Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGAP32	9743	broad.mit.edu	37	11	128839062	128839062	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:128839062T>A	ENST00000310343.9	-	22	6003	c.6004A>T	c.(6004-6006)Agt>Tgt	p.S2002C	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1653C|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1653C|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2002	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TACAGCACACTGGGGTCCCTC	0.542000													18	48					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73902406	73902406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:73902406G>C	ENST00000342056.2	+	14	2283	c.1885G>C	c.(1885-1887)Gaa>Caa	p.E629Q	KCNQ5_ENST00000403813.2_Missense_Mutation_p.E601Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E610Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E620Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E611Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E610Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E500Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	610					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGTCAAGGTTGAAAAACAGGT	0.373000													18	25					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205900	100205900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:100205900G>A	ENST00000209668.2	-	4	433	c.320C>T	c.(319-321)cCg>cTg	p.P107L	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTTGCTCTCCGGGTTTTTACA	0.418000													25	187					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120393837	120393837	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:120393837C>T	ENST00000283871.5	-	3	547		c.e3-1		HGD_ENST00000488183.1_Splice_Site	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GAGGATTATTCTGAAACAAAG	0.488000													58	73					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326881	28326881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:28326881G>A	ENST00000354638.3	-	2	295	c.140C>T	c.(139-141)cCc>cTc	p.P47L	OCA2_ENST00000382996.2_Missense_Mutation_p.P47L|OCA2_ENST00000353809.5_Missense_Mutation_p.P47L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	47					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTGCGAGGGGTCAGCTCC	0.657000									Oculocutaneous Albinism				9	12					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111741695	111741695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:111741695C>T	ENST00000374595.4	-	7	1046	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.E323K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.E323K			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	323					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGATGACTTCCAATGTCACA	0.438000													36	9					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26946683	26946683	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:26946683A>T	ENST00000528896.2	-	31	5705	c.5631T>A	c.(5629-5631)aaT>aaA	p.N1877K	KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.N1734K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.N1734K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1877						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGATGAGGATATTCAGTTCTT	0.483000													7	17					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69734578	69734578	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:69734578G>C	ENST00000409085.4	-	15	2515	c.2139C>G	c.(2137-2139)aaC>aaG	p.N713K	AAK1_ENST00000406297.3_Missense_Mutation_p.N713K|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	713						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CAAAGTCCTTGTTTAGCAGTT	0.403000													9	8					0	0	1	0	0
RABL2B	11158	broad.mit.edu	37	22	51207205	51207205	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:51207205C>G	ENST00000395595.3	-	10	1156	c.689G>C	c.(688-690)tGa>tCa	p.*230S	RABL2B_ENST00000354869.3_Nonstop_Mutation_p.*230S|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395598.3_Nonstop_Mutation_p.*229S|RABL2B_ENST00000395591.1_Nonstop_Mutation_p.*166S|RABL2B_ENST00000395593.3_Nonstop_Mutation_p.*239S|RABL2B_ENST00000435118.1_Nonstop_Mutation_p.*229S	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	0					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCCCCTCAGCTGTGGGG	0.577000													14	37					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47244452	47244452	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:47244452G>T	ENST00000371941.3	-	38	4838	c.4816C>A	c.(4816-4818)Cac>Aac	p.H1606N	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1606					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCAACCCGTGGCTCCGTGCC	0.692000													6	19					1.12685e-05	1.18051e-05	1	1	0
DGKI	9162	broad.mit.edu	37	7	137363351	137363351	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:137363351C>A	ENST00000424189.2	-	3	787	c.558G>T	c.(556-558)tcG>tcT	p.S186S	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Silent_p.S186S|DGKI_ENST00000288490.5_Silent_p.S186S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	186					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGAGGTCTCCCGAGACGTTGG	0.507000													63	125					1.17253e-29	1.44707e-29	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151424301	151424301	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:151424301G>T	ENST00000370314.4	-	5	738	c.500C>A	c.(499-501)cCc>cAc	p.P167H	GABRA3_ENST00000535043.1_Missense_Mutation_p.P167H	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	167					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGCTTGTTGGGCGTGGTCAT	0.498000													51	14					4.78724e-31	5.93712e-31	1	1	0
CCDC27	148870	broad.mit.edu	37	1	3669110	3669110	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:3669110C>A	ENST00000294600.2	+	1	149	c.65C>A	c.(64-66)cCg>cAg	p.P22Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	22										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGGGAAAAGCCGGGCCTGTCC	0.572000													40	41					2.87052e-16	3.3011e-16	1	1	0
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388000													5	213					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103271239	103271239	+	Splice_Site	SNP	C	C	T	rs62517166		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:103271239C>T	ENST00000553106.1	-	4	914		c.e4+1		PAH_ENST00000551988.1_Splice_Site|PAH_ENST00000307000.2_Splice_Site	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CATGGACTCACAGGGTGGTCA	0.502000													18	45					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10051357	10051357	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:10051357A>G	ENST00000256190.8	-	5	605	c.468T>C	c.(466-468)atT>atC	p.I156I	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	156	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGGTTTGCAATTAGACTTT	0.458000													50	103					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	26					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116176038	116176038	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:116176038G>A	ENST00000288462.4	+	3	597		c.e3-1		C9orf43_ENST00000374165.1_Splice_Site|C9orf43_ENST00000490544.1_Splice_Site	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43											breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGCCTTCTTAGATAAACTCCC	0.453000													15	10					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430501	49430501	+	Missense_Mutation	SNP	C	C	T	rs140378939	byFrequency	TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:49430501C>T	ENST00000299191.3	+	4	679	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	188										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGCTTACGAACGCAAGCTAAA	0.507000													17	20					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128446741	128446741	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:128446741G>A	ENST00000297788.4	+	9	1615		c.e9-1		CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Splice_Site	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136							integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCTACCATAGGAGTTACTGT	0.542000													7	24					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916953	149916953	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:149916953G>C	ENST00000369135.4	-	12	1629	c.1335C>G	c.(1333-1335)gcC>gcG	p.A445A		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACTCAGGCTGGGCCAGAGGAG	0.612000													11	14					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810374	140810374	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140810374G>A	ENST00000252085.3	+	1	190	c.48G>A	c.(46-48)ctG>ctA	p.L16L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCCTGCTGGGAATCCTCC	0.527000													44	40					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24770052	24770052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:24770052C>T	ENST00000267425.3	+	2	779	c.686C>T	c.(685-687)tCc>tTc	p.S229F	NOP9_ENST00000396802.3_Missense_Mutation_p.S229F	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCCCGTGGTTCCCAATCATCT	0.468000													21	25					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107414461	107414461	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:107414461G>C	ENST00000340010.5	-	17	2095	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	637	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCTCAATGTTGAGAGGAAGAT	0.458000													35	64					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656336	51656336	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:51656336C>T	ENST00000317643.6	+	7	1307	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.S320F	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	413					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGACTGAGTCCTGGGCAGAT	0.537000													88	88					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121377157	121377157	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:121377157G>T	ENST00000314583.3	-	2	129	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	HCLS1_ENST00000428394.2_Missense_Mutation_p.S13Y	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	13					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GGTCTCCACGGAAACAGACAC	0.507000													26	43					2.4375e-19	2.88171e-19	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96239912	96239912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:96239912G>C	ENST00000347108.3	-	18	2531	c.2099C>G	c.(2098-2100)cCa>cGa	p.P700R	DZIP1_ENST00000361396.2_Missense_Mutation_p.P681R|DZIP1_ENST00000376829.2_Missense_Mutation_p.P700R|DZIP1_ENST00000361156.3_Missense_Mutation_p.P681R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	700					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CACAGGAAGTGGGCCTGGGGA	0.577000													27	42					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790641	4790641	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:4790641A>G	ENST00000380383.1	-	1	527	c.528T>C	c.(526-528)taT>taC	p.Y176Y	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.Y169Y|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	169						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTACAGAAATAGAGAGGCT	0.383000													24	32					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733475	56733475	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:56733475G>A	ENST00000587340.1	-	7	1655	c.960C>T	c.(958-960)ggC>ggT	p.G320G	ZSCAN5A_ENST00000391713.1_Silent_p.G320G|ZSCAN5A_ENST00000587492.1_Silent_p.G174G|ZSCAN5A_ENST00000254165.3_Silent_p.G203G|ZSCAN5A_ENST00000592355.1_Silent_p.G319G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTCTCTGTTGCCCACAGGTG	0.557000													28	66					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38883066	38883066	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:38883066G>A	ENST00000359357.3	+	66	9656	c.9402G>A	c.(9400-9402)gtG>gtA	p.V3134V	DNAH8_ENST00000441566.1_Silent_p.V3098V|DNAH8_ENST00000449981.2_Silent_p.V3351V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAAATTGTGGATGAAATTG	0.423000													18	18					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913051	29913051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:29913051G>C	ENST00000490103.1	-	17	1770	c.1648C>G	c.(1648-1650)Ctc>Gtc	p.L550V	THOC5_ENST00000397871.1_Missense_Mutation_p.L550V|THOC5_ENST00000397872.1_Missense_Mutation_p.L550V|THOC5_ENST00000397873.2_Missense_Mutation_p.L550V|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	550					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGTAGAGATTGGTGTCC	0.537000													44	111					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67109286	67109286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:67109286A>T	ENST00000371037.4	+	7	420	c.343A>T	c.(343-345)Aag>Tag	p.K115*	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Nonsense_Mutation_p.K119*|SGIP1_ENST00000371039.1_Nonsense_Mutation_p.K91*|SGIP1_ENST00000371035.3_Nonsense_Mutation_p.K72*|SGIP1_ENST00000371036.3_Nonsense_Mutation_p.K90*	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	115					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGAATCACATAAGAAATTTAA	0.338000													28	49					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99962928	99962928	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:99962928G>A	ENST00000297565.4	+	3	1197	c.701G>A	c.(700-702)gGg>gAg	p.G234E	OSR2_ENST00000522510.1_Missense_Mutation_p.G234E|OSR2_ENST00000435298.2_Missense_Mutation_p.G234E|OSR2_ENST00000457907.2_Missense_Mutation_p.G355E|OSR2_ENST00000523368.1_Missense_Mutation_p.G234E	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	234					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CAGGAGTGTGGGAAAGGATTT	0.363000													7	18					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149435631	149435631	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:149435631C>T	ENST00000286301.3	-	19	2803	c.2512G>A	c.(2512-2514)Gtc>Atc	p.V838I		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	838	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGGACCAGACGTCGCTCTGA	0.607000													12	14					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42558534	42558534	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:42558534G>C	ENST00000262895.3	-	8	993	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V	GRIK5_ENST00000593562.1_Missense_Mutation_p.L332V|GRIK5_ENST00000301218.4_Missense_Mutation_p.L332V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	332						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTACAGGCCAGAGGCTTCACA	0.647000													25	34					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069200	29069200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:29069200C>T	ENST00000373812.3	+	4	780	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.Q140*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.Q90*	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	140					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAACAGTTCTCAGGGACAGTC	0.463000													38	51					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514572	149514572	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:149514572G>C	ENST00000261799.4	-	4	841	c.372C>G	c.(370-372)acC>acG	p.T124T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	124					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGCCCACGGTGGGATCTG	0.527000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								15	20					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41095025	41095025	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:41095025G>A	ENST00000372684.3	-	6	961	c.492C>T	c.(490-492)atC>atT	p.I164I	RIMS3_ENST00000372683.1_Silent_p.I164I	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	164	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCGGTCCATGATGGCAATGT	0.587000													26	34					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158919734	158919734	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:158919734C>T	ENST00000367097.3	+	12	3261	c.1904C>T	c.(1903-1905)cCg>cTg	p.P635L	TULP4_ENST00000367094.2_Missense_Mutation_p.P635L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	635					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CATCTCCAGCCGCGGCAGATG	0.438000													31	46					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241314	66241314	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:66241314C>T	ENST00000349459.6	+	6	970	c.686C>T	c.(685-687)cCg>cTg	p.P229L	PELI3_ENST00000320740.7_Missense_Mutation_p.P253L|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.P253L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	253						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GACTCAGCCCCGGGTGTCTGG	0.652000													9	30					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26935120	26935120	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:26935120G>A	ENST00000397292.3	-	2	651	c.234C>T	c.(232-234)gaC>gaT	p.D78D	PLAA_ENST00000520884.1_Silent_p.D78D	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	78					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAGGGTAGATGTCACTTGAGG	0.418000													33	54					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89198394	89198394	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:89198394C>T	ENST00000608933.1	-	3	831	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PPM1K_ENST00000514204.1_Splice_Site_p.D148N|PPM1K_ENST00000315194.4_Splice_Site_p.D148N|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000295908.7_Splice_Site_p.D148N|PPM1K_ENST00000508256.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGAAGCAAATCCCTTTGTGGG	0.433000													23	29					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49181508	49181508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:49181508G>C	ENST00000371621.3	+	3	331	c.157G>C	c.(157-159)Gac>Cac	p.D53H	PTPN1_ENST00000541713.1_5'UTR	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	53	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	TCTTTCAGTTGACCATAGTCG	0.408000													21	38					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228400344	228400344	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:228400344A>G	ENST00000570156.2	+	2	934	c.860A>G	c.(859-861)tAc>tGc	p.Y287C	OBSCN_ENST00000422127.1_Missense_Mutation_p.Y287C|OBSCN_ENST00000284548.11_Missense_Mutation_p.Y287C|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	287	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACGTGGTGTACGAGGACGCG	0.672000													44	53					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920500	46920500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:46920500C>G	ENST00000378623.1	-	6	873	c.631G>C	c.(631-633)Gat>Cat	p.D211H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	211	LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGTCGCCATCGCAGTGGTAG	0.622000													13	12					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069470	114069470	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:114069470G>A	ENST00000462705.1	-	11	2057	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	ZBTB20_ENST00000464560.1_Silent_p.S412S|ZBTB20_ENST00000471418.1_Silent_p.S412S|ZBTB20_ENST00000481632.1_Silent_p.S412S|ZBTB20_ENST00000357258.3_Silent_p.S412S|ZBTB20_ENST00000393785.2_Silent_p.S412S|ZBTB20_ENST00000474710.1_Silent_p.S485S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTCAGGTTGCTGGTGAGGG	0.592000													27	38					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227275	99227275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:99227275C>T	ENST00000394152.2	+	8	1594	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R351C|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R423C	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GGTGCACCAGCGCAGCCACAC	0.632000													10	28					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26505801	26505801	+	Missense_Mutation	SNP	G	G	T	rs148577863		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:26505801G>T	ENST00000376261.3	+	1	566	c.63G>T	c.(61-63)gaG>gaT	p.E21D	GAD2_ENST00000259271.3_Missense_Mutation_p.E21D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	21					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGGATTCCGAGAATCCCGGCA	0.607000													16	32					4.14922e-12	4.63467e-12	1	1	0
UBAP2L	9898	broad.mit.edu	37	1	154233415	154233415	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:154233415G>T	ENST00000428931.1	+	23	2793	c.2626G>T	c.(2626-2628)Gcc>Tcc	p.A876S	UBAP2L_ENST00000343815.6_Missense_Mutation_p.A876S|UBAP2L_ENST00000361546.2_Missense_Mutation_p.A876S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A887S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	876					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCAGCCCCGGCCACAACCTT	0.577000													16	38					1.67942e-08	1.81191e-08	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37177331	37177331	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:37177331G>A	ENST00000262879.6	+	20	3186		c.e20-1		RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTTATTCTAGATGATTTTTT	0.378000													16	19					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35002683	35002683	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:35002683A>T	ENST00000250454.3	-	3	400	c.319T>A	c.(319-321)Ttt>Att	p.F107I		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	107					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCAGAATCAAAATATATATCA	0.338000													25	44					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323765	9323765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:9323765G>T	ENST00000377403.2	+	5	1515	c.1213G>T	c.(1213-1215)Ggc>Tgc	p.G405C	H6PD_ENST00000602477.1_Missense_Mutation_p.G416C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	405	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CATCGGCCATGGCGACCTGGG	0.662000													18	28					1.67942e-08	1.81191e-08	1	1	0
CDH19	28513	broad.mit.edu	37	18	64221673	64221673	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:64221673G>T	ENST00000262150.2	-	4	871	c.579C>A	c.(577-579)ggC>ggA	p.G193G	CDH19_ENST00000540086.1_Silent_p.G193G	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AATATGGCTGGCCTTGAAGTA	0.383000													47	33					2.64894e-19	3.12439e-19	1	1	0
DSG3	1830	broad.mit.edu	37	18	29049264	29049264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:29049264G>C	ENST00000257189.4	+	12	1932	c.1849G>C	c.(1849-1851)Ggg>Cgg	p.G617R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	617					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGAGGCTGGGGCCTGCCGC	0.572000													35	40					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950782	26950782	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:26950782C>A	ENST00000302909.3	+	2	656	c.531C>A	c.(529-531)gcC>gcA	p.A177A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	177					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGCCGCCGCCTTCTCCCACT	0.627000													22	28					3.5997e-14	4.08396e-14	1	1	0
SHPK	23729	broad.mit.edu	37	17	3514247	3514247	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:3514247G>A	ENST00000225519.3	-	7	1146	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	348					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AATACACAGTGGATTCTTCAA	0.577000													19	25					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114176781	114176781	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:114176781G>T	ENST00000393081.1	+	13	1525		c.e13+1		ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Splice_Site	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AAAGATCCAGGTAGGTTGGGC	0.473000													11	33					4.36969e-10	4.79623e-10	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47534324	47534324	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:47534324C>A	ENST00000334194.3	+	2	211	c.208C>A	c.(208-210)Cat>Aat	p.H70N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	70						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAGGTGTATCATAAGCTGAT	0.463000													49	75					3.10996e-30	3.84753e-30	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	43996028	43996028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:43996028C>T	ENST00000262726.7	-	23	3050	c.2797G>A	c.(2797-2799)Ggt>Agt	p.G933S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G781S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	933					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)				GTAAAATGACCCATGAAGTTG	0.478000													85	228					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66063389	66063389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:66063389G>A	ENST00000503581.1	-	9	1958	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	EYS_ENST00000370618.3_Missense_Mutation_p.P474L|EYS_ENST00000370616.2_Missense_Mutation_p.P474L|EYS_ENST00000342421.5_Missense_Mutation_p.P474L|EYS_ENST00000370621.3_Missense_Mutation_p.P474L|EYS_ENST00000393380.2_Missense_Mutation_p.P474L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	474					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATTGAGCAGGACCTTTATC	0.348000													33	37					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614344	148614344	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:148614344C>T	ENST00000296046.3	+	11	1156	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	368					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGGCTTATGACCTGGGCATCA	0.398000													62	84					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97272445	97272445	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:97272445G>T	ENST00000609116.1	+	11	1184	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.V384L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V373L|PTBP2_ENST00000370198.1_Missense_Mutation_p.V373L|PTBP2_ENST00000426398.2_Missense_Mutation_p.V368L|PTBP2_ENST00000541987.1_Silent_p.V325V			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTGCAGCGTGTGAAGATTTT	0.348000													35	56					8.69298e-16	9.92923e-16	1	1	0
