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
EPHA8	2046	broad.mit.edu	37	1	22927229	22927229	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:22927229T>C	uc001bfx.1	+	13	2589	c.2464T>C	c.(2464-2466)Tgg>Cgg	p.W822R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	822	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCGACGTGTGGAGCTTCGG	0.657												
ABCD3	5825	broad.mit.edu	37	1	94965170	94965170	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:94965170G>A	uc010oto.2	+	21	1914	c.1812_splice	c.e21+1	p.A604_splice	ABCD3_uc001dqn.4_Splice_Site_p.A580_splice|ABCD3_uc010otp.2_Splice_Site_p.A507_splice|ABCD3_uc009wdr.3_Splice_Site_p.A470_splice|ABCD3_uc001dqo.4_Splice_Site_p.A268_splice	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	580	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAGAATGGCGGTAAGTATAC	0.418												
FCRL5	83416	broad.mit.edu	37	1	157490328	157490328	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:157490328G>A	uc009wsm.3	-	11	2683	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	FCRL5_uc001fqu.3_Missense_Mutation_p.A842V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	842						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTTCTGTTCGCGGTCAGCCC	0.657												
SPTA1	6708	broad.mit.edu	37	1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:158615013G>A	uc001fst.1	-	28	4358	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1387					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433												
CFH	10877	broad.mit.edu	37	1	196887346	196887346	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:196887346G>T	uc001gtp.3	+	9	1684	c.1547G>T	c.(1546-1548)tGt>tTt	p.C516F	CFH_uc021pgt.1_Missense_Mutation_p.C139F|CFH_uc009wyy.3_Missense_Mutation_p.C515F|CFH_uc001gto.3_Missense_Mutation_p.C269F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				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						TCAGATCCATGTATAATAACT	0.264												
OR2AK2	391191	broad.mit.edu	37	1	248129572	248129572	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248129572G>A	uc010pzd.2	+	0	939	c.939G>A	c.(937-939)acG>acA	p.T313T	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T313T(2)|p.T313S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGAAGTGACGGGGGCAGTGA	0.433												
OR2M1P	388762	broad.mit.edu	37	1	248285695	248285695	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248285695A>G	uc001idy.1	+	0	258	c.258A>G	c.(256-258)acA>acG	p.T86T						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TGGGCTCTACAGATGGAATCA	0.453												
ADARB2	105	broad.mit.edu	37	10	1262895	1262895	+	Missense_Mutation	SNP	C	C	T	rs142663256	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:1262895C>T	uc009xhq.3	-	6	2004	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	560	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A560T(2)		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)		CCTCACCTGGCGATCTTGTCC	0.677												
GDF10	2662	broad.mit.edu	37	10	48429388	48429388	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:48429388C>T	uc001jfb.3	-	1	926	c.498G>A	c.(496-498)ccG>ccA	p.P166P	GDF10_uc009xnp.3_Silent_p.P165P|GDF10_uc009xnq.2_Silent_p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	166					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGTGTGGGCGGGCCCAGGG	0.726												
MAT1A	4143	broad.mit.edu	37	10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:82034333C>T	uc001kbw.3	-	7	1283	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	343					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.R343Q(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557												
PTEN	5728	broad.mit.edu	37	10	89720670	89720671	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:89720670_89720671GG>CT	uc001kfb.3	+	7	1853_1854	c.821_822GG>CT	c.(820-822)tgg>tCT	p.W274S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	274	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.W274*(14)|p.R55fs*1(5)|p.W274G(3)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F273S(1)|p.G165_*404del(1)|p.W274R(1)|p.G165_K342del(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)		TTTCACTTTTGGGTAAATACAT	0.267		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)		
AFAP1L2	84632	broad.mit.edu	37	10	116062141	116062141	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:116062141C>T	uc001lbn.3	-	11	1688	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	463					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGACCCTATCGGCATCCACA	0.527												
C11orf35	256329	broad.mit.edu	37	11	556891	556891	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:556891C>T	uc001lpx.3	-	7	983	c.920G>A	c.(919-921)cGc>cAc	p.R307H	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	307										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGAAGCGCGGTGGTCCCG	0.692												
OR4A15	81328	broad.mit.edu	37	11	55135749	55135749	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55135749T>C	uc010rif.2	+	0	390	c.390T>C	c.(388-390)ttT>ttC	p.F130F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCAACTTTTTATGGATCATT	0.403												
OR5D16	390144	broad.mit.edu	37	11	55606949	55606950	+	Frame_Shift_Ins	INS	-	-	CACCT			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55606949_55606950insCACCT	uc010rio.2	+	0	722_723	c.722_723insCACCT	c.(721-723)tccfs	p.S241fs		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F240L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAGTCTTCTCCACCTGTGCCT	0.490												
OR7E5P	219445	broad.mit.edu	37	11	55747391	55747391	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55747391G>A	uc010riu.1	-	3	621	c.66C>T	c.(64-66)ctC>ctT	p.L22L						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						TGGGGGTGTCGAGGTGGGAGT	0.572												
OR8H2	390151	broad.mit.edu	37	11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55873210C>T	uc010riy.2	+	0	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373										HNSCC(53;0.14)		
ZP1	22917	broad.mit.edu	37	11	60637220	60637220	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:60637220C>G	uc001nqd.3	+	2	549	c.529C>G	c.(529-531)Cat>Gat	p.H177D	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	177					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTCTGGCCATGCCTTTCC	0.627												
FTH1	2495	broad.mit.edu	37	11	61732280	61732280	+	Silent	SNP	G	G	C	rs11554851		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:61732280G>C	uc001nsu.3	-	3	706	c.471C>G	c.(469-471)cgC>cgG	p.R157R		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	157	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTCCCATCTTGCGCAAGTTGG	0.493												
PGR	5241	broad.mit.edu	37	11	100933263	100933263	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:100933263G>T	uc001pgh.2	-	3	2870	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	709	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACTGGAGGTGTCAGGTTTTG	0.408												
CDCA3	83461	broad.mit.edu	37	12	6959664	6959664	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:6959664T>C	uc001qrg.2	-	2	345	c.217A>G	c.(217-219)Att>Gtt	p.I73V	CDCA3_uc001qre.2_Missense_Mutation_p.I73V|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	73					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GTCCGTGCAATACCAAGAGTA	0.547												
ABCC9	10060	broad.mit.edu	37	12	21960380	21960380	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21960380C>G	uc001rfh.3	-	35	4369	c.4349G>C	c.(4348-4350)aGc>aCc	p.S1450T	ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1450	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTCCAACGCTAAAATTCTC	0.433												
ABCC9	10060	broad.mit.edu	37	12	21968784	21968784	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21968784G>C	uc001rfh.3	-	31	3956	c.3936C>G	c.(3934-3936)atC>atG	p.I1312M	ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1312	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATGTATCTTGATCTCCCCTT	0.403												
ABCC9	10060	broad.mit.edu	37	12	21970190	21970190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21970190G>A	uc001rfh.3	-	30	3843	c.3823C>T	c.(3823-3825)Cag>Tag	p.Q1275*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1275					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCACCCATCTGGACCTCCAGG	0.373												
ABCC9	10060	broad.mit.edu	37	12	21981913	21981913	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21981913G>T	uc001rfh.3	-	28	3668	c.3648C>A	c.(3646-3648)aaC>aaA	p.N1216K	ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1216	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGCCATCTGTTGGCAGCTG	0.423												
OR6C6	283365	broad.mit.edu	37	12	55688288	55688288	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:55688288C>G	uc010sph.2	-	0	729	c.729G>C	c.(727-729)atG>atC	p.M243I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368												
NUP107	57122	broad.mit.edu	37	12	69115670	69115670	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:69115670G>A	uc001suf.3	+	15	1476	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	NUP107_uc001sug.3_Missense_Mutation_p.R301Q|NUP107_uc010stj.2_Missense_Mutation_p.R425Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCTACTTCCGGGTGATGGTG	0.448												
FLT3	2322	broad.mit.edu	37	13	28636174	28636174	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr13:28636174C>T	uc001urw.3	-	2	280	c.198G>A	c.(196-198)gcG>gcA	p.A66A	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.A66A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGTCTCAACGCACACCCGA	0.537			"""Mis, O"""		"""AML, ALL"""							
RNASE11	122651	broad.mit.edu	37	14	21052270	21052270	+	Missense_Mutation	SNP	G	G	A	rs144501463	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:21052270G>A	uc010ahw.3	-	2	700	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNASE11_uc010ahv.3_Missense_Mutation_p.R122C|RNASE11_uc010ahx.3_Missense_Mutation_p.R122C|RNASE11_uc001vxs.3_Missense_Mutation_p.R122C|RNASE11_uc021rnu.1_Missense_Mutation_p.R122C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R122S(2)|p.R122R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTGGAGCTGCGGATGAAGTTA	0.488												
GALNTL1	57452	broad.mit.edu	37	14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	rs61748871	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:69795188G>A	uc001xlb.2	+	5	917	c.590G>A	c.(589-591)cGt>cAt	p.R197H	GALNTL1_uc001xla.2_Missense_Mutation_p.R197H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	197	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCCGAGTGCGTGGGGCGGAC	0.632												
