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
GPR153	387509	broad.mit.edu	37	1	6311445	6311445	+	Missense_Mutation	SNP	C	C	T	rs139457263		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:6311445C>T	uc001amp.2	-	3	1192	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCACTTCTCCCGGACAGCTTT	0.637												
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365												
DMBX1	127343	broad.mit.edu	37	1	46976764	46976764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:46976764G>A	uc001cpx.3	+	2	521	c.506G>A	c.(505-507)cGt>cAt	p.R169H	DMBX1_uc001cpw.3_Missense_Mutation_p.R164H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	169					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R169H(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCCCCACGTCTGCCTGGC	0.652												
TCHH	7062	broad.mit.edu	37	1	152081245	152081245	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:152081245C>T	uc009wne.1	-	2	4720	c.4448G>A	c.(4447-4449)cGt>cAt	p.R1483H	TCHH_uc001ezp.2_Missense_Mutation_p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1483	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCACGCTCTTGGCG	0.557												
F5	2153	broad.mit.edu	37	1	169509611	169509611	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:169509611G>A	uc001ggg.1	-	12	4862	c.4717C>T	c.(4717-4719)Cgc>Tgc	p.R1573C		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1573	B.	Cleavage; by thrombin.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGTTGCTGCGGAGGTACCAT	0.398												
IPO9	55705	broad.mit.edu	37	1	201823997	201823997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:201823997C>T	uc001gwz.3	+	7	907	c.857C>T	c.(856-858)tCc>tTc	p.S286F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	286					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGGTGTCCTCCATGCAGCAG	0.403												
ADARB2	105	broad.mit.edu	37	10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:1284215G>A	uc009xhq.3	-	4	1666	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	447	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701												
PFKFB3	5209	broad.mit.edu	37	10	6265943	6265943	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:6265943C>T	uc001ije.3	+	11	1620	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	PFKFB3_uc001ijd.3_Silent_p.C392C|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.C426C|PFKFB3_uc001ijf.3_Silent_p.C412C|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	412	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.C412C(3)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCTGAAATGCCCTCTTCACA	0.547												
PTEN	5728	broad.mit.edu	37	10	89711993	89711993	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:89711993C>T	uc001kfb.3	+	5	1643	c.611C>T	c.(610-612)cCa>cTa	p.P204L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	204	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.P204fs*17(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.P204S(1)|p.I203fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACTATTCCAATGTTCAGT	0.358		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
DCLRE1A	9937	broad.mit.edu	37	10	115610208	115610208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:115610208T>C	uc001law.2	-	1	1574	c.656A>G	c.(655-657)cAa>cGa	p.Q219R		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	219					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTATCAGTTTGGTTCTGATA	0.433								Other identified genes with known or suspected DNA repair function				
METTL12	751071	broad.mit.edu	37	11	62434124	62434124	+	Silent	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr11:62434124T>C	uc001nug.1	+	2	583	c.324T>C	c.(322-324)ttT>ttC	p.F108F	C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_Non-coding_Transcript	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.	108						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGTGGACTTTTCTCCTGTGG	0.592												
AICDA	57379	broad.mit.edu	37	12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:8758006C>T	uc001qur.2	-	2	311	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	78					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617												
AGAP2	116986	broad.mit.edu	37	12	58120988	58120988	+	Silent	SNP	G	G	A	rs145154021		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:58120988G>A	uc001spq.3	-	17	3105	c.3105C>T	c.(3103-3105)cgC>cgT	p.R1035R	AGAP2_uc001spp.3_Silent_p.R1034R|AGAP2_uc001spr.3_Silent_p.R679R|LOC100130776_uc001sps.4_Silent_p.A71A	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1035	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGTACTTGGCGCGAATCCACG	0.677											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:62785633_62785634insA	uc001src.2	+	16	2346_2347	c.2271_2272insA	c.(2269-2274)ttgaaafs	p.L757fs	USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	757					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277												
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259												
ZFHX3	463	broad.mit.edu	37	16	72832031	72832031	+	Missense_Mutation	SNP	G	G	A	rs144091993	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:72832031G>A	uc002fck.3	-	8	5223	c.4550C>T	c.(4549-4551)tCg>tTg	p.S1517L	ZFHX3_uc002fcl.3_Missense_Mutation_p.S603L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1517					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S1517S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGAGCCCGAGTCTTCTTG	0.483												