CD5	921	broad.mit.edu	37	11	60886392	60886392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:60886392C>T	ENST00000347785.3	+	4	572	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	136					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGCAGAACCCCAGAAGACAAC	0.612000													5	7					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664978	41664978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:41664978G>A	ENST00000313860.7	+	15	2167	c.2113G>A	c.(2113-2115)Gtg>Atg	p.V705M	LIMCH1_ENST00000381753.4_Missense_Mutation_p.V539M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.V539M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.V534M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.V705M|LIMCH1_ENST00000512820.1_Missense_Mutation_p.V693M|LIMCH1_ENST00000514096.1_Missense_Mutation_p.V546M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.V546M|LIMCH1_ENST00000503057.1_Missense_Mutation_p.V1090M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.V551M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.V705M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.V705M	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	705					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAGTGGAAAGGTGGAGTTGGT	0.488000													8	17					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17339073	17339073	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:17339073G>A	ENST00000262545.2	+	3	699	c.384G>A	c.(382-384)aaG>aaA	p.K128K	PCSK2_ENST00000536609.1_Silent_p.K93K|PCSK2_ENST00000377899.1_Silent_p.K109K	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	128	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTTACAAAGCAGTGGTATC	0.398000													14	26					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751788	46751788	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:46751788G>A	ENST00000343304.6	-	4	1026	c.741C>T	c.(739-741)ctC>ctT	p.L247L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	247										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACTCATGGTGAGAATAAGGA	0.607000													17	25					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93299599	93299599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:93299599C>T	ENST00000163416.2	+	10	2108	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.Q618*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	618					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCTGGTCTTTCAACTGGAGCG	0.458000			T	RET	papillary thyroid								47	62					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117198	163117198	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:163117198G>A	ENST00000313961.5	-	5	757	c.480C>T	c.(478-480)gcC>gcT	p.A160A	RGS5_ENST00000527988.1_Silent_p.A52A|RGS5_ENST00000530507.1_Silent_p.A164A|RGS5_ENST00000367903.3_Silent_p.A180A	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	160	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TTTCCATCAGGGCATGGATTC	0.448000													28	45					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56533779	56533779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:56533779G>C	ENST00000245157.5	-	12	1858	c.1438C>G	c.(1438-1440)Cga>Gga	p.R480G	BBS2_ENST00000568104.1_Missense_Mutation_p.R480G	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	480					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATGGAGAATCGAGGGAGCTGT	0.443000									Bardet-Biedl syndrome				46	75					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436152	16436152	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:16436152C>T	ENST00000380672.4	-	6	2097	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	BNC2_ENST00000380666.2_Silent_p.E680E|BNC2_ENST00000380667.2_Silent_p.E613E|BNC2_ENST00000545497.1_Silent_p.E585E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGCTCATCTCCTCTTGGGAGT	0.483000													29	9					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689787	33689787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:33689787C>T	ENST00000394566.1	-	4	1312	c.1040G>A	c.(1039-1041)tGg>tAg	p.W347*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W347*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	347						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCCTACCCATTTCTCGGT	0.478000													35	57					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783887	140783887	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140783887C>T	ENST00000573521.1	+	1	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAAGCCTCCTACTCAGTCT	0.473000													8	21					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33736466	33736466	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:33736466G>A	ENST00000358232.6	+	13	1376	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	ELP2_ENST00000423854.2_Missense_Mutation_p.G368E|ELP2_ENST00000351393.6_Missense_Mutation_p.G412E|ELP2_ENST00000350494.6_Missense_Mutation_p.G433E|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Missense_Mutation_p.G368E|ELP2_ENST00000442325.2_Missense_Mutation_p.G503E	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	438					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CAGATACATGGGTATGACCTG	0.373000													58	56					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702088	40702088	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:40702088C>G	ENST00000372771.4	+	8	1741	c.1714C>G	c.(1714-1716)Cat>Gat	p.H572D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	572					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AATTCTTCATCATTCTAAGAT	0.348000													37	72					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863245	64863245	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:64863245G>C	ENST00000313349.3	-	2	1058	c.761C>G	c.(760-762)tCc>tGc	p.S254C		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	254					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCATACATGGACGTATCAAT	0.507000													22	60					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507500	219507500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:219507500G>A	ENST00000411696.2	-	7	4518	c.3739C>T	c.(3739-3741)Cgg>Tgg	p.R1247W	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1247W			P52746	ZN142_HUMAN	zinc finger protein 142	1247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCCTTAACCGGTGCAAGCGC	0.547000													48	11					0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24677229	24677229	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:24677229C>A	ENST00000339917.5	+	4	1098	c.894C>A	c.(892-894)atC>atA	p.I298I	TSSK4_ENST00000287913.6_Silent_p.I288I|TSSK4_ENST00000428351.2_Silent_p.I95I|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Silent_p.I212I|TM9SF1_ENST00000556387.1_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	288					cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGACATCATCAAGGATTCCT	0.547000													14	35					4.14922e-12	4.63467e-12	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116196043	116196043	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:116196043C>G	ENST00000533213.2	-	23	2434	c.2133G>C	c.(2131-2133)atG>atC	p.M711I	ABLIM1_ENST00000369252.4_Missense_Mutation_p.M711I|ABLIM1_ENST00000369266.3_Missense_Mutation_p.M448I|ABLIM1_ENST00000392952.3_Missense_Mutation_p.M448I|ABLIM1_ENST00000369253.2_Missense_Mutation_p.M394I|ABLIM1_ENST00000277895.5_Missense_Mutation_p.M771I			O14639	ABLM1_HUMAN	actin binding LIM protein 1	771	HP.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTTTTTCTTCATGTCGTTGC	0.473000													31	47					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107424681	107424681	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:107424681G>C	ENST00000428149.2	-	4	542	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	ALKBH8_ENST00000389568.3_Missense_Mutation_p.Q131E|ALKBH8_ENST00000417449.2_Missense_Mutation_p.Q134E|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Missense_Mutation_p.Q131E	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	131					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GGTAAGGCTTGAGGCCTCAAC	0.378000													22	20					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28749957	28749957	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:28749957C>T	ENST00000225719.4	+	5	1649	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	CPD_ENST00000543464.2_Missense_Mutation_p.R278W	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	525	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAACATTACCCGGCTTTATTC	0.423000													38	58					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884083	19884083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:19884083C>T	ENST00000300571.2	-	2	276	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GPRC5B_ENST00000535671.1_Missense_Mutation_p.E29K|GPRC5B_ENST00000569479.1_Missense_Mutation_p.E29K|GPRC5B_ENST00000537135.1_Missense_Mutation_p.E55K|GPRC5B_ENST00000569847.1_Missense_Mutation_p.E29K	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	29										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGCGTTTTCAGAGGCCACC	0.582000													14	29					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849907	1849907	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:1849907G>C	ENST00000378602.3	-	1	329	c.89C>G	c.(88-90)cCg>cGg	p.P30R	TMEM52_ENST00000310991.3_Intron			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	0						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTGACCCTCGGCCACCGGGC	0.587000													4	6					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80338777	80338777	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:80338777T>A	ENST00000265080.4	+	2	437	c.370T>A	c.(370-372)Tgg>Agg	p.W124R		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	124	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGGTAAAGAGTGGATGGAGGC	0.473000													3	9					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855670	2855670	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:2855670C>A	ENST00000602557.1	-	55	8798	c.8243G>T	c.(8242-8244)gGa>gTa	p.G2748V	CSMD1_ENST00000520002.1_Missense_Mutation_p.G2748V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2747V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2690V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2690V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2689V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2748	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTAGTGAATCCGTGGGCAGG	0.502000													26	12					1.16021e-09	1.26796e-09	1	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987647	15987647	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:15987647A>T	ENST00000345034.1	+	1	1284	c.1284A>T	c.(1282-1284)aaA>aaT	p.K428N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	428					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGACAGAAAAATTAACAGGTA	0.433000													25	33					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	10					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221053337	221053337	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:221053337C>T	ENST00000366903.6	+	1	1639	c.138C>T	c.(136-138)atC>atT	p.I46I	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	46					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I46I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCTTCTGCATCGCAGACATTC	0.721000													6	10					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91367076	91367076	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:91367076T>A	ENST00000261991.3	-	10	1297	c.1124A>T	c.(1123-1125)tAt>tTt	p.Y375F	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.Y296F|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.Y375F	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	375	AGC-kinase C-terminal.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACAAAGGAATAGCCCTAAAA	0.368000													15	16					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850646	3850646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:3850646G>A	ENST00000380274.1	+	1	1027	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	FAM50B_ENST00000380272.3_Missense_Mutation_p.V201M			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	201						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGGCGCACGGTGCGGGTGCG	0.677000													27	27					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165504007	165504007	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:165504007C>T	ENST00000264381.3	-	3	1776	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	537					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CGTCATTATTCTTGTTGACTC	0.363000													39	53					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680464	128680464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:128680464C>T	ENST00000527786.2	+	9	1429	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	FLI1_ENST00000344954.6_Missense_Mutation_p.P281S|FLI1_ENST00000534087.2_Missense_Mutation_p.P281S|FLI1_ENST00000525560.1_Missense_Mutation_p.P121S|FLI1_ENST00000281428.8_Missense_Mutation_p.P248S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGACGGACCCCGATGAGGT	0.572000			T	EWSR1	Ewing sarcoma								6	10					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633486	70633486	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:70633486C>G	ENST00000381269.2	-	2	2407	c.1654G>C	c.(1654-1656)Gtt>Ctt	p.V552L	SLC8A3_ENST00000528359.1_Missense_Mutation_p.V552L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V552L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V552L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V552L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	552	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCCGCAGAACCTTGACCTCC	0.498000													16	37					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64970530	64970530	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:64970530C>T	ENST00000326648.3	+	5	3746	c.3618C>T	c.(3616-3618)ccC>ccT	p.P1206P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1206						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAAGGAGCCCCGGCCAAGTG	0.577000													28	47					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807300	22807300	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:22807300C>A	ENST00000361524.3	-	4	730	c.582G>T	c.(580-582)aaG>aaT	p.K194N	ZNF521_ENST00000538137.2_Missense_Mutation_p.K194N|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	194					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACGTGTGAGTCTTTAAGTGGA	0.473000			T	PAX5	ALL								40	38					7.53189e-24	9.11756e-24	1	1	0
JUP	3728	broad.mit.edu	37	17	39919298	39919298	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:39919298G>C	ENST00000393931.3	-	8	1552	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.L478L|JUP_ENST00000393930.1_Silent_p.L478L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	478					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCCATAGTTGAGACGCACAG	0.622000													14	37					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40568155	40568155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:40568155G>T	ENST00000455577.2	+	10	2683	c.1771G>T	c.(1771-1773)Gag>Tag	p.E591*	PAK6_ENST00000560346.1_Nonsense_Mutation_p.E636*|PAK6_ENST00000542403.2_Nonsense_Mutation_p.E636*|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Nonsense_Mutation_p.E636*|PAK6_ENST00000260404.4_Nonsense_Mutation_p.E636*|PAK6_ENST00000441369.1_Nonsense_Mutation_p.E636*	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	636	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGACTTCCTGGAGCGGATGCT	0.602000													34	51					6.05902e-23	7.29968e-23	1	1	0
IK	3550	broad.mit.edu	37	5	140041539	140041539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140041539A>T	ENST00000417647.2	+	18	1697	c.1558A>T	c.(1558-1560)Aag>Tag	p.K520*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	520					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGCTTCAAGGAAACCAA	0.483000													6	5					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43559036	43559036	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:43559036A>T	ENST00000220420.5	-	1	18		c.e1+1		TGM5_ENST00000349114.4_Splice_Site	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5						epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCTTTCCCTACCTTGGGCCA	0.557000													23	34					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39603432	39603432	+	Silent	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:39603432A>T	ENST00000352251.3	-	4	1094	c.261T>A	c.(259-261)ctT>ctA	p.L87L	PROSER1_ENST00000350125.3_Silent_p.L65L	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	87																	CTAACAGTTCAAGAGCAACTA	0.308000													26	44					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644242	35644242	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:35644242G>C	ENST00000400445.3	+	9	1971	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	NBEA_ENST00000310336.4_Splice_Site_p.Q479H|NBEA_ENST00000540320.1_Splice_Site_p.Q479H|NBEA_ENST00000379939.2_Splice_Site_p.Q479H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	479						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAATGCTTCAGGTGGGTGAAT	0.363000													8	8					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133646	47133646	+	RNA	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:47133646C>T	ENST00000422732.2	-	0	435					NR_033957.2																						cctccaataccaaagttgtca	0.507000													12	52					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416042	41416042	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr21:41416042C>A	ENST00000400454.1	-	31	5823	c.5346G>T	c.(5344-5346)gaG>gaT	p.E1782D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1782					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTGTCGCTCTCTTTGTCTA	0.637000													22	40					1.96292e-10	2.15921e-10	1	1	0
ACLY	47	broad.mit.edu	37	17	40070030	40070030	+	Missense_Mutation	SNP	G	G	C	rs148951948		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:40070030G>C	ENST00000352035.2	-	2	227	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	ACLY_ENST00000537919.1_Missense_Mutation_p.R33G|ACLY_ENST00000353196.1_Missense_Mutation_p.R33G|ACLY_ENST00000590151.1_Missense_Mutation_p.R33G|ACLY_ENST00000393896.2_Missense_Mutation_p.R33G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	33					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGAGTGACCCGAGCATACTTG	0.577000													50	60					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39997788	39997788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:39997788G>A	ENST00000308666.3	-	5	1561	c.1426C>T	c.(1426-1428)Cac>Tac	p.H476Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	476					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATAATTCCGTGATCCACATCA	0.323000													28	38					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33347433	33347433	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:33347433A>G	ENST00000315596.10	+	34	4465	c.4279A>G	c.(4279-4281)Aca>Gca	p.T1427A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1427					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACAGGAAGAAACAGAGGAGGA	0.388000													31	42					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179605503	179605503	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:179605503T>C	ENST00000467460.1	-	4	598	c.268A>G	c.(268-270)Aaa>Gaa	p.K90E	PEX5L_ENST00000485199.1_Missense_Mutation_p.K55E|PEX5L_ENST00000472994.1_Missense_Mutation_p.K31E|PEX5L_ENST00000392649.3_Missense_Mutation_p.K47E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.K47E|PEX5L_ENST00000263962.8_Missense_Mutation_p.K88E|PEX5L_ENST00000476138.1_Missense_Mutation_p.K47E|PEX5L_ENST00000465751.1_Missense_Mutation_p.K66E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	90					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCGATTTGGTTTCACAG	0.413000													59	100					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544332	89544332	+	RNA	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:89544332G>A	ENST00000468494.1	-	0	321																											CTGATTTTCAGTGTGAAATCA	0.527000													38	115					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814826	40814826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:40814826C>T	ENST00000396617.3	-	12	2206	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	MKL1_ENST00000355630.3_Missense_Mutation_p.R539H|MKL1_ENST00000402042.1_Missense_Mutation_p.R489H|MKL1_ENST00000407029.1_Missense_Mutation_p.R539H	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	539					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCGGAGCATGCGCGTCAGCGC	0.706000			T	RBM15	acute megakaryocytic leukemia								3	19					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255158	70255158	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:70255158C>A	ENST00000342771.4	+	19	3277	c.2956C>A	c.(2956-2958)Cgg>Agg	p.R986R	AUTS2_ENST00000406775.2_Silent_p.R962R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	986										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAGGAGGAGCGGAAGGAAGA	0.701000													4	10					0.00909568	0.0092418	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144944015	144944015	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:144944015G>T	ENST00000525985.1	-	2	3478	c.3407C>A	c.(3406-3408)cCg>cAg	p.P1136Q				P58107	EPIPL_HUMAN	epiplakin 1	1136						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGCCCCCGGCACGGCCTG	0.677000													5	7					0.000602214	0.000616843	1	1	0
WNT2B	7482	broad.mit.edu	37	1	113010166	113010166	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:113010166G>A	ENST00000369686.5	+	1	111	c.7G>A	c.(7-9)Gat>Aat	p.D3N	WNT2B_ENST00000256640.5_De_novo_Start_InFrame	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ccacatgttggatggccttgg	0.338000													25	37					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150707369	150707369	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:150707369C>T	ENST00000297494.3	+	21	3036	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	NOS3_ENST00000461406.1_Silent_p.L687L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	893	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGGAGGCCCTCAGCCAGGTTG	0.652000													14	42					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41543840	41543840	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:41543840G>A	ENST00000263253.7	+	12	3350		c.e12-1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATATTCACAGGTTTGAATCA	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				28	24					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43152495	43152495	+	RNA	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:43152495C>T	ENST00000522175.2	+	0	483							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCAAATCTTCCAGATATGTA	0.383000													37	22					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154287153	154287153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:154287153G>A	ENST00000285873.7	-	16	2468	c.2393C>T	c.(2392-2394)gCg>gTg	p.A798V		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	798					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCACATACCCGCTGGAGCAAG	0.507000													15	15					0	0	1	0	0
AC010731.4	0	broad.mit.edu	37	2	207509344	207509344	+	RNA	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:207509344G>T	ENST00000543490.1	+	0	559																											TCTCAGCAGCGCAGCCACAGC	0.488000													12	5					5.50884e-06	5.80723e-06	1	1	0