FBLN5	10516	broad.mit.edu	37	14	92343924	92343924	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:92343924G>A	uc010aue.3	-	10	1688	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	FBLN5_uc010aud.3_Silent_p.D369D|FBLN5_uc001xzx.4_Silent_p.D364D|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	364					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTGGAAGATGTCAGCGGGAA	0.537												
PAPOLA	10914	broad.mit.edu	37	14	96991694	96991694	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:96991694A>G	uc001yfq.3	+	3	514	c.297A>G	c.(295-297)acA>acG	p.T99T	PAPOLA_uc001yfp.3_Silent_p.T99T|PAPOLA_uc001yfo.3_Silent_p.T99T|PAPOLA_uc001yfr.3_Silent_p.T99T|PAPOLA_uc010twv.2_Silent_p.T99T|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	99					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAATTTTTACATTTGGATCTT	0.323												
KIF26A	26153	broad.mit.edu	37	14	104642036	104642036	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:104642036G>T	uc001yos.4	+	11	2911	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	971					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCTGGGGGAGGGGGCACTGA	0.701												
TUBGCP5	114791	broad.mit.edu	37	15	22868917	22868917	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:22868917A>G	uc001yuq.2	+	19	2919	c.2789A>G	c.(2788-2790)cAc>cGc	p.H930R	TUBGCP5_uc001yur.4_Missense_Mutation_p.H930R	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	930					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTAAAATTCACTATAGGTAT	0.453												
C15orf2	23742	broad.mit.edu	37	15	24922713	24922713	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:24922713T>C	uc001ywo.3	+	0	2173	c.1699T>C	c.(1699-1701)Tca>Cca	p.S567P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	567					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACCTAACCTCACAGACTGC	0.488												
RPAP1	26015	broad.mit.edu	37	15	41810311	41810311	+	Missense_Mutation	SNP	G	G	A	rs141969064		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:41810311G>A	uc001zod.3	-	22	3989	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1289						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGGGTCCGGAAGTAGAGC	0.582												
DUOX2	50506	broad.mit.edu	37	15	45387648	45387648	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:45387648A>C	uc001zun.3	-	30	4429	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R	DUOX2_uc010bea.3_Missense_Mutation_p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1409					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACACAGCATTTGGCTGCC	0.532												
ZNF263	10127	broad.mit.edu	37	16	3339694	3339694	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:3339694C>A	uc002cuq.3	+	5	1520	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	ZNF263_uc010uww.2_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	396					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAATTAGGCACCAGAGAATAC	0.478												
ATF7IP2	80063	broad.mit.edu	37	16	10525310	10525310	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:10525310A>G	uc002czw.3	+	1	992	c.833A>G	c.(832-834)aAc>aGc	p.N278S	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N278S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ACTAATAACAACAGTAAGTAT	0.313												
AQP8	343	broad.mit.edu	37	16	25232824	25232824	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:25232824G>A	uc002doc.3	+	2	389	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	103					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CATGCTGATCGGAGGCCTCAA	0.627												
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577114C>T	uc002gim.2	-	7	1018	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552		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)		
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577610T>C	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).		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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		AGAGCCAACCTAGGAGATAAC	0.522		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)		
CCDC42	146849	broad.mit.edu	37	17	8644917	8644917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:8644917G>A	uc002gln.3	-	3	594	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CCDC42_uc002glo.3_Nonsense_Mutation_p.Q123*	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	123										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTCAGCTCCTGCATGTGCTGG	0.602												
DNAH9	1770	broad.mit.edu	37	17	11568211	11568211	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:11568211C>A	uc002gne.3	+	14	2725	c.2657C>A	c.(2656-2658)tCt>tAt	p.S886Y	DNAH9_uc010coo.3_Missense_Mutation_p.S180Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	886	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGTTAACTCTATTGACAAT	0.383												
DHX58	79132	broad.mit.edu	37	17	40263362	40263362	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:40263362G>T	uc002hyw.3	-	3	545	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	108	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTGCCATCTGCAGAAGCTCT	0.622												
HEATR6	63897	broad.mit.edu	37	17	58137429	58137429	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:58137429G>C	uc002iyk.1	-	9	1462	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	482							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAAGATGGCAGATAAAACTTG	0.433												
