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
PRAMEF2	65122	broad.mit.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:12919829C>T	uc001aum.1	+	2	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	190								p.T190M(2)|p.T190T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398												
ATP13A2	23400	broad.mit.edu	37	1	17318252	17318252	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:17318252C>T	uc001baa.2	-	19	2418	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A2_uc001bac.2_Missense_Mutation_p.R738H|ATP13A2_uc001bab.2_Missense_Mutation_p.R738H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	743					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCGGATGCGGGTCCTTCG	0.622												
WDR78	79819	broad.mit.edu	37	1	67301450	67301450	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:67301450C>T	uc001dcx.3	-	10	1648	c.1592G>A	c.(1591-1593)cGt>cAt	p.R531H	WDR78_uc009waw.3_Missense_Mutation_p.R277H|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	531										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGATAAATACGTTCTGGCCA	0.368												
CELSR2	1952	broad.mit.edu	37	1	109795999	109795999	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:109795999G>A	uc001dxa.4	+	0	3359	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1100	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATCATGAGCGTGCTGGTGTC	0.637												
HRNR	388697	broad.mit.edu	37	1	152191194	152191194	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:152191194C>G	uc001ezt.1	-	2	2987	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	971					keratinization		calcium ion binding|protein binding	p.E971K(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTTCGCTCCTAGAT	0.562												
CD5L	922	broad.mit.edu	37	1	157804375	157804375	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:157804375T>C	uc001frk.4	-	3	683	c.540A>G	c.(538-540)ggA>ggG	p.G180G		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	180	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTCCCACATCCCAGCTGCC	0.587												
CEP350	9857	broad.mit.edu	37	1	180063502	180063505	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:180063502_180063505delGACA	uc001gnt.3	+	33	8645_8648	c.8262_8265delGACA	c.(8260-8265)ctgacafs	p.L2754fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.3_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2754						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCTTACTGACAGACAGTTTAC	0.358												
MAT1A	4143	broad.mit.edu	37	10	82034790	82034790	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:82034790G>A	uc001kbw.3	-	6	1189	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	312					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			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)	AGCACTCTCCGGCAGAGCCCT	0.632												
PTEN	5728	broad.mit.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:89692923G>A	uc001kfb.3	+	4	1439	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		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.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(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)		GTAATGATATGTGCATATTTA	0.393		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)		
OR9G4	283189	broad.mit.edu	37	11	56510803	56510803	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:56510803C>A	uc010rjo.2	-	0	485	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G162G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TATGTAGGAGCCAGCAACAAG	0.463												
TECTA	7007	broad.mit.edu	37	11	121028677	121028677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:121028677G>A	uc010rzo.2	+	12	4433	c.4433G>A	c.(4432-4434)gGc>gAc	p.G1478D		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1478					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGTGCGCGGCTGCTTCAGC	0.682												
LRIG3	121227	broad.mit.edu	37	12	59270251	59270251	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59270251A>G	uc001sqr.3	-	15	2917	c.2671T>C	c.(2671-2673)Ttc>Ctc	p.F891L	LRIG3_uc009zqh.3_Missense_Mutation_p.F831L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	891						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTGGTAAGAAAAATCCAGCA	0.418			T	ROS1	NSCLC							
LRIG3	121227	broad.mit.edu	37	12	59271192	59271192	+	Silent	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59271192A>G	uc001sqr.3	-	14	2772	c.2526T>C	c.(2524-2526)atT>atC	p.I842I	LRIG3_uc009zqh.3_Silent_p.I782I|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	842						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGTGTTGGTAATGCTGCAAT	0.493			T	ROS1	NSCLC							
PLBD2	196463	broad.mit.edu	37	12	113825637	113825637	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:113825637G>A	uc001tve.2	+	10	1563	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	510					lipid catabolic process	lysosomal lumen	hydrolase activity	p.S509S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCCCGCTCCGACCTCAACCC	0.617												
ZMYM2	7750	broad.mit.edu	37	13	20625722	20625722	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr13:20625722T>C	uc001umr.3	+	13	2740	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	ZMYM2_uc001ums.3_Silent_p.P814P|ZMYM2_uc021rgy.1_Silent_p.P814P|ZMYM2_uc001umt.3_Silent_p.P814P|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Silent_p.P194P|ZMYM2_uc001umw.3_Silent_p.P267P	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAAAGGACCTGAAAACTTAC	0.368												
