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
ABCD3	5825	broad.mit.edu	37	1	94953473	94953473	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:94953473T>C	uc010oto.2	+	13	1265	c.1163T>C	c.(1162-1164)cTt>cCt	p.L388P	ABCD3_uc001dqn.4_Missense_Mutation_p.L364P|ABCD3_uc010otp.2_Missense_Mutation_p.L291P|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.L52P	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	364					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAAGAATGCTTTTGCGAATG	0.333												
NOTCH2	4853	broad.mit.edu	37	1	120464949	120464949	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:120464949G>C	uc001eik.3	-	27	5420	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1708					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCAGAGAGAGCCATGCTT	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152280892G>A	uc001ezu.1	-	2	6506	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2157S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis			
SPTA1	6708	broad.mit.edu	37	1	158614180	158614180	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:158614180G>C	uc001fst.1	-	29	4400	c.4201C>G	c.(4201-4203)Cag>Gag	p.Q1401E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1401					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTCCCCTGGAACATCTAT	0.453												
F5	2153	broad.mit.edu	37	1	169525893	169525893	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:169525893G>A	uc001ggg.1	-	5	1088	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	315	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCTTGCAAATGTTTTGGGGTG	0.483												
RGL1	23179	broad.mit.edu	37	1	183849845	183849845	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849845A>C	uc001gqm.3	+	5	1087	c.626A>C	c.(625-627)tAt>tCt	p.Y209S	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.Y172S|RGL1_uc010poh.2_Missense_Mutation_p.Y172S|RGL1_uc001gqo.3_Missense_Mutation_p.Y174S|RGL1_uc010poi.2_Missense_Mutation_p.Y174S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	174					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(4)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGCTGGATTATCTCACACGG	0.498												
RGL1	23179	broad.mit.edu	37	1	183849848	183849848	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849848T>A	uc001gqm.3	+	5	1090	c.629T>A	c.(628-630)cTc>cAc	p.L210H	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.L173H|RGL1_uc010poh.2_Missense_Mutation_p.L173H|RGL1_uc001gqo.3_Missense_Mutation_p.L175H|RGL1_uc010poi.2_Missense_Mutation_p.L175H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	175					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGATTATCTCACACGGATG	0.488												
ASPM	259266	broad.mit.edu	37	1	197112574	197112574	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:197112574A>G	uc001gtu.3	-	2	1065	c.808T>C	c.(808-810)Tct>Cct	p.S270P	ASPM_uc001gtv.3_Missense_Mutation_p.S270P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	270					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATTAAAAGAAACTTTTGAA	0.378												
ANO9	338440	broad.mit.edu	37	11	433453	433453	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:433453G>A	uc001lpi.2	-	3	296	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	71						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCTGGTCCCGGATCACCTGG	0.612												
TTC17	55761	broad.mit.edu	37	11	43464880	43464880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:43464880G>A	uc001mxi.3	+	16	2327	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	TTC17_uc001mxh.3_Missense_Mutation_p.V810M|TTC17_uc010rfj.2_Missense_Mutation_p.V753M|TTC17_uc001mxj.3_Missense_Mutation_p.V580M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	753							binding	p.T752T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCAGGTACGGTGGTTGAGGA	0.443												
OR4X1	390113	broad.mit.edu	37	11	48285739	48285739	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:48285739G>A	uc010rht.2	+	0	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGCACTGAGGCCTTTCTCC	0.507												
ACY3	91703	broad.mit.edu	37	11	67413173	67413173	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:67413173C>T	uc001omq.3	-	3	593	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	141					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCAGATGGCGGCACAGGTG	0.617												
RELT	84957	broad.mit.edu	37	11	73102204	73102204	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:73102204G>C	uc001otv.3	+	4	468	c.303G>C	c.(301-303)tgG>tgC	p.W101C	RELT_uc001otw.3_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	101						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGGCCTTGGGGGGTTCCCC	0.587												
OR6M1	390261	broad.mit.edu	37	11	123676770	123676770	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:123676770C>T	uc010rzz.2	-	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATGTTTGGATCATGCAACCAG	0.458												
CNTN1	1272	broad.mit.edu	37	12	41333137	41333137	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:41333137C>T	uc001rmm.1	+	12	1342	c.1229_splice	c.e12-1	p.A410_splice	CNTN1_uc009zjy.2_Splice_Site_p.A410_splice|CNTN1_uc001rmn.1_Splice_Site_p.A399_splice|CNTN1_uc001rmo.3_Splice_Site_p.A410_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	410					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTTTTTAGCGTTGGCTCCA	0.348												
TRHDE	29953	broad.mit.edu	37	12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:72771778C>T	uc001sxa.3	+	2	1087	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353*(2)|p.R353Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308												