GEMIN4	50628	broad.mit.edu	37	17	649261	649261	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:649261G>T	uc002frs.1	-	1	2141	c.2022C>A	c.(2020-2022)ttC>ttA	p.F674L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	674					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGTCTGGATGAAGATCCTCA	0.537												
DNAH2	146754	broad.mit.edu	37	17	7702526	7702526	+	Missense_Mutation	SNP	G	G	A	rs147918283		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:7702526G>A	uc002giu.1	+	54	8679	c.8665G>A	c.(8665-8667)Gtg>Atg	p.V2889M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2889	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGCACATCGTGCTCTGCCT	0.597												
WNK4	65266	broad.mit.edu	37	17	40945618	40945618	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:40945618C>T	uc002ibj.3	+	11	2234	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N	WNK4_uc010wgx.2_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	722					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGTATATAACGAGTTCATTC	0.532												
TUBB4A	10382	broad.mit.edu	37	19	6495886	6495886	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:6495886G>A	uc002mfg.1	-	3	731	c.624C>T	c.(622-624)taC>taT	p.Y208Y	TUBB4A_uc002mff.1_Silent_p.Y136Y|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	208					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										AACAGATGTCGTAGAGTGCCT	0.612												
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495												
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358												
ABCG5	64240	broad.mit.edu	37	2	44065792	44065792	+	Silent	SNP	G	G	A	rs72542428		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:44065792G>A	uc002rtn.3	-	0	167	c.27C>T	c.(25-27)ccC>ccT	p.P9P	ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	9					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGACCCTCCGGGGGTCAAAG	0.637												
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483												
SPTBN1	6711	broad.mit.edu	37	2	54856719	54856719	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54856719G>A	uc002rxu.3	+	13	2697	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.3_Silent_p.E803E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	816					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCATGCCGAGTCTCCAGACG	0.627												
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308												
GTDC1	79712	broad.mit.edu	37	2	144899603	144899603	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:144899603C>T	uc002tvp.3	-	5	646	c.367G>A	c.(367-369)Gta>Ata	p.V123I	GTDC1_uc002tvo.3_Missense_Mutation_p.V123I|GTDC1_uc021vqf.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.3_Missense_Mutation_p.V123I|GTDC1_uc002tvs.3_Missense_Mutation_p.V91I|GTDC1_uc021vqg.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.3_Missense_Mutation_p.V123I|GTDC1_uc010fno.3_5'UTR|GTDC1_uc002tvt.2_Missense_Mutation_p.V123I	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	123					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGTTGAATACAACCACATCA	0.383												
GALNT3	2591	broad.mit.edu	37	2	166627133	166627133	+	Silent	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:166627133T>C	uc010fph.1	-	1	465	c.78A>G	c.(76-78)gtA>gtG	p.V26V	GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	26					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGAAAAAAATTACTGCACCAA	0.313												
TLK1	9874	broad.mit.edu	37	2	171902709	171902710	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:171902709_171902710insGG	uc002ugo.2	-	11	1678_1679	c.1206_1207insCC	c.(1204-1209)ccctttfs	p.P402fs	TLK1_uc002ugn.2_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	381					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGTCTAACAAAGGGATCATTCT	0.366												
KIF16B	55614	broad.mit.edu	37	20	16337074	16337074	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:16337074G>A	uc002wpg.2	-	22	3681	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Silent_p.G1123G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1174					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			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						CTGGATTTGCGCCCAAAGAGC	0.493												
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358												
PARD6B	84612	broad.mit.edu	37	20	49366651	49366651	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:49366651G>A	uc002xvo.3	+	2	988	c.745G>A	c.(745-747)Gca>Aca	p.A249T		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	249	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGTGAGACCGGCAAACCAGAG	0.448												
ITGB2	3689	broad.mit.edu	37	21	46311847	46311847	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:46311847G>A	uc002zgd.2	-	9	1333	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	ITGB2_uc002zgf.3_Missense_Mutation_p.A430V|ITGB2_uc011afl.1_Missense_Mutation_p.A352V|ITGB2_uc010gpw.2_Missense_Mutation_p.A373V|ITGB2_uc002zgg.2_Missense_Mutation_p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	430					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGCCCAGCGCCCGGATGAC	0.642												
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577												
CAMK1	8536	broad.mit.edu	37	3	9799491	9799491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:9799491T>A	uc003bst.3	-	10	1137	c.952A>T	c.(952-954)Aaa>Taa	p.K318*	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.K92*|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	318					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCTGCAGTTTCCTCATGTGC	0.612												
