001iel.1	+	0	624	c.624C>A	c.(622-624)tgC>tgA	p.C208*		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGTGCTGCATCCTCATGC	0.532												
MRC1	4360	broad.mit.edu	37	10	17949554	17949554	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:17949554G>A	uc001ipk.3	+	27	4021	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	1306	C-type lectin 8.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GACCAGGGACGTGGCTGTGGA	0.383												
CTNNA3	29119	broad.mit.edu	37	10	69407205	69407205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:69407205C>T	uc009xpn.1	-	1	190	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.4_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	23					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCTTCTCCACGGTGAATGTT	0.393												
DUX4L3	653544	broad.mit.edu	37	10	135491113	135491113	+	Missense_Mutation	SNP	G	G	A	rs150899513	by1000genomes	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:135491113G>A	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.A242T|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGTCGCCTTCGCCCACACCGG	0.776												
TTC17	55761	broad.mit.edu	37	11	43411222	43411222	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:43411222A>C	uc001mxi.3	+	2	340	c.270A>C	c.(268-270)aaA>aaC	p.K90N	TTC17_uc001mxh.3_Missense_Mutation_p.K90N|TTC17_uc010rfj.2_Missense_Mutation_p.K33N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	90							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCTCAAAAAATTCACATAG	0.393												
OR4D9	390199	broad.mit.edu	37	11	59282555	59282555	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:59282555C>T	uc010rkv.2	+	0	170	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACCTTCATACGCCCATGTAC	0.433												
GLB1L3	112937	broad.mit.edu	37	11	134182345	134182345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:134182345G>A	uc009zdf.3	+	13	1750	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	464					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATCTGCTCCGGAGGCCGCCT	0.607												
KLRD1	3824	broad.mit.edu	37	12	10466085	10466085	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr12:10466085A>T	uc009zhi.3	+	4					KLRD1_uc001qxw.4_Missense_Mutation_p.E131V|KLRD1_uc001qxx.4_Missense_Mutation_p.E131V|KLRD1_uc001qxy.4_Missense_Mutation_p.E100V|KLRD1_uc009zhh.3_Missense_Mutation_p.E110V|KLRD1_uc001qxz.4_Missense_Mutation_p.E132V			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTTGTGGGAGAATGGCTCT	0.418												
TEP1	7011	broad.mit.edu	37	14	20848171	20848171	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:20848171A>G	uc001vxe.3	-	34	5085	c.5045T>C	c.(5044-5046)gTg>gCg	p.V1682A	TEP1_uc010ahk.3_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1682					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAAGGCCACAGCAGTAGG	0.507												
CHD8	57680	broad.mit.edu	37	14	21860822	21860832	+	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:21860822_21860832delAGGAGTCAATG	uc001war.2	-	32	6670_6680	c.6605_6615delCATTGACTCCT	c.(6604-6615)tcattgactcctfs	p.S2202fs	CHD8_uc001was.2_Frame_Shift_Del_p.S1923fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2202					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATATTCTCCAGGAGTCAATGAGGGACTGTC	0.555												
TMEM229B	161145	broad.mit.edu	37	14	67940502	67940502	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:67940502C>T	uc001xjk.3	-	2	549	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V47M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	47						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGCCCACACGCTCGTGACC	0.617												
OR4N3P	390539	broad.mit.edu	37	15	22414262	22414262	+	Silent	SNP	C	C	T	rs1429510	by1000genomes	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr15:22414262C>T	uc001yuf.3	+	0	801	c.561C>T	c.(559-561)gcC>gcT	p.A187A	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTTTCCCAGCCGACAAGGTGG	0.453												
GOLGA8DP	100132979	broad.mit.edu	37	15	22709197	22709197	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr15:22709197A>G	uc010axw.2	-	10	1200	c.302T>C	c.(301-303)gTg>gCg	p.V101A	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.V101A|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		CTGCAGCTCCACCTCAGAGGG	0.532												
PTX4	390667	broad.mit.edu	37	16	1537571	1537571	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:1537571C>T	uc010uvf.2	-	1	527	c.527G>A	c.(526-528)gGc>gAc	p.G176D		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	181						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGCAGTGCCAGGGTGGGC	0.726												
PRKCB	5579	broad.mit.edu	37	16	24104126	24104126	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:24104126A>T	uc002dmd.3	+	5	741	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	PRKCB_uc002dme.3_Missense_Mutation_p.N182Y	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	182	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGATGCTAAAAACCTTGTACC	0.418												