TBX5	6910	broad.mit.edu	37	12	114793581	114793581	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:114793581C>T	uc001tvo.3	-	8	1808	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	TBX5_uc001tvp.3_Missense_Mutation_p.R438Q|TBX5_uc001tvq.3_Missense_Mutation_p.R388Q	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	438				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGCCAGCCGAGGGACCAG	0.657												
FAM48A	55578	broad.mit.edu	37	13	37583874	37583876	+	In_Frame_Del	DEL	GAT	GAT	-	rs149036783		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:37583874_37583876delGAT	uc001uwk.3	-	24	2654_2656	c.2406_2408delATC	c.(2404-2409)tcatcg>tcg	p.802_803SS>S	FAM48A_uc010abt.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwg.3_In_Frame_Del_p.H758del|FAM48A_uc001uwh.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.3_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwd.3_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.3_In_Frame_Del_p.H242del|FAM48A_uc001uwf.3_In_Frame_Del_p.H324del	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	723					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CCTGTATGCCGATGATGATGTAG	0.424												
RB1	5925	broad.mit.edu	37	13	48941711	48941711	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:48941711delA	uc001vcb.3	+	9	1187	c.1021delA	c.(1021-1023)aaafs	p.K341fs	RB1_uc010act.1_Frame_Shift_Del_p.K42fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	341					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.D340fs*5(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATCATGATAAAACTCTTCA	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
CLYBL	171425	broad.mit.edu	37	13	100425234	100425234	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:100425234C>G	uc001vok.3	+	1	250	c.219C>G	c.(217-219)gaC>gaG	p.D73E	CLYBL_uc010tix.2_Missense_Mutation_p.D73E|CLYBL_uc010tiy.2_Missense_Mutation_p.D73E	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	73					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCTCGACTGTGAGGATG	0.398												
ATP11A	23250	broad.mit.edu	37	13	113485796	113485796	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:113485796C>T	uc001vsj.4	+	12	1417	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ATP11A_uc001vsi.4_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	443					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCATCTGCAACGGGCAGGTCC	0.587												
MYH7	4625	broad.mit.edu	37	14	23883029	23883029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23883029G>A	uc001wjx.3	-	38	5835	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1910					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGATGTCCGCCCGCTCCTC	0.622												
MYH7	4625	broad.mit.edu	37	14	23902877	23902877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23902877T>C	uc001wjx.3	-	2	171	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	22	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTAGCCGCTCCTTCTCTGA	0.577												
LTBP2	4053	broad.mit.edu	37	14	74992813	74992813	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:74992813G>A	uc001xqa.3	-	13	2780	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	798					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACACTGGTCGTGACCTGCAC	0.577												
NRXN3	9369	broad.mit.edu	37	14	79181464	79181464	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:79181464G>C	uc001xun.3	+	4	1398	c.907G>C	c.(907-909)Gga>Cga	p.G303R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G437R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGATACTGGGGAAGAACCTG	0.587												
TDRD9	122402	broad.mit.edu	37	14	104481128	104481128	+	Nonsense_Mutation	SNP	C	C	T	rs143367834		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:104481128C>T	uc001yom.4	+	20	2203	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	TDRD9_uc001yon.4_Nonsense_Mutation_p.R463*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	725					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATTCTCGGCGACCTGTCAT	0.368												
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:20644850G>A	uc001ytg.3	-	20	3117	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.A803V|HERC2P3_uc010tyy.2_Missense_Mutation_p.A803V					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.A803V(8)|p.R802K(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463												
NDN	4692	broad.mit.edu	37	15	23931758	23931758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:23931758G>A	uc001ywk.3	-	0	693	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	203	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGCCGCGGCCCTTCACG	0.662									Prader-Willi syndrome			
CSPG4	1464	broad.mit.edu	37	15	75980642	75980642	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:75980642G>T	uc002baw.3	-	2	2857	c.2764C>A	c.(2764-2766)Ctc>Atc	p.L922I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	922	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGACAAAGAGGTGGTCAGCA	0.597												
SYNM	23336	broad.mit.edu	37	15	99669677	99669677	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:99669677G>A	uc002bup.3	+	4	1229	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	SYNM_uc002buo.3_Missense_Mutation_p.S370N|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	371	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCAATCACAGCTCGGCACTG	0.463												
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:9943739G>A	uc010uym.2	-	5	1512	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(2)|p.P401P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587												