ZNF597	146434	broad.mit.edu	37	16	3487085	3487085	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:3487085A>G	ENST00000301744.4	-	4	849	c.614T>C	c.(613-615)aTc>aCc	p.I205T		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ACCAGTATGGATTCTCCTGTG	0.438000													66	100					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077580	7077580	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:7077580C>T	ENST00000535923.1	-	4	752	c.471G>A	c.(469-471)cgG>cgA	p.R157R	PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Silent_p.R157R|PHB2_ENST00000440277.1_Silent_p.R157R|PHB2_ENST00000399433.2_Silent_p.R157R	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	157	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						AGACCTGGGCCCGCTGGGTGA	0.537000													3	7					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30104677	30104677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:30104677G>C	ENST00000380752.5	-	5	1088	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	234					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACTCACTTGTTCAAACAGA	0.423000													69	91					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517847	72517847	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:72517847G>A	ENST00000373208.1	+	20	3076	c.3076G>A	c.(3076-3078)Gga>Aga	p.G1026R	ADAMTS14_ENST00000373207.1_Splice_Site_p.G1023R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1023					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGCCTGTGGAGGTGAGCCAGA	0.612000													3	13					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759059	94759059	+	Missense_Mutation	SNP	A	A	G	rs10752685		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:94759059A>G	ENST00000450979.2	+	1	638	c.338A>G	c.(337-339)cAg>cGg	p.Q113R		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	113			Q -> R (in dbSNP:rs10752685).		chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CCGCCACACCAGAATTTTGCA	0.458000													7	9					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45655298	45655298	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:45655298G>T	ENST00000317951.4	-	4	2396	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	NKPD1_ENST00000438936.2_Silent_p.A577A|NKPD1_ENST00000589776.1_Silent_p.A577A|NKPD1_ENST00000429338.1_Silent_p.A498A	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGCCTTCGCCGGCTTGCCCTG	0.726000													16	14					4.7546e-09	5.15167e-09	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38200613	38200613	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:38200613G>C	ENST00000355202.4	-	3	715	c.120C>G	c.(118-120)gaC>gaG	p.D40E	ZNF607_ENST00000395835.3_Missense_Mutation_p.D40E|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.D40E	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGACTAAGTTGTCATAGTTCT	0.403000													30	22					0	0	1	0	0
PPM1N	147699	broad.mit.edu	37	19	46002284	46002284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:46002284C>T	ENST00000324688.4	+	1	420	c.320C>T	c.(319-321)gCg>gTg	p.A107V	PPM1N_ENST00000451287.2_Missense_Mutation_p.A185V|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	185	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GACTCCCGCGCGGTGCTGAGC	0.731000													3	9					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459791	142459791	+	Missense_Mutation	SNP	G	G	A	rs144403091		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:142459791G>A	ENST00000486171.1	+	4	426	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	PRSS1_ENST00000311737.7_Missense_Mutation_p.V123M			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	123	Peptidase S1.		T -> M (in a colorectal cancer sample; somatic mutation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CAACGCCCGCGTGTCCACCAT	0.587000													70	43					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24042692	24042692	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:24042692G>T	ENST00000238789.5	-	17	2535	c.2192C>A	c.(2191-2193)aCc>aAc	p.T731N	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	731							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGACAATTGGTCTCAAAAAT	0.308000													9	13					3.09899e-07	3.2943e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9084267	9084267	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:9084267G>T	ENST00000397910.4	-	1	7751	c.7548C>A	c.(7546-7548)gcC>gcA	p.A2516A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2516	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAAGCCCATGGCAGGTAAGT	0.517000													11	28					1.58986e-06	1.68652e-06	1	1	0
MYH15	22989	broad.mit.edu	37	3	108175710	108175710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:108175710C>T	ENST00000273353.3	-	20	2157	c.2101G>A	c.(2101-2103)Gtt>Att	p.V701I	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	701	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGCTGTAGAACCAAGTAAGGG	0.413000													43	75					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111071200	111071200	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:111071200T>G	ENST00000379671.3	-	4	272	c.8A>C	c.(7-9)tAt>tCt	p.Y3S	NREP_ENST00000509427.1_Missense_Mutation_p.Y3S|NREP_ENST00000450761.2_Missense_Mutation_p.Y3S|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509025.1_Missense_Mutation_p.Y3S|NREP_ENST00000446294.2_Missense_Mutation_p.Y3S|NREP_ENST00000447165.2_Missense_Mutation_p.Y3S|NREP_ENST00000509979.1_Missense_Mutation_p.Y3S|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000419114.2_Missense_Mutation_p.Y3S|NREP_ENST00000515855.1_Missense_Mutation_p.Y3S|NREP_ENST00000257435.7_Missense_Mutation_p.Y3S|NREP_ENST00000508870.1_Missense_Mutation_p.Y3S|NREP_ENST00000395634.3_Missense_Mutation_p.Y47S|NREP_ENST00000455559.2_Missense_Mutation_p.Y3S|NREP_ENST00000453526.2_Missense_Mutation_p.Y3S	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	3						cytoplasm											TTCTGGGTAATAAACCTATAG	0.403000													38	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56350149	56350149	+	Silent	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:56350149T>G	ENST00000370754.5	-	88	21074	c.21075A>C	c.(21073-21075)ggA>ggC	p.G7025G	DST_ENST00000370769.4_Silent_p.G6847G|DST_ENST00000361203.3_Silent_p.G6736G|DST_ENST00000244364.6_Silent_p.G4433G|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.G6521G|DST_ENST00000370788.2_Silent_p.G4650G|DST_ENST00000421834.2_Silent_p.G4759G			Q03001	DYST_HUMAN	dystonin	6845					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATCAATGTCTCCATGAACAG	0.393000													23	29					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76132904	76132904	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:76132904G>A	ENST00000324432.5	+	10	2061	c.1551G>A	c.(1549-1551)caG>caA	p.Q517Q	DTX2_ENST00000430490.2_Splice_Site_p.Q517Q|DTX2_ENST00000307569.8_Splice_Site_p.Q470Q|DTX2_ENST00000446600.1_Splice_Site_p.Q426Q|DTX2_ENST00000446820.2_Splice_Site_p.Q470Q|DTX2_ENST00000413936.2_Splice_Site_p.Q517Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	517					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ATGGTATCCAGGTGAGGGGCC	0.607000													15	11					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3739139	3739139	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:3739139C>T	ENST00000246957.5	-	3	336		c.e3-1		TRAP1_ENST00000538171.1_Splice_Site	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1						cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAAGTGGAACCTAGTAATGAA	0.413000													15	22					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49230416	49230416	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:49230416C>A	ENST00000308025.3	-	10	1251	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	391						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTTCCAGGATCGGATGGGATT	0.502000													44	62					5.78141e-17	6.66377e-17	1	1	0
DZANK1	55184	broad.mit.edu	37	20	18440834	18440834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:18440834C>T	ENST00000262547.5	-	3	434	c.226G>A	c.(226-228)Gat>Aat	p.D76N	DZANK1_ENST00000358866.6_Missense_Mutation_p.D76N|DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.D76N	NM_001099407.1	NP_001092877.1	Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	432						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATTTTTCCATCAGGCAGAGTA	0.279000													10	8					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128982798	128982798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:128982798C>T	ENST00000314797.6	+	13	1284	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	394					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TCCTCGCAAACACGCCGTCCT	0.562000													23	53					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416268	121416268	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:121416268G>A	ENST00000393667.3	-	13	3212	c.3102C>T	c.(3100-3102)ctC>ctT	p.L1034L	GOLGB1_ENST00000340645.5_Silent_p.L1029L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1029					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAGTCTCACTGAGTGGGATTT	0.358000													41	54					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55462393	55462393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:55462393C>A	ENST00000360586.3	-	11	1146	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.E238*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.E238*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	361						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGAGGTCTTCATCATCCTCA	0.383000													26	43					3.73988e-18	4.36032e-18	1	1	0
LCE1E	353135	broad.mit.edu	37	1	152760045	152760045	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:152760045C>T	ENST00000368770.3	+	2	323	c.270C>T	c.(268-270)ccC>ccT	p.P90P	LCE1E_ENST00000368771.1_Silent_p.P90P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	90	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCACAGACCCCAGAGCTCTG	0.687000													36	45					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31484798	31484798	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:31484798A>C	ENST00000394863.3	+	2	180	c.50A>C	c.(49-51)cAc>cCc	p.H17P	TGFB1I1_ENST00000394858.2_5'UTR|TGFB1I1_ENST00000361773.3_5'UTR|TGFB1I1_ENST00000567607.1_5'UTR	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	17	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						ACCACCTCGCACATGCCAAGG	0.602000													9	26					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370420	25370420	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:25370420C>T	ENST00000255324.5	+	11	1438	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D	RNF17_ENST00000255325.6_Silent_p.D462D|RNF17_ENST00000381921.1_Silent_p.D462D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	462					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCCTTCAGACATTTTGGAAC	0.303000													34	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584713	179584713	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:179584713G>A	ENST00000589042.1	-	81	23880	c.23656C>T	c.(23656-23658)Cta>Tta	p.L7886L	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L7569L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L6642L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7569	Ig-like 61.						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)			TACTAACCTAGTACAGTCAAG	0.393000													10	9					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368613	20368613	+	RNA	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:20368613G>A	ENST00000593655.1	-	0	199																											CAACTTTCCAGAACACATCTT	0.468000													21	38					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433676	107433676	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:107433676C>A	ENST00000334504.7	-	20	1605	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	COL4A6_ENST00000538570.1_Missense_Mutation_p.G458C|COL4A6_ENST00000372216.4_Missense_Mutation_p.G459C|COL4A6_ENST00000545689.1_Missense_Mutation_p.G458C|COL4A6_ENST00000394872.2_Missense_Mutation_p.G459C	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	459	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTCGGAGACCAGGGAACCCT	0.423000									Alport syndrome with Diffuse Leiomyomatosis				51	8					1.4709e-25	1.80212e-25	1	1	0
MYO6	4646	broad.mit.edu	37	6	76572378	76572378	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:76572378C>A	ENST00000369981.3	+	16	1891	c.1612C>A	c.(1612-1614)Cca>Aca	p.P538T	MYO6_ENST00000369977.3_Missense_Mutation_p.P538T|MYO6_ENST00000369975.1_Missense_Mutation_p.P538T|MYO6_ENST00000369985.4_Missense_Mutation_p.P538T			Q9UM54	MYO6_HUMAN	myosin VI	538	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCTTCCCCAGCCAAGTGATCA	0.373000													25	25					8.24728e-16	9.44146e-16	1	1	0
FNBP1L	54874	broad.mit.edu	37	1	94016644	94016644	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:94016644C>G	ENST00000260506.8	+	14	1769	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	FNBP1L_ENST00000271234.7_Missense_Mutation_p.L598V|FNBP1L_ENST00000370253.2_Missense_Mutation_p.L540V|FNBP1L_ENST00000370256.4_Missense_Mutation_p.L593V|FNBP1L_ENST00000604705.1_Missense_Mutation_p.L598V	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	598	Interaction with DNM1.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGATGTAACTCTAGAGAAAAA	0.413000													7	11					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98951613	98951613	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:98951613G>A	ENST00000432884.2	+	8	902	c.441G>A	c.(439-441)ctG>ctA	p.L147L	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Silent_p.L194L			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	194					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TTGGGCAGCTGATGTCAGAGT	0.582000													44	78					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51694089	51694089	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:51694089A>G	ENST00000409535.2	+	21	3489	c.3364A>G	c.(3364-3366)Act>Gct	p.T1122A	RAD54L2_ENST00000296477.3_Missense_Mutation_p.T816A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTCCGGGCAACTGGCAAACC	0.448000													10	4					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051490	110051490	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:110051490C>T	ENST00000369864.4	-	2	394	c.45G>A	c.(43-45)ccG>ccA	p.P15P	AMIGO1_ENST00000369862.1_Silent_p.P15P			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	15					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGGACAAGGACGGCAGCAGGA	0.637000													7	6					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411302	43411302	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:43411302G>C	ENST00000187910.2	-	5	1077	c.1012C>G	c.(1012-1014)Cct>Gct	p.P338A	PSG6_ENST00000402603.4_Missense_Mutation_p.P245A|PSG6_ENST00000292125.2_Missense_Mutation_p.P338A	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTGAATGAAGGGTAAATTCTG	0.483000													72	105					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	764330	764330	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:764330C>G	ENST00000319006.3	+	7	1031	c.878C>G	c.(877-879)tCt>tGt	p.S293C	TALDO1_ENST00000528097.1_Missense_Mutation_p.L292V			P37837	TALDO_HUMAN	transaldolase 1	293					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GATGAGAAGTCTTTCCGTTGG	0.582000													18	34					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183247	39183247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:39183247C>T	ENST00000361883.5	-	1	207	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	54	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGCAGGTCCCACTGGTTGA	0.632000													25	47					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949291	32949291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:32949291C>T	ENST00000306346.1	-	4	1027	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	ZNF396_ENST00000589332.1_Missense_Mutation_p.R299Q	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	299					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTATGGGTTCGTCGATGCTG	0.423000													39	49					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432151	6432151	+	Missense_Mutation	SNP	G	G	T	rs377171		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:6432151G>T	ENST00000321510.6	-	2	340	c.272C>A	c.(271-273)gCc>gAc	p.A91D		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	91					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CTTCCACAAGGCCTCCTTGTT	0.607000													19	23					2.94398e-08	3.16948e-08	1	1	0
PADI2	11240	broad.mit.edu	37	1	17420158	17420158	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:17420158C>T	ENST00000375486.4	-	5	496	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PADI2_ENST00000375481.1_Missense_Mutation_p.E145K|PADI2_ENST00000444885.2_Intron	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	145					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCCTGGCCCTCGGGGCCCCAG	0.597000													17	32					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3031553	3031553	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:3031553C>A	ENST00000448120.2	+	4	430	c.379C>A	c.(379-381)Cgt>Agt	p.R127S	TULP3_ENST00000397132.2_Missense_Mutation_p.R127S	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	127					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACTTCAGGAGCGTCTCCAAAA	0.428000													6	75					0.0215528	0.0217679	1	1	0
OMG	4974	broad.mit.edu	37	17	29622443	29622443	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:29622443T>G	ENST00000247271.4	-	2	1168	c.907A>C	c.(907-909)Ata>Cta	p.I303L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	303					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TGTTTGGGTATTTTGGTCACT	0.433000													55	61					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74527619	74527619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:74527619C>T	ENST00000293230.5	-	2	660	c.298G>A	c.(298-300)Gac>Aac	p.D100N	CYGB_ENST00000590175.1_Missense_Mutation_p.D35N|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.D35N|CYGB_ENST00000589342.1_Missense_Mutation_p.D100N	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	100	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						GACACCTTGTCGGGGTCATGC	0.637000													20	30					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451890	22451890	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:22451890C>A	ENST00000325870.2	+	2	1720	c.1495C>A	c.(1495-1497)Cca>Aca	p.P499T		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GTACTTCAGACCAAATCAGGA	0.413000													56	11					3.89483e-19	4.58322e-19	1	1	0
SLAMF1	6504	broad.mit.edu	37	1	160593911	160593911	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:160593911C>T	ENST00000302035.6	-	4	1114	c.765G>A	c.(763-765)gtG>gtA	p.V255V	SLAMF1_ENST00000538290.1_Silent_p.V255V|SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000355199.3_Silent_p.V255V	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	255					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTAGTATTACCACCATGATGA	0.438000													63	99					0	0	1	0	0
SETD8	387893	broad.mit.edu	37	12	123892237	123892237	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:123892237G>T	ENST00000402868.3	+	8	1472	c.1046G>T	c.(1045-1047)tGg>tTg	p.W349L	SETD8_ENST00000330479.4_Missense_Mutation_p.W349L			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	390	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GCCCACCCGTGGCTGAAGCAT	0.567000													6	9					1	1	1	1	0
KLF13	51621	broad.mit.edu	37	15	31619950	31619950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:31619950G>C	ENST00000307145.3	+	1	893	c.535G>C	c.(535-537)Ggg>Cgg	p.G179R		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	179					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAAAGTTTACGGGAAATCTTC	0.692000													4	4					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	37					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76391402	76391402	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:76391402G>A	ENST00000357063.3	+	13	3468	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	LMO7_ENST00000377534.3_Silent_p.Q736Q|LMO7_ENST00000341547.4_Silent_p.Q402Q|LMO7_ENST00000526202.1_Silent_p.Q301Q|LMO7_ENST00000321797.8_Silent_p.Q451Q|LMO7_ENST00000465261.2_Silent_p.Q451Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	736						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAAGATCAGAAATGGCAGG	0.388000													34	68					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54185805	54185805	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:54185805A>G	ENST00000375180.2	-	2	1000	c.944T>C	c.(943-945)cTa>cCa	p.L315P	FAM120C_ENST00000328235.4_Missense_Mutation_p.L315P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	315										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGACCTACCTAGCAGTGCAGC	0.448000													19	2					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300057	21300057	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:21300057G>A	ENST00000596143.1	+	5	912	c.587G>A	c.(586-588)gGa>gAa	p.G196E	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTTCATACTGGAGAGAAACCC	0.378000													45	58					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515879	195515879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:195515879G>T	ENST00000463781.3	-	2	3031	c.2572C>A	c.(2572-2574)Cca>Aca	p.P858T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P858T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	863	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCTTACTGGGATGGCACCA	0.577000													16	22					1.5739e-10	1.74265e-10	1	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148747747	148747747	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:148747747G>T	ENST00000514349.1	+	5	1324	c.745G>T	c.(745-747)Ggc>Tgc	p.G249C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G339C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	339					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGTCCACGGCTACCTCAA	0.552000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	68					1.78197e-24	2.16749e-24	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8654980	8654980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:8654980C>T	ENST00000276282.6	-	2	3606	c.3020G>A	c.(3019-3021)aGa>aAa	p.R1007K	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1007										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTTCCGGTCTGGGCTGACT	0.537000													13	6					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616244	140616244	+	RNA	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140616244C>G	ENST00000526308.1	+	0	2307					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCTCGGTGTTCCTGTTCGTGG	0.672000													35	82					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547908	63547908	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:63547908G>C	ENST00000397968.2	+	12	2562	c.2136G>C	c.(2134-2136)tgG>tgC	p.W712C	CDH7_ENST00000323011.3_Missense_Mutation_p.W712C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATTTATTTGGGAAAGATTAA	0.433000													59	60					0	0	1	0	0
C9orf72	203228	broad.mit.edu	37	9	27567010	27567010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:27567010G>A	ENST00000380003.3	-	2	172	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	C9orf72_ENST00000379997.3_Missense_Mutation_p.L37F|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	37										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTAGGACCAAGAATATTGTCC	0.438000													32	56					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995414	140995414	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:140995414A>T	ENST00000285879.4	+	4	2510	c.2224A>T	c.(2224-2226)Agt>Tgt	p.S742C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	742							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCTCCAGAGTCCTGTGAG	0.557000										HNSCC(15;0.026)			63	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468741	179468741	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:179468741C>G	ENST00000589042.1	-	282	54897	c.54673G>C	c.(54673-54675)Gga>Cga	p.G18225R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9160R|TTN_ENST00000591111.1_Missense_Mutation_p.G16584R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9352R|TTN_ENST00000359218.5_Missense_Mutation_p.G9285R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15657R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16584	Ig-like 105.						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)			CCTTTCAATCCCACTTTGGTT	0.473000													86	37					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800937	21800937	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:21800937G>T	ENST00000443632.2	+	2	2125	c.1753G>T	c.(1753-1755)Ggc>Tgc	p.G585C	HIC2_ENST00000407464.2_Missense_Mutation_p.G585C|HIC2_ENST00000407598.2_Missense_Mutation_p.G585C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	585					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGCACTCGGGCGAGAAACC	0.642000													21	42					9.86323e-18	1.14468e-17	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81134814	81134814	+	RNA	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:81134814C>T	ENST00000533478.1	-	0	5348				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGCTCCTCTCTCTTAGAC	0.532000													14	24					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144247	31144247	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:31144247G>A	ENST00000543491.1	+	3	3544	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTGTTGATGAACGAGGAAG	0.537000													42	68					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151927082	151927082	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:151927082G>T	ENST00000355193.2	-	18	3120	c.2902C>A	c.(2902-2904)Caa>Aaa	p.Q968K	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q968K					lysine (K)-specific methyltransferase 2C																		TCTGCTCCTTGGCCAAAACTG	0.348000													30	318					1.61004e-24	1.96308e-24	1	1	0