GALC	2581	broad.mit.edu	37	14	88416243	88416243	+	Silent	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr14:88416243G>T	uc001xvt.3	-	11	1391	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T405T|GALC_uc010tvx.2_Silent_p.T402T|GALC_uc010tvz.1_Silent_p.T372T	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	428					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCAAGTTTGGTATACCATA	0.333												
CKMT1B	1159	broad.mit.edu	37	15	43891425	43891425	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:43891425G>A	uc001zsc.3	+	9	1600	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CKMT1B_uc010uds.2_Missense_Mutation_p.G434D|CKMT1B_uc010bdj.3_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	403					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTGGAGAGAGGCCAGGATATC	0.493												
FBN1	2200	broad.mit.edu	37	15	48760692	48760692	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:48760692C>T	uc001zwx.2	-	36	4894	c.4499G>A	c.(4498-4500)gGg>gAg	p.G1500E	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1500	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACACAGTTCCCACTGATGCA	0.473												
IGF1R	3480	broad.mit.edu	37	15	99251008	99251008	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:99251008G>A	uc002bul.3	+	1	362	c.312G>A	c.(310-312)acG>acA	p.T104T	IGF1R_uc010urq.2_Silent_p.T104T|IGF1R_uc010bon.3_Silent_p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	104					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAACCTCACGGTCATCCGCG	0.547												
RLTPR	146206	broad.mit.edu	37	16	67681065	67681065	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr16:67681065C>T	uc002etn.3	+	8	778	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RLTPR_uc010cel.1_Missense_Mutation_p.R220W|RLTPR_uc010vjr.2_Missense_Mutation_p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	220										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGTGGTTCCGGTGCCTCTC	0.672												
MFSD12	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:3550991G>A	uc002lxw.3	-	1	670	c.500C>T	c.(499-501)aCg>aTg	p.T167M	MFSD12_uc002lxx.3_Missense_Mutation_p.T167M|MFSD12_uc002lxy.3_Missense_Mutation_p.T158M|MFSD12_uc002lxz.3_Missense_Mutation_p.T167M	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	167					transmembrane transport	integral to membrane		p.T167M(3)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGAGTGCCGTGAGCTCCAC	0.627												
MUC16	94025	broad.mit.edu	37	19	9021119	9021119	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:9021119C>T	uc002mkp.3	-	18	37408	c.37204G>A	c.(37204-37206)Ggg>Agg	p.G12402R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12404	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCTCCCCATACTGCAGG	0.547												
NWD1	284434	broad.mit.edu	37	19	16874718	16874718	+	Missense_Mutation	SNP	A	A	G	rs111332125		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:16874718A>G	uc002neu.4	+	8	2635	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	NWD1_uc002net.4_Missense_Mutation_p.H603R|NWD1_uc002nev.4_Missense_Mutation_p.H532R|NWD1_uc021uqg.1_Missense_Mutation_p.H603R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	738							ATP binding	p.T737T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTGCTTCACTCGGGCCGC	0.612												
SLC5A6	8884	broad.mit.edu	37	2	27425742	27425742	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:27425742C>T	uc010eyv.1	-	12	1536	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	SLC5A6_uc002rjd.3_Missense_Mutation_p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	405					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493												
SLC1A4	6509	broad.mit.edu	37	2	65237852	65237852	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:65237852A>G	uc010yqa.2	+	3	1038	c.755A>G	c.(754-756)aAt>aGt	p.N252S	SLC1A4_uc010ypz.2_Missense_Mutation_p.N32S|SLC1A4_uc002sdh.3_Missense_Mutation_p.N32S	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	252					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGTTTCTTCAATTCCCTCAAC	0.498												
GPR45	11250	broad.mit.edu	37	2	105858641	105858641	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:105858641T>C	uc002tco.1	+	0	442	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	109						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTGCCGCCTCTCAGCCACG	0.612												
NDUFA10	4705	broad.mit.edu	37	2	240944658	240944658	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:240944658C>T	uc010fzc.2	-	8	1050	c.949G>A	c.(949-951)Gac>Aac	p.D317N	NDUFA10_uc002vyn.3_Missense_Mutation_p.D287N	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	287					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTGCGATTGTCCTGCTTGAGC	0.463												
SYCP2	10388	broad.mit.edu	37	20	58471554	58471554	+	Silent	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr20:58471554A>G	uc002yaz.3	-	17	1573	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	478					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATGCTTCAGACATTTTTC	0.313												
SCAF4	57466	broad.mit.edu	37	21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr21:33044602C>T	uc002ypd.2	-	19	2980	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_uc002ype.2_Missense_Mutation_p.A830T|SCAF4_uc010glu.2_Missense_Mutation_p.A837T	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	852						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562												
PITPNB	23760	broad.mit.edu	37	22	28310333	28310333	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr22:28310333C>T	uc011akh.2	-	1	101	c.29G>A	c.(28-30)cGt>cAt	p.R10H	PITPNB_uc003adk.3_Missense_Mutation_p.R8H|PITPNB_uc003adl.3_Missense_Mutation_p.R8H	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	8					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CAAAACCACACGGCTAAAAAG	0.318												
DPPA2	151871	broad.mit.edu	37	3	109026881	109026881	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:109026881G>A	uc003dxo.3	-	5	903	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	219						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATCTTACCAGAGGCTTGCAT	0.438												
CD200R1L	344807	broad.mit.edu	37	3	112546470	112546470	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:112546470T>C	uc003dzi.1	-	2	400	c.174A>G	c.(172-174)gcA>gcG	p.A58A	CD200R1L_uc010hqf.1_Silent_p.A37A|CD200R1L_uc011bhw.1_Silent_p.A37A	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	58	Ig-like V-type.					integral to membrane	receptor activity	p.I57V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AATTTCTTAATGCGATAGGAG	0.393												
RNF168	165918	broad.mit.edu	37	3	196230195	196230195	+	Translation_Start_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:196230195C>T	uc003fwq.3	-	0					RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.						double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCATCCAACACGTCTTGAAGC	0.493												
CRIPAK	285464	broad.mit.edu	37	4	1389373	1389373	+	Silent	SNP	T	T	C	rs71299249		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:1389373T>C	uc003gdf.2	+	0	4034	c.1074T>C	c.(1072-1074)caT>caC	p.H358H		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	358				H -> Y (in Ref. 1; BAC03741).	ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.H358L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGTGGAGTGCC	0.657												
HGFAC	3083	broad.mit.edu	37	4	3451018	3451018	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:3451018G>A	uc003ghc.3	+	13	1843	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	HGFAC_uc010icw.3_Missense_Mutation_p.G621S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	614	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTACCTCTACGGCATCATCAG	0.672												
RBM47	54502	broad.mit.edu	37	4	40439840	40439840	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:40439840G>A	uc003gvc.2	-	3	1781	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	357						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642												
ANK2	287	broad.mit.edu	37	4	114276299	114276299	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:114276299C>G	uc003ibe.4	+	37	6625	c.6525C>G	c.(6523-6525)aaC>aaG	p.N2175K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2142					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCTTTCAACACAACATTTC	0.433												
DNAH5	1767	broad.mit.edu	37	5	13876806	13876806	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:13876806T>A	uc003jfd.2	-	21	3425	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1128	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGTGGAGTTGATAATTGT	0.378									Kartagener syndrome			
C6	729	broad.mit.edu	37	5	41186199	41186199	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:41186199C>T	uc003jmk.2	-	5	909	c.699G>A	c.(697-699)ccG>ccA	p.P233P	C6_uc003jml.1_Silent_p.P233P	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	233	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAGATTGGCCGGAACACGGT	0.443												
PCDHB7	56129	broad.mit.edu	37	5	140554315	140554315	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:140554315C>T	uc003lit.3	+	0	2073	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.687												
SH3TC2	79628	broad.mit.edu	37	5	148407984	148407984	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:148407984G>C	uc003lpu.3	-	10	1463	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.D81E|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.D322E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	437							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGATAGCTGTCTGAGGTGG	0.622												
GABRB2	2561	broad.mit.edu	37	5	160761758	160761758	+	Splice_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:160761758C>T	uc003lys.1	-	8	1050	c.832_splice	c.e8+1	p.G278_splice	GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc021yhg.1_Splice_Site_p.G215_splice	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	278					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATGGCCTACCTAATGCCAC	0.443												
GABRA6	2559	broad.mit.edu	37	5	161117359	161117359	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:161117359G>A	uc003lyu.2	+	7	1164	c.826_splice	c.e7+1	p.G276_splice	GABRA6_uc003lyv.2_Splice_Site_p.G47_splice	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACTGTTTTTGGTATATGTCA	0.378										TCGA Ovarian(5;0.080)		