HYDIN	54768	broad.mit.edu	37	16	70866858	70866858	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:70866858C>T	uc002ezr.3	-	79	13940	c.13789G>A	c.(13789-13791)Gtg>Atg	p.V4597M	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4598										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTTCCCACCTCGGTGGGA	0.493												
PRDM7	11105	broad.mit.edu	37	16	90128375	90128375	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:90128375C>T	uc010cje.3	-	6	856	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PRDM7_uc002fqo.3_Missense_Mutation_p.R73Q|PRDM7_uc010cjf.3_Missense_Mutation_p.R162Q|PRDM7_uc010cjg.1_Missense_Mutation_p.R73Q|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	279	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTGTAATTCGGCCCTCATA	0.547												
MYOCD	93649	broad.mit.edu	37	17	12626268	12626268	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:12626268G>A	uc002gno.2	+	4	657	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYOCD_uc002gnn.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	120					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGCCACTGGAGCTGGTGGA	0.468												
CCL14	6358	broad.mit.edu	37	17	34311432	34311432	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:34311432G>A	uc010wcr.1	-	1	215	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	46					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.P45R(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGCTGACGCGGGATCTTG	0.552												
KRT38	8687	broad.mit.edu	37	17	39597030	39597030	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:39597030G>A	uc002hwq.1	-	0	567	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	48	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CATGTGCCACGTTGGCCAAAA	0.632												
BPTF	2186	broad.mit.edu	37	17	65822381	65822383	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:65822381_65822383delGAC	uc002jgf.3	+	0	602_604	c.541_543delGAC	c.(541-543)gacdel	p.D185del	BPTF_uc002jge.3_In_Frame_Del_p.D185del|BPTF_uc010wqm.1_In_Frame_Del_p.D185del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	185	Asp-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAGATGGAAGACGACGACGACG	0.591												
ABCA9	10350	broad.mit.edu	37	17	67041451	67041451	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:67041451C>T	uc002jhu.3	-	3	474	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ABCA9_uc010dez.3_Missense_Mutation_p.E111K|ABCA9_uc002jhv.3_Missense_Mutation_p.E111K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	111					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGCTTTTTTCATCAGGCCAC	0.383												
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358												
CABYR	26256	broad.mit.edu	37	18	21735681	21735681	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:21735681A>T	uc002kux.3	+	3	368	c.216A>T	c.(214-216)gaA>gaT	p.E72D	CABYR_uc021uig.1_Missense_Mutation_p.E54D|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.E72D|CABYR_uc002kuz.3_Missense_Mutation_p.E72D|CABYR_uc002kva.3_Missense_Mutation_p.E54D|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.E72D|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	72					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATGGTCAGAAGGAACGACAC	0.328												
MEP1B	4225	broad.mit.edu	37	18	29784271	29784271	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:29784271G>A	uc002kxj.4	+	6	542	c.495G>A	c.(493-495)tcG>tcA	p.S165S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	165	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGAGCAGTCGCGTTCTGACC	0.458												
TNFRSF11A	8792	broad.mit.edu	37	18	60017106	60017106	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:60017106G>A	uc002lin.3	+	2	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_uc010dpv.3_Silent_p.P73P	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	73					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.P73P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423												
HMHA1	23526	broad.mit.edu	37	19	1080969	1080969	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:1080969C>T	uc002lqz.1	+	16	2327	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCAAGGCGGCCCGTACT	0.682												
RDH8	50700	broad.mit.edu	37	19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:10131987C>T	uc002mmr.3	+	4	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	198					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602												
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:15651449G>A	uc002nbh.4	+	7	1027	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	287						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632												
GTPBP3	84705	broad.mit.edu	37	19	17452117	17452117	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:17452117G>A	uc002ngg.4	+	6	1430	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	GTPBP3_uc010xpo.2_Silent_p.K435K|GTPBP3_uc010eas.3_Silent_p.K413K|GTPBP3_uc002ngh.4_Silent_p.K392K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	413					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGCTGAGGAAGGAGCTAGCTG	0.642												
PGPEP1	54858	broad.mit.edu	37	19	18468321	18468321	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:18468321C>T	uc002nis.1	+	3	417	c.333C>T	c.(331-333)gaC>gaT	p.D111D	PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.	111							cysteine-type peptidase activity										GCGTGGAGGACGGGCCTGAAA	0.592												
ZNF599	148103	broad.mit.edu	37	19	35250777	35250777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:35250777G>T	uc010edn.1	-	3	1317	c.929C>A	c.(928-930)cCc>cAc	p.P310H	ZNF599_uc010edm.2_Missense_Mutation_p.P273H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCATAAAAAGGGTTTTTCTCG	0.418												