SPNS1	83985	broad.mit.edu	37	16	28992797	28992797	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:28992797C>A	uc010vdi.1	+	6	810	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	224					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCAGGTGACACCGGGTCTAGG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SETD1A	9739	broad.mit.edu	37	16	30970183	30970183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:30970183G>A	uc002ead.1	+	1	817	c.131G>A	c.(130-132)gGa>gAa	p.G44E	SETD1A_uc002eae.1_Missense_Mutation_p.G44E	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTATGATGGAGTCCACTTC	0.597												
PLD2	5338	broad.mit.edu	37	17	4714202	4714202	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:4714202G>A	uc002fzc.3	+	9	1092	c.966G>A	c.(964-966)cgG>cgA	p.R322R	PLD2_uc010vsj.2_Silent_p.R179R|PLD2_uc002fzd.3_Silent_p.R322R	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	322					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCTGCACCGGCATGACAGCT	0.617												
ZPBP2	124626	broad.mit.edu	37	17	38027064	38027064	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:38027064C>T	uc002hte.3	+	2	389	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZPBP2_uc002htf.3_Missense_Mutation_p.T57M	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	79					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGAAAAGACGTTAACAGGT	0.284												
AKAP1	8165	broad.mit.edu	37	17	55189944	55189944	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:55189944T>A	uc010wnl.2	+	5	2350	c.2068T>A	c.(2068-2070)Tca>Aca	p.S690T	AKAP1_uc002iux.3_Missense_Mutation_p.S690T|AKAP1_uc021uak.1_Missense_Mutation_p.S690T|AKAP1_uc010dcm.3_Missense_Mutation_p.S690T|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	690					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCATTGCCTTCACTGGCACT	0.502												
MPO	4353	broad.mit.edu	37	17	56352985	56352985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:56352985G>C	uc002ivu.1	-	7	1460	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	428					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CTTGAGCTCTGTGGCCAGCCG	0.617												
LRP3	4037	broad.mit.edu	37	19	33696170	33696170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:33696170C>G	uc010edh.3	+	4	587	c.494C>G	c.(493-495)tCc>tGc	p.S165C	LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.4_Missense_Mutation_p.S39C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	165	LDL-receptor class A 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGGCATCCTGCCAGGCA	0.662												
LOC100507433	163255	broad.mit.edu	37	19	38103381	38103381	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:38103381G>A	uc002ogq.3	+	4	1567	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	LOC100507433_uc002ogu.3_Silent_p.R400R|LOC100507433_uc010efq.3_Silent_p.R368R	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		AGCTTAATCGGCATAAAACAA	0.373												
NCR1	9437	broad.mit.edu	37	19	55420766	55420766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:55420766C>T	uc002qib.2	+	3	556	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	173	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAGGTCCAGGCGGAGTTCCCC	0.572												
APOB	338	broad.mit.edu	37	2	21228712	21228712	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:21228712G>A	uc002red.3	-	25	11156	c.11028C>T	c.(11026-11028)atC>atT	p.I3676I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3676					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACTGGTAGGATGATATTTT	0.453												
NLRC4	58484	broad.mit.edu	37	2	32460481	32460481	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:32460481A>C	uc002roi.3	-	7	3032	c.2771T>G	c.(2770-2772)aTt>aGt	p.I924S	NLRC4_uc021vfq.1_Missense_Mutation_p.I924S|NLRC4_uc002roj.2_Missense_Mutation_p.I924S|NLRC4_uc010ezt.2_Missense_Mutation_p.I259S	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	924					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428												
CEP68	23177	broad.mit.edu	37	2	65296848	65296848	+	Silent	SNP	C	C	A	rs112673076		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:65296848C>A	uc002sdl.4	+	1	484	c.270C>A	c.(268-270)ccC>ccA	p.P90P	CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.4_Silent_p.P90P|CEP68_uc010yqc.2_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	90					centrosome organization	centrosome		p.P90P(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGAGAGCCCGTAGCTGAGA	0.627												
FAM123C	205147	broad.mit.edu	37	2	131520873	131520873	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:131520873G>A	uc021voy.1	+	0	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	FAM123C_uc002trw.2_Missense_Mutation_p.A410T|FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	410										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CACTCCTGCCGCCACCTTCCC	0.617												