KCNJ16	3773	broad.mit.edu	37	17	68128948	68128948	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:68128948A>T	uc002jiq.3	+	2	956	c.816A>T	c.(814-816)ttA>ttT	p.L272F	KCNJ16_uc002jin.3_Missense_Mutation_p.L240F|KCNJ16_uc002jio.3_Missense_Mutation_p.L240F|KCNJ16_uc002jip.3_Missense_Mutation_p.L240F|KCNJ16_uc021uch.1_Missense_Mutation_p.L240F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	240					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCTCAAATTAGTCAACGACC	0.483												
SMCHD1	23347	broad.mit.edu	37	18	2688412	2688412	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:2688412G>A	uc002klm.4	+	5	848	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	220					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATATGTTCGTCCAGTACCA	0.368												
DSG4	147409	broad.mit.edu	37	18	28993484	28993484	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:28993484G>A	uc002kwr.2	+	14	3241	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	DSG4_uc002kwq.2_Missense_Mutation_p.V1017I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	1017					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCAAACCGTTGGCTCCAC	0.453												
CDH19	28513	broad.mit.edu	37	18	64218401	64218401	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:64218401C>T	uc002lkc.1	-	4	843	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.3_Silent_p.A235A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	235	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)				TTCCAGACAACGCTCCTGGCT	0.328												
FBN3	84467	broad.mit.edu	37	19	8191373	8191373	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:8191373G>C	uc002mjf.3	-	18	2550	c.2533C>G	c.(2533-2535)Ccc>Gcc	p.P845A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	845	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTCGCAGGGGCTCCCCCAG	0.667												
TNPO2	30000	broad.mit.edu	37	19	12825902	12825902	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:12825902G>A	uc002mup.3	-	6	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TNPO2_uc002muq.3_Missense_Mutation_p.R244W|TNPO2_uc002muo.3_Missense_Mutation_p.R244W|TNPO2_uc002mur.3_Missense_Mutation_p.R244W	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	244					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336C(1)|p.R336H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCAATCCGCACTTCCAGA	0.632												
ZNF17	7565	broad.mit.edu	37	19	57931383	57931383	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:57931383A>G	uc002qop.1	+	3	795	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	ZNF17_uc021vck.1_Missense_Mutation_p.R168G|ZNF17_uc002qoo.1_Missense_Mutation_p.R175G	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAGCCACACAGGGACACTCA	0.488												
ALLC	55821	broad.mit.edu	37	2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:3727515G>A	uc010ewt.3	+	4	390	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	96							allantoicase activity	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547										HNSCC(21;0.051)		
RAD51AP2	729475	broad.mit.edu	37	2	17696534	17696534	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:17696534C>A	uc002rcl.1	-	0	3173	c.3149G>T	c.(3148-3150)tGg>tTg	p.W1050L	RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1050										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGTTTTCCATTTAAATAA	0.368												
MSH6	2956	broad.mit.edu	37	2	48026087	48026087	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:48026087C>T	uc002rwd.4	+	3	1117	c.965C>T	c.(964-966)gCc>gTc	p.A322V	MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.3_Missense_Mutation_p.A20V|MSH6_uc010yoj.2_Missense_Mutation_p.A20V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	322					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGCCCTCAGCCACCAAACAA	0.473			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
TSGA10	80705	broad.mit.edu	37	2	99634812	99634812	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:99634812C>T	uc002szg.4	-	18	2551	c.1923_splice	c.e18-1	p.R641_splice	TSGA10_uc002szh.4_Splice_Site_p.R641_splice|TSGA10_uc002szi.4_Splice_Site_p.R641_splice|TSGA10_uc010fin.1_Splice_Site_p.R641_splice	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	641	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGGCCCTCTCCCTAAAGCAAA	0.323												
IL1R1	3554	broad.mit.edu	37	2	102789175	102789175	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:102789175A>T	uc002tbq.3	+	8	1186	c.868A>T	c.(868-870)Agt>Tgt	p.S290C	IL1R1_uc010fix.3_Missense_Mutation_p.S290C|IL1R1_uc002tbr.3_Missense_Mutation_p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	290	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAAAGAAGGAGTACCCTCAT	0.348												
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507												
XIRP2	129446	broad.mit.edu	37	2	168103543	168103543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:168103543C>T	uc002udx.3	+	8	5730	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1706					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGCCATCGATGGAAAGA	0.378												
TTN	7273	broad.mit.edu	37	2	179431526	179431526	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:179431526G>A	uc021vsy.1	-	274	71854	c.71629C>T	c.(71629-71631)Cgt>Tgt	p.R23877C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17572C|TTN_uc021vta.1_Missense_Mutation_p.R17505C|TTN_uc021vtb.1_Missense_Mutation_p.R17380C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24804	Ig-like 120.						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)			ACTCTTAGACGCAAATCTGTA	0.408												
ANGPT4	51378	broad.mit.edu	37	20	870858	870858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:870858G>A	uc002wei.3	-	1	566	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q149*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	155					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGTTACCTGAGCCTCCATG	0.607												
SIRPA	140885	broad.mit.edu	37	20	1915375	1915375	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:1915375A>T	uc002wfq.3	+	7	1601	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	SIRPA_uc010zps.2_Missense_Mutation_p.E394V|SIRPA_uc002wfr.3_Missense_Mutation_p.E414V|SIRPA_uc002wfs.3_Missense_Mutation_p.E414V|SIRPA_uc002wft.3_Missense_Mutation_p.E414V	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	414					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.E414*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATGAGCCCGAGAAGAATGCC	0.448												
PTPRT	11122	broad.mit.edu	37	20	41385120	41385120	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:41385120C>T	uc002xkg.3	-	5	1025	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	PTPRT_uc010ggj.3_Missense_Mutation_p.A281T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	281	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A281V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGCTCCGCGTAGTTGGAC	0.567												
TRIM71	131405	broad.mit.edu	37	3	32932739	32932739	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:32932739G>A	uc003cff.3	+	3	2106	c.2043G>A	c.(2041-2043)acG>acA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	681					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCTTCACGTTCGAGGGCC	0.582												
AMIGO3	386724	broad.mit.edu	37	3	49756785	49756785	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:49756785A>G	uc003cxj.3	-	0	454	c.114T>C	c.(112-114)tgT>tgC	p.C38C	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	38	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGATACATTTGTAGG	0.647											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:88040099T>A	uc003dqr.2	+	1	358	c.200T>A	c.(199-201)gTc>gAc	p.V67D	HTR1F_uc021xbd.1_Missense_Mutation_p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463												
FAM55C	91775	broad.mit.edu	37	3	101520152	101520152	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:101520152G>A	uc003dvn.3	+	4	804	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FAM55C_uc010hpn.3_Missense_Mutation_p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	56						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CAGGTGACAGGAATTAGCCGA	0.522												
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	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(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	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)		
GABRB1	2560	broad.mit.edu	37	4	47322182	47322182	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:47322182G>T	uc003gxh.3	+	4	874	c.500G>T	c.(499-501)aGa>aTa	p.R167I	GABRB1_uc011bze.2_Missense_Mutation_p.R97I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	167					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GATCTTCGAAGATATCCATTG	0.418												
HPSE	10855	broad.mit.edu	37	4	84216623	84216623	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:84216623C>G	uc003hoj.4	-	11	1605	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	HPSE_uc003hoi.3_Missense_Mutation_p.M444I|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.M245I|HPSE_uc003hok.4_Missense_Mutation_p.M502I|HPSE_uc011cct.2_Missense_Mutation_p.M428I	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	502					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GATCATCCACCATCTTTAGAG	0.443												
LRIT3	345193	broad.mit.edu	37	4	110791269	110791269	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:110791269C>A	uc003hzx.4	+	2	1422	c.1229C>A	c.(1228-1230)gCa>gAa	p.A410E	LRIT3_uc003hzw.4_Missense_Mutation_p.A272E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	410						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTAAAGGTGGCAAAGAATGGA	0.458												
MYOZ2	51778	broad.mit.edu	37	4	120072132	120072132	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:120072132G>A	uc003icp.4	+	2	395	c.182G>A	c.(181-183)cGt>cAt	p.R61H		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	61							protein phosphatase 2B binding	p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TTTAAGATGCGTCAAAGAAGA	0.398												
FSTL5	56884	broad.mit.edu	37	4	162577565	162577565	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:162577565C>G	uc003iqh.3	-	6	1245	c.809G>C	c.(808-810)tGt>tCt	p.C270S	FSTL5_uc003iqi.3_Missense_Mutation_p.C269S|FSTL5_uc010iqv.3_Missense_Mutation_p.C269S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	270	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAATGGCACAGCTCAGAAC	0.393												