CCDC8	83987	broad.mit.edu	37	19	46914658	46914658	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:46914658C>T	uc002pep.3	-	0	2262	c.1410G>A	c.(1408-1410)agG>agA	p.R470R		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	470						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTTCCGGGCCCTGGCTCCTG	0.612												
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:52942354A>G	uc002pzk.3	+	3	1747	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433												
LILRB1	10859	broad.mit.edu	37	19	55147969	55147969	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55147969C>A	uc002qgj.3	+	14	2012	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.3_Missense_Mutation_p.Q560K|LILRB1_uc010erq.3_Missense_Mutation_p.Q542K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	558					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGAAGACCCCCAGGCAGTGAC	0.572										HNSCC(37;0.09)		
NLRP7	199713	broad.mit.edu	37	19	55451000	55451000	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55451000C>T	uc002qih.4	-	3	1263	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP7_uc010esk.3_Missense_Mutation_p.R396H|NLRP7_uc002qig.4_Missense_Mutation_p.R396H|NLRP7_uc002qii.4_Missense_Mutation_p.R396H|NLRP7_uc010esl.3_Missense_Mutation_p.R424H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	396	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAGGAAACGCAGGAACAG	0.706												
PUM2	23369	broad.mit.edu	37	2	20482930	20482930	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:20482930G>A	uc002rds.1	-	10	1516	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	PUM2_uc002rdt.1_Missense_Mutation_p.R500W|PUM2_uc002rdr.2_Missense_Mutation_p.R439W|PUM2_uc010yjy.1_Missense_Mutation_p.R500W|PUM2_uc002rdu.1_Missense_Mutation_p.R500W|PUM2_uc010yjz.1_Missense_Mutation_p.R439W	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	500					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATTGGCCGAAACAGACCA	0.453												
QPCT	25797	broad.mit.edu	37	2	37599531	37599531	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:37599531G>A	uc002rqg.3	+	5	978	c.856G>A	c.(856-858)Gat>Aat	p.D286N		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	286					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTGCTCAAGGATCACTCTTT	0.358												
SLC5A7	60482	broad.mit.edu	37	2	108614387	108614387	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:108614387T>A	uc002tdv.3	+	4	818	c.542T>A	c.(541-543)cTc>cAc	p.L181H	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L181H|SLC5A7_uc010ywn.2_Missense_Mutation_p.L68H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	181					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGGAGGGCTCTATTCTGTG	0.473												
CNTNAP5	129684	broad.mit.edu	37	2	125530385	125530385	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:125530385A>G	uc010flu.3	+	16	2907	c.2543A>G	c.(2542-2544)gAg>gGg	p.E848G	CNTNAP5_uc002tno.3_Missense_Mutation_p.E847G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCTTCAGAGATCACCTTT	0.488												
SCN7A	6332	broad.mit.edu	37	2	167273364	167273364	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:167273364G>A	uc002udu.2	-	19	3397	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1089					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACTTGTTGGGTCAATGCATT	0.398												
TTN	7273	broad.mit.edu	37	2	179453519	179453519	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179453519T>C	uc021vsy.1	-	252	55454	c.55229A>G	c.(55228-55230)gAa>gGa	p.E18410G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12105G|TTN_uc021vta.1_Missense_Mutation_p.E12038G|TTN_uc021vtb.1_Missense_Mutation_p.E11913G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19337	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18410fs*15(1)		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)			AGTCATCTCTTCTTTGCTTAC	0.438												
TTN	7273	broad.mit.edu	37	2	179522849	179522849	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179522849T>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.I675F	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)			GCCACGGGAATTTCTTTTTCT	0.413												
STAT1	6772	broad.mit.edu	37	2	191862990	191862990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191862990G>A	uc010fse.2	-	6	1018	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	196					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGTAACAGCTGTTCTTGTTTC	0.343												
STAT4	6775	broad.mit.edu	37	2	191926501	191926501	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191926501T>C	uc002usm.2	-	9	1303	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	STAT4_uc002usn.2_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	330					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAACGGCCTCTGAGGGTGG	0.403												
SPHKAP	80309	broad.mit.edu	37	2	228883868	228883868	+	Missense_Mutation	SNP	C	C	T	rs149295795	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:228883868C>T	uc002vpq.2	-	6	1749	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	568						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGACAGCCACGGCACTGGCC	0.562												
PHF20	51230	broad.mit.edu	37	20	34526877	34526877	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:34526877G>A	uc002xek.1	+	15	2670	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCGTGGAGCAGAAGCTGGTGG	0.647												
SEMG2	6406	broad.mit.edu	37	20	43836560	43836560	+	Missense_Mutation	SNP	C	C	T	rs141417035	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:43836560C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R208C|SEMG2_uc002xnj.2_Missense_Mutation_p.R208C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.403												