SCN3A	6328	broad.mit.edu	37	2	165997260	165997260	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:165997260T>C	uc002ucx.3	-	12	2412	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTCCCATTTGCTGGAAGCC	0.542												
TTN	7273	broad.mit.edu	37	2	179647077	179647077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:179647077G>A	uc021vsy.1	-	19	3467	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	TTN_uc021vsz.1_Missense_Mutation_p.A1035V|TTN_uc021vta.1_Missense_Mutation_p.A1035V|TTN_uc021vtb.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1081			A -> T (in dbSNP:rs55914517).				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)			AAAGTAAGGCGCGGCAGGTTC	0.502												
MARS2	92935	broad.mit.edu	37	2	198570303	198570303	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:198570303G>A	uc002uuq.3	+	0	276	c.174G>A	c.(172-174)ccG>ccA	p.P58P	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	58					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ACGCGGCGCCGCACATCGGGC	0.642												
HDLBP	3069	broad.mit.edu	37	2	242202197	242202197	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:242202197T>C	uc002waz.3	-	4	552	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	HDLBP_uc002wba.3_Missense_Mutation_p.I127V|HDLBP_uc021vzg.1_Missense_Mutation_p.I163V|HDLBP_uc010fzn.1_Intron|DKFZp686L08115_uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	127					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GACACCATGATGGAGAGGCCT	0.512												
HM13	81502	broad.mit.edu	37	20	30136902	30136902	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr20:30136902G>T	uc002wwc.3	+	4	639	c.525G>T	c.(523-525)tgG>tgT	p.W175C	HM13_uc002wwd.3_Missense_Mutation_p.W175C|HM13_uc002wwe.3_Missense_Mutation_p.W175C|HM13_uc002wwf.3_Missense_Mutation_p.W51C	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	175					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	p.V174I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGGCGTCTGGTACCTGCTGA	0.577												
HUNK	30811	broad.mit.edu	37	21	33296873	33296873	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr21:33296873C>T	uc002yph.3	+	1	715	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	119	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGATGATCCGCCACCCCAA	0.488												
LZTR1	8216	broad.mit.edu	37	22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:21344765G>A	uc002zto.3	+	7	845	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_uc002ztn.3_Missense_Mutation_p.G207R|LZTR1_uc011ahy.2_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	248					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G248R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562												
DEPDC5	9681	broad.mit.edu	37	22	32198714	32198715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:32198714_32198715insC	uc011alu.2	+	14	1173_1174	c.971_972insC	c.(970-972)cgcfs	p.R324fs	DEPDC5_uc011als.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003als.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.2_Frame_Shift_Ins_p.R296fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	324					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACATCAACCGCAACTTTGACC	0.460												
SBF1	6305	broad.mit.edu	37	22	50895482	50895483	+	In_Frame_Ins	INS	-	-	GAGGCC			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:50895482_50895483insGAGGCC	uc003blh.3	-	28	4079_4080	c.3884_3885insGGCCTC	c.(3883-3885)tcc>tcGGCCTCc	p.1295_1295S>SAS	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Intron	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1275	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCGTCTGGAGGCCGAGGC	0.678												
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:45800488G>A	uc011bai.2	-	10	1885	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_uc003cow.3_Silent_p.D237D|SLC6A20_uc011baj.2_Silent_p.D550D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	587					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577												
NISCH	11188	broad.mit.edu	37	3	52525480	52525480	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:52525480G>A	uc003ded.4	+	19	3989	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P	NISCH_uc003dee.4_Silent_p.P774P|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1285					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGCCCTCGCCGGAGCCTGTTG	0.602												
IL17RD	54756	broad.mit.edu	37	3	57132318	57132318	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:57132318C>T	uc003dil.3	-	11	1502	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	IL17RD_uc003dik.3_Silent_p.A447A|IL17RD_uc010hna.3_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	471	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.A471A(1)|p.A327A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACTTGCTGAGCGCCGCGGACG	0.572												