TTC3	7267	broad.mit.edu	37	21	38520855	38520855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr21:38520855C>T	ENST00000399017.2	+	23	4773	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	TTC3_ENST00000540756.1_Missense_Mutation_p.R366C|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R676C|TTC3_ENST00000354749.2_Missense_Mutation_p.R676C	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	676					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGGTTTTATACGCATCAGCTG	0.328000													29	40					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39290401	39290401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:39290401C>T	ENST00000381897.1	-	25	3560	c.3427G>A	c.(3427-3429)Gga>Aga	p.G1143R	RFC1_ENST00000349703.2_Missense_Mutation_p.G1142R	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1143					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAACTTTTTCCTTTTCCTTTT	0.383000													28	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131351141	131351141	+	Silent	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:131351141C>G	ENST00000358161.5	+	21	3038	c.2925C>G	c.(2923-2925)ctC>ctG	p.L975L	SPTAN1_ENST00000372731.4_Silent_p.L975L|SPTAN1_ENST00000372739.3_Silent_p.L975L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	975	SH3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCTTGGCTCTCTACGACTATC	0.517000													23	11					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6622662	6622662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:6622662G>C	ENST00000254605.6	-	3	751	c.634C>G	c.(634-636)Cca>Gca	p.P212A	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	212					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCCTCAGCTGGGGCCTGGTCT	0.592000													21	35					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754140	6754140	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:6754140C>T	ENST00000245908.6	-	8	1576	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R343Q	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	436					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTGGCTCCTTCGGAGCTGGCG	0.637000													15	21					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													6	24					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50227764	50227764	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:50227764G>A	ENST00000332853.4	-	8	917	c.894C>T	c.(892-894)caC>caT	p.H298H		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4							integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGGCAGCCCGGTGGGGTTTGA	0.478000													30	26					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915986	25915986	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:25915986C>T	ENST00000377850.3	-	9	1565	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	SLC17A2_ENST00000265425.3_Silent_p.V347V|SLC17A2_ENST00000360488.3_Silent_p.V347V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	347					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGAGCTTTCGCACAGTGATCA	0.473000													29	34					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16506813	16506813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:16506813C>T	ENST00000354981.2	-	3	312	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	KIF16B_ENST00000355755.3_Missense_Mutation_p.R52Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.R52Q|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	52	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R52L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGTCTTGGTCCGTTCTCTTCC	0.348000													37	74					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220406416	220406416	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:220406416G>A	ENST00000243776.6	-	2	1058	c.810C>T	c.(808-810)atC>atT	p.I270I	CHPF_ENST00000373891.2_Silent_p.I270I|CHPF_ENST00000535926.1_Silent_p.I108I	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	270						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCGCACTGACGATGTCGTTGC	0.662000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	3					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799828	75799828	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:75799828C>T	ENST00000322507.8	-	63	9248	c.8939G>A	c.(8938-8940)cGa>cAa	p.R2980Q	COL12A1_ENST00000416123.2_Missense_Mutation_p.R2904Q|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1816Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2976Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2980	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGCCTACCTCGTTCCCCAGG	0.592000													42	48					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541713	44541713	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:44541713G>A	ENST00000436261.1	-	4	716	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	186					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CACTCATAGGGTTTCTCTCCA	0.458000													13	29					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170946	77170946	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:77170946G>T	ENST00000253506.5	+	2	1040	c.671G>T	c.(670-672)gGg>gTg	p.G224V	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.G211V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.G211V|NFATC1_ENST00000591814.1_Missense_Mutation_p.G224V|NFATC1_ENST00000587635.1_Missense_Mutation_p.G224V|NFATC1_ENST00000592223.1_Missense_Mutation_p.G211V|NFATC1_ENST00000542384.1_Missense_Mutation_p.G224V|NFATC1_ENST00000427363.2_Missense_Mutation_p.G224V|NFATC1_ENST00000318065.5_Missense_Mutation_p.G211V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	224	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TTTCCCCGCGGGCTGGGGGCC	0.711000													16	45					3.52763e-06	3.72648e-06	1	1	0
REV3L	5980	broad.mit.edu	37	6	111694065	111694065	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:111694065G>A	ENST00000435970.1	-	15	6075	c.5259C>T	c.(5257-5259)gaC>gaT	p.D1753D	REV3L_ENST00000368802.3_Silent_p.D1831D|REV3L_ENST00000358835.3_Silent_p.D1831D|REV3L_ENST00000368805.1_Silent_p.D1831D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1831					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACAGGCCACGTCTACAAGTT	0.423000								DNA polymerases (catalytic subunits)					53	91					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082893	11082893	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:11082893G>T	ENST00000304623.8	-	16	2892	c.2703C>A	c.(2701-2703)ctC>ctA	p.L901L	CTNND2_ENST00000458100.2_Silent_p.L468L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L843L|CTNND2_ENST00000503622.1_Silent_p.L564L|CTNND2_ENST00000511377.1_Silent_p.L810L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	901					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTCTATTCGGAGCAGCTCCA	0.552000													15	31					6.72482e-11	7.46219e-11	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551753	1551753	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:1551753G>T	ENST00000381605.4	-	4	846	c.782C>A	c.(781-783)cCc>cAc	p.P261H	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	261	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGCCCTCATGGGCTGTTGAGT	0.542000													15	21					0.00400662	0.0040874	1	1	0
SI	6476	broad.mit.edu	37	3	164786983	164786983	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:164786983C>T	ENST00000264382.3	-	4	318	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	86	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCACAAATTCCCTGATAAAAT	0.343000										HNSCC(35;0.089)			19	42					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612615	51612615	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:51612615G>T	ENST00000371117.3	-	58	10074	c.9799C>A	c.(9799-9801)Cat>Aat	p.H3267N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3267N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3267					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAATTGAATGATCATTCCTC	0.403000													27	43					3.28513e-13	3.70217e-13	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149515223	149515223	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:149515223G>T	ENST00000261799.4	-	3	728	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	87	Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGTTGGTCAGTGTGAGCACG	0.587000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								24	32					1.10923e-09	1.21487e-09	1	1	0
SREBF2	6721	broad.mit.edu	37	22	42266953	42266953	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:42266953G>C	ENST00000361204.4	+	4	947	c.781G>C	c.(781-783)Gat>Cat	p.D261H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	261	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACTGAAGACAGATGGCAGCCC	0.527000													4	146					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724609	50724609	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:50724609C>T	ENST00000515869.1	-	6	2076	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L	PGBD3_ENST00000603152.1_Silent_p.L652L|PGBD3_ENST00000508005.2_Silent_p.L184L|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L652L|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Silent_p.L184L	NM_001277059.1	NP_001263988.1																					AAATAATTCCCAGAAAACATT	0.393000													36	65					0	0	1	0	0
ZNF830	91603	broad.mit.edu	37	17	33289084	33289084	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:33289084G>A	ENST00000361952.3	+	1	536	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	167					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				ggaggaggaagaggaggagga	0.522000													19	19					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502084	26502084	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:26502084G>A	ENST00000244513.6	+	2	412	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	116	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGCGTCAGAGTCTCTGACGA	0.627000													10	28					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966884	39966884	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:39966884G>A	ENST00000336649.4	+	1	127	c.127G>A	c.(127-129)Gat>Aat	p.D43N	CACNA1I_ENST00000402142.3_Missense_Mutation_p.D43N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D43N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D43N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D43N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D43N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	43					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGAGCCTCTGGATGGAGCTGA	0.662000													54	39					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142446017	142446017	+	RNA	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:142446017G>A	ENST00000606664.1	+	0	1373				MROH5_ENST00000430863.1_RNA																							ACTGACCGTGGCGACAGCTGG	0.672000													13	16					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57832232	57832232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:57832232C>A	ENST00000321545.4	+	1	356	c.11C>A	c.(10-12)tCg>tAg	p.S4*		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATGGCAGCCTCGGCGCAGGTG	0.667000													17	11					1.96292e-10	2.15921e-10	1	1	0
BARHL2	343472	broad.mit.edu	37	1	91178119	91178119	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:91178119G>C	ENST00000370445.4	-	3	955	c.914C>G	c.(913-915)tCg>tGg	p.S305W		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	305						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTGCAGCGCCGAGTAGTTCCC	0.627000													7	26					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518827	70518827	+	Silent	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:70518827C>G	ENST00000381269.2	-	5	2664	c.1911G>C	c.(1909-1911)gtG>gtC	p.V637V	SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000394330.2_5'UTR|SLC8A3_ENST00000356921.2_Silent_p.V631V|SLC8A3_ENST00000216568.7_Silent_p.V8V|SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000357887.3_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	637					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCTGTCTGTCACATCTGCAA	0.463000													24	37					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32880011	32880011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:32880011C>T	ENST00000266087.7	+	3	872	c.545C>T	c.(544-546)tCa>tTa	p.S182L	FBXO7_ENST00000397426.1_Missense_Mutation_p.S68L|FBXO7_ENST00000382058.3_Missense_Mutation_p.S103L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	182					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGCCACATTCATTAGAGACC	0.453000													53	141					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283415	152283415	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:152283415C>G	ENST00000368799.1	-	3	3982	c.3947G>C	c.(3946-3948)aGa>aCa	p.R1316T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1316	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)			GTGACTGGCTCTGTCTTCTTG	0.542000									Ichthyosis				99	134					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243857	119243857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:119243857C>T	ENST00000260187.2	-	2	628	c.334G>A	c.(334-336)Gga>Aga	p.G112R	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	112	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TAAGGGAATCCGCTGCCCCCG	0.617000													36	72					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136240106	136240106	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:136240106C>A	ENST00000383202.2	-	7	881	c.625G>T	c.(625-627)Ggt>Tgt	p.G209C	STAG1_ENST00000480733.1_Missense_Mutation_p.G209C|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Missense_Mutation_p.G209C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	209					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCTGACAAACCCGTCAAAAGG	0.363000													30	38					4.65686e-17	5.37985e-17	1	1	0
VIPAS39	63894	broad.mit.edu	37	14	77909469	77909469	+	Silent	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:77909469C>G	ENST00000553888.1	-	9	1134	c.624G>C	c.(622-624)ctG>ctC	p.L208L	VIPAS39_ENST00000557658.1_Silent_p.L208L|VIPAS39_ENST00000448935.2_Silent_p.L159L|VIPAS39_ENST00000556412.1_Silent_p.L234L|VIPAS39_ENST00000327028.4_Silent_p.L195L|VIPAS39_ENST00000343765.2_Silent_p.L208L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CACCTTTGCTCAGTGTCCTCT	0.468000													20	22					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043734	77043734	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:77043734C>A	ENST00000339142.2	+	5	965	c.410C>A	c.(409-411)cCt>cAt	p.P137H	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.P147H|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.P137H|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.P137H|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.P137H|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.P137H|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.P55H|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.P55H|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.P137H|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.P137H	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	137	Collagen-like.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ATGGGGGCCCCTGGGGAGCGG	0.632000													26	34					1.85244e-09	2.02012e-09	1	1	0
TNXB	7148	broad.mit.edu	37	6	32029473	32029473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:32029473G>A	ENST00000375244.3	-	21	7394	c.7193C>T	c.(7192-7194)cCc>cTc	p.P2398L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2398L			P22105	TENX_HUMAN	tenascin XB	2458	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTTCTGTGGGGCTGGGGGT	0.632000													20	28					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106642028	106642028	+	RNA	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:106642028C>A	ENST00000390605.2	-	0	28																											GGGATTCTCCCAAGGAGGGGT	0.502000													6	17					3.59834e-05	3.74642e-05	1	1	0
MYH9	4627	broad.mit.edu	37	22	36745234	36745234	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:36745234G>A	ENST00000216181.5	-	2	278	c.48C>T	c.(46-48)ttC>ttT	p.F16F	MYH9_ENST00000401701.1_Silent_p.F16F	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	16	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATTGTTGATGAAGTTTTTAT	0.532000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				18	38					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118619412	118619412	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:118619412C>A	ENST00000392533.3	-	15	1820	c.1330G>T	c.(1330-1332)Gtt>Ttt	p.V444F	TAOK3_ENST00000537952.1_5'UTR|TAOK3_ENST00000419821.2_Splice_Site_p.V444F	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	444					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCGTGTAACCTGAATTGGG	0.502000											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	33					6.00712e-18	6.9876e-18	1	1	0
RBM48	84060	broad.mit.edu	37	7	92158178	92158178	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:92158178G>C	ENST00000481551.1	+	1	92	c.51G>C	c.(49-51)caG>caC	p.Q17H	RBM48_ENST00000265732.5_Missense_Mutation_p.Q17H			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	17							nucleotide binding										ACCACGTCCAGAGGGCGGTAT	0.557000													19	8					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100355847	100355847	+	RNA	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:100355847C>T	ENST00000542585.1	+	0	3480				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGTTCAGCCCCAACTGCACA	0.542000													12	23					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598686	52598686	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:52598686T>C	ENST00000521508.1	+	3	825	c.820T>C	c.(820-822)Tgc>Cgc	p.C274R	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AGTTGGGAATTGCACTAACAT	0.398000													28	57					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755679	146755679	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:146755679A>T	ENST00000361719.2	+	9	3802	c.3332A>T	c.(3331-3333)tAt>tTt	p.Y1111F	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.Y1111F|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1111	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGTACGTGTATGAGCACGAG	0.632000													31	63					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49854574	49854574	+	Silent	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:49854574T>A	ENST00000377214.4	-	6	947	c.585A>T	c.(583-585)ccA>ccT	p.P195P	TEAD2_ENST00000598810.1_Silent_p.P196P|TEAD2_ENST00000593945.1_Silent_p.P196P|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000601519.1_Silent_p.P195P|TEAD2_ENST00000539846.1_Silent_p.P64P|TEAD2_ENST00000311227.2_Silent_p.P192P			Q15562	TEAD2_HUMAN	TEA domain family member 2	192	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGTCAGTAGATGGGGGAGTCA	0.527000													10	9					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720804	140720804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140720804G>T	ENST00000394576.2	+	1	2266	c.2266G>T	c.(2266-2268)Gag>Tag	p.E756*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCCCACGAGGTCTCCCT	0.602000													42	55					3.10202e-16	3.55923e-16	1	1	0
ZBTB21	49854	broad.mit.edu	37	21	43413217	43413217	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr21:43413217C>T	ENST00000310826.5	-	3	1171	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ZBTB21_ENST00000398505.3_Missense_Mutation_p.D330N|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D330N|ZBTB21_ENST00000398511.3_Missense_Mutation_p.D330N	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CCACTCCTGTCAATGCTTTGG	0.438000													20	35					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598686	32598686	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:32598686A>G	ENST00000318709.4	+	10	1046	c.825A>G	c.(823-825)ggA>ggG	p.G275G	AVL9_ENST00000409301.1_Silent_p.G275G|AVL9_ENST00000404479.1_Silent_p.G275G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	275						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCAACTTGGGAACTATCAGGA	0.468000													21	8					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89177332	89177332	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:89177332C>G	ENST00000535633.1	-	5	656	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.E140Q|NOX4_ENST00000527956.1_Missense_Mutation_p.E116Q|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Missense_Mutation_p.E140Q|NOX4_ENST00000528341.1_Missense_Mutation_p.E115Q|NOX4_ENST00000424319.1_Missense_Mutation_p.E116Q|NOX4_ENST00000542487.1_Missense_Mutation_p.E116Q|NOX4_ENST00000532825.1_Missense_Mutation_p.E116Q|NOX4_ENST00000534731.1_Missense_Mutation_p.E140Q|NOX4_ENST00000413594.2_Missense_Mutation_p.E161Q|NOX4_ENST00000343727.5_Missense_Mutation_p.E116Q	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	140	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GCATTCAGTTCAACAAAGTCT	0.458000													18	55					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381657	156381657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:156381657C>T	ENST00000274532.2	-	2	225	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TIMD4_ENST00000407087.3_Missense_Mutation_p.D57N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	57	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCACTGGTCTTTCCCCCAG	0.527000													24	48					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618301	77618301	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:77618301G>A	ENST00000521891.2	+	2	2426	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E660K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E660K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E660K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	660						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGACCCTGGAGGCCCATAT	0.502000										HNSCC(33;0.089)			15	28					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122369	43122369	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:43122369C>A	ENST00000344697.2	-	2	900	c.555G>T	c.(553-555)ctG>ctT	p.L185L	POMGNT2_ENST00000441964.1_Silent_p.L185L	NM_032806.5	NP_116195.2			protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)																		CCTCGTGGGCCAGGCCGGGAA	0.632000													14	20					2.32078e-09	2.51999e-09	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55697686	55697686	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:55697686G>T	ENST00000376350.3	-	16	2707	c.2685C>A	c.(2683-2685)ccC>ccA	p.P895P	PTPRH_ENST00000263434.5_Silent_p.P717P	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	895	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTGTGGCAGGGGACCCTGGG	0.627000													20	31					1.96292e-10	2.15921e-10	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461464	11461464	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:11461464C>A	ENST00000279575.1	-	3	486	c.453G>T	c.(451-453)caG>caT	p.Q151H	PRB4_ENST00000535904.1_Missense_Mutation_p.Q151H|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	214	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GACCTTGGGACTGGTTACCTC	0.597000										HNSCC(22;0.051)			45	91					1.23103e-26	1.51189e-26	1	1	0
KRI1	65095	broad.mit.edu	37	19	10665769	10665769	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:10665769C>T	ENST00000312962.6	-	18	1812	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	KRI1_ENST00000361821.5_Missense_Mutation_p.R594Q	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	598										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ttactcttctCGGCAGAGTGA	0.597000													21	35					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531014	150531014	+	Missense_Mutation	SNP	T	T	A	rs150054375		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:150531014T>A	ENST00000271643.4	+	15	2684	c.2448T>A	c.(2446-2448)gaT>gaA	p.D816E	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.D816E|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.D816E|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.D839E	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	816	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAATGGTGATGAAGTGAGCG	0.662000													24	32					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306538	119306538	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:119306538C>A	ENST00000478399.1	+	4	2292	c.887C>A	c.(886-888)gCc>gAc	p.A296D	ADPRH_ENST00000357003.3_Missense_Mutation_p.A296D|ADPRH_ENST00000478927.1_Missense_Mutation_p.A296D|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.A296D			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	296					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCCCACCGAGCCTTTTTCCAT	0.547000													27	38					1.50538e-07	1.60701e-07	1	1	0