ADAMTS1	9510	broad.mit.edu	37	21	28217207	28217207	+	Silent	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:28217207G>T	uc002ymf.3	-	0	522	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	23					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCGGAGCCCGCTCCGCGTTC	0.711											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LTN1	26046	broad.mit.edu	37	21	30359239	30359239	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:30359239C>T	uc002ymr.2	-	1	210	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	20							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTCTGCAGCTCGGCCACTGTT	0.433												
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:42071074G>A	uc003bav.3	-	2	363	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577												
EFCAB6	64800	broad.mit.edu	37	22	43933388	43933388	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:43933388G>A	uc003bdy.2	-	28	4231	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1154L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1154L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1306	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTTCTGCAAGGGTGGAGTGCC	0.517												
C3orf45	132228	broad.mit.edu	37	3	50324238	50324238	+	Silent	SNP	C	C	T	rs116862338	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:50324238C>T	uc003cyz.3	+	2	333	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215	NP_694947	Q8N112	CC045_HUMAN	Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.	102						integral to membrane				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCTGCTCGCGCTGCTGG	0.617												
STAB1	23166	broad.mit.edu	37	3	52540843	52540843	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:52540843G>A	uc003dej.3	+	17	2040	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	STAB1_uc003dei.1_Missense_Mutation_p.E656K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	656					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCACTGCAGCGAGGAGCAGCA	0.642												
C3orf67	200844	broad.mit.edu	37	3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:58856003G>A	uc003dkt.1	-	7	782	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R33W	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378												
TBC1D23	55773	broad.mit.edu	37	3	100002647	100002648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:100002647_100002648insA	uc003dtt.3	+	3	645_646	c.468_469insA	c.(466-471)tacattfs	p.Y156fs	TBC1D23_uc003dts.3_Frame_Shift_Ins_p.Y156fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	156	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGAATAAGTACATTCCCAGGTA	0.381												
KIAA1524	57650	broad.mit.edu	37	3	108279495	108279495	+	Splice_Site	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:108279495C>T	uc003dxb.4	-	14	2096	c.1827_splice	c.e14+1	p.V609_splice		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	609						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCACTCACCACCATTCCA	0.328												
COL6A5	256076	broad.mit.edu	37	3	130174429	130174429	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:130174429A>T	uc010htj.1	+	36	7203	c.6709A>T	c.(6709-6711)Agc>Tgc	p.S2237C	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S276C|COL6A5_uc010htk.1_Missense_Mutation_p.S276C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2237	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTACCTTCCAAGCCAAATGTT	0.358												
PRR23C	389152	broad.mit.edu	37	3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:138762829G>A	uc011bmt.1	-	0	906	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647												
LEKR1	389170	broad.mit.edu	37	3	156763371	156763371	+	Silent	SNP	C	C	T	rs144318565		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:156763371C>T	uc021xgh.1	+	12	2025	c.1911C>T	c.(1909-1911)cgC>cgT	p.R637R	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552												
METTL19	152992	broad.mit.edu	37	4	8472818	8472818	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8472818A>G	uc003glg.2	+	9	1953	c.1935A>G	c.(1933-1935)ctA>ctG	p.L645L	METTL19_uc003glh.1_Silent_p.L253L|METTL19_uc003gli.1_5'Flank	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	645					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						CAGAGAGCCTATCTCTGGCAG	0.532												
GPR78	27201	broad.mit.edu	37	4	8588808	8588808	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8588808C>T	uc003glk.3	+	2	1303	c.810C>T	c.(808-810)acC>acT	p.T270T	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	270					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCGTCACCGTGAACGCCC	0.662												
CENPE	1062	broad.mit.edu	37	4	104044141	104044141	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:104044141T>C	uc003hxb.1	-	42	7120	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E	CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2344	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGTTTTTAAATAGTTTT	0.378												
ING2	3622	broad.mit.edu	37	4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:184431464G>A	uc003ivs.1	+	1	331	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_uc011ckk.1_Missense_Mutation_p.E28K	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	68					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.E68K(2)|p.Y67C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318												
SLC6A18	348932	broad.mit.edu	37	5	1244741	1244741	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:1244741G>A	uc003jby.2	+	10	1638	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	505					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGACATTGCGTGGATGACCG	0.612												