CD86	942	broad.mit.edu	37	3	121828238	121828238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:121828238G>A	uc003eet.3	+	4	958	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CD86_uc011bjo.2_Missense_Mutation_p.R195H|CD86_uc011bjp.2_Missense_Mutation_p.R165H|CD86_uc003eeu.3_Missense_Mutation_p.R271H|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	277					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAGCGGCCTCGCAACTCTTAT	0.468												
PIK3CA	5290	broad.mit.edu	37	3	178916728	178916728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:178916728G>A	uc003fjk.3	+	1	272	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	39	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(8)|p.E39K(5)|p.R38C(2)|p.R38L(1)|p.R38G(1)|p.E39G(1)|p.R38S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGCCTCCGTGAGGCTACATT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:72399971G>A	uc010iic.3	+	17	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_uc003hfy.3_Missense_Mutation_p.V770I|SLC4A4_uc010iib.3_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.3_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.4_Missense_Mutation_p.V726I|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	770	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.V770I(2)|p.V726I(2)		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)			AGGTTGGTTCGTTCCACCGTT	0.423												
PPEF2	5470	broad.mit.edu	37	4	76797822	76797822	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:76797822A>G	uc003hix.3	-	10	1295	c.938T>C	c.(937-939)gTt>gCt	p.V313A	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	313	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGGTGGAAACTATCTAAAC	0.502												
MAPK10	5602	broad.mit.edu	37	4	87028499	87028499	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:87028499C>T	uc003hps.3	-	4	929	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MAPK10_uc010ikg.3_Silent_p.A43A|MAPK10_uc003hpr.3_Silent_p.A43A|MAPK10_uc003hpt.3_Silent_p.A81A|MAPK10_uc003hpu.3_Silent_p.A81A|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	81	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443												
BBS12	166379	broad.mit.edu	37	4	123665161	123665161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:123665161C>T	uc021xrm.1	+	2	2495	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	BBS12_uc003ieu.3_Missense_Mutation_p.T705M|BBS12_uc021xrn.1_Missense_Mutation_p.T705M	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	705					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGGAATTAACGGGCTTTCTA	0.348									Bardet-Biedl syndrome			
PLK4	10733	broad.mit.edu	37	4	128807278	128807278	+	Silent	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:128807278A>T	uc003ifo.3	+	4	1027	c.753A>T	c.(751-753)gcA>gcT	p.A251A	PLK4_uc011cgs.2_Silent_p.A219A|PLK4_uc011cgt.2_Silent_p.A210A	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	251	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATCCAGCAGATCGTTTAA	0.353												
NEK1	4750	broad.mit.edu	37	4	170398275	170398275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:170398275delT	uc003isd.2	-	26	3012	c.2434_splice	c.e26+1	p.R812_splice	NEK1_uc003ise.2_Splice_Site_p.R768_splice|NEK1_uc003isb.2_Splice_Site_p.R784_splice|NEK1_uc003isc.2_Splice_Site_p.R740_splice|NEK1_uc003isf.2_Splice_Site_p.R715_splice	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	784					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATACATACTTTCAGTTGTA	0.343												
ADAMTS12	81792	broad.mit.edu	37	5	33549384	33549384	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:33549384G>A	uc003jia.1	-	20	4393	c.4230C>T	c.(4228-4230)ggC>ggT	p.G1410G	ADAMTS12_uc010iuq.1_Silent_p.G1325G	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1410	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1409A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGGAATGCCGGCCAGGA	0.612										HNSCC(64;0.19)		
IL3	3562	broad.mit.edu	37	5	131396547	131396547	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:131396547C>T	uc003kwe.1	+	0	201	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	50					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAAGCAGCCACCTTTGCCTTT	0.522												
FAT2	2196	broad.mit.edu	37	5	150947262	150947262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:150947262G>A	uc003lue.4	-	0	1244	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	411	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCCAGTTCGAGCATTAAGT	0.532												
BRPF3	27154	broad.mit.edu	37	6	36185728	36185728	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:36185728C>T	uc003olv.4	+	8	3248	c.3024C>T	c.(3022-3024)agC>agT	p.S1008S	BRPF3_uc010jwb.3_Silent_p.S738S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1008					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACCGAAAGCGGGTCTGACT	0.512												
LGSN	51557	broad.mit.edu	37	6	63990385	63990385	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:63990385G>A	uc003peh.3	-	3	1105	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	357					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.C357S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCGCCATCAGGCAGCTGAGCG	0.498												