USP49	25862	broad.mit.edu	37	6	41774068	41774068	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:41774068G>A	ENST00000394253.3	-	3	983	c.654C>T	c.(652-654)gaC>gaT	p.D218D	USP49_ENST00000373009.3_Silent_p.D218D|USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771000													4	4					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10244922	10244922	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:10244922A>T	ENST00000340748.4	-	39	5022	c.4787T>A	c.(4786-4788)aTg>aAg	p.M1596K	DNMT1_ENST00000359526.4_Missense_Mutation_p.M1612K|DNMT1_ENST00000540357.1_Missense_Mutation_p.M1599K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1596	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGGCCAACATACAAAGCTT	0.622000													9	29					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152301928	152301928	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:152301928A>G	ENST00000243326.5	+	18	2546	c.2063A>G	c.(2062-2064)aAc>aGc	p.N688S	RIF1_ENST00000453091.2_Missense_Mutation_p.N688S|RIF1_ENST00000430328.2_Missense_Mutation_p.N688S|RIF1_ENST00000428287.2_Missense_Mutation_p.N688S|RIF1_ENST00000444746.2_Missense_Mutation_p.N688S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTACCAGTAAACCACATTTTT	0.318000													16	6					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150891748	150891748	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:150891748C>T	ENST00000261800.5	-	20	11895	c.11883G>A	c.(11881-11883)aaG>aaA	p.K3961K	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3961	EGF-like 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATGAGCACTTCCCACCAT	0.597000													11	18					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654540	31654540	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr21:31654540G>A	ENST00000340345.4	-	1	736	c.711C>T	c.(709-711)acC>acT	p.T237T		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	237	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GAGGTGGAAAGGTACTGGGTA	0.443000													38	49					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197707328	197707328	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:197707328C>T	ENST00000330198.4	+	6	703	c.681C>T	c.(679-681)aaC>aaT	p.N227N	LMLN_ENST00000420910.2_Silent_p.N227N|LMLN_ENST00000482695.1_Silent_p.N175N|LMLN_ENST00000332636.5_Silent_p.N175N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	227					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCCATGAAAACATCATCTCTT	0.473000													54	74					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70790603	70790603	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:70790603G>C	ENST00000370944.4	-	3	823	c.510C>G	c.(508-510)gtC>gtG	p.V170V	ANKRD13C_ENST00000262346.6_Intron	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	170					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTTCACCTTGACTGGAGCAT	0.368000													45	66					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824668	162824668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:162824668C>T	ENST00000367910.1	-	4	916	c.796G>A	c.(796-798)Gag>Aag	p.E266K	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	266										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTCTCAGACTCAGGGGGGACC	0.502000													24	43					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110689	207110689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:207110689C>T	ENST00000356495.4	-	4	979	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	266	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTTGGCCACGTTTGCCACC	0.597000													29	45					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186382259	186382259	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:186382259G>C	ENST00000307588.3	-	5	367	c.292C>G	c.(292-294)Cca>Gca	p.P98A	CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.P98A	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	98						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTAAATTGTGGGTTTTCTACT	0.299000													41	18					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67074396	67074396	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:67074396G>A	ENST00000308127.4	+	4	605	c.427G>A	c.(427-429)Gag>Aag	p.E143K	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.E143K|SSH3_ENST00000376757.5_Missense_Mutation_p.E143K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	143					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCCAGGATGAGACGGTCCT	0.632000													11	16					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27161305	27161305	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:27161305G>T	ENST00000429845.2	-	36	3669	c.3307C>A	c.(3307-3309)Cat>Aat	p.H1103N	NEK10_ENST00000295720.6_Missense_Mutation_p.H415N|NEK10_ENST00000383771.4_Missense_Mutation_p.H405N|NEK10_ENST00000383770.3_Missense_Mutation_p.H358N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1103							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTAATAAATGGTAATCTGCT	0.403000													19	40					2.70639e-06	2.86493e-06	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5444056	5444056	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:5444056T>G	ENST00000300778.4	+	1	716	c.626T>G	c.(625-627)aTt>aGt	p.I209S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCTCATTATTATCGTGGAT	0.498000													24	57					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233522	27233522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:27233522G>A	ENST00000429845.2	-	27	2865	c.2503C>T	c.(2503-2505)Cac>Tac	p.H835Y	NEK10_ENST00000295720.6_Missense_Mutation_p.H147Y|NEK10_ENST00000383771.4_Missense_Mutation_p.H147Y|NEK10_ENST00000383770.3_Missense_Mutation_p.H147Y|NEK10_ENST00000357467.2_Missense_Mutation_p.H232Y|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	835							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCACTTACGTGAGATAGAACA	0.418000													15	30					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072859	74072859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:74072859C>T	ENST00000370367.3	+	2	264	c.211C>T	c.(211-213)Caa>Taa	p.Q71*		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGGTATGTCCCAAATCTTGAT	0.592000													46	48					0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85736431	85736431	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:85736431T>G	ENST00000370580.1	-	2	953	c.216A>C	c.(214-216)ttA>ttC	p.L72F		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	72	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GGTTTTCCTGTAAGTAGTCTA	0.378000			T	IGH@	MALT								48	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:7576852C>A	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	4					8.4185e-14	9.52967e-14	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13841977	13841977	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:13841977C>A	ENST00000265104.4	-	33	5412	c.5308G>T	c.(5308-5310)Ggt>Tgt	p.G1770C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1770	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCGTCTCACCCTCTTGAGAG	0.333000									Kartagener syndrome				40	47					4.44401e-20	5.27857e-20	1	1	0
CDH22	64405	broad.mit.edu	37	20	44806621	44806621	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:44806621G>T	ENST00000372262.3	-	10	2279	c.1879C>A	c.(1879-1881)Ctc>Atc	p.L627I	CDH22_ENST00000537909.1_Missense_Mutation_p.L627I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	627					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGGGCGATGAGGGCGCCGGGG	0.647000													9	13					1.12685e-05	1.18051e-05	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87144575	87144575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:87144575C>T	ENST00000265724.3	-	26	3671	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1021Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1085	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTCGTAGAACCGCTCCAGGAG	0.527000													11	30					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115381813	115381813	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:115381813T>G	ENST00000369358.4	-	24	2852	c.2608A>C	c.(2608-2610)Aag>Cag	p.K870Q	NRAP_ENST00000360478.3_Missense_Mutation_p.K827Q|NRAP_ENST00000369360.3_Missense_Mutation_p.K835Q|NRAP_ENST00000359988.3_Missense_Mutation_p.K862Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	862						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCGAATCCCTTCTTGTACTCC	0.527000													30	51					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634165	27634165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:27634165G>A	ENST00000305188.8	+	3	578	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_De_novo_Start_InFrame	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	114					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAACTAATGATGAAGATAA	0.358000									SC Phocomelia syndrome				22	7					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38143893	38143893	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:38143893A>T	ENST00000379747.4	-	20	2452	c.2335T>A	c.(2335-2337)Ttg>Atg	p.L779M	POSTN_ENST00000541179.1_Missense_Mutation_p.L752M|POSTN_ENST00000541481.1_Missense_Mutation_p.L692M|POSTN_ENST00000379743.4_Missense_Mutation_p.L752M|POSTN_ENST00000379742.4_Missense_Mutation_p.L722M|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379749.4_Missense_Mutation_p.L779M	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	779					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCTTGTAACAATTTCTTCAGA	0.333000													49	92					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113496667	113496667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:113496667C>T	ENST00000487903.1	+	17	1871	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R595*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R595*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R595*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	595					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)				TGACCAGATCCGAGCCAGAGT	0.512000													8	10					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66844395	66844395	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:66844395T>C	ENST00000341509.5	-	10	1441	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	LCTL_ENST00000537670.1_Missense_Mutation_p.N264S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	437					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGCATTTCATTTATGTATCC	0.358000													33	41					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201754453	201754453	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:201754453G>C	ENST00000367296.4	+	8	3240	c.2820G>C	c.(2818-2820)cgG>cgC	p.R940R	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Silent_p.R940R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.R953R|NAV1_ENST00000367295.1_Silent_p.R549R|NAV1_ENST00000367297.4_Silent_p.R940R|NAV1_ENST00000295624.6_Silent_p.R940R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	940					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGCGGGATCGGAACACTCTTC	0.398000													73	128					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53088413	53088413	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:53088413G>T	ENST00000341809.3	-	5	1105	c.1077C>A	c.(1075-1077)acC>acA	p.T359T	KRT77_ENST00000537195.1_Silent_p.T126T|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	359	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGCCCACCTTGGTCTGGTACA	0.507000													8	14					1.12685e-05	1.18051e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179540673	179540673	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:179540673C>T	ENST00000589042.1	-	148	34652	c.34428G>A	c.(34426-34428)aaG>aaA	p.K11476K	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K11130K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.K10203K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11155	Glu-rich.|Pro-rich.						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)			CCTCCTCTTTCTTGGGAATGA	0.373000													3	2					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11136104	11136104	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:11136104G>T	ENST00000358026.2	+	22	3372	c.3088G>T	c.(3088-3090)Ggc>Tgc	p.G1030C	SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1030C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1030C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1030C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1030C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1030C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1030C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1030C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1030C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1030					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAGGGCAAAGGCGGCACCAA	0.627000			"""F, N, Mis"""		NSCLC								22	29					1.28384e-07	1.37341e-07	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379701	154379701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:154379701C>G	ENST00000406326.1	+	6	1372	c.969C>G	c.(967-969)taC>taG	p.Y323*	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTGTCATACGAGTGTGGCA	0.602000													57	59					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784397	32784397	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:32784397C>T	ENST00000342743.5	+	2	581	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	72						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GGCCAGAGAACGAGCTGCTGT	0.607000													19	35					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564602	36564602	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:36564602G>A	ENST00000397799.1	-	4	904	c.680C>T	c.(679-681)cCc>cTc	p.P227L	COL8A2_ENST00000481785.1_Missense_Mutation_p.P162L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P227L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	227	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGCCGGGGGGGCCGGGGGC	0.711000													10	7					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777529	141777529	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:141777529C>T	ENST00000389484.3	-	12	2903	c.1932G>A	c.(1930-1932)atG>atA	p.M644I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	644					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGATGAGACATTTCACCCT	0.368000										TSP Lung(27;0.18)			35	14					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261150	134261150	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:134261150A>G	ENST00000457545.2	+	9	1053	c.793A>G	c.(793-795)Att>Gtt	p.I265V	AKR1B15_ENST00000423958.1_Missense_Mutation_p.I237V	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	265							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GATTAAGGAGATTGCTGCAAA	0.453000													16	38					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187073128	187073128	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:187073128G>A	ENST00000356371.5	+	4	888	c.888G>A	c.(886-888)ggG>ggA	p.G296G	FAM149A_ENST00000503432.1_Silent_p.G5G|FAM149A_ENST00000227065.4_Silent_p.G5G|FAM149A_ENST00000502970.1_Silent_p.G5G|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.G5G|FAM149A_ENST00000514153.1_Silent_p.G5G			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	296										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TATTTGAAGGGAAAGTGAACC	0.507000													10	4					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236801	53236801	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:53236801C>T	ENST00000294353.6	+	3	451	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZYG11B_ENST00000443756.2_Silent_p.F102F|ZYG11B_ENST00000545132.1_Silent_p.F102F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	102							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GGAAAGCTTTCTGCCACCACA	0.468000													49	71					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102256137	102256137	+	Missense_Mutation	SNP	C	C	T	rs144968144		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:102256137C>T	ENST00000370345.3	-	18	2285	c.2188G>A	c.(2188-2190)Ggt>Agt	p.G730S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	730					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCATGAGGACCCCGCAGTTGC	0.582000													15	43					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140715038	140715038	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:140715038G>A	ENST00000520439.1	-	1	261	c.198C>T	c.(196-198)atC>atT	p.I66I	KCNK9_ENST00000303015.1_Silent_p.I66I	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	66						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCGACTGCAGGATCACCAGCT	0.602000													16	20					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086562	92086562	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:92086562G>C	ENST00000298047.6	+	1	1301	c.1284G>C	c.(1282-1284)ctG>ctC	p.L428L	FAT3_ENST00000409404.2_Silent_p.L428L|FAT3_ENST00000541502.1_Silent_p.L428L|FAT3_ENST00000525166.1_Silent_p.L278L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	428	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTCGGGTCTGATTGTTACAG	0.403000										TCGA Ovarian(4;0.039)			3	21					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888069	97888069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:97888069C>T	ENST00000356526.2	+	1	526	c.526C>T	c.(526-528)Cac>Tac	p.H176Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATAGTACATCACATTTACTG	0.318000													21	28					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505769	130505769	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:130505769C>T	ENST00000532763.1	-	5	507		c.e5-1		SAMD3_ENST00000368134.2_Splice_Site|SAMD3_ENST00000533296.1_Splice_Site|SAMD3_ENST00000437477.2_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000324172.6_Splice_Site			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACATTTCTTCTGTGAAATAA	0.323000													13	11					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922408	140922408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:140922408C>T	ENST00000389328.4	-	20	3255	c.3241G>A	c.(3241-3243)Ggc>Agc	p.G1081S	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G974S|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G983S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	983					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.G1081S(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCAGATGCCCAGCTTGCTG	0.602000													42	33					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57468000	57468000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:57468000G>A	ENST00000394391.4	-	5	753	c.512C>T	c.(511-513)tCt>tTt	p.S171F	CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S171F|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S144F|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S171F|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S158F|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S171F	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	171					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAGCTGCCTAGAAGAACCCAC	0.453000													28	37					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113304082	113304082	+	Silent	SNP	G	G	A	rs139102005		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:113304082G>A	ENST00000264852.4	+	9	1692	c.966G>A	c.(964-966)ttG>ttA	p.L322L	SIDT1_ENST00000393830.3_Silent_p.L322L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	322						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTTCTACTTGGGATGCCTTC	0.428000													46	89					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579845	55579845	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:55579845C>T	ENST00000333973.2	+	1	992	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAGAAGCTCTCAGAAAAGTGA	0.473000													22	25					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31132581	31132581	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:31132581C>T	ENST00000261177.9	+	5	491	c.432C>T	c.(430-432)gcC>gcT	p.A144A	TSPAN11_ENST00000546076.1_Silent_p.A144A|TSPAN11_ENST00000535215.1_Silent_p.A73A|TSPAN11_ENST00000544427.1_Silent_p.A134A	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	144						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGATCACCGCCTCAGTGGACC	0.567000													16	19					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457523	55457523	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:55457523T>C	ENST00000371268.3	+	3	654	c.380T>C	c.(379-381)gTt>gCt	p.V127A	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	127						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CCCAAAGTGGTTGACATCCCC	0.632000													40	54					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126678	19126678	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:19126678G>T	ENST00000381440.3	+	1	1425	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	299						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CACTGACTACGGCTGCTGCCG	0.652000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	33					3.03874e-20	3.61789e-20	1	1	0
DHX15	1665	broad.mit.edu	37	4	24558034	24558034	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:24558034C>T	ENST00000336812.4	-	4	858		c.e4-1			NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGTCATATACCTATATTCCAA	0.368000													17	25					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74407159	74407159	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:74407159G>T	ENST00000437994.2	+	2	542	c.111G>T	c.(109-111)agG>agT	p.R37S	CD109_ENST00000422508.2_Missense_Mutation_p.R37S|CD109_ENST00000287097.5_Missense_Mutation_p.R37S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	37						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGATCATCAGGCCCGGAGGAA	0.507000													40	36					7.05121e-23	8.47485e-23	1	1	0
ANP32A	8125	broad.mit.edu	37	15	69079849	69079849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:69079849G>A	ENST00000465139.2	-	3	373	c.230C>T	c.(229-231)tCa>tTa	p.S77L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.S77L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	77					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CAGGCCCCCTGAGACTCTGTT	0.448000													39	78					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186333481	186333481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:186333481C>T	ENST00000411641.2	+	2	440	c.221C>T	c.(220-222)tCc>tTc	p.S74F	AHSG_ENST00000273784.5_Missense_Mutation_p.S74F			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	74	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CAGCAGCCCTCCGGAGAGCTG	0.582000											OREG0015967	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	31					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161574425	161574425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:161574425G>A	ENST00000320285.4	-	5	829	c.617C>T	c.(616-618)cCa>cTa	p.P206L	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	206					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CTTGGTTCGTGGCAACAGGTG	0.602000											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204534	45204534	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:45204534G>T	ENST00000263765.4	+	5	697	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	PRDM11_ENST00000424263.2_Missense_Mutation_p.G116C|PRDM11_ENST00000530656.1_Missense_Mutation_p.G150C|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	150	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CATCCCACAGGGCATGGAGGT	0.612000													13	18					3.27435e-08	3.51767e-08	1	1	0
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627000													7	2					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314039	54314039	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:54314039T>C	ENST00000324134.6	-	3	1042	c.874A>G	c.(874-876)Atc>Gtc	p.I292V	NLRP12_ENST00000345770.5_Missense_Mutation_p.I292V|NLRP12_ENST00000535162.1_Missense_Mutation_p.I292V|NLRP12_ENST00000391772.1_Missense_Mutation_p.I292V|NLRP12_ENST00000354278.3_Missense_Mutation_p.I292V|NLRP12_ENST00000391775.3_Missense_Mutation_p.I292V|NLRP12_ENST00000351894.4_Missense_Mutation_p.I292V|NLRP12_ENST00000391773.1_Missense_Mutation_p.I292V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	292	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCGTCGATGATGAAAAGGAGG	0.597000													11	16					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147024795	147024795	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:147024795A>T	ENST00000218200.8	+	13	1586	c.1357A>T	c.(1357-1359)Aga>Tga	p.R453*	FMR1_ENST00000440235.2_Nonsense_Mutation_p.R121*|FMR1_ENST00000370477.1_Nonsense_Mutation_p.R453*|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370470.1_Nonsense_Mutation_p.R474*|FMR1_ENST00000370475.4_Nonsense_Mutation_p.R474*|FMR1_ENST00000439526.2_Nonsense_Mutation_p.R451*|FMR1_ENST00000492846.1_3'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	474	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAGGTAGTAGACCTTACAG	0.438000									Fragile X syndrome				44	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867959	13867959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:13867959C>T	ENST00000265104.4	-	25	4081	c.3977G>A	c.(3976-3978)aGt>aAt	p.S1326N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1326	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTTGAAACTGGGCTGCAG	0.448000									Kartagener syndrome				43	53					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833184	101833184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:101833184G>A	ENST00000263468.8	+	6	1688	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R274K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	473							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGTCAGCTAGACCTTCAGCA	0.338000													35	27					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130748658	130748658	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:130748658G>T	ENST00000383366.4	+	3	399	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	NEK11_ENST00000511262.1_Missense_Mutation_p.G36C|NEK11_ENST00000356918.4_Missense_Mutation_p.G36C|NEK11_ENST00000510769.1_Missense_Mutation_p.G36C|NEK11_ENST00000507910.1_Missense_Mutation_p.G36C|NEK11_ENST00000429253.2_Missense_Mutation_p.G36C|NEK11_ENST00000508196.1_Missense_Mutation_p.G36C|NEK11_ENST00000510688.1_Missense_Mutation_p.G36C|NEK11_ENST00000412440.2_5'UTR	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	36	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACAAAAACTTGGCAGTGGAAG	0.413000													35	58					1.62565e-12	1.82795e-12	1	1	0