HIST1H1C	3006	broad.mit.edu	37	6	26056237	26056245	+	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-	rs149712381	by1000genomes	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:26056237_26056245delCTTCTTGGG	uc003nfw.3	-	0	455_463	c.412_420delCCCAAGAAG	c.(412-420)cccaagaagdel	p.PKK138del		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	138					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	0.565												
TAP2	6891	broad.mit.edu	37	6	32803482	32803482	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:32803482C>T	uc011dqf.1	-	3	799	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003occ.3_Missense_Mutation_p.R226Q|TAP2_uc003ocd.3_Missense_Mutation_p.R226Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	226	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AAGCTGCTCCCGGATCCGCAA	0.582												
DNAH8	1769	broad.mit.edu	37	6	38750809	38750809	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:38750809C>T	uc021yzh.1	+	16	2398	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	DNAH8_uc003ooe.2_Silent_p.D546D	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGTCCGGACGGTAAAGCTG	0.378												
MANEA	79694	broad.mit.edu	37	6	96053740	96053740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:96053740C>T	uc003poo.2	+	4	1028	c.848C>T	c.(847-849)aCc>aTc	p.T283I		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	283	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCTGTTAACCACCTCAGGG	0.398												
SIM1	6492	broad.mit.edu	37	6	100841630	100841630	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:100841630C>T	uc003pqj.4	-	9	1770	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	SIM1_uc021zdg.1_Missense_Mutation_p.A435T|SIM1_uc010kcu.3_Missense_Mutation_p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	435	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCTGTAGGCGCACGATGCG	0.617												
ZNF727	442319	broad.mit.edu	37	7	63529345	63529345	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:63529345G>A	uc011kdm.2	+	1	259	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GCTCAGCAGCGTTTGTATAGG	0.393												
CALCR	799	broad.mit.edu	37	7	93108720	93108720	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:93108720C>T	uc003umv.2	-	4	505	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGTACTGTGCATCCATCATC	0.418												
TMEM130	222865	broad.mit.edu	37	7	98457803	98457803	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:98457803C>T	uc003upo.3	-	3	740	c.551_splice	c.e3+1	p.G184_splice	TMEM130_uc011kiq.2_Splice_Site_p.G165_splice|TMEM130_uc011kir.2_Splice_Site_p.G184_splice|TMEM130_uc003upn.3_Splice_Site_p.G82_splice	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	184	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGACCTACCCGTCCCCGAAG	0.557												
LAMB4	22798	broad.mit.edu	37	7	107745023	107745023	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:107745023C>T	uc010ljo.1	-	8	996	c.912G>A	c.(910-912)ccG>ccA	p.P304P	LAMB4_uc003vey.2_Silent_p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	304	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCACAGTTCGGACCATCTG	0.522												
UBE3C	9690	broad.mit.edu	37	7	157041080	157041081	+	In_Frame_Ins	INS	-	-	TGG			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:157041080_157041081insTGG	uc010lqs.3	+	18	2812_2813	c.2500_2501insTGG	c.(2500-2502)ctg>cTGGtg	p.835_836insV	UBE3C_uc003wni.4_In_Frame_Ins_p.198_199insV	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.E836E(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAGAACATGCTGGTGGAGCTG	0.470												
RP1L1	94137	broad.mit.edu	37	8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:10467799G>A	uc003wtc.3	-	3	4038	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1270					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517												
CSMD3	114788	broad.mit.edu	37	8	113420591	113420591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:113420591G>T	uc003ynu.3	-	33	5720	c.5561C>A	c.(5560-5562)tCa>tAa	p.S1854*	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.S1750*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1854	CUB 10.					integral to membrane|plasma membrane		p.T1853N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCCAACTGAAGTAAATCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ANKRD18A	253650	broad.mit.edu	37	9	38586191	38586191	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr9:38586191G>A	uc004abg.4	-	11	2314	c.2236C>T	c.(2236-2238)Cta>Tta	p.L746L	ANKRD18A_uc004abf.1_Silent_p.L423L	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	746										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTCTGTTTTAGCTTCTTAAAC	0.303												
ELK1	2002	broad.mit.edu	37	X	47509844	47509844	+	Translation_Start_Site	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:47509844G>A	uc004dik.4	-	0					ELK1_uc010nhv.3_5'UTR|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGCGGTGGCGTTGGCAATGT	0.726												
PNMA3	29944	broad.mit.edu	37	X	152226004	152226004	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:152226004G>A	uc022cho.1	+	0	592	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_uc004fhc.2_Missense_Mutation_p.E198K|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577