OSMR	9180	broad.mit.edu	37	5	38904563	38904563	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:38904563T>A	uc003jln.2	+	8	1645	c.1243T>A	c.(1243-1245)Tgg>Agg	p.W415R		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	415	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTCTGGAAATGGAGTGAATG	0.488												
COX7C	1350	broad.mit.edu	37	5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:85915176C>T	uc003kir.3	+	1	171	c.82C>T	c.(82-84)Cca>Tca	p.P28S	MIR3607_uc021yba.1_5'Flank	NM_001867	NP_001858	P15954	COX7C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA.	28					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338												
PCDHAC2	56137	broad.mit.edu	37	5	140255258	140255258	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:140255258G>A	uc003lic.2	+	0	328	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A67A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632												
SH3RF2	153769	broad.mit.edu	37	5	145393533	145393533	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:145393533T>G	uc003lnt.3	+	4	1206	c.968T>G	c.(967-969)aTc>aGc	p.I323S	SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	323							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.E322K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTAGAGATCAGCACCCCA	0.567												
ITPR3	3710	broad.mit.edu	37	6	33644615	33644615	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:33644615G>A	uc021ywr.1	+	25	3577	c.3353G>A	c.(3352-3354)cGg>cAg	p.R1118Q		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1118					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACCGGCTGCGGACCATGGTG	0.597												
KCNK16	83795	broad.mit.edu	37	6	39282798	39282814	+	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-	rs147542213	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	uc003oor.4	-	4					KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Frame_Shift_Del_p.Q298fs|KCNK16_uc010jwy.3_Frame_Shift_Del_p.Q251fs	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.							integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	0.590												
CUL9	23113	broad.mit.edu	37	6	43164484	43164484	+	Missense_Mutation	SNP	C	C	A	rs142672693	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43164484C>A	uc003ouk.3	+	10	2762	c.2687C>A	c.(2686-2688)aCg>aAg	p.T896K	CUL9_uc003oul.3_Missense_Mutation_p.T896K|CUL9_uc010jyk.3_Missense_Mutation_p.T48K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	896					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517												
ABCC10	89845	broad.mit.edu	37	6	43413522	43413522	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43413522G>A	uc003ouy.1	+	14	3431	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1072	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTGCTGCCGCCTTTGAGCA	0.662												
GCM1	8521	broad.mit.edu	37	6	52993580	52993580	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:52993580T>C	uc003pbp.3	-	5	944	c.735A>G	c.(733-735)ggA>ggG	p.G245G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGTGATTCCTCCCAGACCAT	0.453												
LGSN	51557	broad.mit.edu	37	6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:63990360G>A	uc003peh.3	-	3	1130	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAACGCTTTCGGCAGCTAACA	0.478												
PHF3	23469	broad.mit.edu	37	6	64422167	64422167	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:64422167A>G	uc003pep.1	+	14	4708	c.4683A>G	c.(4681-4683)agA>agG	p.R1561R	PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1561					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAGTCTCAGAGGTAAGCCAC	0.353												
SEC63	11231	broad.mit.edu	37	6	108250659	108250659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:108250659G>A	uc003psc.4	-	1	453	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	62					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.R62W(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTAATAACCGTAAACGATAC	0.299												
SLC22A2	6582	broad.mit.edu	37	6	160663362	160663362	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:160663362C>A	uc003qtf.3	-	7	1526	c.1352G>T	c.(1351-1353)tGc>tTc	p.C451F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	451		Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).			body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTGACCAGGCAGACTATCTC	0.438												
DGKB	1607	broad.mit.edu	37	7	14733777	14733777	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:14733777C>T	uc003ssz.3	-	7	821	c.634G>A	c.(634-636)Gga>Aga	p.G212R	DGKB_uc011jxt.2_Missense_Mutation_p.G205R|DGKB_uc003sta.3_Missense_Mutation_p.G212R|DGKB_uc011jxu.2_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	212	EF-hand 2.				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)	GACACGGTTCCATCATGATCA	0.418												
TRA2A	29896	broad.mit.edu	37	7	23552560	23552560	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:23552560G>C	uc003swi.3	-	3	691	c.478C>G	c.(478-480)Cga>Gga	p.R160G	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R59G|TRA2A_uc011jzd.2_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	160	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCAAATCCTCGAGATCGCCCA	0.378												