BCHE	590	broad.mit.edu	37	3	165548516	165548516	+	Silent	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:165548516T>A	ENST00000264381.3	-	2	472	c.306A>T	c.(304-306)ccA>ccT	p.P102P	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	102					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATGGAAGCCTGGAAAACTTT	0.398000													67	72					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554546	19554546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:19554546G>A	ENST00000328405.2	+	13	2430	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	722	Poly-Glu.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gggggaggaagaggaggCAGT	0.507000													16	31					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47619228	47619228	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:47619228G>A	ENST00000383738.2	-	2	2386	c.288C>T	c.(286-288)acC>acT	p.T96T	CSPG5_ENST00000264723.4_Silent_p.T96T|CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000465441.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	96					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGCGGTGCCGGTCACCGCAG	0.731000													25	10					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:55541605G>A	ENST00000361760.1	+	1	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGAAGATGCGATCTGCAAGT	0.423000													37	43					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681929	161681929	+	Silent	SNP	C	C	T	rs147507735		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:161681929C>T	ENST00000540926.1	+	5	1016	c.723C>T	c.(721-723)tcC>tcT	p.S241S	FCRLA_ENST00000309691.6_Silent_p.S146S|FCRLA_ENST00000546024.1_Silent_p.S163S|FCRLA_ENST00000236938.6_Silent_p.S252S|FCRLA_ENST00000367959.2_Silent_p.S258S|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367957.2_Silent_p.S112S|FCRLA_ENST00000540521.1_Silent_p.S118S|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.S241S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Silent_p.S101S			Q7L513	FCRLA_HUMAN	Fc receptor-like A	235	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region		p.S235S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AAGATCACTCCGGGTCATACT	0.547000													19	64					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496266	52496266	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:52496266C>G	ENST00000216286.5	-	10	2399	c.2400G>C	c.(2398-2400)gtG>gtC	p.V800V	NID2_ENST00000541773.1_Splice_Site_p.V747V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	800	EGF-like 2.					basement membrane	calcium ion binding|collagen binding	p.V800V(1)|p.D801Y(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGCTCTTACCCACACAGTTCC	0.522000													26	31					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087972	92087972	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:92087972C>T	ENST00000298047.6	+	1	2711	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	FAT3_ENST00000409404.2_Silent_p.A898A|FAT3_ENST00000541502.1_Silent_p.A898A|FAT3_ENST00000525166.1_Silent_p.A748A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	898	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCCAAAGCCAATTATTCTT	0.418000										TCGA Ovarian(4;0.039)			56	71					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629483	48629483	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:48629483C>T	ENST00000006658.6	+	14	2019	c.1899C>T	c.(1897-1899)ggC>ggT	p.G633G	SPATA20_ENST00000356488.4_Silent_p.G617G|SPATA20_ENST00000393244.3_Silent_p.G573G|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	617					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.G633G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCAGGGTGGCGGCTACTTCT	0.647000													9	20					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96116342	96116342	+	Missense_Mutation	SNP	T	T	C	rs35335480		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:96116342T>C	ENST00000371361.3	-	5	615	c.515A>G	c.(514-516)gAt>gGt	p.D172G	NOC3L_ENST00000371350.1_Missense_Mutation_p.D172G|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	172						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTTGTTACTATCAGTAACTAT	0.303000													56	57					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381993	41381993	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:41381993C>A	ENST00000377801.3	-	2	821	c.747G>T	c.(745-747)ctG>ctT	p.L249L	PLCXD3_ENST00000328457.3_Silent_p.L249L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	249					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTTTGGGGGTCAGCACCACCT	0.478000													25	29					2.4375e-19	2.88171e-19	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38718329	38718329	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:38718329G>T	ENST00000359357.3	+	7	974	c.720G>T	c.(718-720)ttG>ttT	p.L240F	DNAH8_ENST00000441566.1_Missense_Mutation_p.L240F|DNAH8_ENST00000449981.2_Missense_Mutation_p.L457F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATACTTTGGAAAAAGTGT	0.348000													22	22					1.36565e-18	1.59958e-18	1	1	0
ACBD5	91452	broad.mit.edu	37	10	27508695	27508695	+	Silent	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:27508695T>C	ENST00000396271.3	-	6	708	c.582A>G	c.(580-582)gaA>gaG	p.E194E	ACBD5_ENST00000375901.1_Silent_p.E85E|ACBD5_ENST00000375888.1_Silent_p.E203E|ACBD5_ENST00000375897.3_Silent_p.E85E|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.E159E	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	203					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTTGGGCCTCTTCTTCCTCAG	0.383000													29	54					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157175005	157175005	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:157175005G>A	ENST00000262177.4	+	6	617	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	DNAJB6_ENST00000452797.2_Missense_Mutation_p.G89R|DNAJB6_ENST00000429029.2_Missense_Mutation_p.G138R|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	138	Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CCGAGGGACGGGGTCGTTTTT	0.423000													33	138					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790116	6790116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:6790116C>T	ENST00000338569.2	-	1	170	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGAGCAGTTCAGGAGACCCA	0.507000													22	29					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370229	186370229	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:186370229C>A	ENST00000265029.3	+	7	1059	c.958C>A	c.(958-960)Cct>Act	p.P320T	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.P283T|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.P172T|FETUB_ENST00000450521.1_Missense_Mutation_p.P320T|FETUB_ENST00000382134.3_Missense_Mutation_p.P255T	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	320						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GGAAAAGGGCCCTCAGGAGGC	0.522000													51	70					5.13769e-22	6.16035e-22	1	1	0
GALK2	2585	broad.mit.edu	37	15	49575789	49575789	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:49575789G>A	ENST00000327171.3	+	7	829	c.597G>A	c.(595-597)ctG>ctA	p.L199L	GALK2_ENST00000396509.2_Silent_p.L186L|GALK2_ENST00000559454.1_Silent_p.L186L|GALK2_ENST00000560031.1_Silent_p.L210L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Silent_p.L81L|GALK2_ENST00000544523.1_Silent_p.L186L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	210					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TTAGTCCTCTGAGGGCAACCG	0.368000													15	32					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33255417	33255417	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:33255417G>A	ENST00000374617.4	-	7	1058	c.702C>T	c.(700-702)aaC>aaT	p.N234N	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	234										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCTCCATGACGTTGATCTCGC	0.567000													14	19					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103468817	103468817	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:103468817C>G	ENST00000358392.2	-	21	2305	c.1988G>C	c.(1987-1989)cGa>cCa	p.R663P	COL11A1_ENST00000370096.3_Missense_Mutation_p.R651P|COL11A1_ENST00000512756.1_Missense_Mutation_p.R535P|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.R612P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	651	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCAAACCTCGTGGGCCCTA	0.413000													17	19					0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45464499	45464499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:45464499C>G	ENST00000290894.8	-	6	1305	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	SHF_ENST00000458022.2_Missense_Mutation_p.E87Q|SHF_ENST00000560471.1_Missense_Mutation_p.E336Q|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Missense_Mutation_p.E281Q|SHF_ENST00000560540.1_Missense_Mutation_p.E289Q	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	271										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CAGCTCTTCTCCGGTCCTTCA	0.587000													14	10					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110819	31110819	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:31110819C>T	ENST00000396268.3	-	17	2600	c.2412G>A	c.(2410-2412)gtG>gtA	p.V804V	CCHCR1_ENST00000451521.2_Silent_p.V768V|CCHCR1_ENST00000376266.5_Silent_p.V715V|CCHCR1_ENST00000396263.2_Silent_p.V662V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	715					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCTGGACACCACAGATTTCT	0.557000													104	133					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856825	72856825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:72856825C>T	ENST00000339594.4	-	19	4491	c.4153G>A	c.(4153-4155)Gac>Aac	p.D1385N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D1385N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1385	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCTGAAAGTCCATGGGGTGC	0.498000													49	58					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161528979	161528979	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:161528979G>A	ENST00000392142.4	+	21	4245	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1362E|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1312E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1316E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1366	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTCGACACCGGGGAGCTGATG	0.577000													20	19					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120796680	120796680	+	Silent	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:120796680T>C	ENST00000369144.3	-	21	3997	c.3870A>G	c.(3868-3870)agA>agG	p.R1290R	EIF3A_ENST00000541549.1_Silent_p.R1256R	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1290	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCTGTCGTCTCTTAGATCTC	0.522000													41	74					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21101956	21101956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:21101956C>A	ENST00000255882.6	-	29	3364	c.3278G>T	c.(3277-3279)gGa>gTa	p.G1093V	PI4KA_ENST00000572273.1_Missense_Mutation_p.G1035V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1035					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGGGACAGTCCCGATACCCA	0.478000													33	89					1.06647e-15	1.21539e-15	1	1	0
CX3CL1	6376	broad.mit.edu	37	16	57416169	57416169	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:57416169C>T	ENST00000565912.1	+	2	3011	c.305C>T	c.(304-306)cCg>cTg	p.P102L	CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P146L|CX3CL1_ENST00000006053.6_Missense_Mutation_p.P140L			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	140	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCTGGAGCCGACTCCTTCT	0.682000													20	31					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16705105	16705105	+	Missense_Mutation	SNP	C	C	T	rs146833365		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:16705105C>T	ENST00000433922.2	+	2	215	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	BZW2_ENST00000452975.2_Missense_Mutation_p.R13W|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Intron|BZW2_ENST00000258761.3_Missense_Mutation_p.R13W	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	13					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AACAGGCCAGCGGTTCAAAAC	0.353000													3	46					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447888	135447888	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:135447888C>T	ENST00000343036.2	+	7	1002	c.954C>T	c.(952-954)acC>acT	p.T318T	C9orf171_ENST00000393216.2_Silent_p.T282T	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	318										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCAACTACACCCACCCCTAGC	0.597000													6	2					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596962	142596962	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:142596962G>T	ENST00000370503.2	-	2	191	c.108C>A	c.(106-108)gcC>gcA	p.A36A	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	36										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTTCGGGGGCTAAGACTC	0.378000													36	9					1.69901e-12	1.90621e-12	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33284243	33284243	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:33284243C>T	ENST00000315596.10	+	19	2309	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	708					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CACATCAGATCGTGAGTTGAG	0.318000													4	19					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030140	95030140	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:95030140C>T	ENST00000557004.1	+	2	742	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.F107F|SERPINA4_ENST00000555095.1_Silent_p.F107F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	107					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCTGGGCTTCAACCTCACCG	0.627000													22	20					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44920650	44920650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:44920650C>T	ENST00000377967.4	+	14	1452	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S	KDM6A_ENST00000382899.4_Missense_Mutation_p.P478S|KDM6A_ENST00000543216.1_Missense_Mutation_p.P426S|KDM6A_ENST00000536777.1_Missense_Mutation_p.P426S	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	471					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTGTTTGACACCACAGAAATT	0.323000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	4					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41421765	41421765	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:41421765A>G	ENST00000551295.2	+	22	2934	c.2817A>G	c.(2815-2817)ggA>ggG	p.G939G	CNTN1_ENST00000348761.2_Silent_p.G928G|CNTN1_ENST00000347616.1_Silent_p.G939G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	939	Fibronectin type-III 4.				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)				CAGTGACGGGATATAAGGTAT	0.378000													20	30					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564704	176564704	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:176564704C>A	ENST00000367662.3	+	3	3128	c.1964C>A	c.(1963-1965)aCc>aAc	p.T655N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T655N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	655	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGCGCAAGACCTGCTTTGAC	0.517000													16	14					1.45105e-14	1.64996e-14	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55493813	55493813	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:55493813G>A	ENST00000543010.1	+	6	890	c.747G>A	c.(745-747)gaG>gaA	p.E249E	NLRP2_ENST00000339757.7_Silent_p.E227E|NLRP2_ENST00000537859.1_Silent_p.E227E|NLRP2_ENST00000391721.4_Silent_p.E225E|NLRP2_ENST00000538819.1_Silent_p.E225E|NLRP2_ENST00000263437.6_Silent_p.E246E|NLRP2_ENST00000448584.2_Silent_p.E249E|NLRP2_ENST00000427260.2_Silent_p.E226E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	249	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGCAGGGAGCTCAGCCGCC	0.542000													21	19					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62863951	62863951	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:62863951G>A	ENST00000512091.2	+	20	3906	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L	LPHN3_ENST00000545650.1_Silent_p.L1053L|LPHN3_ENST00000504896.1_Silent_p.L1053L|LPHN3_ENST00000511324.1_Silent_p.L1121L|LPHN3_ENST00000514157.1_Silent_p.L1053L|LPHN3_ENST00000506746.1_Silent_p.L1121L|LPHN3_ENST00000514996.1_Silent_p.L1053L|LPHN3_ENST00000506720.1_Silent_p.L1121L|LPHN3_ENST00000508693.1_Silent_p.L1121L|LPHN3_ENST00000514591.1_Silent_p.L1053L|LPHN3_ENST00000506700.1_Silent_p.L1053L|LPHN3_ENST00000509896.1_Silent_p.L1121L|LPHN3_ENST00000507164.1_Silent_p.L1121L|LPHN3_ENST00000508946.1_Silent_p.L1053L|LPHN3_ENST00000507625.1_Silent_p.L1121L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGCTATACTGAAACCTGAAT	0.308000													18	25					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37872618	37872618	+	Silent	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:37872618C>G	ENST00000406381.2	+	15	1998	c.1488C>G	c.(1486-1488)acC>acG	p.T496T	ERBB2_ENST00000540147.1_Silent_p.T496T|ERBB2_ENST00000541774.1_Silent_p.T511T|ERBB2_ENST00000584601.1_Silent_p.T496T|ERBB2_ENST00000578199.1_Silent_p.T496T|ERBB2_ENST00000269571.5_Silent_p.T526T|ERBB2_ENST00000540042.1_Silent_p.T496T|ERBB2_ENST00000445658.2_Silent_p.T250T|ERBB2_ENST00000584450.1_Silent_p.T526T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	526					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGGGCCCACCCAGTGTGTCA	0.672000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			5	7					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74277834	74277834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:74277834G>A	ENST00000295897.4	+	7	924	c.835G>A	c.(835-837)Gat>Aat	p.D279N	ALB_ENST00000401494.3_Missense_Mutation_p.D164N|ALB_ENST00000415165.2_Missense_Mutation_p.D87N|ALB_ENST00000503124.1_Missense_Mutation_p.D129N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D279N	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	279	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.D279Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAATGTGCTGATGACAGGGT	0.453000													33	49					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183603148	183603148	+	Silent	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:183603148T>A	ENST00000511685.1	+	11	2139	c.2016T>A	c.(2014-2016)acT>acA	p.T672T	TENM3_ENST00000406950.2_Silent_p.T672T|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CTAACTGGACTGGCCCAGACT	0.448000													19	7					0	0	1	0	0
C14orf142	84520	broad.mit.edu	37	14	93673206	93673206	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:93673206C>A	ENST00000306954.4	-	1	233	c.177G>T	c.(175-177)cgG>cgT	p.R59R	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	59										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CCGCCGCCACCCGGTGCTGCA	0.642000											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	11					2.27111e-07	2.41933e-07	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531064	140531064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140531064G>A	ENST00000231136.1	+	1	1226	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R273K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		409	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACAGAGAGAGCAGA	0.493000													34	35					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613562	613562	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:613562C>A	ENST00000409413.3	+	2	547	c.268C>A	c.(268-270)Cca>Aca	p.P90T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	90	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGCACCCACCCCAGACCGCCC	0.711000													3	12					1	1	1	1	0
PHRF1	57661	broad.mit.edu	37	11	608431	608431	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:608431G>T	ENST00000264555.5	+	14	3103	c.2975G>T	c.(2974-2976)cGg>cTg	p.R992L	PHRF1_ENST00000416188.2_Missense_Mutation_p.R991L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R990L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R988L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	992	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCCCTTCCCGGTCCCGCTCC	0.677000													4	8					1.23904e-05	1.29269e-05	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55563864	55563864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:55563864G>A	ENST00000436346.1	-	14	2450	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.Q537*|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.Q537*|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.Q537*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	537					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCAAGCTGAGCTTTCTCC	0.294000													31	163					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86252081	86252081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:86252081C>G	ENST00000370571.2	-	48	4381	c.4015G>C	c.(4015-4017)Ggt>Cgt	p.G1339R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1339R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1339	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTGATGAACCCTTTACTCCT	0.488000													41	48					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2991962	2991962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:2991962G>T	ENST00000246112.4	+	14	1567	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	TLE6_ENST00000452088.1_Nonsense_Mutation_p.E333*	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	333					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GAAACCTCTGGAGTACCAATT	0.572000													17	35					9.7654e-05	0.000101049	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47588629	47588629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:47588629C>T	ENST00000253048.5	-	7	950	c.913G>A	c.(913-915)Gag>Aag	p.E305K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	305	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TTGGAGTACTCGTCATAGTCG	0.612000													26	41					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75602843	75602843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:75602843C>T	ENST00000294638.5	+	4	828	c.164C>T	c.(163-165)cCg>cTg	p.P55L	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.P45L	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	55						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCGCTGTCCCCGTCGTCCTCG	0.682000													11	15					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898302	36898302	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:36898302G>A	ENST00000301807.6	-	12	3026	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R377W|TRANK1_ENST00000429976.2_Missense_Mutation_p.R927W			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	927					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCTTCCGCAGGACACAG	0.483000													23	41					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53654791	53654791	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:53654791A>C	ENST00000342160.3	-	15	1739	c.1282T>G	c.(1282-1284)Ttt>Gtt	p.F428V	HUWE1_ENST00000262854.6_Missense_Mutation_p.F428V|HUWE1_ENST00000218328.8_Missense_Mutation_p.F428V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	428					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGTGACAAATGTTATCTGG	0.388000													22	3					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38692654	38692654	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:38692654G>A	ENST00000413574.2	-	8	1187	c.924C>T	c.(922-924)acC>acT	p.T308T	CSNK1E_ENST00000396832.1_Intron|CSNK1E_ENST00000405675.3_3'UTR|CSNK1E_ENST00000400206.2_Intron|CSNK1E_ENST00000359867.3_Intron|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000403904.1_Intron			P49674	KC1E_HUMAN	casein kinase 1, epsilon	0					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CCAGGAAGGCGGTCAGACCAG	0.567000													15	55					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82868379	82868379	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:82868379G>T	ENST00000265077.3	+	13	10445	c.9880G>T	c.(9880-9882)Gtc>Ttc	p.V3294F	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Splice_Site_p.V1540F|VCAN_ENST00000512590.2_Splice_Site_p.V1492F|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Splice_Site_p.V2307F|VCAN_ENST00000502527.2_Splice_Site_p.V553F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3294	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAAGGAACAGGTAATGATCA	0.363000													29	56					3.99451e-17	4.62522e-17	1	1	0