VHL	7428	broad.mit.edu	37	3	10183867	10183867	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:10183867C>T	uc003bvc.3	+	0	549	c.336C>T	c.(334-336)taC>taT	p.Y112Y	VHL_uc003bvd.3_Silent_p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S111N(5)|p.Y112*(4)|p.Y112fs*1(4)|p.S111R(3)|p.S111S(2)|p.S111fs*48(2)|p.I109_R113del(2)|p.S111fs*45(2)|p.S111G(2)|p.S111I(2)|p.S111_Y112del(2)|p.S111fs*49(1)|p.?(1)|p.Y112D(1)|p.S111fs*22(1)|p.R113fs*46(1)|p.H110_S111del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia			
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:98188932C>T	uc003dsm.3	+	0	512	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(2)|p.G170A(1)|p.S171T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398												
FSTL1	11167	broad.mit.edu	37	3	120123732	120123732	+	Silent	SNP	C	C	T	rs138829728	by1000genomes	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:120123732C>T	uc003eds.3	-	6	724	c.549G>A	c.(547-549)acG>acA	p.T183T	FSTL1_uc011bjh.2_Silent_p.T148T	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	183					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGTCTGGATACGTTGTAATAT	0.448												
IGSF10	285313	broad.mit.edu	37	3	151166049	151166049	+	Missense_Mutation	SNP	C	C	T	rs116716539	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:151166049C>T	uc011bod.2	-	3	1720	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	574	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATAGGCTTCGACCAAAGGT	0.413												
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368												
UGT2B7	7364	broad.mit.edu	37	4	69973993	69973993	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:69973993G>A	uc003heg.4	+	4	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	421					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACACAATGTCGAGTACAGACT	0.423												
TRPC3	7222	broad.mit.edu	37	4	122833104	122833104	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:122833104G>C	uc003ieg.2	-	4	1560	c.1486C>G	c.(1486-1488)Ccc>Gcc	p.P496A	TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	411					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATCTGTTTGGGATAGTCAGTA	0.423												
TBC1D9	23158	broad.mit.edu	37	4	141600954	141600954	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:141600954T>A	uc010ioj.3	-	3	676	c.404A>T	c.(403-405)gAt>gTt	p.D135V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	135						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTGTCATCATCTTCCTTTAC	0.368												
TERT	7015	broad.mit.edu	37	5	1260707	1260707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:1260707C>T	uc003jcb.1	-	11	2910	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.R103Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	951	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATGGAGGTCCGGGCATAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis			
ZNF366	167465	broad.mit.edu	37	5	71752388	71752388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:71752388C>T	uc003kce.1	-	2	1553	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGAACTCCCGCCCACAAAT	0.527												
GABRB2	2561	broad.mit.edu	37	5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	rs140795978		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:160753407G>A	uc003lys.1	-	9	1377	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ttggtagtccgtctagttggg	0.383												
PKHD1	5314	broad.mit.edu	37	6	51941108	51941108	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:51941108G>A	uc003pah.1	-	5	690	c.414C>T	c.(412-414)atC>atT	p.I138I	PKHD1_uc003pai.3_Silent_p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	138	IPT/TIG 2.				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)					CTTGGTGAACGATGGGTGTCT	0.393												
KCNQ5	56479	broad.mit.edu	37	6	73843328	73843328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:73843328C>T	uc011dyh.2	+	10	1836	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	KCNQ5_uc011dyi.2_Missense_Mutation_p.R488C|KCNQ5_uc010kat.3_Missense_Mutation_p.R469C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R478C|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R228C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	478					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)		GCCCTCGCTGCGCCTCAAAAG	0.512												
MACC1	346389	broad.mit.edu	37	7	20199376	20199376	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:20199376C>G	uc003sus.4	-	4	917	c.608G>C	c.(607-609)gGa>gCa	p.G203A	MACC1_uc010kug.3_Missense_Mutation_p.G203A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	203					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGGGCCCATCCAGGGCTCTG	0.473												
AMPH	273	broad.mit.edu	37	7	38471801	38471801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:38471801C>T	uc003tgu.3	-	12	1362	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	AMPH_uc003tgv.3_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.3_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	382					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W382*(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCATAGGTCCCAGGGCAATG	0.318												
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:44684936delT	uc003tln.3	+	2	392	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577												