BASP1	10409	broad.mit.edu	37	5	17275800	17275800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:17275800G>A	uc003jfx.3	+	1	654	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	BASP1_uc021xws.1_Missense_Mutation_p.A159T	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	159					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGCTCCTGCCGCCCAGGAGAC	0.711												
DDX4	54514	broad.mit.edu	37	5	55083676	55083676	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:55083676G>A	uc003jqg.4	+	14	1119	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DDX4_uc010ivz.3_Silent_p.A320A|DDX4_uc003jqh.4_Silent_p.A306A|DDX4_uc003jqj.3_Silent_p.A191A	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	340	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCTAGGCGGCTTTTCTCC	0.383												
DMGDH	29958	broad.mit.edu	37	5	78340364	78340364	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:78340364G>A	uc003kfs.3	-	5	763	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	DMGDH_uc011cte.1_Missense_Mutation_p.R103C|DMGDH_uc011ctf.1_Missense_Mutation_p.R52C|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	253					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTACTTCACGAGCCCAAAAT	0.318												
FAM81B	153643	broad.mit.edu	37	5	94749817	94749817	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:94749817T>A	uc003kla.1	+	3	506	c.460T>A	c.(460-462)Tcg>Acg	p.S154T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	154								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAAGAGGAATCGCTCGCCAG	0.478												
RAPGEF6	51735	broad.mit.edu	37	5	130940379	130940379	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:130940379T>A	uc003kvn.2	-	1	283	c.77A>T	c.(76-78)aAt>aTt	p.N26I	RAPGEF6_uc003kvp.2_Missense_Mutation_p.N76I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.N26I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.N26I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.N26I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	26					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAAATAGTATTTAAGTCCTG	0.318												
FBXO38	81545	broad.mit.edu	37	5	147796556	147796556	+	Splice_Site	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796556G>C	uc003lpf.1	+	12	1528	c.1408_splice	c.e12-1	p.G470_splice	FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	470						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCCTTAGGGTTGTGCTC	0.368												
FBXO38	81545	broad.mit.edu	37	5	147796638	147796638	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796638G>C	uc003lpf.1	+	11	1609	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	497						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAACAATGACGATAATAA	0.453												
NIPAL4	348938	broad.mit.edu	37	5	156890242	156890242	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:156890242C>G	uc003lwx.4	+	1	480	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	122						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACATCGGCCTGGGCCTGGC	0.577												
GABRA1	2554	broad.mit.edu	37	5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:161324318C>T	uc010jiw.3	+	10	1729	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_uc010jix.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.R421*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	421					gamma-aminobutyric acid signaling pathway|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.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAAATTGACCGACTGTCAAG	0.443												
MCHR2	84539	broad.mit.edu	37	6	100382322	100382322	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100382322A>G	uc003pqh.1	-	4	974	c.659T>C	c.(658-660)aTt>aCt	p.I220T	MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAGCATAAAATTAAAATATA	0.328												
MCHR2	84539	broad.mit.edu	37	6	100395726	100395726	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100395726C>A	uc003pqh.1	-	2	619	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MCHR2_uc003pqi.1_Missense_Mutation_p.G102W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGGCCCCCCAAACACCCAC	0.488												
HDAC2	3066	broad.mit.edu	37	6	114265495	114265495	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:114265495G>C	uc003pwd.2	-	10	1458	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	HDAC2_uc003pwc.2_Missense_Mutation_p.H361D|HDAC2_uc003pwe.2_Missense_Mutation_p.H361D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	391					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTGTCTTCATGAACAGCATCT	0.363												
MAP7	9053	broad.mit.edu	37	6	136682257	136682257	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:136682257C>T	uc011edg.2	-	11	1926	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	MAP7_uc011edf.2_Silent_p.E514E|MAP7_uc010kgu.3_Silent_p.E551E|MAP7_uc011edh.2_Silent_p.E514E|MAP7_uc010kgv.3_Silent_p.E551E|MAP7_uc010kgs.3_Silent_p.E383E|MAP7_uc011edi.2_Silent_p.E383E|MAP7_uc010kgq.2_Silent_p.E435E|MAP7_uc003qgz.3_Silent_p.E529E|MAP7_uc003qha.2_Silent_p.E492E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	529					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCGCGACTCCTCCTCACGGC	0.617												
AP5Z1	9907	broad.mit.edu	37	7	4820908	4820908	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:4820908C>T	uc003sne.3	+	1	229	c.144C>T	c.(142-144)ctC>ctT	p.L48L	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	48					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										TGCAGAGGCTCTTCCTCATCA	0.632												