RGS18	64407	broad.mit.edu	37	1	192150526	192150526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:192150526C>T	ENST00000367460.3	+	4	569	c.388C>T	c.(388-390)Caa>Taa	p.Q130*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	130	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGACCTCAACAAATTCACCT	0.323000													35	51					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981517	64981517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:64981517C>T	ENST00000268603.4	-	13	2995	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N	CDH11_ENST00000566827.1_Missense_Mutation_p.D668N|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	794					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAAGAATCGTCATCAAAAGTG	0.373000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			39	49					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4743763	4743763	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:4743763C>T	ENST00000405142.1	+	1	45	c.36C>T	c.(34-36)atC>atT	p.I12I	NUDT16L1_ENST00000304301.6_Silent_p.I12I|NUDT16L1_ENST00000586252.1_Silent_p.I12I|NUDT16L1_ENST00000586536.1_Silent_p.I12I			Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	12						cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TGAAGCAGATCAGCCGGGTGG	0.711000													5	4					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99150515	99150515	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:99150515C>G	ENST00000370189.5	+	3	427	c.63C>G	c.(61-63)atC>atG	p.I21M	SNX7_ENST00000306121.3_Missense_Mutation_p.I85M|SNX7_ENST00000529992.1_Missense_Mutation_p.I85M			Q9UNH6	SNX7_HUMAN	sorting nexin 7	21					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TAAACCAAATCAAGTTTGAGG	0.343000													38	49					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38697703	38697703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:38697703C>T	ENST00000449981.2	+	4	660	c.551C>T	c.(550-552)gCg>gTg	p.A184V	DNAH8_ENST00000359357.3_Intron					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTTTTTTGCGAAAGATGGT	0.328000													4	8					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058703	152058703	+	Silent	SNP	G	G	A	rs150195731	byFrequency	TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:152058703G>A	ENST00000368806.1	-	3	1519	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	485							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCAGGTGCGTTTTTGCTGT	0.478000													74	94					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117681198	117681198	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:117681198C>G	ENST00000317775.6	-	19	3551	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NOS1_ENST00000338101.4_Missense_Mutation_p.E990Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	956					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGGCCTTTTCAATGTTGACA	0.502000													32	45					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124467277	124467277	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:124467277G>T	ENST00000357628.3	-	17	2275	c.1677C>A	c.(1675-1677)ctC>ctA	p.L559L	POT1_ENST00000393329.1_Silent_p.L428L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	559					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAGAATCCATGAGATAGGCTT	0.303000													9	45					4.68919e-08	5.02697e-08	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173251	51173251	+	Missense_Mutation	SNP	G	G	A	rs148016347		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:51173251G>A	ENST00000440970.1	-	2	3022	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S961F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	961					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGGTGGGAGACAAACCATT	0.512000													22	24					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27013743	27013743	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:27013743C>T	ENST00000314616.6	+	21	2919	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S879F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	879					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGCTGTCATCTATTGGGGTA	0.517000													19	34					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146264805	146264805	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:146264805C>T	ENST00000367503.3	-	9	2110	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	SHPRH_ENST00000438092.2_Missense_Mutation_p.R571K|SHPRH_ENST00000367505.2_Missense_Mutation_p.R571K|SHPRH_ENST00000275233.7_Missense_Mutation_p.R571K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	571					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACTGCGATTTCTCCTGGACTT	0.378000													30	62					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30450436	30450436	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:30450436C>T	ENST00000278979.3	-	6	440	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	DUSP15_ENST00000486996.1_Missense_Mutation_p.A22T|DUSP15_ENST00000398083.1_Missense_Mutation_p.A22T|DUSP15_ENST00000339738.5_Missense_Mutation_p.A125T|DUSP15_ENST00000375966.4_Missense_Mutation_p.A122T|DUSP15_ENST00000398084.2_Missense_Mutation_p.A22T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	122	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGGGGTTGGCGATGGGCCTG	0.612000													27	45					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679551	100679551	+	Silent	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:100679551T>C	ENST00000306151.4	+	3	4918	c.4854T>C	c.(4852-4854)ggT>ggC	p.G1618G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1618	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGCTGAAGGTAGCAGCATGA	0.498000													92	171					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36898790	36898790	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:36898790C>G	ENST00000392161.3	-	3	377	c.135G>C	c.(133-135)ctG>ctC	p.L45L	ZFP82_ENST00000392171.1_Splice_Site_p.L45L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAACCTTACCCAGTGAGACCA	0.398000													33	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580363	82580363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:82580363C>A	ENST00000333891.9	-	6	9878	c.9541G>T	c.(9541-9543)Gtt>Ttt	p.V3181F	PCLO_ENST00000423517.2_Missense_Mutation_p.V3181F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGTGGGAACAGAGTCTATC	0.433000													15	22					2.32078e-09	2.51999e-09	1	1	0
TSPAN4	7106	broad.mit.edu	37	11	862609	862609	+	Silent	SNP	C	C	T	rs140041258	byFrequency	TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:862609C>T	ENST00000397404.1	+	4	382	c.123C>T	c.(121-123)ttC>ttT	p.F41F	TSPAN4_ENST00000397396.1_5'UTR|TSPAN4_ENST00000525201.1_5'UTR|TSPAN4_ENST00000346501.4_Silent_p.F41F|TSPAN4_ENST00000397411.2_Silent_p.F41F|TSPAN4_ENST00000397397.2_Silent_p.F41F|TSPAN4_ENST00000409531.1_Silent_p.F60F|TSPAN4_ENST00000409543.2_Silent_p.F41F|TSPAN4_ENST00000397408.1_Silent_p.F41F|TSPAN4_ENST00000397406.1_Silent_p.F41F	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	41					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGGAGCTTCGCCACGCTGT	0.657000													10	16					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409871	79409871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:79409871C>T	ENST00000307745.7	+	9	1496	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F																								TTGCCCACCTCTTCACAGGAC	0.637000													13	19					0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991641	6991641	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:6991641C>A	ENST00000256722.5	-	4	1165	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	CMPK2_ENST00000404168.1_Missense_Mutation_p.R389L|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	389					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.R389L(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCATGCCCCGGCCCTGCAG	0.557000													16	18					8.60227e-14	9.71596e-14	1	1	0
CA1	759	broad.mit.edu	37	8	86250649	86250649	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:86250649T>A	ENST00000523953.1	-	4	1113	c.67A>T	c.(67-69)Att>Ttt	p.I23F	CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.I23F|CA1_ENST00000256119.5_Missense_Mutation_p.I23F|CA1_ENST00000431316.1_Missense_Mutation_p.I23F|CA1_ENST00000542576.1_Missense_Mutation_p.I23F|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.I23F			P00915	CAH1_HUMAN	carbonic anhydrase I	23					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CCATTGGCAATGGGATACAGC	0.408000													86	77					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103279428	103279428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr13:103279428G>A	ENST00000376052.3	+	7	867	c.851G>A	c.(850-852)gGg>gAg	p.G284E	TPP2_ENST00000376065.4_Missense_Mutation_p.G284E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	284					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACGGAATGGGGTAGCTCCT	0.458000													23	64					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45479459	45479459	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:45479459T>A	ENST00000334940.6	+	5	432	c.298T>A	c.(298-300)Tct>Act	p.S100T	RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	94					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGCAGTTGTCTGTTTTCAG	0.602000													4	2					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725625	158725625	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:158725625G>C	ENST00000368144.2	+	1	1116	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GGGCTGGTTGGGCTGGGAAAT	0.413000													29	48					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199305	118199305	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:118199305C>A	ENST00000425217.1	-	4	464	c.410G>T	c.(409-411)tGg>tTg	p.W137L	KSR2_ENST00000339824.5_Missense_Mutation_p.W166L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	166					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGATGGTCCAGTCTTGTTT	0.572000													35	63					3.93418e-24	4.77385e-24	1	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88257795	88257795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:88257795C>T	ENST00000357081.3	-	13	1393	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.E255K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E377K|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E429K			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	417					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTTAGATCTTCTATTGTTCGT	0.299000													28	12					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33834679	33834679	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr20:33834679G>T	ENST00000246186.6	+	2	368	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	95					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTTCCCTATGACTCACGGGC	0.527000													41	61					9.84934e-19	1.15633e-18	1	1	0
PTAR1	375743	broad.mit.edu	37	9	72333403	72333403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:72333403C>T	ENST00000377200.5	-	5	910	c.908G>A	c.(907-909)cGc>cAc	p.R303H	PTAR1_ENST00000340434.4_Missense_Mutation_p.R355H			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	355					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						CCGCTTCAGGCGTTTGGTTTC	0.527000													27	7					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101312009	101312009	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:101312009G>A	ENST00000369162.2	-	3	516	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	ASCC3_ENST00000369143.2_Silent_p.L58L|ASCC3_ENST00000522650.1_Silent_p.L58L	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTCTTCTCCAGTTTTTCATTC	0.269000													48	82					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82074823	82074823	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:82074823G>C	ENST00000395578.1	-	7	1081	c.965C>G	c.(964-966)aCc>aGc	p.T322S	PRKG2_ENST00000264399.1_Missense_Mutation_p.T322S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.T322S|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	322					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATGAAAAAGGTACTTCCTTC	0.343000													27	69					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37948733	37948733	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:37948733G>A	ENST00000357972.5	+	7	1270	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.E242K|SYTL5_ENST00000456733.2_Missense_Mutation_p.E242K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	242					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAATGACCAGGAACCTGGTCC	0.517000													6	2					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587618	247587618	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:247587618G>A	ENST00000366497.2	+	4	1653	c.873G>A	c.(871-873)gtG>gtA	p.V291V	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.V291V|NLRP3_ENST00000336119.3_Silent_p.V291V|NLRP3_ENST00000348069.2_Silent_p.V291V|NLRP3_ENST00000366496.2_Silent_p.V291V|NLRP3_ENST00000391828.3_Silent_p.V291V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAAGATCGTGAGAAAACCCT	0.567000													26	46					0	0	1	0	0
SAA4	6291	broad.mit.edu	37	11	18257455	18257455	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:18257455T>A	ENST00000278222.4	-	2	199	c.19A>T	c.(19-21)Att>Ttt	p.I7F	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						CAGAAAACAATGCCTGTGAAA	0.453000													23	41					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73470135	73470135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:73470135G>A	ENST00000539919.1	+	5	510	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	CCT7_ENST00000258091.5_Missense_Mutation_p.G91S|CCT7_ENST00000540468.1_Missense_Mutation_p.G4S|CCT7_ENST00000538797.1_De_novo_Start_InFrame|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Intron	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	91					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CTTCCAGGTGGGTGATGGCAC	0.468000													56	31					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97766632	97766632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:97766632G>T	ENST00000297293.5	+	2	402	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	37					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCAGGGGAGGCGCCACCTGC	0.343000													21	54					0.00188189	0.00192371	1	1	0
EXTL2	2135	broad.mit.edu	37	1	101339905	101339905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:101339905C>G	ENST00000370114.3	-	5	2022	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	EXTL2_ENST00000370113.3_Missense_Mutation_p.E196Q|EXTL2_ENST00000535414.1_Missense_Mutation_p.E183Q	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	196					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTTGCATTTCAAAACTTCCA	0.393000													27	48					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96262089	96262089	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:96262089G>C	ENST00000272395.2	+	4	783	c.647G>C	c.(646-648)tGg>tCg	p.W216S		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	216						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CAGAGAAGTTGGGTCAAAATG	0.388000													3	1					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576284	161576284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:161576284C>T	ENST00000356592.3	+	8	1553	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	GABRG2_ENST00000361925.4_Missense_Mutation_p.P365S|GABRG2_ENST00000393933.4_Missense_Mutation_p.P270S|GABRG2_ENST00000414552.2_Missense_Mutation_p.P405S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	365					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CAACCGGAAACCAAGCAAGGA	0.368000													46	58					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049047	42049047	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:42049047G>C	ENST00000372584.1	-	3	2436	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A	HIVEP3_ENST00000429157.2_Silent_p.A474A|HIVEP3_ENST00000372583.1_Silent_p.A474A|HIVEP3_ENST00000247584.5_Silent_p.A474A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	474	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCACCACGGCCTCGTTGA	0.617000													25	38					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893854	32893854	+	RNA	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:32893854C>T	ENST00000330048.5	-	0	1403					NR_003083.2																						GGACTCACTCCCAGAACTCGA	0.622000													17	22					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634453	122634453	+	Silent	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:122634453G>T	ENST00000195173.4	-	14	2125	c.1822C>A	c.(1822-1824)Cgg>Agg	p.R608R	SEMA5B_ENST00000357599.3_Silent_p.R608R|SEMA5B_ENST00000451055.2_Silent_p.R662R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	608					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCCATCCCGTGTCACATTC	0.552000													5	12					0.014758	0.014965	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369362	22369362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:22369362C>T	ENST00000332663.2	+	1	885	c.787C>T	c.(787-789)Cca>Tca	p.P263S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418000													34	234					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360795	45360795	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:45360795G>A	ENST00000559488.1	+	3	257	c.241G>A	c.(241-243)Gag>Aag	p.E81K	ITGB3_ENST00000435993.2_Missense_Mutation_p.E34K|ITGB3_ENST00000571680.1_Missense_Mutation_p.E81K|ITGB3_ENST00000560629.1_Missense_Mutation_p.R69Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	81					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGAATCCATCGAGTTCCCAGT	0.577000													39	49					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124482883	124482883	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:124482883G>A	ENST00000284288.2	+	2	256	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	63					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CAGGGTCTCCGATCAGCTGCT	0.572000													17	16					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243024	141243024	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:141243024C>T	ENST00000389484.3	-	59	10284	c.9313G>A	c.(9313-9315)Gac>Aac	p.D3105N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3105					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCTGTGTCAGACCAATAG	0.393000										TSP Lung(27;0.18)			40	12					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156556460	156556460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:156556460C>G	ENST00000353442.5	-	6	689	c.453G>C	c.(451-453)ttG>ttC	p.L151F	LMBR1_ENST00000354505.4_Missense_Mutation_p.L151F|LMBR1_ENST00000540390.1_Missense_Mutation_p.L130F|LMBR1_ENST00000359422.4_5'UTR	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAAGCATGACCAAAGTCTCTA	0.378000													26	116					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99768080	99768080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:99768080C>A	ENST00000292377.2	-	10	1680	c.1513G>T	c.(1513-1515)Gga>Tga	p.G505*	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	505						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACTGCTGTCCCCCTCCAGAG	0.602000													7	13					0.000157383	0.000162191	1	1	0
EQTN	54586	broad.mit.edu	37	9	27284732	27284732	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:27284732C>A	ENST00000380032.3	-	8	957	c.874G>T	c.(874-876)Gtt>Ttt	p.V292F	EQTN_ENST00000537675.1_Missense_Mutation_p.V263F	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		CACCGGGTAACCGACTCATCG	0.348000													29	54					2.46105e-21	2.94395e-21	1	1	0
CACNB2	783	broad.mit.edu	37	10	18825106	18825106	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:18825106A>C	ENST00000396576.2	+	11	1619	c.1118A>C	c.(1117-1119)aAa>aCa	p.K373T	CACNB2_ENST00000377319.3_Missense_Mutation_p.K335T|CACNB2_ENST00000324631.7_Missense_Mutation_p.K428T|CACNB2_ENST00000352115.6_Missense_Mutation_p.K404T|CACNB2_ENST00000377328.1_Missense_Mutation_p.K178T|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.K374T|CACNB2_ENST00000282343.8_Missense_Mutation_p.K400T|CACNB2_ENST00000377331.2_Missense_Mutation_p.K376T|CACNB2_ENST00000377315.4_Missense_Mutation_p.K380T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	428					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGCTGATAAACTGGCTCAG	0.333000													20	23					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451495	55451495	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:55451495C>A	ENST00000588756.1	-	6	1178	c.692G>T	c.(691-693)tGg>tTg	p.W231L	NLRP7_ENST00000340844.2_Missense_Mutation_p.W231L|NLRP7_ENST00000448121.2_Missense_Mutation_p.W231L|NLRP7_ENST00000446217.1_Missense_Mutation_p.W259L|NLRP7_ENST00000328092.5_Missense_Mutation_p.W231L|NLRP7_ENST00000592784.1_Missense_Mutation_p.W231L|NLRP7_ENST00000590030.1_Missense_Mutation_p.W231L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	231	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)		CAATTCAGGCCAGTCTTTGGA	0.567000													37	63					6.90743e-12	7.69859e-12	1	1	0
EVC	2121	broad.mit.edu	37	4	5743500	5743500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:5743500G>A	ENST00000382674.2	+	6	944	c.760G>A	c.(760-762)Gat>Aat	p.D254N	EVC_ENST00000509451.1_Missense_Mutation_p.D254N|EVC_ENST00000264956.6_Missense_Mutation_p.D254N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	254					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAAGAAGTCAGATGATGAACT	0.279000													9	46					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452269	43452269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:43452269G>T	ENST00000282388.3	-	2	967	c.674C>A	c.(673-675)cCg>cAg	p.P225Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	225					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gccccccgacggcgcgggccg	0.701000													4	7					1.23904e-05	1.29269e-05	1	1	0
SGPL1	8879	broad.mit.edu	37	10	72633206	72633206	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:72633206C>G	ENST00000373202.3	+	12	1358	c.1158C>G	c.(1156-1158)atC>atG	p.I386M		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	386					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AGGGTGGCATCTATGCTTCCC	0.512000													57	79					0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125335562	125335562	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr8:125335562C>G	ENST00000297632.6	-	4	1006	c.472G>C	c.(472-474)Gct>Cct	p.A158P		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	158						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTTAAATACCTGCCATAGTT	0.264000													17	52					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742896	51742896	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:51742896C>T	ENST00000262262.4	+	7	1069	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.P223S	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	350					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGGGATGAATCCTTCCAAGGA	0.532000													24	28					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747763	156747763	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:156747763T>C	ENST00000347377.6	+	15	2055	c.1624T>C	c.(1624-1626)Ttt>Ctt	p.F542L	CYFIP2_ENST00000318218.6_Missense_Mutation_p.F542L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.F467L|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F542L|CYFIP2_ENST00000521420.1_Missense_Mutation_p.F516L|CYFIP2_ENST00000522463.1_Missense_Mutation_p.F346L|CYFIP2_ENST00000435847.2_Missense_Mutation_p.F216L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	542					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAAGGTGGATTTGATATCAA	0.612000													14	7					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542506	32542506	+	Missense_Mutation	SNP	G	G	T	rs140126403		TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:32542506G>T	ENST00000360538.2	-	3	2133	c.2017C>A	c.(2017-2019)Cgt>Agt	p.R673S	TOPORS_ENST00000379858.1_Missense_Mutation_p.R608S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	673	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.R673S(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCACTGCTACGAGACCTTGAT	0.378000													55	94					8.28887e-21	9.8919e-21	1	1	0
DLST	1743	broad.mit.edu	37	14	75365129	75365129	+	Silent	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:75365129C>G	ENST00000334220.4	+	11	889	c.828C>G	c.(826-828)ctC>ctG	p.L276L	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Silent_p.L190L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	276					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AACATAACCTCAAACTAGGCT	0.453000													24	34					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159301	23159301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:23159301C>G	ENST00000594710.1	-	4	983	c.838G>C	c.(838-840)Gga>Cga	p.G280R		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GGTTTCTCTCCAGCATGACTT	0.418000													30	41					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14741346	14741346	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:14741346C>A	ENST00000403951.2	-	7	895	c.476G>T	c.(475-477)cGc>cTc	p.R159L	DGKB_ENST00000444700.2_Missense_Mutation_p.R152L|DGKB_ENST00000402815.1_Missense_Mutation_p.R159L|DGKB_ENST00000407950.1_Missense_Mutation_p.R152L|DGKB_ENST00000406247.3_Missense_Mutation_p.R159L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.R159L|DGKB_ENST00000258767.5_Missense_Mutation_p.R159L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	159	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTCATAAAGGCGAAACATAAC	0.318000													7	6					8.12818e-05	8.42799e-05	1	1	0