GHRHR	2692	broad.mit.edu	37	7	31009513	31009513	+	Silent	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:31009513C>A	uc003tbx.3	+	3	348	c.300C>A	c.(298-300)ggC>ggA	p.G100G	GHRHR_uc003tby.3_Silent_p.G36G|GHRHR_uc003tbz.3_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTATCACTGGCTGGTCTGAGC	0.602												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PCLO	27445	broad.mit.edu	37	7	82474620	82474620	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:82474620G>A	uc003uhx.2	-	12	14302	c.14013C>T	c.(14011-14013)ccC>ccT	p.P4671P	PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4559					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						TGCTCACTGAGGGGGACCCTG	0.488												
STEAP4	79689	broad.mit.edu	37	7	87913202	87913202	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:87913202G>A	uc022agz.1	-	2	606	c.383C>T	c.(382-384)gCc>gTc	p.A128V	STEAP4_uc003ujs.3_Missense_Mutation_p.A128V|STEAP4_uc010lek.3_Missense_Mutation_p.A128V	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	128					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACCACGTGGGCTCCTGGCAC	0.428												
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:99170930G>T	uc010lga.3	+	3	1697	c.1304G>T	c.(1303-1305)aGa>aTa	p.R435I	ZNF655_uc003urh.3_Missense_Mutation_p.R400I|ZNF655_uc010lgc.3_Missense_Mutation_p.R435I|ZNF655_uc003urj.3_Missense_Mutation_p.R400I|ZNF655_uc003urk.3_Missense_Mutation_p.R237I|ZNF655_uc010lgd.3_Missense_Mutation_p.R237I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	400					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353												
RELN	5649	broad.mit.edu	37	7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:103368622T>C	uc022ajr.1	-	6	849	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_uc022ajq.1_Missense_Mutation_p.Q230R|RELN_uc010liz.3_Missense_Mutation_p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	230					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCGCCACACTGTTCTCCAGT	0.458												
TAS2R16	50833	broad.mit.edu	37	7	122635067	122635067	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:122635067G>T	uc003vkl.1	-	0	688	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	208					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATGATGTTGTATCTGCTTG	0.463												
TRPV6	55503	broad.mit.edu	37	7	142575732	142575732	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:142575732T>C	uc003wbx.2	-	1	405	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	59					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTTCAGGGCCTGGACATCATT	0.493												
DCTN6	10671	broad.mit.edu	37	8	30040689	30040689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:30040689A>C	uc003xhy.3	+	6	660	c.573A>C	c.(571-573)taA>taC	p.*191Y	MIR548O2_uc022atm.1_Intron	NM_006571	NP_006562	O00399	DCTN6_HUMAN	Homo sapiens dynactin 6 (DCTN6), mRNA.	0						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TAAAGAACTAAGAACAGTGTA	0.378												
PLEKHA2	59339	broad.mit.edu	37	8	38826181	38826181	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:38826181C>T	uc003xmi.4	+	10	1143	c.909C>T	c.(907-909)caC>caT	p.H303H	PLEKHA2_uc011lce.2_Silent_p.H253H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	303					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAAGTGCCACCCCAGAGTAA	0.498												
ANK1	286	broad.mit.edu	37	8	41543721	41543721	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:41543721T>A	uc003xok.3	-	35	4423	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S763C|ANK1_uc003xoi.3_Missense_Mutation_p.S1447C|ANK1_uc003xoj.3_Missense_Mutation_p.S1447C|ANK1_uc003xol.3_Missense_Mutation_p.S1447C|ANK1_uc003xom.3_Missense_Mutation_p.S1488C	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1447	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGGCCACACTCTGCTCCAAC	0.557												
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:79645969C>T	uc003ybg.3	-	5	1114	c.513G>A	c.(511-513)ttG>ttA	p.L171L	IL7_uc022awh.1_Silent_p.L153L|IL7_uc022awi.1_Silent_p.L127L|IL7_uc022awj.1_Silent_p.L109L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323												
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:101016271C>T	uc003yjb.1	-	16	2705	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353												
SMARCA2	6595	broad.mit.edu	37	9	2029232	2029232	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:2029232G>C	uc003zhc.3	+	1	309	c.210G>C	c.(208-210)atG>atC	p.M70I	SMARCA2_uc003zhd.3_Missense_Mutation_p.M70I|SMARCA2_uc010mha.3_Missense_Mutation_p.M61I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	70					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGAAGGCATGCATCAAATGC	0.493												
IL33	90865	broad.mit.edu	37	9	6251142	6251142	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:6251142A>G	uc003zjt.3	+	3	298	c.220A>G	c.(220-222)Aga>Gga	p.R74G	IL33_uc011lmg.2_Missense_Mutation_p.R74G|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	74					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTGCAGGTAGAAAGCACAA	0.493												
ZNF484	83744	broad.mit.edu	37	9	95610513	95610513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:95610513C>A	uc004asu.1	-	4	705	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGATAGGCTCCAAATTCTTT	0.343												
