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
FUCA1	2517	broad.mit.edu	37	1	24186383	24186383	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:24186383C>G	uc001bie.3	-	3	756	c.673G>C	c.(673-675)Gat>Cat	p.D225H	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	225					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGATCAGATCAGGTTTATAG	0.403												
PODN	127435	broad.mit.edu	37	1	53544261	53544261	+	Missense_Mutation	SNP	G	G	A	rs138913141		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:53544261G>A	uc001cuv.3	+	7	1391	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	PODN_uc010onr.2_Missense_Mutation_p.R389Q|PODN_uc010ons.2_Missense_Mutation_p.R266Q|PODN_uc001cuw.3_Missense_Mutation_p.R389Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	360					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTCAAGCGGTTGCACACG	0.647												
INADL	10207	broad.mit.edu	37	1	62299351	62299351	+	Missense_Mutation	SNP	C	C	G	rs112258254	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:62299351C>G	uc001dab.3	+	16	2120	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S	INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	669					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGTCAATACTGAAGAAGAT	0.363												
TTC24	164118	broad.mit.edu	37	1	156554756	156554756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:156554756G>A	uc021pbf.1	+	6	1375	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	447							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGCAGGTGTCCAGCACAG	0.642												
ETV3L	440695	broad.mit.edu	37	1	157068529	157068529	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:157068529G>T	uc001fqq.2	-	2	740	c.455C>A	c.(454-456)cCa>cAa	p.P152Q		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACCAGCGCTGGCCGACACAG	0.652												
PLEKHA6	22874	broad.mit.edu	37	1	204214763	204214763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:204214763G>A	uc001hau.3	-	13	2329	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	671										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGTGTCCGTGCCCCGGGA	0.602												
OR2T12	127064	broad.mit.edu	37	1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:248458330C>T	uc010pzj.2	-	0	551	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552												
ARHGAP21	57584	broad.mit.edu	37	10	24873489	24873489	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:24873489A>C	uc001isb.2	-	25	6216	c.5729T>G	c.(5728-5730)cTt>cGt	p.L1910R	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1909					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATGGAAAGAAGGGGCCTGTT	0.483												
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318												
BTAF1	9044	broad.mit.edu	37	10	93786503	93786503	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:93786503G>A	uc001khr.3	+	35	5328	c.5230G>A	c.(5230-5232)Ggg>Agg	p.G1744R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1744	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.G1744G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATCGCATTGGGCAGGTAAA	0.463												
KNDC1	85442	broad.mit.edu	37	10	135020727	135020727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:135020727C>A	uc001llz.1	+	19	3667	c.3666C>A	c.(3664-3666)gaC>gaA	p.D1222E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1222					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACACGCTGGACTTCAGCCCCC	0.687												
LRP4	4038	broad.mit.edu	37	11	46894746	46894746	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:46894746G>A	uc001ndn.4	-	29	4731	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1496					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGCCCGTTCGATCTTGGCAA	0.552												
OR4A15	81328	broad.mit.edu	37	11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:55135883C>T	uc010rif.2	+	0	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443												
TECTA	7007	broad.mit.edu	37	11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	rs139132568		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:121000704C>T	uc010rzo.2	+	8	2725	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	909	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562												
DDX12P	440081	broad.mit.edu	37	12	9574042	9574042	+	Missense_Mutation	SNP	C	C	A	rs7298124	by1000genomes	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:9574042C>A	uc021qut.1	-	10		c.1356G>T			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.S665I(1)									GGAGACCCCGCTGCAGATGAC	0.592												
PIK3C2G	5288	broad.mit.edu	37	12	18699324	18699324	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:18699324G>A	uc001rdt.3	+	24	3541	c.3425G>A	c.(3424-3426)cGt>cAt	p.R1142H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R961H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1142	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATAATCTTCGTCCACAAGAC	0.408												
KRT79	338785	broad.mit.edu	37	12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:53218087G>T	uc001sbb.3	-	4	948	c.915C>A	c.(913-915)aaC>aaA	p.N305K	KRT79_uc001sba.3_Missense_Mutation_p.N76K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	305	Linker 12.|Rod.					keratin filament	structural molecule activity	p.N305K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597												
SLC16A7	9194	broad.mit.edu	37	12	60169207	60169207	+	Silent	SNP	T	T	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:60169207T>G	uc001sqs.3	+	4	1430	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	SLC16A7_uc001sqt.3_Silent_p.L377L|SLC16A7_uc001squ.3_Silent_p.L377L|SLC16A7_uc009zqi.3_Silent_p.L278L|SLC16A7_uc010ssi.2_Silent_p.L278L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	377						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCGTCGGACTTGTCACAATTG	0.438												
KCTD10	83892	broad.mit.edu	37	12	109889455	109889455	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:109889455C>T	uc001toj.1	-	6	2627	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toi.1_Missense_Mutation_p.R296H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	296					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCCGCACGCGCTCGATCCG	0.716												
OR4K5	79317	broad.mit.edu	37	14	20389343	20389343	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr14:20389343A>T	uc010tkw.2	+	0	578	c.578A>T	c.(577-579)tAc>tTc	p.Y193F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGACTCTTACATCATTGAA	0.393												
OR4N3P	390539	broad.mit.edu	37	15	22414262	22414262	+	Silent	SNP	C	C	T	rs1429510	by1000genomes	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	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												
GABRB3	2562	broad.mit.edu	37	15	26825472	26825472	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:26825472C>T	uc001zbb.3	-	6	947	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	GABRB3_uc021sgg.1_Missense_Mutation_p.A155T|GABRB3_uc021sgh.1_Missense_Mutation_p.A141T|GABRB3_uc001zaz.3_Missense_Mutation_p.A226T|GABRB3_uc001zba.3_Missense_Mutation_p.A226T	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	226					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T282N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCACCTGTGGCGAAGACAACA	0.572												
GOLGA6C	653641	broad.mit.edu	37	15	75557692	75557692	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:75557692G>A	uc002azs.2	+	8	727	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	DQ588973_uc002azt.2_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	229										ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547												
HAGH	3029	broad.mit.edu	37	16	1867224	1867224	+	Missense_Mutation	SNP	G	G	A	rs150713216		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:1867224G>A	uc002cna.3	-	5	997	c.590C>T	c.(589-591)gCg>gTg	p.A197V	HAGH_uc002cmz.3_Missense_Mutation_p.A149V|HAGH_uc010uvp.2_Missense_Mutation_p.R161W	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CATCTCATCCGCAGTCCCTTC	0.637												
PDILT	204474	broad.mit.edu	37	16	20376785	20376785	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:20376785G>A	uc002dhc.1	-	8	1417	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	398	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448												
BC068290	0	broad.mit.edu	37	16	33784791	33784791	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:33784791C>T	uc010vgb.2	+	1	200	c.180C>T	c.(178-180)ggC>ggT	p.G60G						SubName: Full=Uncharacterized protein;																		ACCTCCTGGGCTGCCTCCTCA	0.632												
IL17C	27189	broad.mit.edu	37	16	88705562	88705562	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:88705562G>A	uc002fla.3	+	1	229	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	60					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGTGGGGGCAGGCTTTGCCTG	0.697												
RAPGEFL1	51195	broad.mit.edu	37	17	38340589	38340589	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:38340589C>T	uc010cwu.1	+	2	595	c.105C>T	c.(103-105)ggC>ggT	p.G35G		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	241	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGGGGCCGGCCACATCATCA	0.587												
DHX40	79665	broad.mit.edu	37	17	57665340	57665340	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:57665340C>T	uc002ixn.2	+	11	1655	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	DHX40_uc010woe.2_Missense_Mutation_p.A426V|DHX40_uc010wof.2_Missense_Mutation_p.A18V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATAAAAGCTGCTTCCCTGGAT	0.398												
SCN4A	6329	broad.mit.edu	37	17	62019282	62019282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:62019282G>A	uc002jds.1	-	23	4437	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1454					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGCCCAATCCGCGCCAGGCGG	0.642												
LAMA1	284217	broad.mit.edu	37	18	6982557	6982557	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr18:6982557C>T	uc002knm.3	-	40	5923	c.5829G>A	c.(5827-5829)gcG>gcA	p.A1943A	LAMA1_uc010wzj.2_Silent_p.A1419A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1943	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCACGGCCGCTTTCCCGT	0.547												
ATP8B3	148229	broad.mit.edu	37	19	1805392	1805392	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:1805392C>A	uc002ltw.3	-	9	1119	c.885G>T	c.(883-885)aaG>aaT	p.K295N	ATP8B3_uc002ltv.3_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	295					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCATCTTCTTTATAGTGG	0.478												
DOT1L	84444	broad.mit.edu	37	19	2227030	2227030	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:2227030G>A	uc002lvc.1	+	12	3159	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	DOT1L_uc002lvb.4_Missense_Mutation_p.A1504T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1504						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCGGCCGCCGCAGGCCT	0.697												
OR7G3	390883	broad.mit.edu	37	19	9237058	9237058	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:9237058G>A	uc010xkl.2	-	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGACATCAGAACAGGCGAG	0.463												
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:10262139delT	uc002mng.3	-	22	2332	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_uc010xlc.2_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.3_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.2_Frame_Shift_Del_p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507												
GPR77	27202	broad.mit.edu	37	19	47844107	47844107	+	Silent	SNP	G	G	A	rs115216760	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:47844107G>A	uc002pgk.1	+	1	122	c.51G>A	c.(49-51)tcG>tcA	p.S17S	GPR77_uc010ela.1_Silent_p.S17S|GPR77_uc021uwn.1_Silent_p.S17S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	17					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCGACCTCTCGGACCGCCCTG	0.627												
PTPN18	26469	broad.mit.edu	37	2	131128796	131128796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:131128796G>A	uc002trc.3	+	11	1050	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PTPN18_uc002trb.3_Missense_Mutation_p.A210T|PTPN18_uc002tre.3_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	317						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACGACGATGCCCTCTTCCT	0.622												
LRP1B	53353	broad.mit.edu	37	2	141812781	141812781	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:141812781A>T	uc002tvj.1	-	9	2428	c.1456T>A	c.(1456-1458)Tgt>Agt	p.C486S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	486					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G485fs*56(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTGTGAACAGCCCCCTGGC	0.438										TSP Lung(27;0.18)		
TTN	7273	broad.mit.edu	37	2	179606204	179606204	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:179606204G>T	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3748N|TTN_uc021vta.1_Missense_Mutation_p.T3681N|TTN_uc021vtb.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TTCTGTTTCAGTGTCTTTGTG	0.428												
FN1	2335	broad.mit.edu	37	2	216232682	216232682	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:216232682C>G	uc002vfa.3	-	41	7188	c.6922G>C	c.(6922-6924)Gtt>Ctt	p.V2308L	FN1_uc002vfc.3_Missense_Mutation_p.V2071L|FN1_uc002vfe.3_Missense_Mutation_p.V2186L|FN1_uc002vff.3_Missense_Mutation_p.V2161L|FN1_uc002vfg.3_Missense_Mutation_p.V2127L|FN1_uc002vfh.3_Missense_Mutation_p.V2007L|FN1_uc002vfi.3_Missense_Mutation_p.V2277L|FN1_uc002vfj.3_Missense_Mutation_p.V2098L|FN1_uc002vfb.3_Missense_Mutation_p.V2096L|FN1_uc002vez.3_Missense_Mutation_p.V471L|FN1_uc010zjp.2_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2217	Fibrin-binding 2.|Fibronectin type-I 12.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCTCCAACGGCATAATGG	0.438												
PAX3	5077	broad.mit.edu	37	2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:223066852C>T	uc010fwo.3	-	7	1612	c.1231G>A	c.(1231-1233)Gcg>Acg	p.A411T	PAX3_uc002vmt.2_Missense_Mutation_p.A411T|PAX3_uc002vmy.2_Missense_Mutation_p.A410T|PAX3_uc002vmv.2_Missense_Mutation_p.A411T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	411					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y410Y(2)|p.A411E(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGAGCGCGTAATCAGTC	0.547			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
KLHL30	377007	broad.mit.edu	37	2	239049594	239049594	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:239049594G>A	uc002vxr.2	+	1	306	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	67	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTGACTTCGCCGAGAGCTT	0.677												
GFRA4	64096	broad.mit.edu	37	20	3640880	3640880	+	Silent	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr20:3640880G>T	uc002wio.3	-	3	744	c.744C>A	c.(742-744)gcC>gcA	p.A248A	GFRA4_uc002win.3_Silent_p.A218A	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	248						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CGCTGGCAAAGGCCTGAATGG	0.647												
ERG	2078	broad.mit.edu	37	21	39755623	39755623	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:39755623A>G	uc010gnw.3	-	11	1458	c.1163T>C	c.(1162-1164)gTc>gCc	p.V388A	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.V381A|ERG_uc011aek.2_Missense_Mutation_p.V289A|ERG_uc010gnv.3_Missense_Mutation_p.V265A|ERG_uc010gnx.3_Missense_Mutation_p.V364A|ERG_uc011ael.2_Missense_Mutation_p.V388A|ERG_uc002yxb.3_Missense_Mutation_p.V364A	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	388					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTTCCCATGGACCTTGGTCAT	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
PRDM15	63977	broad.mit.edu	37	21	43230571	43230571	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:43230571C>T	uc002yzq.1	-	27	3800	c.3689G>A	c.(3688-3690)tGc>tAc	p.C1230Y	PRDM15_uc002yzo.3_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.3_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTGGTCCCGCACAGCTGGCA	0.652												
CELSR1	9620	broad.mit.edu	37	22	46931595	46931595	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr22:46931595G>A	uc003bhw.1	-	0	1473	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	491	Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAATGGCCGCGTTCTGGCCCT	0.632												
ANKRD28	23243	broad.mit.edu	37	3	15778600	15778600	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:15778600G>A	uc003caj.1	-	4	545	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	134						nucleoplasm	protein binding	p.T133R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428												
BCL6	604	broad.mit.edu	37	3	187443315	187443315	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:187443315C>T	uc003frp.3	-	7	2268	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.2_Missense_Mutation_p.C604Y	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	604					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCAGGTTTCGCATTTGTAGGG	0.612			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""							
TAPT1	202018	broad.mit.edu	37	4	16204132	16204132	+	Silent	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr4:16204132A>G	uc010ied.1	-	2	483	c.402T>C	c.(400-402)gtT>gtC	p.V134V	TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.4_Intron	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	134						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GTGCCAGGAAAACTCTTAAAG	0.353												
EGFLAM	133584	broad.mit.edu	37	5	38463973	38463974	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:38463973_38463974insT	uc003jlc.2	+	22	3285_3286	c.2939_2940insT	c.(2938-2940)tatfs	p.Y980fs	EGFLAM_uc003jlb.2_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.2_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.2_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.2_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.2_Frame_Shift_Ins_p.Y62fs	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	980	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACAGGCAATATATGAGAGGGC	0.520												
BRD8	10902	broad.mit.edu	37	5	137476545	137476545	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:137476545C>T	uc003lcf.1	-	25	3519	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1155	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGAGATTTCTCTTCAGGCT	0.428												
WDR46	9277	broad.mit.edu	37	6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	rs141256696	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr6:33255194G>A	uc003ods.3	-	7	1174	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	WDR46_uc011dra.2_Missense_Mutation_p.R219C|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	273										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572												
MACC1	346389	broad.mit.edu	37	7	20199676	20199676	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20199676A>G	uc003sus.4	-	4	617	c.308T>C	c.(307-309)tTc>tCc	p.F103S	MACC1_uc010kug.3_Missense_Mutation_p.F103S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	103					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTCTACAGAAAAGAAAAGG	0.348												
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20767947G>A	uc010kuh.3	+	22	2973	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	467					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353												
OR6V1	346517	broad.mit.edu	37	7	142750291	142750291	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:142750291C>T	uc011ksv.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCTCAATCCCTTTATCCTT	0.507												
DOCK8	81704	broad.mit.edu	37	9	426982	426982	+	Splice_Site	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:426982G>T	uc003zgf.2	+	34	4450	c.4338_splice	c.e34+1	p.Q1446_splice	DOCK8_uc022bcu.1_Splice_Site_p.Q1378_splice|DOCK8_uc010mgv.3_Splice_Site_p.Q1346_splice|DOCK8_uc010mgu.3_Splice_Site_p.Q748_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1446	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATTATCCAGGTGAGGAAAAC	0.383												
RGS3	5998	broad.mit.edu	37	9	116259676	116259677	+	Frame_Shift_Ins	INS	-	-	GCTGAGAG			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:116259676_116259677insGCTGAGAG	uc004bhq.3	+	9	1042_1043	c.833_834insGCTGAGAG	c.(832-834)ccgfs	p.P278fs	RGS3_uc004bhr.3_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.3_Frame_Shift_Ins_p.P168fs	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	278					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGACTGCGGCCGCTGAGAGGTA	0.619												
VAV2	7410	broad.mit.edu	37	9	136656960	136656960	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:136656960C>T	uc004ces.3	-	12	1179	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	VAV2_uc004cer.3_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCTTGTCCCGTTTAACTTC	0.488												
FAM47C	442444	broad.mit.edu	37	X	37028050	37028050	+	Missense_Mutation	SNP	C	C	T	rs145081405		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:37028050C>T	uc004ddl.2	+	0	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	523								p.R523H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.612												
PCDH11X	27328	broad.mit.edu	37	X	91090711	91090711	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:91090711G>A	uc004efk.2	+	0	1053	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PCDH11X_uc004efl.2_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.2_Missense_Mutation_p.G70R|PCDH11X_uc004efm.2_Missense_Mutation_p.G70R|PCDH11X_uc004efn.2_Missense_Mutation_p.G70R|PCDH11X_uc004efo.2_Missense_Mutation_p.G70R|PCDH11X_uc004efh.2_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACAAGACCGGAGATGTGCC	0.458												
VSIG1	340547	broad.mit.edu	37	X	107301373	107301373	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:107301373G>A	uc011msk.2	+	1	316	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_uc004eno.3_Missense_Mutation_p.R52Q	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	52	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468												