CFH	3075	broad.mit.edu	37	1	196646771	196646771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:196646771G>A	ENST00000367429.4	+	5	833	c.593G>A	c.(592-594)tGg>tAg	p.W198*	CFH_ENST00000439155.2_Nonsense_Mutation_p.W198*|CFH_ENST00000359637.2_Intron	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	198	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATGGTTTTTGGAGTAAAGAG	0.338000													36	71					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807550	3807550	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:3807550C>T	ENST00000361605.3	-	3	299	c.201G>A	c.(199-201)gtG>gtA	p.V67V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	67										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ATTCTGACTTCACAAGATGTC	0.448000													39	57					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48259851	48259851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:48259851G>A	ENST00000246802.5	+	11	1401	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	455				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CGAGCCTCGAGAGAGAGCCAA	0.617000													12	22					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543681	29543681	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:29543681C>T	ENST00000389048.3	-	7	2388	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	494	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTGGGGTGACAGTGTGCCTT	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				37	60					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371474	240371474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:240371474C>T	ENST00000319653.9	+	5	3592	c.3362C>T	c.(3361-3363)cCt>cTt	p.P1121L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1121	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCTCCCCCTCTA	0.716000													8	12					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113140944	113140944	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr11:113140944G>A	ENST00000316851.7	+	16	2136	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G	NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	722					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAGCACCGGGGCCATCGTGG	0.587000													35	74					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992088	85992088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:85992088C>A	ENST00000372105.3	-	4	1488	c.1467G>T	c.(1465-1467)ttG>ttT	p.L489F		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	489	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGGTCTTGGGCAACAGCCCAG	0.572000													8	10					0.000442599	0.000455194	1	1	0
TBL1XR1	79718	broad.mit.edu	37	3	176771707	176771707	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:176771707C>T	ENST00000430069.1	-	4	318		c.e4-1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGAGAAAATCCTAAAAACAAA	0.373000													9	16					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777996	110777996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr6:110777996C>T	ENST00000368919.3	-	2	344	c.278G>A	c.(277-279)gGt>gAt	p.G93D	SLC22A16_ENST00000456137.2_Missense_Mutation_p.G93D|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G59D|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G93D|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	93					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCAGATCTCACCATTCTGCAA	0.468000													43	61					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535051	50535051	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:50535051A>G	ENST00000267845.3	-	12	1797	c.1395T>C	c.(1393-1395)aaT>aaC	p.N465N	HDC_ENST00000543581.1_Silent_p.N432N	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	465					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTCGAATGAGATTCCAGTCTC	0.527000													30	29					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222471	140222471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:140222471C>T	ENST00000531613.1	+	1	1565	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P522L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGCAGCCGCTGGACCAC	0.677000													62	92					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627071	40627071	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:40627071G>A	ENST00000372771.4	+	0	27					NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion						chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCCGTGGGAAGATGGCGGACG	0.716000													7	3					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662819	662819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:662819G>A	ENST00000266383.5	+	14	1743	c.1730G>A	c.(1729-1731)aGg>aAg	p.R577K		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	577						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.R577M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CGGGGTGACAGGATGCGGCCT	0.667000													15	21					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202822	28202822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:28202822G>A	ENST00000354638.3	-	16	1851	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	OCA2_ENST00000382996.2_Missense_Mutation_p.R566C|OCA2_ENST00000353809.5_Missense_Mutation_p.R542C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	566					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCTCCTCGCGGCTGGCCGGG	0.657000									Oculocutaneous Albinism				11	16					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114860811	114860811	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:114860811C>T	ENST00000374270.3	-	10	1585	c.1413G>A	c.(1411-1413)gtG>gtA	p.V471V	SUSD1_ENST00000374264.2_Silent_p.V471V|SUSD1_ENST00000374263.3_Silent_p.V471V	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	471						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCAGCAGGGTCACATTCACCG	0.463000													50	20					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1225653	1225653	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:1225653T>A	ENST00000324642.3	+	1	184	c.61T>A	c.(61-63)Tgg>Agg	p.W21R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.W21R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	21					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)			GAGGCCCAAGTGGGACAACAA	0.642000													4	20					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80663912	80663912	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:80663912T>A	ENST00000458043.2	+	22	2475	c.2469T>A	c.(2467-2469)gaT>gaA	p.D823E	OTOGL_ENST00000547103.1_Missense_Mutation_p.D823E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAAATGTGATGAATTAGCAA	0.383000											OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775789	77775789	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr16:77775789T>A	ENST00000268533.5	+	4	728	c.659T>A	c.(658-660)tTa>tAa	p.L220*	RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Nonsense_Mutation_p.L167*|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	220					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.L220S(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AATGATGTATTAGCATCCTCT	0.378000													34	8					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12493088	12493088	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:12493088A>C	ENST00000409402.4	-	8	1439	c.1172T>G	c.(1171-1173)aTt>aGt	p.I391S	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.I391S|SPIRE1_ENST00000453447.2_Missense_Mutation_p.I271S|SPIRE1_ENST00000383356.2_Missense_Mutation_p.I232S|SPIRE1_ENST00000309836.5_Missense_Mutation_p.I194S	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	391						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GCTACGTCTAATCTCCTCTGG	0.463000													9	34					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54069088	54069088	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chrX:54069088A>T	ENST00000338154.6	-	2	578	c.74T>A	c.(73-75)aTg>aAg	p.M25K	PHF8_ENST00000462182.1_5'UTR|PHF8_ENST00000338946.6_Missense_Mutation_p.M25K|PHF8_ENST00000357988.5_Missense_Mutation_p.M61K|PHF8_ENST00000322659.8_Missense_Mutation_p.M25K	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	61					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCCTGGCACATGTCACACTC	0.602000											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	2					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928051	196928051	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:196928051C>T	ENST00000367415.5	+	5	754	c.654C>T	c.(652-654)aaC>aaT	p.N218N	CFHR2_ENST00000476712.2_Silent_p.N202N|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.N218N	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAAAATATAACATAAAATTAA	0.274000													22	40					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091789	29091789	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:29091789A>T	ENST00000544772.1	-	12	1941	c.505T>A	c.(505-507)Tac>Aac	p.Y169N	CHEK2_ENST00000403642.1_Missense_Mutation_p.Y299N|CHEK2_ENST00000328354.6_Missense_Mutation_p.Y390N|CHEK2_ENST00000405598.1_Missense_Mutation_p.Y390N|CHEK2_ENST00000404276.1_Missense_Mutation_p.Y390N|CHEK2_ENST00000402731.1_Missense_Mutation_p.Y361N|CHEK2_ENST00000382580.2_Missense_Mutation_p.Y433N|CHEK2_ENST00000348295.3_Missense_Mutation_p.Y361N|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.Y299N	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	390	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCGCCAAGTAGGTGGGGGTT	0.428000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					56	34					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625297	54625297	+	Silent	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:54625297G>C	ENST00000321030.4	+	4	646	c.297G>C	c.(295-297)ctG>ctC	p.L99L	PRPF31_ENST00000391755.1_Silent_p.L99L|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.L99L	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	99					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAACAACCTGACCGTGGAGA	0.617000													4	12					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654036	46654036	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:46654036G>A	ENST00000253255.5	-	1	5183	c.5184C>T	c.(5182-5184)atC>atT	p.I1728I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1728					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAGTAAGACGATAAGGATCA	0.383000													32	81					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139285	158139285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:158139285G>A	ENST00000313708.6	-	14	1708	c.1426C>T	c.(1426-1428)Ccc>Tcc	p.P476S	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P445S|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	476	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTGCTGGGGAGTGGTGCTC	0.602000			T	HMGA2	lipoma								9	11					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915126	46915126	+	Silent	SNP	C	C	T	rs144216984	byFrequency	TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:46915126C>T	ENST00000307522.3	-	1	1715	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	314						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)		TACCTGCAGCCCCTTCCCGCT	0.622000													45	80					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14881946	14881946	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:14881946G>C	ENST00000378372.3	+	2	339	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	HSPA14_ENST00000437161.2_Missense_Mutation_p.V34L|HSPA14_ENST00000493863.1_3'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	34					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CGGTGACCGAGTTACTCCAGC	0.388000													40	76					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509678	228509678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:228509678G>A	ENST00000570156.2	+	66	18081	c.18007G>A	c.(18007-18009)Gcg>Acg	p.A6003T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2680T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2165T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A5046T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A5046T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5046	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGAGCCCGCGGACTGGCA	0.597000													10	6					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92846350	92846350	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:92846350C>T	ENST00000610020.1	+	12	1867	c.1758C>T	c.(1756-1758)acC>acT	p.T586T		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCTAGACACCCTCCTTGAAG	0.368000													57	82					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008052	186008052	+	Silent	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:186008052C>A	ENST00000271588.4	+	38	6172	c.5943C>A	c.(5941-5943)gcC>gcA	p.A1981A	HMCN1_ENST00000367492.2_Silent_p.A1981A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1981	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAAAGTGCCCAGATCTCAG	0.413000													54	47					9.40368e-32	1.16911e-31	1	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202436664	202436664	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:202436664G>A	ENST00000439140.1	-	8	877	c.833C>T	c.(832-834)aCa>aTa	p.T278I	ALS2CR11_ENST00000450242.1_Splice_Site_p.T278I|ALS2CR11_ENST00000286195.3_Splice_Site_p.T278I|ALS2CR11_ENST00000439802.1_Splice_Site_p.T278I	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	278										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAACACTTACGTCACGGGATC	0.353000													22	8					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5966785	5966785	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr4:5966785C>A	ENST00000531445.1	-	6	2013	c.1967G>T	c.(1966-1968)tGg>tTg	p.W656L	C4orf50_ENST00000324058.5_Missense_Mutation_p.W182L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	182										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGTGCTGGCCACTCCGGCTC	0.468000													27	31					1.42536e-11	1.58512e-11	1	1	0
OXER1	165140	broad.mit.edu	37	2	42990265	42990265	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:42990265G>T	ENST00000378661.2	-	1	1136	c.1055C>A	c.(1054-1056)cCc>cAc	p.P352H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	352					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GTAGAGCACGGGGTCCAGGAC	0.652000													10	14					6.40141e-05	6.65116e-05	1	1	0
B4GALNT3	283358	broad.mit.edu	37	12	661328	661328	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:661328C>T	ENST00000266383.5	+	12	1220	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	403						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTACCAAGACCGGTGAGAGAC	0.562000													20	18					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713227	138713227	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr9:138713227C>T	ENST00000389532.4	-	11	3344	c.3280G>A	c.(3280-3282)Ggt>Agt	p.G1094S	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G816S|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1105S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1094						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGGCCTTGACCCAGCCGGGGG	0.622000													19	4					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578609	44578609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:44578609G>A	ENST00000289547.4	-	2	1442	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R463C|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R463C|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R463C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	463					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGATGTTGCGCTGTGCTTCG	0.577000													16	4					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29442753	29442753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr22:29442753G>A	ENST00000544604.2	+	6	969	c.794G>A	c.(793-795)aGa>aAa	p.R265K	ZNRF3_ENST00000406323.3_Missense_Mutation_p.R165K|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R165K|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R165K	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	265						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ATGGAAACCAGAAAGTTCAAC	0.572000													48	133					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933259	49933259	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr3:49933259C>A	ENST00000296474.3	-	12	2878	c.2851G>T	c.(2851-2853)Gat>Tat	p.D951Y	MST1R_ENST00000344206.4_Missense_Mutation_p.D902Y	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	951					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGGACCCCATCTGGCCCTGGC	0.627000													11	3					0.000151284	0.000156224	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365286	35365286	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:35365286G>T	ENST00000373347.1	-	5	1638	c.1370C>A	c.(1369-1371)tCc>tAc	p.S457Y	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S457Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	457					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGTGGTGAGGGAACGGCTGTA	0.562000													47	51					2.76378e-25	3.37796e-25	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50280507	50280507	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:50280507G>C	ENST00000404971.1	-	22	5489	c.4150C>G	c.(4150-4152)Caa>Gaa	p.Q1384E	NRXN1_ENST00000401710.1_Missense_Mutation_p.Q332E|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1336E|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1336E|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1344E|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q1314E|NRXN1_ENST00000342183.5_Missense_Mutation_p.Q279E|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1314E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1314					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCTCTGATTGCATGGCAGTG	0.512000													114	68					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55266489	55266489	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr7:55266489G>A	ENST00000275493.2	+	23	2958	c.2781G>A	c.(2779-2781)ctG>ctA	p.L927L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.L874L|EGFR_ENST00000455089.1_Silent_p.L882L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	927	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			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)	CCTCCATCCTGGAGAAAGGAG	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			31	11					0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121259693	121259693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr10:121259693C>T	ENST00000392865.1	-	5	498	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	RGS10_ENST00000369103.2_Missense_Mutation_p.E160K|RGS10_ENST00000369101.3_Missense_Mutation_p.E152K|RGS10_ENST00000469575.1_5'UTR	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	152	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TCTTCCTCTTCCTCGGTTCGC	0.418000													48	55					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30823979	30823979	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr12:30823979G>T	ENST00000256079.4	-	9	1299	c.961C>A	c.(961-963)Cgt>Agt	p.R321S	IPO8_ENST00000544829.1_Missense_Mutation_p.R116S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	321					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R321S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAGAACACGGGGAGCTACA	0.363000													56	85					3.7469e-33	4.66978e-33	1	1	0
DYNC1I2	1781	broad.mit.edu	37	2	172602338	172602338	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr2:172602338G>T	ENST00000534253.2	+	17	1872	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.E568D|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.E542D|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.E568D|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.E568D|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.E560D|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.E562D|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.E562D|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.E560D|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.E542D|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.E542D			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	568					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TTTCTGTGGAGGGTAATCCTG	0.393000													67	22					2.0493e-37	2.56036e-37	1	1	0
PRIMA1	145270	broad.mit.edu	37	14	94187868	94187868	+	Silent	SNP	A	A	G			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:94187868A>G	ENST00000393140.1	-	5	486	c.384T>C	c.(382-384)aaT>aaC	p.N128N	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N128N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	128					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CGCTGGTGCCATTTTCGTCTT	0.557000													17	22					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14537799	14537799	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr18:14537799C>T	ENST00000358970.5	-	3	810		c.e3+1		POTEC_ENST00000389891.4_Splice_Site	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C											NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TAGATCTATACCTTGTTTTTT	0.358000													11	28					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752176	247752176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:247752176G>A	ENST00000320065.1	+	1	515	c.515G>A	c.(514-516)tGt>tAt	p.C172Y	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGCCCTTCTGTGGGCATCGC	0.552000													47	46					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	307409	307409	+	Silent	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr19:307409C>T	ENST00000264819.4	-	13	1336	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GCCGATGGGACAGGGGTACAG	0.687000													4	5					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141305009	141305009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr5:141305009C>T	ENST00000432126.2	+	3	315	c.181C>T	c.(181-183)Cca>Tca	p.P61S	KIAA0141_ENST00000194118.4_Missense_Mutation_p.P61S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	61					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGGGGTCCAAGGTCCCA	0.582000													10	60					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20916184	20916184	+	Silent	SNP	G	G	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr17:20916184G>A	ENST00000261497.4	-	7	1106	c.903C>T	c.(901-903)ttC>ttT	p.F301F	USP22_ENST00000537526.2_Silent_p.F289F|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	301					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACCCGCCTGTGAAGATCTGGT	0.552000													36	49					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342	by1000genomes	TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													7	155	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					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	p.P6fs*27(2)		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)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	6	---	---	---	---					
KIAA0586	9786	broad.mit.edu	37	14	59006827	59006827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr14:59006827delA	ENST00000423743.3	+	31	4594	c.4336delA	c.(4336-4338)aatfs	p.N1446fs	KIAA0586_ENST00000556134.1_Frame_Shift_Del_p.N1475fs|KIAA0586_ENST00000261244.5_Frame_Shift_Del_p.N1414fs|KIAA0586_ENST00000354386.6_Frame_Shift_Del_p.N1543fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1414										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AATTGAGCTTAATCCGTACCT	0.308													2	4	---	---	---	---					
SLC12A6	9990	broad.mit.edu	37	15	34628662	34628663	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:34628662_34628663insA	ENST00000354181.3	-	2	711_712	c.219_220insT	c.(217-222)gttgcafs	p.A74fs	SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.A65fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.A74fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.A74fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.A15fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.A15fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.A74fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	74					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGATCCAGTGCAACAGTTGCCA	0.530													16	28	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81558013	81558013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA77-01A-11D-A391-08	TCGA-DK-AA77-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5675541a-3c3e-4555-87f3-aa17ac4dc19f	42ba974f-6498-47cd-a5ce-c44d57c41845	g.chr15:81558013delT	ENST00000394660.2	+	4	795	c.435delT	c.(433-435)tatfs	p.Y145fs	IL16_ENST00000302987.4_Frame_Shift_Del_p.Y145fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	145					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTAATCCCTATTGCACAAGAG	0.428											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	45	---	---	---	---