PPIL6	285755	broad.mit.edu	37	6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:109752404C>T	uc010kdp.3	-	2	957	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_uc003ptg.4_Missense_Mutation_p.A126T|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	126					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393												
UNC93A	54346	broad.mit.edu	37	6	167704889	167704889	+	Translation_Start_Site	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:167704889C>A	uc003qvq.3	+	0					UNC93A_uc003qvr.3_5'UTR	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCTTGGTACTGATTGTTTT	0.398												
DAGLB	221955	broad.mit.edu	37	7	6476110	6476110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:6476110C>A	uc003sqa.3	-	2	472	c.302G>T	c.(301-303)cGc>cTc	p.R101L	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Missense_Mutation_p.R101L|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	101					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGCCAGGCGGATGTAAAG	0.522												
FAM188B	84182	broad.mit.edu	37	7	30915152	30915152	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:30915152G>A	uc003tbt.3	+	14	1929	c.1852G>A	c.(1852-1854)Gtt>Att	p.V618I	FAM188B_uc010kwe.3_Missense_Mutation_p.V589I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.V138I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	618										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGTCCAACGTTTTCAACGA	0.463												
CDC14C	168448	broad.mit.edu	37	7	48964316	48964316	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:48964316C>T	uc010kyv.1	+	0	160	c.48C>T	c.(46-48)gaC>gaT	p.D16D						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ACCCCCAGGACGACGTGTACG	0.577												
EGFR	1956	broad.mit.edu	37	7	55259469	55259469	+	Missense_Mutation	SNP	G	G	C	rs146795390		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:55259469G>C	uc003tqk.3	+	20	2773	c.2527G>C	c.(2527-2529)Gta>Cta	p.V843L	EGFR_uc022adm.1_Missense_Mutation_p.V843L|EGFR_uc010kzg.2_Missense_Mutation_p.V798L|EGFR_uc022adn.1_Missense_Mutation_p.V798L|EGFR_uc011kco.2_Missense_Mutation_p.V790L|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Missense_Mutation_p.V78L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	843	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V843I(11)|p.V843L(2)|p.N842D(2)|p.N842H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCCAGGAACGTACTGGTGAA	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:56085002C>T	uc003trj.3	-	3	748	c.433G>A	c.(433-435)Gta>Ata	p.V145I	PSPH_uc003trh.3_Missense_Mutation_p.V116I|PSPH_uc003tri.3_Missense_Mutation_p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393												
SERPINE1	5054	broad.mit.edu	37	7	100771685	100771685	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:100771685C>G	uc003uxt.3	+	1	159	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SERPINE1_uc011kkj.2_Missense_Mutation_p.S4C	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	4					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ATGCAGATGTCTCCAGCCCTC	0.622												
OR2A1	346528	broad.mit.edu	37	7	144015519	144015519	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:144015519T>G	uc011kud.2	+	0	302	c.302T>G	c.(301-303)tTt>tGt	p.F101C	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ACGCAGACCTTTCTCTGTTTG	0.572												
SSPO	23145	broad.mit.edu	37	7	149493793	149493793	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:149493793G>A	uc010lpk.3	+	44	6780	c.6780G>A	c.(6778-6780)tcG>tcA	p.S2260S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2263	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGATGAGGAGG	0.652												
UBE3C	9690	broad.mit.edu	37	7	157046788	157046788	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:157046788T>C	uc010lqs.3	+	19	3147	c.2835T>C	c.(2833-2835)aaT>aaC	p.N945N	UBE3C_uc003wni.4_Silent_p.N308N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	945	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCTTGCCAATGTCGTCAGCC	0.562												
X97876	442421	broad.mit.edu	37	9	66499790	66499790	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:66499790G>T	uc004aee.1	+	0	600	c.600G>T	c.(598-600)aaG>aaT	p.K200N	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGCTGTGCAAGTCGCGCAAGG	0.597												
GCNT1	2650	broad.mit.edu	37	9	79118132	79118132	+	Nonsense_Mutation	SNP	G	G	T	rs656106		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:79118132G>T	uc022bif.1	+	0	835	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	GCNT1_uc010mpf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpg.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.4_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.4_Nonsense_Mutation_p.E279*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	279	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCCTCCACTCGAAACACCTCT	0.463