ABCB5	340273	broad.mit.edu	37	7	20744386	20744386	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:20744386G>A	uc010kuh.3	+	19	2614	c.2377G>A	c.(2377-2379)Ggc>Agc	p.G793S	ABCB5_uc003suw.4_Missense_Mutation_p.G348S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	348	ABC transporter 2.				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						CAGCACAGGAGGCTTGACAAC	0.328												
CHN2	1124	broad.mit.edu	37	7	29539600	29539600	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:29539600A>C	uc003szz.3	+	8	1294	c.857A>C	c.(856-858)cAc>cCc	p.H286P	CHN2_uc011jzs.2_Missense_Mutation_p.H361P|CHN2_uc010kva.3_Missense_Mutation_p.H56P|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.H251P|CHN2_uc011jzt.2_Missense_Mutation_p.H299P|CHN2_uc010kvd.3_Missense_Mutation_p.H142P|CHN2_uc011jzu.2_Missense_Mutation_p.H271P|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Missense_Mutation_p.H150P|CHN2_uc010kve.3_Missense_Mutation_p.H150P|CHN2_uc003taa.3_Missense_Mutation_p.H150P|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Missense_Mutation_p.H150P|CHN2_uc010kvj.3_Missense_Mutation_p.H105P|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.H105P|CHN2_uc011jzv.2_Missense_Mutation_p.H79P	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGAAGGCTCACAACACTCAG	0.413												
CCDC129	223075	broad.mit.edu	37	7	31682400	31682400	+	Silent	SNP	G	G	A	rs146986060		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:31682400G>A	uc011kae.2	+	10	1506	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S	CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tcj.1_Silent_p.S472S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc003tck.1_Silent_p.S380S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	472										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTAGAGTCGGATGGGCCAG	0.502												
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					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.V30_R297>G(5)|p.L62R(5)		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)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CALN1	83698	broad.mit.edu	37	7	71275350	71275350	+	Missense_Mutation	SNP	G	G	A	rs143545775		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:71275350G>A	uc003twb.4	-	5	1020	c.629C>T	c.(628-630)tCg>tTg	p.S210L	CALN1_uc003twa.4_Missense_Mutation_p.S168L|CALN1_uc003twc.4_Missense_Mutation_p.S168L	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	168						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.S168L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCAGTTCCCCGAGGTCTCATT	0.507												
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:72093896C>T	uc011kej.2	-	13	1749	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	531					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537												
MUC3A	4584	broad.mit.edu	37	7	100609886	100609886	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:100609886C>T	uc003uxl.1	+	8	3026	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTTTCGAGGACGACGGAACAG	0.612												
PIK3CG	5294	broad.mit.edu	37	7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106508826G>A	uc003vdv.4	+	1	905	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_uc003vdu.3_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V274I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	274					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V274I(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGCTGCGCGTCTGTGGCCG	0.542												
PIK3CG	5294	broad.mit.edu	37	7	106509352	106509352	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106509352C>T	uc003vdv.4	+	1	1431	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PIK3CG_uc003vdu.3_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S449F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	449					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTGCAGAGTCCCCCAGTTCT	0.517												
GCC1	79571	broad.mit.edu	37	7	127222169	127222169	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:127222169G>C	uc003vma.3	-	1	2645	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	743	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCTGTGAGAGTCTGCTGG	0.542												
MGAM	8972	broad.mit.edu	37	7	141736628	141736628	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:141736628G>T	uc003vwy.3	+	17	2136	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCAGGACCAGGATCCTGCCT	0.483												
CNTNAP2	26047	broad.mit.edu	37	7	146825878	146825878	+	Missense_Mutation	SNP	G	G	A	rs145832489		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:146825878G>A	uc003weu.2	+	6	1549	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	345	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V345I(2)|p.G344G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTACAATGGCGTCAACATTAC	0.413										HNSCC(39;0.1)		
SSPO	23145	broad.mit.edu	37	7	149517991	149517991	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:149517991G>A	uc010lpk.3	+	86	12325	c.12325G>A	c.(12325-12327)Gtg>Atg	p.V4109M	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4112					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGTGGCTGCGTGCCAATTGG	0.667												
DOCK5	80005	broad.mit.edu	37	8	25159899	25159899	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25159899G>A	uc003xeg.3	+	9	1042	c.905G>A	c.(904-906)cGc>cAc	p.R302H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.3_Missense_Mutation_p.R302H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	302						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGATTGTCCGCGTGGGCCAT	0.572												