ZNF462	58499	broad.mit.edu	37	9	109687562	109687562	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:109687562C>G	uc004bcz.3	+	2	1658	c.1369C>G	c.(1369-1371)Cac>Gac	p.H457D	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H305D|ZNF462_uc004bda.3_Missense_Mutation_p.H305D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	457					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATCTCTCGTCACATAGAAAA	0.438												
FAM129B	64855	broad.mit.edu	37	9	130289580	130289580	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:130289580C>T	uc004brh.3	-	2	410	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	FAM129B_uc004bri.3_Missense_Mutation_p.V57I|FAM129B_uc004brj.4_Missense_Mutation_p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	70	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGAGAAGACGATGCGCTCG	0.637												
PAEP	5047	broad.mit.edu	37	9	138453719	138453719	+	Silent	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:138453719C>A	uc004cge.1	+	0	116	c.72C>A	c.(70-72)acC>acA	p.T24T	PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nay.3_Silent_p.T24T|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	24					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCCAGACCAAGCAGGACC	0.682												
MXRA5	25878	broad.mit.edu	37	X	3235331	3235331	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:3235331C>T	uc004crg.4	-	5	6548	c.6391G>A	c.(6391-6393)Gcg>Acg	p.A2131T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2131	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTGCGCGCGGAGCCTACC	0.662												
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:26212996C>T	uc022buc.1	+	0	1033	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MAGEB6_uc004dbr.3_Missense_Mutation_p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	345	MAGE.							p.R345W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498												
USP9X	8239	broad.mit.edu	37	X	41075579	41075579	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:41075579G>C	uc004dfb.3	+	34	6392	c.5759G>C	c.(5758-5760)tGt>tCt	p.C1920S	USP9X_uc004dfc.3_Missense_Mutation_p.C1920S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1920					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAAACCAGTGTTTTGGTGGA	0.388												
SLC9A7	84679	broad.mit.edu	37	X	46491045	46491047	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:46491045_46491047delGTT	uc004dgu.1	-	13	1719_1721	c.1711_1713delAAC	c.(1711-1713)aacdel	p.N571del		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	571					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAAGCTGTCGTTGTTGGGTGGT	0.483												
Unknown	0	broad.mit.edu	37	X	51150985	51150985	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:51150985G>C								NUDT10 (70608 upstream) : NUDT11 (81878 downstream)																							TCCTTCCTGTGGGACTGGCTC	0.602												
SSX7	280658	broad.mit.edu	37	X	52677324	52677324	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:52677324A>G	uc004dqx.1	-	5	612	c.453T>C	c.(451-453)atT>atC	p.I151I		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATGTCTTGTTAATCTTCTCAG	0.512												
KIAA2022	340533	broad.mit.edu	37	X	73963402	73963402	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:73963402C>T	uc004eby.3	-	2	1607	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	330					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGCATCTTCCTGCATCAAAA	0.448												
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)		
KIAA1210	57481	broad.mit.edu	37	X	118220581	118220581	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:118220581C>T	uc004era.4	-	10	4612	c.4612G>A	c.(4612-4614)Gtt>Att	p.V1538I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1538										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATCTGCAACGTAAGATATT	0.507												
DCAF12L1	139170	broad.mit.edu	37	X	125686304	125686304	+	Silent	SNP	C	C	T	rs141018282		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:125686304C>T	uc022cds.1	-	0	288	c.288G>A	c.(286-288)acG>acA	p.T96T	DCAF12L1_uc004eul.3_Silent_p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTTGTTGACCGTGCCCAGCT	0.657												
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:132160788delA	uc011mvf.2	-	0	1513	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_uc010nrm.1_Frame_Shift_Del_p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F487fs*7(2)|p.G488fs*6(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383												
MAGEA10	4109	broad.mit.edu	37	X	151303934	151303934	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:151303934G>A	uc022cgz.1	-	0	159	c.159C>T	c.(157-159)ccC>ccT	p.P53P	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P53P|MAGEA10_uc004ffm.2_Silent_p.P53P|MAGEA10_uc004ffl.3_Silent_p.P53P	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	53										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggagggaaaagagg	0.562												
RENBP	5973	broad.mit.edu	37	X	153209567	153209567	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:153209567C>A	uc004fjo.2	-	2	348	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	RENBP_uc011mzh.1_Missense_Mutation_p.D60Y	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	60					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TTGAGGTCATCATACACCCGC	0.632												