ADCY1	107	broad.mit.edu	37	7	45717648	45717648	+	Missense_Mutation	SNP	G	G	A	rs147187783		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:45717648G>A	uc003tne.4	+	8	1804	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	596					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAAACATGTCGAACGGGAGCA	0.557												
POM121L12	285877	broad.mit.edu	37	7	53103406	53103406	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:53103406C>T	uc003tpz.3	+	0	58	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	14										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCGGGAACTTCTGGAAGG	0.706												
FKBP6	8468	broad.mit.edu	37	7	72744235	72744235	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:72744235C>T	uc003tya.2	+	3	480	c.348C>T	c.(346-348)taC>taT	p.Y116Y	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	116	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AACCGAACTACGCCTATGGAA	0.537												
MUC17	140453	broad.mit.edu	37	7	100680821	100680821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100680821C>T	uc003uxp.1	+	2	6177	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2042	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.R2042W(2)|p.E2041K(1)|p.R2042L(1)		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)					TCCTAGTGAACGGACCACTCC	0.502												
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100684307_100684308insCTC	uc003uxp.1	+	2	9663_9664	c.9610_9611insCTC	c.(9610-9612)tct>tCTCct	p.3204_3205insP	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3204	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)					AGCCACTTCATCTACAACTGCT	0.500												
PIK3CG	5294	broad.mit.edu	37	7	106508855	106508855	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:106508855C>T	uc003vdv.4	+	1	934	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_uc003vdu.3_Silent_p.G283G|PIK3CG_uc003vdw.3_Silent_p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	283					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G283G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGGGCGAAACGCCCA	0.552												
PTDSS1	9791	broad.mit.edu	37	8	97345772	97345772	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr8:97345772C>G	uc003yht.1	+	12	1502	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	467					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCAAAAGTCACCAATGGCGTT	0.473											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACTL7B	10880	broad.mit.edu	37	9	111617172	111617172	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:111617172T>C	uc004bdi.3	-	0	1104	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	347						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCATCCAGCATAGTGCAGCCG	0.682												
ZNF618	114991	broad.mit.edu	37	9	116798608	116798608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:116798608delC	uc004bid.3	+	12	1296	c.1197delC	c.(1195-1197)atcfs	p.I399fs	ZNF618_uc004bic.3_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.2_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.2_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.3_5'UTR	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTGTGGGATCCAGTTCCAGT	0.582												
SCAI	286205	broad.mit.edu	37	9	127781214	127781214	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:127781214A>G	uc004bpd.3	-	9	916	c.794T>C	c.(793-795)gTa>gCa	p.V265A	SCAI_uc004bpe.3_Missense_Mutation_p.V242A|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	242					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCATTTAATACCATTACAGG	0.393												
LAMC3	10319	broad.mit.edu	37	9	133943586	133943586	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:133943586C>T	uc004caa.1	+	14	2813	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	905	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCTGGCTTCTTCGACCTCC	0.667												
COL5A1	1289	broad.mit.edu	37	9	137623922	137623922	+	Silent	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:137623922A>G	uc004cfe.3	+	8	1720	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	446	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGATTGGAGGACCTCGGG	0.532												
IL3RA	3563	broad.mit.edu	37	X	1464293	1464293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:1464293delT	uc004cps.3	+	2	498	c.149delT	c.(148-150)atcfs	p.I50fs	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	50						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGACCGATATCGAGTGTGTT	0.358												
VDAC1	7416	broad.mit.edu	37	X	80185205	80185205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:80185205C>T								BRWD3 (119972 upstream) : HMGN5 (183995 downstream)																							TACGGCCTCACGTTTACAGAG	0.473												
PCDH19	57526	broad.mit.edu	37	X	99662549	99662551	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:99662549_99662551delCAG	uc010nmz.3	-	0	2721_2723	c.1045_1047delCTG	c.(1045-1047)ctgdel	p.L349del	PCDH19_uc004efw.4_In_Frame_Del_p.L349del|PCDH19_uc004efx.4_In_Frame_Del_p.L349del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	349					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTTGACTGACAGCAGGTTGATG	0.616												
TBC1D8B	54885	broad.mit.edu	37	X	106097468	106097468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:106097468G>A	uc004emo.3	+	13	2459	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	765						intracellular	calcium ion binding|Rab GTPase activator activity	p.R765H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348