DOCK5	80005	broad.mit.edu	37	8	25189802	25189802	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25189802T>A	uc003xeg.3	+	18	2076	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.3_Missense_Mutation_p.S217T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	647	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCGTTCCAACTCCCAGAACAT	0.378												
DOCK5	80005	broad.mit.edu	37	8	25265580	25265580	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25265580C>T	uc003xeg.3	+	48	5312	c.5175C>T	c.(5173-5175)agC>agT	p.S1725S	DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1725						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGAACAGCGAGAACCGGA	0.498												
PTK2B	2185	broad.mit.edu	37	8	27308400	27308400	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:27308400G>A	uc003xfn.2	+	29	3283	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PTK2B_uc022ate.1_Silent_p.E825E|PTK2B_uc003xfp.2_Silent_p.E825E|PTK2B_uc003xfq.2_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	825	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCAGGCAGGAGGAGAAGTCCC	0.607												
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:39111964C>T	uc003xmt.4	+	17	2179	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_uc011lch.2_Missense_Mutation_p.S546L|ADAM32_uc003xmu.4_Missense_Mutation_p.S539L|ADAM32_uc003xmv.3_Missense_Mutation_p.S69L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	645	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363												
JPH1	56704	broad.mit.edu	37	8	75227467	75227467	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:75227467C>T	uc003yae.3	-	1	808	c.768G>A	c.(766-768)acG>acA	p.T256T	JPH1_uc003yaf.3_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	256	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAAAGCTGATCGTGGAGTTGG	0.557												
DCSTAMP	81501	broad.mit.edu	37	8	105361318	105361318	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:105361318C>T	uc003ylx.1	+	1	587	c.538C>T	c.(538-540)Cat>Tat	p.H180Y		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	180					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CAGTCCCAGCCATGTCCTGGA	0.507												
CNTNAP3	79937	broad.mit.edu	37	9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:39176040C>T	uc004abi.3	-	6	1216	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_uc004abj.3_Missense_Mutation_p.R326H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R326H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R326H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	326	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388												
FOXD4L5	653427	broad.mit.edu	37	9	70177155	70177155	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:70177155C>T	uc010moc.3	-	0	1661	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	277					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CCGGCATAGACGGGGGCCGAG	0.687												
FAM75D5	347127	broad.mit.edu	37	9	84530455	84530455	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:84530455G>A	uc011lst.2	+	3	477	c.376G>A	c.(376-378)Gat>Aat	p.D126N						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		GTCCCTGAAAGATGCTGTTCC	0.537												
PAPPA	5069	broad.mit.edu	37	9	118949533	118949533	+	Missense_Mutation	SNP	C	C	G	rs141909455		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:118949533C>G	uc004bjn.3	+	1	897	c.516C>G	c.(514-516)ttC>ttG	p.F172L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	172					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACTTTTTCTCCTTGAAGA	0.537												
NUP214	8021	broad.mit.edu	37	9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:134016058C>T	uc004cag.3	+	10	1366	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP214_uc004cah.3_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	419					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
DMD	1756	broad.mit.edu	37	X	32486813	32486813	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:32486813A>G	uc004dda.1	-	22	3208	c.2964T>C	c.(2962-2964)tcT>tcC	p.S988S	DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	988					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTGCAGAGAACTTTGTA	0.333												
RPGR	6103	broad.mit.edu	37	X	38182768	38182768	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:38182768G>A	uc004ded.1	-	1	206	c.38C>T	c.(37-39)gCt>gTt	p.A13V	RPGR_uc004deb.3_Missense_Mutation_p.A13V|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	13					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGTAAACACAGCACCCGAATC	0.318												
BHLHB9	80823	broad.mit.edu	37	X	102004542	102004543	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:102004542_102004543insA	uc022cbi.1	+	0	619_620	c.619_620insA	c.(619-621)gaafs	p.E207fs	BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E207fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	207						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATTAATGAAAAAAATAGG	0.450												
IL1RAPL2	26280	broad.mit.edu	37	X	105011591	105011591	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:105011591C>A	uc004elz.1	+	10	2754	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	666					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGAATTTCACAGGAACAGTT	0.428												
COL4A5	1287	broad.mit.edu	37	X	107841977	107841977	+	Missense_Mutation	SNP	G	G	A	rs104886135		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:107841977G>A	uc022ccg.1	+	24	2027	c.1825G>A	c.(1825-1827)Ggt>Agt	p.G609S	COL4A5_uc004enz.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	609	Triple-helical region.		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGAACCCAGGTTTACCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis