Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RAD54L	8438	broad.mit.edu	37	1	46726604	46726604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:46726604A>G	ENST00000371975.4	+	7	1357	c.683A>G	c.(682-684)aAt>aGt	p.N228S	RAD54L_ENST00000442598.1_Missense_Mutation_p.N228S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	228	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AACTGGTACAATGAGGTTGGG	0.512000								Direct reversal of damage;Homologous recombination					5	43					0	0	0.021553	0	0
SMC4	10051	broad.mit.edu	37	3	160148867	160148867	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:160148867A>C	ENST00000357388.3	+	20	3439	c.2988A>C	c.(2986-2988)gaA>gaC	p.E996D	SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E971D|SMC4_ENST00000344722.5_Missense_Mutation_p.E996D|SMC4_ENST00000462787.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	996					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTTCAAGAATTAAAAGTTA	0.328000													12	100					0	0	0.105934	0	0
EPHA4	2043	broad.mit.edu	37	2	222347263	222347263	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:222347263T>A	ENST00000281821.2	-	5	1168	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	EPHA4_ENST00000409938.1_Missense_Mutation_p.K376M|EPHA4_ENST00000392071.4_Missense_Mutation_p.K325M|EPHA4_ENST00000409854.1_Missense_Mutation_p.K376M	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	376	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTCGGCACTTGCTGGGGTC	0.517000													61	182					0	0	0.139131	0	0
PDZD3	79849	broad.mit.edu	37	11	119059095	119059095	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:119059095G>T	ENST00000531114.1	+	6	1641	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	PDZD3_ENST00000525131.1_Silent_p.L285L|PDZD3_ENST00000322712.4_Silent_p.L284L|PDZD3_ENST00000355547.5_Silent_p.L298L|PDZD3_ENST00000392817.2_Silent_p.L364L			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	364	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ACCCGGGACTGCCAGCCAAGA	0.642000													13	55					1.3612e-06	1.60103e-06	0.132662	1	0
ZNF519	162655	broad.mit.edu	37	18	14106206	14106206	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:14106206T>C	ENST00000590202.1	-	3	485	c.333A>G	c.(331-333)aaA>aaG	p.K111K	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CAGTTAAATGTTTGTTATGAC	0.333000													12	51					0	0	0.093190	0	0
SEL1L2	80343	broad.mit.edu	37	20	13846030	13846030	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:13846030A>G	ENST00000284951.5	-	16	1609	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	512						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCTTTGAGCTACTTCATACCC	0.383000													31	76					0	0	0.054565	0	0
GPM6A	2823	broad.mit.edu	37	4	176622906	176622906	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:176622906C>A	ENST00000280187.7	-	3	95	c.50G>T	c.(49-51)tGc>tTc	p.C17F	GPM6A_ENST00000506894.1_Missense_Mutation_p.C6F|GPM6A_ENST00000515090.1_Missense_Mutation_p.C10F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C17F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	17						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTTGATACAGCATTCAAAACA	0.428000													8	73					0.000157383	0.000173543	0.038147	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159486	18159486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:18159486G>C	ENST00000396275.2	+	3	1098	c.737G>C	c.(736-738)tGg>tCg	p.W246S		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CACCTGGATTGGAAAGTCTTA	0.507000													5	52					0	0	0.014758	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													3	32					0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13788883	13788883	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13788883C>T	ENST00000265104.4	-	51	8693	c.8589G>A	c.(8587-8589)gtG>gtA	p.V2863V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2863					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)					TTCCACAATCCACCAAGAGTT	0.413000									Kartagener syndrome				38	86					0	0	0.080422	0	0
AP3D1	8943	broad.mit.edu	37	19	2112894	2112894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:2112894C>T	ENST00000355272.6	-	24	2958	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	AP3D1_ENST00000345016.5_Intron|AP3D1_ENST00000356926.4_Missense_Mutation_p.E815K|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	872					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCCTCCTCGCCCTGCGCC	0.667000													8	38					0	0	0.038147	0	0
LRFN3	79414	broad.mit.edu	37	19	36430643	36430643	+	Silent	SNP	C	C	T	rs112518812		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36430643C>T	ENST00000588831.1	+	3	1370	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	LRFN3_ENST00000246529.3_Silent_p.L106L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	106					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCGCCGACCTGCGGGCCCT	0.706000													5	28					0	0	0.021553	0	0
DENND1A	57706	broad.mit.edu	37	9	126219701	126219701	+	Missense_Mutation	SNP	C	C	T	rs139898166		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:126219701C>T	ENST00000373624.2	-	15	1313	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	DENND1A_ENST00000394219.3_Missense_Mutation_p.R339Q|DENND1A_ENST00000373618.1_Missense_Mutation_p.R339Q|DENND1A_ENST00000394215.2_Missense_Mutation_p.R341Q|DENND1A_ENST00000373620.3_Missense_Mutation_p.R371Q|DENND1A_ENST00000542603.1_Missense_Mutation_p.R113Q|DENND1A_ENST00000473039.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGATCTAATCGACCATCAAT	0.433000													7	98					0	0	0.029380	0	0
DLC1	10395	broad.mit.edu	37	8	12943411	12943411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:12943411G>T	ENST00000276297.4	-	18	4905	c.4496C>A	c.(4495-4497)tCt>tAt	p.S1499Y	DLC1_ENST00000512044.2_Missense_Mutation_p.S1096Y|DLC1_ENST00000520226.1_Missense_Mutation_p.S988Y|DLC1_ENST00000358919.2_Missense_Mutation_p.S1062Y|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1499	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATGTCCAAAAGATTTTGTGTA	0.378000													20	49					1.01871e-10	1.31053e-10	0.049695	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750005	140750005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:140750005G>T	ENST00000576222.1	+	1	175	c.44G>T	c.(43-45)cGa>cTa	p.R15L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGAGGCGAATGCTATTT	0.552000													17	31					1.15088e-07	1.40033e-07	0.146539	1	0
TTN	7273	broad.mit.edu	37	2	179395327	179395327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:179395327C>T	ENST00000589042.1	-	358	106239	c.106015G>A	c.(106015-106017)Gat>Aat	p.D35339N	TTN_ENST00000342992.6_Missense_Mutation_p.D32771N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26274N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33698N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26399N|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26466N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33698							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)			TAGGTACCATCTGCTGAATAA	0.393000													3	61					0	0	0.115264	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960179	152960179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:152960179C>G	ENST00000253122.5	+	12	2078	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	SLC6A8_ENST00000430077.2_Missense_Mutation_p.I419M|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	534					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGTAGGGCATCTTCATCTTCA	0.642000													10	30					0	0	0.058154	0	0
OR6B1	135946	broad.mit.edu	37	7	143701665	143701665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:143701665G>T	ENST00000408922.2	+	1	644	c.576G>T	c.(574-576)atG>atT	p.M192I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCACAGACATGTCCATAACTG	0.458000													13	95					0.0167234	0.0172832	0.105934	1	0
RPE65	6121	broad.mit.edu	37	1	68896799	68896799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:68896799G>A	ENST00000262340.5	-	13	1452	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	467					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGTTCTGATGGGTATGAATCA	0.393000													19	36					0	0	0.062417	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19475473	19475473	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:19475473C>T	ENST00000538714.1	+	17	2189	c.2185C>T	c.(2185-2187)Cta>Tta	p.L729L	PLEKHA5_ENST00000429027.2_Silent_p.L774L|PLEKHA5_ENST00000299275.6_Silent_p.L671L|PLEKHA5_ENST00000359180.3_Silent_p.L671L|PLEKHA5_ENST00000355397.3_Silent_p.L729L|PLEKHA5_ENST00000539256.1_Silent_p.L429L|PLEKHA5_ENST00000543806.1_Silent_p.L590L|PLEKHA5_ENST00000317589.4_Silent_p.L671L|PLEKHA5_ENST00000424268.1_Silent_p.L602L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	676							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCAAGCTTTGCTATCAGCCAG	0.363000													28	47					0	0	0.116897	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570560	53570560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:53570560T>A	ENST00000025008.5	-	14	2441	c.1918A>T	c.(1918-1920)Aag>Tag	p.K640*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.K640*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.K640*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	640					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAATTTGCCTTTTGTTCACTC	0.378000													26	84					0	0	0.050027	0	0
PHKA2	5256	broad.mit.edu	37	X	18972377	18972377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18972377C>A	ENST00000379942.4	-	2	897	c.232G>T	c.(232-234)Gag>Tag	p.E78*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	78					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATTACCTGCTCCAGCTCGTAG	0.542000													30	75					2.61193e-14	3.70774e-14	0.144211	1	0
DMD	1756	broad.mit.edu	37	X	32716006	32716006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:32716006C>T	ENST00000357033.4	-	9	1147	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	DMD_ENST00000378677.2_Missense_Mutation_p.R310Q|DMD_ENST00000288447.4_Missense_Mutation_p.R306Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATGGGCTCCGTGTAGGGTC	0.453000													5	15					0	0	0.029380	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080663	79080663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:79080663C>T	ENST00000388820.4	-	8	1442	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	411	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATGAAAGGTCGTTTCCCAAC	0.612000													39	79					0	0	0.086207	0	0
MYO16	23026	broad.mit.edu	37	13	109779811	109779811	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:109779811C>A	ENST00000356711.2	+	31	4024	c.3898C>A	c.(3898-3900)Cca>Aca	p.P1300T	MYO16_ENST00000357550.2_Missense_Mutation_p.P1300T|MYO16_ENST00000457511.2_Missense_Mutation_p.P812T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1300					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGCCCAAGCCAAAGAGGGA	0.657000													10	13					2.17888e-05	2.46873e-05	0.058154	1	0
CIZ1	25792	broad.mit.edu	37	9	130941207	130941207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:130941207C>T	ENST00000538431.1	-	8	1526	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	CIZ1_ENST00000277465.4_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.V427I|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000372938.5_Missense_Mutation_p.V427I|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.V398I|CIZ1_ENST00000541172.1_Missense_Mutation_p.V326I|CIZ1_ENST00000476727.2_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	427	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGTGTCTGGACCTGCTTCTGC	0.627000													5	119					0	0	0.014758	0	0
HPSE2	60495	broad.mit.edu	37	10	100904156	100904156	+	Splice_Site	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:100904156T>A	ENST00000370552.3	-	3	508	c.448_splice	c.e3-1	p.D150_splice	HPSE2_ENST00000370549.1_Splice_Site_p.D150_splice|HPSE2_ENST00000370546.1_Splice_Site_p.D150_splice|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	150					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGAACAATGTCTACAAAAAG	0.388000													12	58					0	0	0.105934	0	0
C6orf118	168090	broad.mit.edu	37	6	165706833	165706833	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:165706833C>G	ENST00000543069.1	-	6	1458	c.877G>C	c.(877-879)Gtg>Ctg	p.V293L	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGCAGCCACACTGCAGCAGCT	0.498000													10	47					0	0	0.069234	0	0
DENND4B	9909	broad.mit.edu	37	1	153910068	153910068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:153910068G>A	ENST00000361217.4	-	15	2546	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	710										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACTCAGCCCGTAGCTCTGGG	0.612000													12	38					0	0	0.093190	0	0
CTNND2	1501	broad.mit.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11565132C>T	ENST00000304623.8	-	3	400	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A71T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502000													6	38					0	0	0.021553	0	0
WDR17	116966	broad.mit.edu	37	4	177071267	177071267	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:177071267A>G	ENST00000393643.2	+	15	2373	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	WDR17_ENST00000508596.1_Silent_p.E707E|WDR17_ENST00000507824.2_Silent_p.E714E|WDR17_ENST00000280190.4_Silent_p.E731E	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	731										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGAAATAGAAAAACTAACTG	0.348000													8	29					0	0	0.038147	0	0
COL25A1	84570	broad.mit.edu	37	4	110223145	110223145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:110223145C>T	ENST00000399132.1	-	2	561	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G11R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G11R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	11						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCCGGCCCCCTCCTTTCCCT	0.637000													9	34					0	0	0.058154	0	0
FAM63A	55793	broad.mit.edu	37	1	150974779	150974779	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:150974779C>G	ENST00000361936.5	-	3	1269	c.315G>C	c.(313-315)agG>agC	p.R105S	FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Missense_Mutation_p.R10S|FAM63A_ENST00000361738.6_Missense_Mutation_p.R153S|FAM63A_ENST00000312210.5_5'UTR	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	105							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTGTCGGGTCCTGGGGGACT	0.577000													8	85					0	0	0.058154	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	80					0	0	0.021553	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184932	175184932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:175184932G>C	ENST00000454872.1	+	8	1621	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	498					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCTTGGGGAGGAACAGCTTTT	0.388000													7	102					0	0	0.038147	0	0
CAPN9	10753	broad.mit.edu	37	1	230903376	230903376	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:230903376C>A	ENST00000354537.1	+	5	708	c.626C>A	c.(625-627)aCt>aAt	p.T209N	CAPN9_ENST00000366666.2_Missense_Mutation_p.T146N|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.T209N	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	209	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACCTTCCAAACTAAAGAGGCC	0.542000													32	97					1.62565e-12	2.18226e-12	0.050027	1	0
HCN2	610	broad.mit.edu	37	19	608035	608035	+	Silent	SNP	C	C	T	rs145436026	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:608035C>T	ENST00000251287.2	+	4	1343	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	430					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCGGGTACGGCCGGCAGG	0.617000													7	50					0	0	0.105934	0	0
SCN5A	6331	broad.mit.edu	37	3	38597251	38597251	+	Splice_Site	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:38597251A>G	ENST00000413689.1	-	26	4631	c.4437_splice	c.e26-1	p.L1480_splice	SCN5A_ENST00000451551.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000450102.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000449557.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000443581.1_Splice_Site_p.L1479_splice|SCN5A_ENST00000425664.1_Splice_Site_p.L1462_splice|SCN5A_ENST00000423572.2_Splice_Site_p.L1479_splice|SCN5A_ENST00000414099.2_Splice_Site_p.L1462_splice|SCN5A_ENST00000333535.4_Splice_Site_p.L1480_splice|SCN5A_ENST00000455624.2_Splice_Site_p.L1479_splice	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1480				LG -> IR (in Ref. 7; ABQ01244).	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGCCCCCTAAGTGCAAAGAG	0.557000													17	26					0	0	0.033300	0	0
ZNF536	9745	broad.mit.edu	37	19	30936564	30936564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:30936564G>A	ENST00000355537.3	+	2	2242	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGAGCGGGGTCGGAGG	0.697000													14	13					0	0	0.132662	0	0
NXPH4	11247	broad.mit.edu	37	12	57619381	57619381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:57619381G>A	ENST00000349394.5	+	2	953	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	260	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGCTTCACCGAGCACACGCA	0.567000													16	24					0	0	0.146539	0	0
DLG2	1740	broad.mit.edu	37	11	83770475	83770475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:83770475G>A	ENST00000398309.2	-	6	957	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	DLG2_ENST00000543673.1_Missense_Mutation_p.H268Y|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.H163Y|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.H102Y|DLG2_ENST00000376104.2_Missense_Mutation_p.H268Y|DLG2_ENST00000524982.1_Missense_Mutation_p.H163Y|DLG2_ENST00000280241.8_Missense_Mutation_p.H202Y|DLG2_ENST00000531015.1_Missense_Mutation_p.H130Y|DLG2_ENST00000418306.2_Missense_Mutation_p.H112Y|DLG2_ENST00000398301.2_Missense_Mutation_p.H202Y	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	163	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTTTACTGTGGGAAACCTCT	0.473000													7	44					0	0	0.029380	0	0
INPP4B	8821	broad.mit.edu	37	4	143191916	143191916	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:143191916C>G	ENST00000513000.1	-	11	948	c.515G>C	c.(514-516)gGt>gCt	p.G172A	INPP4B_ENST00000262992.4_Missense_Mutation_p.G172A|INPP4B_ENST00000509777.1_Missense_Mutation_p.G172A|INPP4B_ENST00000508116.1_Missense_Mutation_p.G172A|INPP4B_ENST00000308502.4_Missense_Mutation_p.G172A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	172					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACTTTGCCACCATCTGAAGT	0.448000													4	55					0	0	0.014758	0	0
SNRPC	6631	broad.mit.edu	37	6	34741320	34741320	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:34741320G>A	ENST00000374017.3	+	5	803	c.516G>A	c.(514-516)cgG>cgA	p.R172R	SNRPC_ENST00000374018.1_Silent_p.R110R|SNRPC_ENST00000244520.5_Silent_p.R151R			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	151					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGCCCACTCGGCCCGGAATGA	0.557000													10	47					0	0	0.058154	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424009	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:40424009C>A	ENST00000221347.6	-	4	2201	c.2194G>T	c.(2194-2196)Gtt>Ttt	p.V732F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	732			V -> A (in dbSNP:rs34181317).			extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617000													18	49					6.49762e-13	8.86692e-13	0.038395	1	0
ZNF286B	729288	broad.mit.edu	37	17	18565761	18565761	+	Missense_Mutation	SNP	C	C	T	rs150903875	by1000genomes	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:18565761C>T	ENST00000545289.1	-	5	1308	c.1058G>A	c.(1057-1059)aGg>aAg	p.R353K		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTCATAAGGCCTCACTCCAGT	0.358000													3	19					0	0	0.021553	0	0
BCOR	54880	broad.mit.edu	37	X	39913236	39913236	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913236C>A	ENST00000342274.4	-	14	5139	c.4777G>T	c.(4777-4779)Gat>Tat	p.D1593Y	BCOR_ENST00000378463.1_Missense_Mutation_p.D470Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1575Y|BCOR_ENST00000397354.3_Missense_Mutation_p.D1593Y|BCOR_ENST00000378444.4_Missense_Mutation_p.D1627Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1627					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCATCATCATCCTGGTCTTCT	0.448000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	21					5.9392e-07	7.0528e-07	0.021553	1	0
DARC	2532	broad.mit.edu	37	1	159175705	159175705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:159175705C>G	ENST00000537147.1	+	3	1319	c.476C>G	c.(475-477)gCa>gGa	p.A159G	DARC_ENST00000368122.2_Missense_Mutation_p.A159G|DARC_ENST00000368121.2_Missense_Mutation_p.A161G			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	159					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGACTGGGTGCAGGCCAGGTC	0.632000													3	28					0	0	0.115264	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985328	54985328	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54985328G>T	ENST00000375006.3	-	5	485	c.415C>A	c.(415-417)Cga>Aga	p.R139R	PFKFB1_ENST00000374992.2_Silent_p.R117R|PFKFB1_ENST00000545676.1_Silent_p.R74R	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	139	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						AGTGACCGTCGTTCTCTGGTA	0.453000													32	98					1.26612e-14	1.8182e-14	0.059317	1	0
MYH15	22989	broad.mit.edu	37	3	108195314	108195314	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108195314A>T	ENST00000273353.3	-	13	1279	c.1223T>A	c.(1222-1224)gTa>gAa	p.V408E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	408	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAGCACTTTACCAACTCAGA	0.383000													4	34					0	0	0.009096	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501091	220501091	+	Silent	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:220501091C>G	ENST00000358055.3	+	15	2771	c.2259C>G	c.(2257-2259)ctC>ctG	p.L753L	SLC4A3_ENST00000317151.3_Silent_p.L753L|SLC4A3_ENST00000273063.6_Silent_p.L780L|SLC4A3_ENST00000373762.3_Silent_p.L780L|SLC4A3_ENST00000373760.2_Silent_p.L753L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	753	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGTCCTCTTCTCTCTGC	0.622000													21	52					0	0	0.049695	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32926132	32926132	+	Splice_Site	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:32926132A>G	ENST00000361627.3	+	10	1957		c.e10-1		ARHGAP11A_ENST00000565905.1_Splice_Site|ARHGAP11A_ENST00000543522.1_Splice_Site|ARHGAP11A_ENST00000567348.1_Splice_Site|ARHGAP11A_ENST00000563864.1_Splice_Site	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CACTTCTTCTAGAGTGGAATC	0.333000													6	8					0	0	0.029380	0	0
ERCC4	2072	broad.mit.edu	37	16	14024633	14024633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:14024633G>A	ENST00000311895.7	+	5	868	c.859G>A	c.(859-861)Gat>Aat	p.D287N	ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA|ERCC4_ENST00000575156.1_Missense_Mutation_p.D287N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	287	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTAGTTCAGGATTTGAAGAT	0.373000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	35					0	0	0.115264	0	0
DACT1	51339	broad.mit.edu	37	14	59105250	59105250	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:59105250G>T	ENST00000395153.3	+	1	477	c.330G>T	c.(328-330)ctG>ctT	p.L110L	DACT1_ENST00000395151.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000335867.4_Silent_p.L110L|DACT1_ENST00000556859.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	110					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACATCTTGCTGCTAAGAAAGC	0.687000													5	10					5.9392e-07	7.0528e-07	0.021553	1	0
COL5A1	1289	broad.mit.edu	37	9	137642722	137642722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:137642722G>T	ENST00000371817.3	+	13	2070	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	552	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTCCAGCAGGCCAGGGTGA	0.632000													10	14					0.0692343	0.0706648	0.069234	1	0
TYW3	127253	broad.mit.edu	37	1	75199080	75199080	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:75199080G>T	ENST00000370867.3	+	1	241	c.152G>T	c.(151-153)gGc>gTc	p.G51V	CRYZ_ENST00000417775.1_5'UTR|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.G51V|TYW3_ENST00000421739.2_Missense_Mutation_p.G51V	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	51					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TCCTGCGCTGGCCGCATCCTA	0.587000													4	29					0.014758	0.0153161	0.014758	1	0
LRP1B	53353	broad.mit.edu	37	2	141208173	141208173	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:141208173C>A	ENST00000389484.3	-	63	10992	c.10021G>T	c.(10021-10023)Gac>Tac	p.D3341Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3341	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3341Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACCACAGTCATCCACGGTG	0.358000										TSP Lung(27;0.18)			18	51					8.34094e-07	9.85747e-07	0.049695	1	0
CACNA2D1	781	broad.mit.edu	37	7	81626562	81626562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:81626562G>T	ENST00000356860.3	-	19	1933	c.1595C>A	c.(1594-1596)cCc>cAc	p.P532H	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P551H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	551	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGAGATTTGGGGTTCTACAC	0.333000													23	89					5.45024e-15	7.87257e-15	0.083992	1	0
FIBCD1	84929	broad.mit.edu	37	9	133799269	133799269	+	Splice_Site	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:133799269T>A	ENST00000372338.4	-	4	955		c.e4-2		FIBCD1_ENST00000372337.2_Splice_Site|FIBCD1_ENST00000253018.4_Splice_Site|FIBCD1_ENST00000448616.1_Splice_Site	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1						signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGGGAGCCTGAGGGAGGCA	0.647000													8	64					0	0	0.058154	0	0
OR1N2	138882	broad.mit.edu	37	9	125315468	125315468	+	Missense_Mutation	SNP	G	G	A	rs141317564		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:125315468G>A	ENST00000373688.2	+	1	78	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTATCTGCGCAGATCACAC	0.433000													9	66					0	0	0.047766	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170173	107170173	+	RNA	SNP	C	C	G	rs150196675	by1000genomes	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:107170173C>G	ENST00000390633.2	-	0	169																											GAGACCTTCACCGAGGACCCA	0.582000													4	138					0	0	0.009096	0	0
NAA10	8260	broad.mit.edu	37	X	153195468	153195468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:153195468C>A	ENST00000464845.1	-	8	998	c.680G>T	c.(679-681)aGc>aTc	p.S227I	NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.S212I	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	227					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGCCTCTGAGCTGTCCTTGAC	0.602000													5	62					0.00116845	0.00123336	0.021553	1	0
GYPC	2995	broad.mit.edu	37	2	127447862	127447862	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127447862C>A	ENST00000259254.4	+	2	412	c.81C>A	c.(79-81)acC>acA	p.T27T	GYPC_ENST00000356887.7_Silent_p.T6T|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Intron	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	27						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CTGCCTCCACCACAATGCATA	0.532000													8	38					0.000442599	0.000481595	0.058154	1	0
MUT	4594	broad.mit.edu	37	6	49425487	49425487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:49425487C>A	ENST00000274813.3	-	3	797	c.670G>T	c.(670-672)Gaa>Taa	p.E224*		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	224					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCATAAATTCCTTTAGTATA	0.328000													17	25					8.60227e-14	1.20043e-13	0.146539	1	0
CSMD3	114788	broad.mit.edu	37	8	113599379	113599379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113599379G>T	ENST00000297405.5	-	23	4045	c.3801C>A	c.(3799-3801)tgC>tgA	p.C1267*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C1163*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1227*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1267*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1267	CUB 7.					integral to membrane|plasma membrane				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						TACTATAAATGCATTCATGGT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	66					2.21704e-12	2.96004e-12	0.076483	1	0
KIAA1033	23325	broad.mit.edu	37	12	105515902	105515902	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:105515902G>A	ENST00000332180.5	+	10	759	c.672G>A	c.(670-672)ctG>ctA	p.L224L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	224					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAAGGTTACTGAAATCTGTCC	0.279000													7	64					0	0	0.029380	0	0
OR10A3	26496	broad.mit.edu	37	11	7960207	7960207	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:7960207C>T	ENST00000360759.3	-	1	934	c.861G>A	c.(859-861)ccG>ccA	p.P287P		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGATGAGCGGATTGAGCA	0.413000													19	42					0	0	0.043863	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674889	9674889	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:9674889G>A	ENST00000330255.4	-	6	867	c.855C>T	c.(853-855)taC>taT	p.Y285Y	DHRS7C_ENST00000571134.1_Silent_p.Y284Y	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	285						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AGGTGCGGACGTACACGGCGG	0.612000													4	14					0	0	0.014758	0	0
DLG4	1742	broad.mit.edu	37	17	7106115	7106115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:7106115C>T	ENST00000485100.1	-	8	925	c.885G>A	c.(883-885)atG>atA	p.M295I	DLG4_ENST00000399510.2_Intron|DLG4_ENST00000399506.2_Intron|DLG4_ENST00000302955.6_Intron			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTGGCTATTTCATAGGGAATA	0.458000													4	10					0	0	0.009096	0	0
FGD1	2245	broad.mit.edu	37	X	54472832	54472832	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54472832G>C	ENST00000375135.3	-	18	3329	c.2596C>G	c.(2596-2598)Cgc>Ggc	p.R866G		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	866	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCAGGCTGCGCTGGGCTTTC	0.632000													10	24					0	0	0.069234	0	0
CTNND2	1501	broad.mit.edu	37	5	11111052	11111052	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11111052A>C	ENST00000304623.8	-	14	2570	c.2381T>G	c.(2380-2382)cTc>cGc	p.L794R	CTNND2_ENST00000458100.2_Missense_Mutation_p.L361R|CTNND2_ENST00000503622.1_Missense_Mutation_p.L457R|CTNND2_ENST00000511377.1_Missense_Mutation_p.L703R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.L794R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	794					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCGCCACAGAGTAGCCCGTC	0.552000													34	224					0	0	0.069456	0	0
GLYATL1	92292	broad.mit.edu	37	11	58715400	58715400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:58715400C>A	ENST00000300079.5	+	4	291	c.241C>A	c.(241-243)Cct>Act	p.P81T	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P50T|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	50						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGATTCCTGGCCTGAATATCA	0.547000													12	49					1.5842e-08	1.94675e-08	0.105934	1	0
OR2W3	343171	broad.mit.edu	37	1	248058896	248058896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:248058896G>A	ENST00000537741.1	+	3	265	c.8G>A	c.(7-9)gGa>gAa	p.G3E	OR2W3_ENST00000360358.3_Missense_Mutation_p.G3E			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			GAGATGGATGGAACCAATGGC	0.433000													6	24					0	0	0.021553	0	0
ATP2C1	27032	broad.mit.edu	37	3	130683878	130683878	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:130683878C>T	ENST00000510168.1	+	14	1661	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	ATP2C1_ENST00000428331.2_Silent_p.L371L|ATP2C1_ENST00000513801.1_Silent_p.L355L|ATP2C1_ENST00000359644.3_Silent_p.L371L|ATP2C1_ENST00000507488.2_Silent_p.L355L|ATP2C1_ENST00000505330.1_Silent_p.L355L|ATP2C1_ENST00000504948.1_Silent_p.L355L|ATP2C1_ENST00000504381.1_Silent_p.L316L|ATP2C1_ENST00000422190.2_Silent_p.L371L|ATP2C1_ENST00000508532.1_Silent_p.L371L|ATP2C1_ENST00000328560.8_Silent_p.L371L|ATP2C1_ENST00000393221.4_Silent_p.L405L|ATP2C1_ENST00000533801.2_Silent_p.L366L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	371					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCAGATGGTCTGCATGCTGA	0.343000									Hailey-Hailey disease				6	50					0	0	0.021553	0	0
RGS18	64407	broad.mit.edu	37	1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274000													12	25					0	0	0.105934	0	0
COG5	10466	broad.mit.edu	37	7	106898718	106898718	+	Splice_Site	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:106898718C>T	ENST00000393603.2	-	15	2050	c.1779_splice	c.e15+1	p.K593_splice	COG5_ENST00000347053.3_Splice_Site_p.K593_splice|COG5_ENST00000297135.3_Splice_Site_p.K593_splice	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	592					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						aaataGTTACCTTTGTTACTG	0.313000													8	80					0	0	0.038147	0	0
MORC1	27136	broad.mit.edu	37	3	108688550	108688550	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108688550T>A	ENST00000232603.5	-	26	2652	c.2570A>T	c.(2569-2571)cAg>cTg	p.Q857L	MORC1_ENST00000483760.1_Missense_Mutation_p.Q836L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTGTTCATCTGCTCTGGGCA	0.363000													10	56					0	0	0.069234	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896824	89896824	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:89896824C>A	ENST00000525171.1	+	8	1068	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000534061.1_Intron			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	0	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTTTTTGGTCAACAGGGAAC	0.348000													12	25					7.03913e-09	8.73701e-09	0.093190	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211999	90211999	+	RNA	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:90211999C>A	ENST00000390277.2	+	0	188																											TCCAGCCACCCTGTCTTTGTC	0.498000													8	33					3.07112e-06	3.5951e-06	0.080935	1	0
GGA1	26088	broad.mit.edu	37	22	38016247	38016247	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:38016247T>C	ENST00000406772.1	+	6	739	c.87T>C	c.(85-87)taT>taC	p.Y29Y	GGA1_ENST00000325180.8_Silent_p.Y102Y|GGA1_ENST00000343632.4_Silent_p.Y102Y|GGA1_ENST00000337437.4_Silent_p.Y69Y|GGA1_ENST00000381756.5_Silent_p.Y119Y	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	102	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCTGAAGTATCTGGGCTCTC	0.592000													51	89					0	0	0.139131	0	0
SIN3B	23309	broad.mit.edu	37	19	16977364	16977364	+	Silent	SNP	C	C	T	rs138346712	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:16977364C>T	ENST00000379803.1	+	13	1913	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	SIN3B_ENST00000595541.1_Silent_p.D191D|SIN3B_ENST00000248054.5_Silent_p.D601D	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	633					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTCTACGACGAGGTAAAGC	0.627000													17	22					0	0	0.146539	0	0
AMER3	205147	broad.mit.edu	37	2	131521962	131521962	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:131521962C>A	ENST00000423981.1	+	2	2427	c.2317C>A	c.(2317-2319)Cag>Aag	p.Q773K	AMER3_ENST00000321420.4_Missense_Mutation_p.Q773K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TGTGGAGGACCAGCCCTTGCA	0.672000													5	26					1.23904e-05	1.41034e-05	0.014758	1	0
ERCC5	2073	broad.mit.edu	37	13	103520608	103520608	+	Splice_Site	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:103520608G>C	ENST00000355739.4	+	12	4101		c.e12+1		ERCC5_ENST00000375954.1_Splice_Site|BIVM-ERCC5_ENST00000602836.1_Splice_Site	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAATTCTCGTAAGGTCTTT	0.373000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	44					0	0	0.115264	0	0
COL6A1	1291	broad.mit.edu	37	21	47423497	47423497	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:47423497C>A	ENST00000361866.3	+	35	2771	c.2657C>A	c.(2656-2658)cCa>cAa	p.P886Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	886	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGCAGCGCCCAGAGCGGGCG	0.687000													6	25					0.00116845	0.00123336	0.021553	1	0
MUC16	94025	broad.mit.edu	37	19	9062974	9062974	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9062974C>A	ENST00000397910.4	-	3	24675	c.24472G>T	c.(24472-24474)Gtc>Ttc	p.V8158F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8160	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGAGGTGACTTCTGTCCTG	0.542000													16	75					6.72482e-11	8.74227e-11	0.132662	1	0
ZNF318	24149	broad.mit.edu	37	6	43325349	43325349	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43325349C>T	ENST00000361428.2	-	3	780	c.703G>A	c.(703-705)Gat>Aat	p.D235N	ZNF318_ENST00000318149.3_Missense_Mutation_p.D235N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGACTATAATCAGATCGATGC	0.458000													13	91					0	0	0.119110	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777865	27777865	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:27777865A>T	ENST00000369163.2	+	1	24	c.14A>T	c.(13-15)aAg>aTg	p.K5M		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	5					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GCGCGTACGAAGCAGACTGCT	0.567000													20	35					0	0	0.069288	0	0
TGM4	7047	broad.mit.edu	37	3	44929184	44929184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:44929184C>G	ENST00000296125.4	+	3	265	c.197C>G	c.(196-198)cCg>cGg	p.P66R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	66					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTCCAGGGCCGAATCCTAGC	0.592000													18	22					0	0	0.033300	0	0
TRPC3	7222	broad.mit.edu	37	4	122836027	122836027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:122836027G>A	ENST00000264811.5	-	3	1448	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Nonsense_Mutation_p.Q417*	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	332					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTATGGTCTGCTCCCTTAGG	0.547000													5	26					0	0	0.014758	0	0
BCOR	54880	broad.mit.edu	37	X	39913587	39913587	+	Splice_Site	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913587C>T	ENST00000342274.4	-	13	5002		c.e13-1		BCOR_ENST00000378463.1_Splice_Site|BCOR_ENST00000378455.4_Splice_Site|BCOR_ENST00000397354.3_Splice_Site|BCOR_ENST00000378444.4_Splice_Site	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTAAATAATCTGGAGGGAGA	0.423000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	15					0	0	0.014758	0	0
ZNF836	162962	broad.mit.edu	37	19	52663759	52663759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:52663759C>A	ENST00000322146.8	-	4	622	c.101G>T	c.(100-102)tGg>tTg	p.W34L	ZNF836_ENST00000597065.1_Missense_Mutation_p.W34L|ZNF836_ENST00000597252.1_Missense_Mutation_p.W34L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATCACATCCCAGTACAAAGC	0.433000													12	84					0.00010058	0.000111405	0.093190	1	0
FAM135B	51059	broad.mit.edu	37	8	139164844	139164844	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:139164844T>A	ENST00000395297.1	-	13	2044	c.1874A>T	c.(1873-1875)gAg>gTg	p.E625V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	625										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCTTCCCCTCTTGATCTAT	0.463000										HNSCC(54;0.14)			12	107					0	0	0.080935	0	0
DVL1	1855	broad.mit.edu	37	1	1273764	1273764	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:1273764C>A	ENST00000378888.5	-	13	1676	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	DVL1_ENST00000378891.5_Silent_p.R439R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	464	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCCTCCCGCCGCTCCTTGA	0.657000													6	10					0.00198382	0.00208512	0.029380	1	0
C3	718	broad.mit.edu	37	19	6709693	6709693	+	Splice_Site	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:6709693A>T	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627000													16	168					0	0	0.033300	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985974	11985974	+	RNA	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:11985974G>C	ENST00000434078.2	+	0	608					NR_027425.1																						TTCAAGACAAGGATGAGGACC	0.478000													6	106					0	0	0.021553	0	0
MSR1	4481	broad.mit.edu	37	8	15978072	15978072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:15978072G>T	ENST00000262101.5	-	9	1198	c.1077C>A	c.(1075-1077)caC>caA	p.H359Q	MSR1_ENST00000445506.2_Missense_Mutation_p.H377Q|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	359	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.H359H(3)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCTCCCCTCGTGAGGGCCGC	0.483000													26	65					1.75199e-13	2.43113e-13	0.125774	1	0
CLCN4	1183	broad.mit.edu	37	X	10188916	10188916	+	Splice_Site	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:10188916G>T	ENST00000380833.4	+	12	2582	c.2192_splice	c.e12+1	p.G731_splice	CLCN4_ENST00000421085.2_Splice_Site_p.G637_splice|CLCN4_ENST00000380829.1_Splice_Site_p.G700_splice	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	731	CBS 2.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACGCGGAGCGGGTGAGTAGC	0.562000													21	56					1.55795e-14	2.22435e-14	0.062417	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3139838	3139838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:3139838G>A	ENST00000252463.2	-	5	1519	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R396C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R139C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	478					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGCTCGCTGCGCCGGAAGGCC	0.731000													3	9					0	0	0.115264	0	0
CDKL5	6792	broad.mit.edu	37	X	18616687	18616687	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18616687G>T	ENST00000379989.3	+	12	1216	c.931G>T	c.(931-933)Gca>Tca	p.A311S	CDKL5_ENST00000379996.3_Missense_Mutation_p.A311S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	311					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.A311T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCAAGGTCAGCAAAAAGAAA	0.408000													14	77					1.5842e-08	1.94675e-08	0.105934	1	0
FGD1	2245	broad.mit.edu	37	X	54482960	54482960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54482960A>T	ENST00000375135.3	-	9	2410	c.1677T>A	c.(1675-1677)aaT>aaA	p.N559K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	559	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGGCAGCATTCGAGTGCT	0.607000													3	28					0	0	0.115264	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661578	35661578	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:35661578G>C	ENST00000216106.5	+	5	1325	c.1197G>C	c.(1195-1197)gaG>gaC	p.E399D	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E290D	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	399					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						aggacaaagagagagagagag	0.463000													6	21					0	0	0.021553	0	0
GRIK2	2898	broad.mit.edu	37	6	102074485	102074485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:102074485G>T	ENST00000369138.1	+	3	1004	c.514G>T	c.(514-516)Gtc>Ttc	p.V172F	GRIK2_ENST00000421544.1_Missense_Mutation_p.V172F|GRIK2_ENST00000369137.3_Missense_Mutation_p.V172F|GRIK2_ENST00000413795.1_Missense_Mutation_p.V172F|GRIK2_ENST00000318991.6_Missense_Mutation_p.V172F|GRIK2_ENST00000369134.4_Missense_Mutation_p.V123F|GRIK2_ENST00000358361.3_Missense_Mutation_p.V172F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	172					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTGGAAAACCGTCACGGTTGT	0.408000													10	47					5.50884e-06	6.35833e-06	0.093190	1	0
ASXL1	171023	broad.mit.edu	37	20	31024686	31024686	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:31024686A>T	ENST00000375687.4	+	13	4595	c.4171A>T	c.(4171-4173)Agt>Tgt	p.S1391C	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1386C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1391					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TACTGGGCATAGTCCCCTGGA	0.542000			"""F, N, Mis"""		"""MDS, CMML"""								24	102					0	0	0.091800	0	0
GMPS	8833	broad.mit.edu	37	3	155623996	155623996	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:155623996T>C	ENST00000496455.1	+	5	805	c.470T>C	c.(469-471)gTa>gCa	p.V157A	GMPS_ENST00000295920.7_Missense_Mutation_p.V58A|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	157	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGATAGTGTAGACAAAGTA	0.323000			T	MLL	AML								90	109					0	0	0.139131	0	0
DSCAM	1826	broad.mit.edu	37	21	41711115	41711115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:41711115C>T	ENST00000400454.1	-	7	1915	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	480	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTAGACTCCCCCGTCCCGG	0.562000													17	26					0	0	0.038395	0	0
KEAP1	9817	broad.mit.edu	37	19	10610277	10610277	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:10610277T>A	ENST00000171111.5	-	2	980	c.433A>T	c.(433-435)Atc>Ttc	p.I145F	KEAP1_ENST00000393623.2_Missense_Mutation_p.I145F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	145	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCATGGAGATGGAGGCCGTG	0.592000													14	36					0	0	0.132662	0	0
ACY1	95	broad.mit.edu	37	3	52021202	52021202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:52021202G>A	ENST00000458031.2	+	12	1198	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ACY1_ENST00000476351.1_Missense_Mutation_p.E198K|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000494103.1_Missense_Mutation_p.E161K|ACY1_ENST00000404366.2_Missense_Mutation_p.E233K|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E334K			Q03154	ACY1_HUMAN	aminoacylase 1	233					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCGGGAGAAGGAATGGCAGAG	0.552000													48	58					0	0	0.139131	0	0
CDH8	1006	broad.mit.edu	37	16	61891110	61891110	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:61891110C>A	ENST00000577390.1	-	4	1534	c.580G>T	c.(580-582)Gct>Tct	p.A194S	CDH8_ENST00000577730.1_Missense_Mutation_p.A194S|CDH8_ENST00000299345.6_Missense_Mutation_p.A194S|CDH8_ENST00000584337.1_Missense_Mutation_p.A194S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	194	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A194T(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTCATCAGCGTCGGTCGCA	0.383000													18	52					7.07596e-05	7.90843e-05	0.038395	1	0
HUWE1	10075	broad.mit.edu	37	X	53619397	53619397	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:53619397G>A	ENST00000342160.3	-	32	4390	c.3933C>T	c.(3931-3933)tcC>tcT	p.S1311S	HUWE1_ENST00000218328.8_Silent_p.S1311S|HUWE1_ENST00000262854.6_Silent_p.S1311S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1311					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTTCCCGGCGGGAGCCACCTT	0.557000													28	75					0	0	0.108266	0	0
CSMD1	64478	broad.mit.edu	37	8	2855570	2855570	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:2855570G>A	ENST00000520002.1	-	55	8898	c.8343C>T	c.(8341-8343)agC>agT	p.S2781S	CSMD1_ENST00000602723.1_Silent_p.S2723S|CSMD1_ENST00000400186.3_Silent_p.S2723S|CSMD1_ENST00000602557.1_Silent_p.S2781S|CSMD1_ENST00000542608.1_Silent_p.S2722S|CSMD1_ENST00000537824.1_Silent_p.S2780S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2781	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGGCCGTTGCTCCGACACT	0.547000													6	40					0	0	0.021553	0	0
CRTC3	64784	broad.mit.edu	37	15	91185222	91185222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:91185222G>T	ENST00000420329.2	+	15	1854	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.E570D	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	570					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCCTGCCTGAGGTCAGCCTGA	0.562000			T	MAML2	salivary gland mucoepidermoid								7	59					1.26484e-09	1.59396e-09	0.038147	1	0
ZWILCH	55055	broad.mit.edu	37	15	66821212	66821212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:66821212C>T	ENST00000307897.5	+	11	1372	c.992C>T	c.(991-993)gCa>gTa	p.A331V	ZWILCH_ENST00000565627.1_Missense_Mutation_p.A217V|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A217V|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A217V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	331					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GACACTGCTGCAGTCGATCGT	0.408000													7	37					0	0	0.047766	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998840	8998840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:8998840C>A	ENST00000310455.3	-	2	472	c.322G>T	c.(322-324)Gag>Tag	p.E108*	PPP1R3B_ENST00000519699.1_Nonsense_Mutation_p.E108*	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	108					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACAAAGCTCTCGCTCTCTGCT	0.478000													12	56					5.50884e-06	6.35833e-06	0.093190	1	0
FUT9	10690	broad.mit.edu	37	6	96651233	96651233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:96651233G>T	ENST00000302103.5	+	3	528	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	68					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TACTATTCTGGTGTGGGTGTG	0.438000													15	61					4.7546e-09	5.93125e-09	0.146539	1	0
PTCHD3	374308	broad.mit.edu	37	10	27703080	27703080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:27703080G>A	ENST00000438700.3	-	1	217	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	34					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGATTCCTGAGATTCCTGG	0.682000													19	112					0	0	0.055883	0	0
HOXC6	3223	broad.mit.edu	37	12	54422697	54422697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:54422697C>T	ENST00000394331.3	+	2	1856	c.146C>T	c.(145-147)tCg>tTg	p.S49L	HOXC6_ENST00000243108.4_Missense_Mutation_p.S131L|HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	131					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGAATGAATTCGCACAGTGGT	0.473000													4	79					0	0	0.014758	0	0
SCML2	10389	broad.mit.edu	37	X	18283736	18283736	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18283736G>T	ENST00000251900.4	-	8	1076	c.917C>A	c.(916-918)cCa>cAa	p.P306Q	SCML2_ENST00000398048.3_Missense_Mutation_p.P42Q	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	306					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTTTTCCTTGGTGTGATATT	0.358000													15	169					0.000422831	0.000464175	0.146539	1	0
GYPC	2995	broad.mit.edu	37	2	127453707	127453707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127453707T>G	ENST00000259254.4	+	4	707	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	GYPC_ENST00000356887.7_Missense_Mutation_p.Y105D|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.Y107D	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	126						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGAAAGGAGTACTTTATTTG	0.552000													8	19					0	0	0.069234	0	0
DNAH5	1767	broad.mit.edu	37	5	13717426	13717426	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13717426T>G	ENST00000265104.4	-	73	12807	c.12703A>C	c.(12703-12705)Aag>Cag	p.K4235Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4235					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)					GGCAGTACCTTTTTGACATCC	0.507000									Kartagener syndrome				3	18					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578416	7578416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:7578416C>A	ENST00000420246.2	-	5	646	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	TP53_ENST00000455263.2_Missense_Mutation_p.V172F|TP53_ENST00000445888.2_Missense_Mutation_p.V172F|TP53_ENST00000269305.4_Missense_Mutation_p.V172F|TP53_ENST00000359597.4_Missense_Mutation_p.V172F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V172F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	172	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 sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (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.V172F(14)|p.0?(8)|p.V172I(7)|p.E171fs*2(3)|p.V172fs*2(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.V40F(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.V79F(1)|p.E171_V172delEV(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)		CGCCTCACAACCTCCGTCATG	0.662000		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)			28	32					7.01153e-11	9.06727e-11	0.125774	1	0
NOX4	50507	broad.mit.edu	37	11	89135493	89135493	+	Splice_Site	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:89135493C>A	ENST00000535633.1	-	9	1085		c.e9+1		NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTAATCTGACCTGTGGAAAA	0.353000													10	46					0.000673444	0.00072322	0.069234	1	0
CMTM3	123920	broad.mit.edu	37	16	66642247	66642247	+	Silent	SNP	G	G	A	rs149684359		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:66642247G>A	ENST00000424011.2	+	3	709	c.183G>A	c.(181-183)gcG>gcA	p.A61A	CMTM3_ENST00000565003.1_5'UTR|CMTM3_ENST00000361909.4_Silent_p.A61A|CMTM3_ENST00000564060.1_Silent_p.A61A|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000562707.1_Silent_p.A61A|CMTM3_ENST00000568477.1_5'UTR|CMTM3_ENST00000567572.1_Silent_p.A61A|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565666.1_5'UTR|CMTM3_ENST00000566121.1_5'UTR|CMTM3_ENST00000460097.1_5'UTR			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	61	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		GCTATGTGGCGTCCTCAGCAT	0.527000											OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	119					0	0	0.105934	0	0
CLIP3	25999	broad.mit.edu	37	19	36517871	36517871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36517871G>A	ENST00000360535.4	-	4	610	c.383C>T	c.(382-384)gCt>gTt	p.A128V	CLIP3_ENST00000593074.1_Missense_Mutation_p.A128V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	128					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGGCCCCAGCTTTGCACGC	0.617000													4	34					0	0	0.009096	0	0
SSPO	23145	broad.mit.edu	37	7	149522074	149522074	+	RNA	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:149522074T>C	ENST00000378016.2	+	0	13861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGTCTGTGGGGGCCATG	0.647000													3	10					0	0	0.115264	0	0
GRID1	2894	broad.mit.edu	37	10	87482808	87482808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:87482808G>T	ENST00000327946.7	-	12	2034	c.1949C>A	c.(1948-1950)gCc>gAc	p.A650D	GRID1_ENST00000536331.1_Missense_Mutation_p.A221D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	650						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCAAGGTTGGCTGTGTAGGA	0.562000										Multiple Myeloma(13;0.14)			7	21					8.12818e-05	9.04352e-05	0.029380	1	0
G2E3	55632	broad.mit.edu	37	14	31071100	31071100	+	Splice_Site	SNP	G	G	T	rs60676717		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:31071100G>T	ENST00000206595.6	+	9	1031	c.877_splice	c.e9+1	p.G293_splice	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Splice_Site_p.G247_splice|G2E3_ENST00000553504.1_Splice_Site_p.G323_splice	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	293					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTACAATTCAGGTAATTTTTT	0.318000													30	30					3.17567e-06	3.69995e-06	0.134883	1	0
SRGAP2	23380	broad.mit.edu	37	1	206631989	206631989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:206631989C>T	ENST00000414007.1	+	18	2108	c.2108C>T	c.(2107-2109)tCt>tTt	p.S703F	SRGAP2_ENST00000419187.2_Missense_Mutation_p.161_161insF			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	843					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CGTCCAGAATCTGGGAGCATC	0.582000													6	4					0	0	0.021553	0	0
CD84	8832	broad.mit.edu	37	1	160535331	160535331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160535331C>T	ENST00000368054.3	-	2	286	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.R84Q|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.R84Q|CD84_ENST00000311224.4_Missense_Mutation_p.R84Q|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.R84L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCATGTATCCGTTCATAATA	0.438000													23	146					0	0	0.083992	0	0
ANKRD27	84079	broad.mit.edu	37	19	33131245	33131245	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:33131245T>C	ENST00000306065.4	-	11	1109	c.951A>G	c.(949-951)ttA>ttG	p.L317L	ANKRD27_ENST00000587352.1_Silent_p.L317L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	317	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAGCAAGTATAACAGGACTG	0.448000													17	51					0	0	0.076483	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907135	101907135	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:101907135T>C	ENST00000374994.4	+	6	1212	c.1095T>C	c.(1093-1095)atT>atC	p.I365I	TGFBR1_ENST00000552516.1_Silent_p.I369I|TGFBR1_ENST00000550253.1_Silent_p.I296I|TGFBR1_ENST00000374990.2_Silent_p.I288I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAGATACCATTGATATTGCTC	0.348000													15	56					0	0	0.132662	0	0
KCNB2	9312	broad.mit.edu	37	8	73848938	73848938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:73848938G>A	ENST00000523207.1	+	3	1936	c.1348G>A	c.(1348-1350)Gtt>Att	p.V450I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	450			V -> I (in a colorectal cancer sample; somatic mutation).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V450I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGGAAGCATCGTTTCTATGAA	0.473000													30	89					0	0	0.144211	0	0
ATP1A4	480	broad.mit.edu	37	1	160124906	160124906	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160124906C>A	ENST00000368081.4	+	3	750	c.279C>A	c.(277-279)acC>acA	p.T93T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	93					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCCCCCACCACTCCAGAAT	0.527000													16	68					1.33834e-09	1.67802e-09	0.043863	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44266168	44266168	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:44266168T>A	ENST00000315087.7	-	5	1198	c.538A>T	c.(538-540)Agg>Tgg	p.R180W	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R149W|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R216W	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	180					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TTGATCTCCCTCCCGCAGCGG	0.587000													5	48					0	0	0.021553	0	0
SRRM3	222183	broad.mit.edu	37	7	75912371	75912371	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:75912371A>G	ENST00000388802.4	+	14	1894	c.1685A>G	c.(1684-1686)aAg>aGg	p.K562R	SRRM3_ENST00000326382.8_Missense_Mutation_p.K562R					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CCCATCCGCAAGCGGCGCCGG	0.761000													4	11					0	0	0.009096	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	25					0	0	0.009096	0	0
ZIC4	84107	broad.mit.edu	37	3	147113700	147113700	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:147113700C>A	ENST00000383075.3	-	3	1139	c.627G>T	c.(625-627)ccG>ccT	p.P209P	ZIC4_ENST00000484399.1_Silent_p.P209P|ZIC4_ENST00000425731.3_Silent_p.P247P|ZIC4_ENST00000473123.1_Silent_p.P209P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.P259P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	209						nucleus	DNA binding|zinc ion binding	p.P209P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCACACCCCGGGAAAGGAC	0.532000													18	107					6.94344e-10	8.84036e-10	0.038395	1	0
FAR2P2	100216479	broad.mit.edu	37	2	131176696	131176696	+	RNA	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:131176696C>A	ENST00000424873.1	-	0	473					NR_046260.1																						ATGGCAGGGGCCTGCTGGCTG	0.488000													6	9					0.00116845	0.00123336	0.021553	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597000													4	153					0	0	0.105934	0	0
LETM2	137994	broad.mit.edu	37	8	38261968	38261968	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:38261968A>T	ENST00000379957.4	+	8	1289	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	LETM2_ENST00000524874.1_Missense_Mutation_p.T340S|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.T341S|LETM2_ENST00000527710.1_Missense_Mutation_p.T174S|LETM2_ENST00000297720.5_Missense_Mutation_p.T293S	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	388						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTGTCCCGCACCTTCTACCT	0.557000													20	45					0	0	0.069288	0	0
DZANK1	55184	broad.mit.edu	37	20	18379176	18379176	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:18379176C>T	ENST00000357236.4	-	15	1844	c.1185G>A	c.(1183-1185)agG>agA	p.R395R	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000377630.5_Silent_p.R342R|DZANK1_ENST00000329494.5_Silent_p.R511R|DZANK1_ENST00000262547.5_Silent_p.R509R			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	336						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCTTTCCCATCCTGGGTTCTG	0.512000													23	72					0	0	0.076483	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602314	48602314	+	Missense_Mutation	SNP	C	C	T	rs140934764	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:48602314C>T	ENST00000323776.5	+	13	2003	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P577L	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	577					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTCTTGACCCCGGAGCGCACA	0.627000													25	62					0	0	0.099896	0	0
CD163	9332	broad.mit.edu	37	12	7649408	7649408	+	Splice_Site	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:7649408C>G	ENST00000359156.4	-	5	1302		c.e5+1		CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000432237.2_Splice_Site|CD163_ENST00000541972.1_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTTAACTTACCAGAACATGT	0.413000													9	73					0	0	0.058154	0	0
PRH1	5554	broad.mit.edu	37	12	11034867	11034867	+	Silent	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:11034867T>A	ENST00000428168.2	-	4	505	c.468A>T	c.(466-468)ccA>ccT	p.P156P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	156						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGTCCTTGTGGGCGGCCCC	0.572000													32	147					0	0	0.131918	0	0
OR5F1	338674	broad.mit.edu	37	11	55761981	55761981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:55761981C>T	ENST00000278409.1	-	1	120	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCGAGATTTCCCAGTACTGTA	0.433000													17	42					0	0	0.146539	0	0
MUC16	94025	broad.mit.edu	37	19	9059076	9059076	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9059076T>C	ENST00000397910.4	-	3	28573	c.28370A>G	c.(28369-28371)cAc>cGc	p.H9457R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9459	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGAGGAGTGGCTACTCCC	0.498000													20	79					0	0	0.091800	0	0
SLC25A14	9016	broad.mit.edu	37	X	129484680	129484680	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:129484680T>C	ENST00000543953.1	+	5	417	c.368T>C	c.(367-369)aTa>aCa	p.I123T	SLC25A14_ENST00000339231.3_Missense_Mutation_p.I155T|SLC25A14_ENST00000218197.5_Missense_Mutation_p.I158T|SLC25A14_ENST00000361980.5_Missense_Mutation_p.I155T|SLC25A14_ENST00000545805.1_Missense_Mutation_p.I158T|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	158					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TCTTCCACTATAGCCAATCCC	0.383000													6	58					0	0	0.021553	0	0
POLR1C	9533	broad.mit.edu	37	6	43488440	43488440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43488440G>A	ENST00000372389.3	+	7	821	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	POLR1C_ENST00000372344.2_Intron|POLR1C_ENST00000304004.3_Missense_Mutation_p.V245M	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	245					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCTTGAGCCCGTGGAAGGGGA	0.537000													6	105					0	0	0.021553	0	0
KIAA1161	57462	broad.mit.edu	37	9	34370855	34370855	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:34370855A>C	ENST00000297625.7	-	2	2210	c.1985T>G	c.(1984-1986)cTg>cGg	p.L662R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	696					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATCGGTGAGCAGCACCGGCGT	0.637000													13	15					0	0	0.093190	0	0
ASXL3	80816	broad.mit.edu	37	18	31322978	31322978	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:31322978G>T	ENST00000269197.5	+	12	3166	c.3166G>T	c.(3166-3168)Gat>Tat	p.D1056Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1056	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACCCTCGCAGATATCAAGGC	0.587000													4	9					1.23904e-05	1.41034e-05	0.014758	1	0
ISCU	23479	broad.mit.edu	37	12	108959132	108959132	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:108959132T>C	ENST00000535729.1	+	3	286	c.264T>C	c.(262-264)gcT>gcC	p.A88A	ISCU_ENST00000539593.1_Silent_p.A88A|ISCU_ENST00000547005.1_Silent_p.A88A|ISCU_ENST00000431221.2_Silent_p.A88A|ISCU_ENST00000392807.4_Silent_p.A63A|ISCU_ENST00000338291.4_Silent_p.A63A|ISCU_ENST00000311893.9_Silent_p.A88A			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	88					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TTGTGGATGCTAGGTTTAAAA	0.473000													5	48					0	0	0.014758	0	0
ATRX	546	broad.mit.edu	37	X	76938250	76938250	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:76938250G>T	ENST00000373344.5	-	9	2712	c.2498C>A	c.(2497-2499)gCt>gAt	p.A833D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A795D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	833					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTTCTGGcagcaccaatttt	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	154					2.37509e-13	3.27736e-13	0.055883	1	0
GLA	2717	broad.mit.edu	37	X	100656686	100656686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:100656686C>T	ENST00000218516.3	-	3	502	c.481G>A	c.(481-483)Gac>Aac	p.D161N	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	161					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ACTCCCCAGTCAGCAAAGGTC	0.433000													52	85					0	0	0.139131	0	0
ALX1	8092	broad.mit.edu	37	12	85680630	85680630	+	Splice_Site	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:85680630G>C	ENST00000316824.3	+	3	686		c.e3-1			NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1						brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		taaataattaGGTTTGGTTTC	0.318000													4	13					0	0	0.009096	0	0
ENPP2	5168	broad.mit.edu	37	8	120629736	120629736	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:120629736T>A	ENST00000427067.2	-	6	715	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	ENPP2_ENST00000259486.6_Missense_Mutation_p.S183C|ENPP2_ENST00000522826.1_Missense_Mutation_p.S183C|ENPP2_ENST00000075322.6_Missense_Mutation_p.S183C			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	183					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGACTTTGCTGCCTTTCTTC	0.398000													9	27					0	0	0.069234	0	0
PORCN	64840	broad.mit.edu	37	X	48374170	48374170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:48374170G>A	ENST00000367574.4	+	9	1271	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	PORCN_ENST00000359882.4_Missense_Mutation_p.A332T|PORCN_ENST00000537758.1_Missense_Mutation_p.A338T|PORCN_ENST00000355092.3_Missense_Mutation_p.A332T|PORCN_ENST00000326194.6_Missense_Mutation_p.A338T|PORCN_ENST00000355961.4_Missense_Mutation_p.A333T|PORCN_ENST00000361988.3_Missense_Mutation_p.A327T			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	338					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCAGCCAGCGCCCTCCTACA	0.567000													11	40					0	0	0.093190	0	0
CSMD3	114788	broad.mit.edu	37	8	113585863	113585863	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113585863C>T	ENST00000297405.5	-	24	4153	c.3909G>A	c.(3907-3909)acG>acA	p.T1303T	CSMD3_ENST00000455883.2_Silent_p.T1199T|CSMD3_ENST00000343508.3_Silent_p.T1263T|CSMD3_ENST00000352409.3_Silent_p.T1303T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1303	CUB 7.					integral to membrane|plasma membrane				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						GTAGATGAGTCGTTTTATCTT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	77					0	0	0.125774	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613818	14613818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:14613818G>A	ENST00000544627.1	+	9	2892	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	ATF7IP_ENST00000543189.1_Missense_Mutation_p.V849M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V850M|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V850M|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V849M			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	850					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CGTTCCTTCTGTGCCCAGTCC	0.478000													31	113					0	0	0.045705	0	0
CR2	1380	broad.mit.edu	37	1	207646235	207646235	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:207646235A>G	ENST00000367057.3	+	10	1878	c.1689A>G	c.(1687-1689)ggA>ggG	p.G563G	CR2_ENST00000367059.3_Silent_p.G563G|CR2_ENST00000458541.2_Silent_p.G536G|CR2_ENST00000367058.3_Silent_p.G563G	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	563	Sushi 9.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGAGGAGTGGAATTCA	0.507000													7	52					0	0	0.029380	0	0
ZNF264	9422	broad.mit.edu	37	19	57723895	57723895	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:57723895A>T	ENST00000263095.6	+	4	1844	c.1430A>T	c.(1429-1431)cAc>cTc	p.H477L	ZNF264_ENST00000536056.1_Missense_Mutation_p.H477L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCAGCATCCACACTGGAGAG	0.542000													9	26					0	0	0.058154	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326922	89326922	+	RNA	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:89326922G>T	ENST00000483158.1	-	0	137																											GACAAAGACAGGGTGGCTGGA	0.488000													4	88					2.68362e-12	3.56373e-12	0.093190	1	0
FAM207A	85395	broad.mit.edu	37	21	46386972	46386972	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:46386972G>C	ENST00000291634.6	+	4	424	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.E111Q	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	126																	AAAACTGGCTGAGCAGAAGCA	0.637000													11	11					0	0	0.069234	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962022	73962022	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:73962022C>A	ENST00000373468.1	-	3	3021	c.2370G>T	c.(2368-2370)acG>acT	p.T790T	KIAA2022_ENST00000055682.5_Silent_p.T790T			Q5QGS0	K2022_HUMAN	KIAA2022	790					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						AAGAGCATGTCGTTGGTAGAA	0.403000													4	67					1.23904e-05	1.41034e-05	0.014758	1	0
MC5R	4161	broad.mit.edu	37	18	13825968	13825968	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:13825968C>A	ENST00000324750.3	+	1	426	c.204C>A	c.(202-204)caC>caA	p.H68Q		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	68					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AAAACCTGCACTCCCCCATGT	0.527000													11	51					2.27111e-07	2.74982e-07	0.093190	1	0
GALNT16	57452	broad.mit.edu	37	14	69808451	69808451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:69808451G>A	ENST00000337827.4	+	12	1568	c.1241G>A	c.(1240-1242)tGg>tAg	p.W414*	GALNT16_ENST00000553669.1_Nonsense_Mutation_p.W414*|GALNT16_ENST00000448469.3_Nonsense_Mutation_p.W414*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		TCCTTCCGCTGGTACCTGGAG	0.612000													8	12					0	0	0.047766	0	0
COL6A6	131873	broad.mit.edu	37	3	130282012	130282012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:130282012C>A	ENST00000358511.6	+	2	196	c.165C>A	c.(163-165)agC>agA	p.S55R	COL6A6_ENST00000453409.2_Missense_Mutation_p.S55R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	55	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGATCAGCAGTCTCCCCA	0.502000													22	118					7.45023e-12	9.73654e-12	0.055883	1	0
CDH18	1016	broad.mit.edu	37	5	19721468	19721468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:19721468C>A	ENST00000507958.1	-	7	1621	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	CDH18_ENST00000382275.1_Missense_Mutation_p.D211Y|CDH18_ENST00000502796.1_Missense_Mutation_p.D211Y|CDH18_ENST00000274170.4_Missense_Mutation_p.D211Y|CDH18_ENST00000506372.1_Missense_Mutation_p.D211Y|CDH18_ENST00000511273.1_Missense_Mutation_p.D211Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	211	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D211N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTTTAGGGTCGACGGAGAAG	0.448000													30	72					9.65021e-13	1.30967e-12	0.045705	1	0
MPPE1	65258	broad.mit.edu	37	18	11893517	11893517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:11893517C>T	ENST00000588072.1	-	4	1561	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	MPPE1_ENST00000317235.7_Missense_Mutation_p.V114I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V114I|MPPE1_ENST00000344987.7_Missense_Mutation_p.V114I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V114I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	114					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGGATGAAGACGACTTCCGGC	0.532000													8	45					0	0	0.047766	0	0
TBL1X	6907	broad.mit.edu	37	X	9660274	9660274	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:9660274G>T	ENST00000217964.7	+	9	1511	c.871G>T	c.(871-873)Gtc>Ttc	p.V291F	TBL1X_ENST00000536365.1_Missense_Mutation_p.V240F|TBL1X_ENST00000407597.2_Missense_Mutation_p.V291F|TBL1X_ENST00000380961.1_Missense_Mutation_p.V240F|TBL1X_ENST00000424279.1_Missense_Mutation_p.V240F	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	291					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TAACAAAGACGTCACCTCACT	0.557000													13	51					1.05317e-09	1.33402e-09	0.119110	1	0
C15orf59	388135	broad.mit.edu	37	15	74032449	74032449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:74032449G>A	ENST00000569673.1	-	3	1895	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.H231Y			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	231										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGGCTTGTGGGGGCCTGCA	0.652000													3	47					0	0	0.115264	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103573762	103573762	+	Splice_Site	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:103573762C>T	ENST00000380069.3	+	8	1659	c.1581_splice	c.e8-1	p.P528_splice		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	528										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGTCCCCAGCCGCTCTTCAGG	0.632000													21	24					0	0	0.083992	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038776	122038776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:122038776G>A	ENST00000263707.5	-	2	231	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	45	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TTGCAGGGGTGGCAGGCGGGC	0.617000													40	134					0	0	0.098360	0	0
PLS3	5358	broad.mit.edu	37	X	114869295	114869295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:114869295G>A	ENST00000420625.2	+	7	819	c.685G>A	c.(685-687)Gga>Aga	p.G229R	PLS3_ENST00000289290.3_Missense_Mutation_p.G184R|PLS3_ENST00000355899.3_Missense_Mutation_p.G229R|PLS3_ENST00000539310.1_Missense_Mutation_p.G184R|PLS3_ENST00000537301.1_Missense_Mutation_p.G207R	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	229	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGTTTTGGGACTGCTTTG	0.438000													11	112					0	0	0.069234	0	0
AGAP6	414189	broad.mit.edu	37	10	51748544	51748544	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:51748544G>T	ENST00000374056.4	+	1	467	c.69G>T	c.(67-69)tcG>tcT	p.S23S	AGAP6_ENST00000412531.3_Silent_p.S23S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCAGGGGTCGGTGTGTCCCT	0.607000													30	38					2.08457e-15	3.02875e-15	0.045705	1	0
PCDH10	57575	broad.mit.edu	37	4	134072460	134072460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:134072460G>A	ENST00000264360.4	+	1	1991	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	389	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGACTCAGAGGAGAATGGGCA	0.597000													15	111					0	0	0.132662	0	0
KIF6	221458	broad.mit.edu	37	6	39507934	39507934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:39507934C>T	ENST00000287152.7	-	13	1584	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.G497D|KIF6_ENST00000373215.3_Missense_Mutation_p.G497D|KIF6_ENST00000373213.4_Missense_Mutation_p.G336D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	497					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.G497D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTATCCATGCCAGCCAAGTG	0.468000													4	197					0	0	0.009096	0	0
SYT10	341359	broad.mit.edu	37	12	33532866	33532866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:33532866G>T	ENST00000228567.3	-	6	1697	c.1401C>A	c.(1399-1401)tgC>tgA	p.C467*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.C286*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	467	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCCTGTTCTGCACACTCCTA	0.453000													21	98					1.96292e-10	2.51213e-10	0.055883	1	0
USP38	84640	broad.mit.edu	37	4	144135671	144135671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:144135671C>T	ENST00000307017.4	+	9	3048	c.2542C>T	c.(2542-2544)Cac>Tac	p.H848Y	USP38_ENST00000510377.1_Missense_Mutation_p.H848Y	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	848					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGTTGTGGTTCACTCTGGTAT	0.413000													7	38					0	0	0.029380	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708895	176708895	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:176708895T>C	ENST00000367662.3	+	13	5096	c.3932T>C	c.(3931-3933)cTt>cCt	p.L1311P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1311					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCACTCTCTTGGTGAGTCT	0.478000													4	37					0	0	0.009096	0	0
TRBV27	28560	broad.mit.edu	37	7	142423476	142423476	+	RNA	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:142423476G>A	ENST00000506718.1	+	0	484				TRBV27_ENST00000390399.3_RNA																							CTTGTTCTCAGAATATGAACC	0.478000													14	45					0	0	0.119110	0	0
WNT8B	7479	broad.mit.edu	37	10	102239717	102239717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:102239717G>C	ENST00000343737.5	+	3	317	c.189G>C	c.(187-189)tgG>tgC	p.W63C		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGGACCGCTGGAACTGCCCTG	0.557000													16	29					0	0	0.132662	0	0
LOC101927016	101927016	broad.mit.edu	37	13	64321279	64321279	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:64321279G>T	ENST00000453638.2	+	1	346	c.346G>T	c.(346-348)Ggc>Tgc	p.G116C																	endometrium(2)|lung(1)|urinary_tract(1)	4						tggctaCTGTGGCTACCGGCC	0.483000													15	26					5.35267e-07	6.418e-07	0.043863	1	0
OR9G4	283189	broad.mit.edu	37	11	56510760	56510760	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:56510760G>A	ENST00000302957.3	-	1	527	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						GGAATGTATTGGCAGTATGGG	0.448000													27	66					0	0	0.099896	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027554	9027554	+	Silent	SNP	C	C	A	rs147085328	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:9027554C>A	ENST00000383836.3	-	22	3376	c.2949G>T	c.(2947-2949)acG>acT	p.T983T	SRGAP3_ENST00000360413.3_Silent_p.T959T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTGCTTGACCGTGTTCTGCC	0.647000			T	RAF1	pilocytic astrocytoma								15	46					1.52009e-12	2.05171e-12	0.132662	1	0
RIT2	6014	broad.mit.edu	37	18	40323626	40323626	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:40323626G>T	ENST00000326695.5	-	5	657	c.486C>A	c.(484-486)acC>acA	p.T162T	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	162					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGCAGAGGTCTCAAAAA	0.378000													26	44					4.47668e-21	6.58178e-21	0.091800	1	0
CPNE2	221184	broad.mit.edu	37	16	57180102	57180102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:57180102G>A	ENST00000535318.2	+	16	1769	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	CPNE2_ENST00000290776.8_Missense_Mutation_p.V470M|CPNE2_ENST00000565874.1_Missense_Mutation_p.V470M|CPNE2_ENST00000537605.1_Missense_Mutation_p.V368M|CPNE2_ENST00000565951.1_3'UTR			Q96FN4	CPNE2_HUMAN	copine II	470	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCATCGTGGGCGTGGG	0.617000													4	7					0	0	0.009096	0	0
MTMR8	55613	broad.mit.edu	37	X	63490948	63490948	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:63490948C>A	ENST00000374852.3	-	13	1554	c.1487G>T	c.(1486-1488)tGg>tTg	p.W496L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	496	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CATCCCACACCAGAACCTCAA	0.433000													5	13					0.0215528	0.0221814	0.021553	1	0
MRGPRF	116535	broad.mit.edu	37	11	68777336	68777336	+	Missense_Mutation	SNP	C	C	T	rs143408398		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:68777336C>T	ENST00000309099.6	-	2	416	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	MRGPRF_ENST00000320913.6_Missense_Mutation_p.G12S|MRGPRF_ENST00000441623.1_Missense_Mutation_p.G12S	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	12						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCTGTTGCCGGGATGGGCC	0.672000													6	85					0	0	0.029380	0	0
DNM3	26052	broad.mit.edu	37	1	171956944	171956944	+	Splice_Site	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:171956944C>A	ENST00000358155.4	+	3	560	c.385_splice	c.e3+1	p.H128_splice	DNM3_ENST00000367731.1_Splice_Site_p.H128_splice|DNM3_ENST00000367733.2_Splice_Site_p.H128_splice|DNM3_ENST00000355305.5_Splice_Site_p.H128_splice|DNM3_ENST00000520906.1_Splice_Site_p.H128_splice	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	128					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTCCCCACACGGTAAGTAAA	0.348000													10	88					3.86212e-05	4.33611e-05	0.069234	1	0
PLSCR2	57047	broad.mit.edu	37	3	146173132	146173132	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:146173132G>T	ENST00000497985.1	-	6	873	c.434C>A	c.(433-435)tCt>tAt	p.S145Y	PLSCR2_ENST00000336685.2_Missense_Mutation_p.S72Y	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	72					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAAAGGTCTAGACCGCCCACA	0.413000													16	103					2.62699e-14	3.70781e-14	0.132662	1	0
CLCN5	1184	broad.mit.edu	37	X	49853388	49853388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:49853388G>A	ENST00000376088.3	+	12	2232	c.1591G>A	c.(1591-1593)Gtt>Att	p.V531I	CLCN5_ENST00000376091.3_Missense_Mutation_p.V531I|CLCN5_ENST00000376108.3_Missense_Mutation_p.V461I|CLCN5_ENST00000307367.2_Missense_Mutation_p.V461I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	461					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAGCATGGCTGTTGGTGCTAT	0.483000													39	121					0	0	0.092188	0	0
DNAH11	8701	broad.mit.edu	37	7	21678667	21678667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:21678667G>A	ENST00000328843.6	+	28	4974	c.4943G>A	c.(4942-4944)gGa>gAa	p.G1648E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1643E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTCAAAAGGAGCTCAGCCT	0.403000									Kartagener syndrome				22	17					0	0	0.062417	0	0
DNAH5	1767	broad.mit.edu	37	5	13864670	13864670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13864670C>T	ENST00000265104.4	-	28	4536	c.4432G>A	c.(4432-4434)Gag>Aag	p.E1478K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1478	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)					GGGCAACACTCGCTGAAATCA	0.527000									Kartagener syndrome				9	45					0	0	0.047766	0	0
TKTL2	84076	broad.mit.edu	37	4	164394370	164394370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:164394370G>C	ENST00000280605.3	-	1	677	c.517C>G	c.(517-519)Cac>Gac	p.H173D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	173						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGTTGTAGTGGGAGGCAAAA	0.552000													9	52					0	0	0.047766	0	0
NRK	203447	broad.mit.edu	37	X	105153085	105153085	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:105153085G>T	ENST00000428173.2	+	13	1758	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	NRK_ENST00000243300.9_Missense_Mutation_p.Q484H			Q7Z2Y5	NRK_HUMAN	Nik related kinase	484	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TACAGGCACAGGTTAGGGCAC	0.542000										HNSCC(51;0.14)			5	39					1.024e-07	1.25212e-07	0.014758	1	0
CDH6	1004	broad.mit.edu	37	5	31318062	31318062	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:31318062C>A	ENST00000514738.1	+	11	2178	c.1748C>A	c.(1747-1749)cCc>cAc	p.P583H	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCTATCTCCCCATGGTGAGG	0.532000													8	76					3.09899e-07	3.7339e-07	0.047766	1	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													11	5					0	0	0.093190	0	0
ATG2B	55102	broad.mit.edu	37	14	96797952	96797952	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:96797952T>C	ENST00000359933.4	-	11	2384	c.1491A>G	c.(1489-1491)tcA>tcG	p.S497S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	497										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATCCACTGAAACAGATC	0.308000													11	50					0	0	0.093190	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249348	123249348	+	Silent	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:123249348G>C	ENST00000264501.4	+	66	11458	c.11085G>C	c.(11083-11085)gtG>gtC	p.V3695V	KIAA1109_ENST00000388738.3_Silent_p.V3695V			Q2LD37	K1109_HUMAN	KIAA1109	3695					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGTTCTGTGTTCAGTTCTC	0.438000													8	65					0	0	0.047766	0	0
LRRK2	120892	broad.mit.edu	37	12	40734242	40734242	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:40734242C>G	ENST00000298910.7	+	41	6153	c.6095C>G	c.(6094-6096)tCa>tGa	p.S2032*		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2032	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAAAAACATCAGAGGGCACA	0.443000													17	72					0	0	0.033300	0	0
NTRK3	4916	broad.mit.edu	37	15	88472648	88472648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:88472648G>A	ENST00000394480.1	-	17	2228	c.1907C>T	c.(1906-1908)gCa>gTa	p.A636V	NTRK3_ENST00000357724.2_Missense_Mutation_p.A628V|NTRK3_ENST00000355254.2_Missense_Mutation_p.A636V|NTRK3_ENST00000360948.2_Missense_Mutation_p.A636V|NTRK3_ENST00000557856.1_Missense_Mutation_p.A628V|NTRK3_ENST00000542733.2_Missense_Mutation_p.A538V|NTRK3_ENST00000558676.1_Missense_Mutation_p.A628V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	636	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATCATTGCATCTGGCCC	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	29					0	0	0.029380	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139313	90139313	+	RNA	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:90139313G>A	ENST00000492446.1	+	0	111																											AGATGACCCAGTCTCCATCCT	0.448000													45	81					0	0	0.139131	0	0
TACR1	6869	broad.mit.edu	37	2	75425690	75425690	+	Missense_Mutation	SNP	G	G	A	rs138993766		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:75425690G>A	ENST00000305249.4	-	1	1136	c.371C>T	c.(370-372)aCg>aTg	p.T124M	TACR1_ENST00000409848.3_Missense_Mutation_p.T124M	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	124					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGCCACAGCCGTCATGGAGTA	0.512000													9	51					0	0	0.058154	0	0
DNAH5	1767	broad.mit.edu	37	5	13885171	13885171	+	Silent	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13885171A>C	ENST00000265104.4	-	19	3014	c.2910T>G	c.(2908-2910)ctT>ctG	p.L970L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	970	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)					TAACTTTCAGAAGAGCATCCA	0.418000									Kartagener syndrome				21	83					0	0	0.076483	0	0
RIMS1	22999	broad.mit.edu	37	6	72892001	72892001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:72892001G>C	ENST00000264839.7	+	6	827	c.827G>C	c.(826-828)gGg>gCg	p.G276A	RIMS1_ENST00000491071.2_Missense_Mutation_p.G276A|RIMS1_ENST00000520567.1_Missense_Mutation_p.G276A|RIMS1_ENST00000521978.1_Missense_Mutation_p.G276A|RIMS1_ENST00000517960.1_Missense_Mutation_p.G276A|RIMS1_ENST00000522291.1_Missense_Mutation_p.G276A|RIMS1_ENST00000518273.1_Missense_Mutation_p.G276A|RIMS1_ENST00000348717.5_Missense_Mutation_p.G276A			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	276					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGACCCCAGGGCTTTCCGAG	0.488000													17	38					0	0	0.043863	0	0
BCOR	54880	broad.mit.edu	37	X	39933796	39933796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39933796G>T	ENST00000342274.4	-	4	1165	c.803C>A	c.(802-804)tCg>tAg	p.S268*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.S268*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.S268*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.S268*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	268					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGAAGGTGTCGAGAGCCTCAT	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	16					0.000602214	0.00064955	0.014758	1	0
ODF1	4956	broad.mit.edu	37	8	103564144	103564144	+	Silent	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:103564144C>G	ENST00000285402.3	+	1	345	c.189C>G	c.(187-189)cgC>cgG	p.R63R		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	63	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCGATCACGCTCTTGCGGCC	0.493000													42	110					0	0	0.104719	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633619	70633619	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:70633619G>T	ENST00000381269.2	-	2	2274	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	SLC8A3_ENST00000356921.2_Silent_p.P507P|SLC8A3_ENST00000357887.3_Silent_p.P507P|SLC8A3_ENST00000528359.1_Silent_p.P507P|SLC8A3_ENST00000534137.1_Silent_p.P507P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	507					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCCGAGGCAAGGGAAGACTGT	0.498000													29	34					4.87955e-14	6.84801e-14	0.108266	1	0
TMEM225	338661	broad.mit.edu	37	11	123753941	123753941	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:123753941T>C	ENST00000375026.2	-	4	798	c.582A>G	c.(580-582)ccA>ccG	p.P194P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	194						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CAGTGCATTCTGGTAATGAAA	0.428000													23	73					0	0	0.076483	0	0
TEX15	56154	broad.mit.edu	37	8	30705035	30705035	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:30705035T>C	ENST00000256246.2	-	1	1573	c.1499A>G	c.(1498-1500)tAt>tGt	p.Y500C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	500										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTCTCCATATATGTTCTC	0.308000													18	88					0	0	0.043863	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787534	109787534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:109787534C>A	ENST00000230122.3	-	7	1781	c.1614G>T	c.(1612-1614)caG>caT	p.Q538H		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGGCTGTAGCTGAAGAATAT	0.453000													25	52					3.1745e-13	4.35611e-13	0.134883	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531608	84531608	+	RNA	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:84531608T>C	ENST00000527857.1	+	0	1630					NR_026851.1																						TCCTCCATGTTTGTATTCTTC	0.473000													12	41					0	0	0.093190	0	0
GPR101	83550	broad.mit.edu	37	X	136112567	136112567	+	Missense_Mutation	SNP	C	C	T	rs143030995	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:136112567C>T	ENST00000298110.1	-	1	1266	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	423						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V423M(2)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCCACCCACACGGCCAGGACT	0.517000													8	57					0	0	0.038147	0	0
FAM47A	158724	broad.mit.edu	37	X	34150048	34150048	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:34150048C>A	ENST00000346193.3	-	1	399	c.348G>T	c.(346-348)gcG>gcT	p.A116A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	116										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCTACGAACGCCTTCCGTG	0.552000													16	74					4.14922e-12	5.45137e-12	0.146539	1	0
CLDN16	10686	broad.mit.edu	37	3	190126229	190126229	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:190126229T>A	ENST00000264734.2	+	4	967	c.719T>A	c.(718-720)aTg>aAg	p.M240K	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	240					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGGCTCGGAATGGCTGGGTCT	0.388000													6	240					0	0	0.029380	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198783	170198783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:170198783G>A	ENST00000231706.4	-	7	1603	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	430						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGTTGGTATCGAAGGAGCAAG	0.512000													8	82					0	0	0.038147	0	0
IWS1	55677	broad.mit.edu	37	2	128262822	128262822	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:128262822A>G	ENST00000295321.4	-	3	916	c.657T>C	c.(655-657)ccT>ccC	p.P219P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.P226P|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	219	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGACCTGAGGTTTAGGAA	0.512000													32	195					0	0	0.045705	0	0
C9orf43	257169	broad.mit.edu	37	9	116185750	116185750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:116185750G>T	ENST00000288462.4	+	7	1074	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	C9orf43_ENST00000374165.1_Nonsense_Mutation_p.E210*	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	210								p.E210K(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GGCTCAATCCGAAGCGTTACC	0.498000													4	35					0.00909568	0.00947946	0.009096	1	0
PDC	5132	broad.mit.edu	37	1	186413572	186413572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:186413572G>A	ENST00000391997.2	-	4	367	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PDC_ENST00000497198.1_Missense_Mutation_p.R42C|PDC_ENST00000456239.2_Missense_Mutation_p.R42C|PDC_ENST00000340129.5_Missense_Mutation_p.R94C	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	94					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACTGTCTACGGTATTTACGA	0.368000													4	110					0	0	0.009096	0	0
CTNND2	1501	broad.mit.edu	37	5	10992697	10992697	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:10992697G>C	ENST00000304623.8	-	19	3366	c.3177C>G	c.(3175-3177)atC>atG	p.I1059M	CTNND2_ENST00000458100.2_Missense_Mutation_p.I626M|CTNND2_ENST00000503622.1_Missense_Mutation_p.I722M|CTNND2_ENST00000511377.1_Missense_Mutation_p.I968M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.I1001M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1059					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCACAGGGGAGATGGAGGGCG	0.577000													31	59					0	0	0.050027	0	0
MALAT1	378938	broad.mit.edu	37	11	65273602	65273602	+	RNA	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:65273602G>A	ENST00000534336.1	+	0	8370					NR_002819.2																						CTGGTGGTTGGCACTCCTGGT	0.408000													19	38					0	0	0.038395	0	0
NLRP6	171389	broad.mit.edu	37	11	284380	284380	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:284380G>C	ENST00000534750.1	+	6	2554	c.2349G>C	c.(2347-2349)caG>caC	p.Q783H	NLRP6_ENST00000312165.5_Missense_Mutation_p.Q784H	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	784						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCGCAGTGCAGGGTGC	0.701000													11	17					0	0	0.093190	0	0
BRINP3	339479	broad.mit.edu	37	1	190067913	190067913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:190067913delG	ENST00000367462.3	-	8	1767	c.1536delC	c.(1534-1536)gcfs	p.A512fs	FAM5C_ENST00000534846.1_Frame_Shift_Del_p.A410fs|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		512						extracellular region		p.A512A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGATAAAAATGGCATGGACTT	0.463													18	100	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48725981	48725982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:48725981_48725982insA	ENST00000328631.5	-	6	1228_1229	c.1005_1006insT	c.(1003-1008)taatggfs	p.*W335fs		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	335					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCTTGCCATCATAAATGACCA	0.554													30	49	---	---	---	---					
CUX1	1523	broad.mit.edu	37	7	101747722	101747723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:101747722_101747723insT	ENST00000360264.3	+	6	566_567	c.546_547insT	c.(544-549)gattgcfs	p.C183fs	CUX1_ENST00000556210.1_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000547394.2_Frame_Shift_Ins_p.C167fs|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000437600.4_Frame_Shift_Ins_p.C183fs|CUX1_ENST00000292535.7_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000292538.4_Frame_Shift_Ins_p.C183fs|CUX1_ENST00000425244.2_Frame_Shift_Ins_p.C137fs|CUX1_ENST00000393824.3_Frame_Shift_Ins_p.C146fs|CUX1_ENST00000560541.1_3'UTR	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	172					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TACAGAATGACTTTGCAGAAAA	0.421													22	131	---	---	---	---					
KIF27	55582	broad.mit.edu	37	9	86506407	86506407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:86506407delT	ENST00000297814.2	-	6	1755	c.1612delA	c.(1612-1614)tafs	p.I539fs	KIF27_ENST00000413982.1_Frame_Shift_Del_p.I539fs|KIF27_ENST00000334204.2_Frame_Shift_Del_p.I539fs	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	539					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTCTATTATTTTTTCATTC	0.303													7	30	---	---	---	---					
KLHL25	64410	broad.mit.edu	37	15	86311590	86311605	+	Frame_Shift_Del	DEL	GTACCGCCAAGGCTGG	GTACCGCCAAGGCTGG	-	rs8041288	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:86311590_86311605delGTACCGCCAAGGCTGG	ENST00000337975.5	-	2	1711_1726	c.1437_1452delCCAGCCTTGGCGGTAC	c.(1435-1452)ccfs	p.PQPWRY479fs	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Frame_Shift_Del_p.PQPWRY479fs	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	479						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CAGCGGCTGTGTACCGCCAAGGCTGGGGGCACTCGG	0.597													12	99	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													5	6	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780391	39780392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:39780391_39780392insC	ENST00000311208.8	-	1	437_438	c.370_371insG	c.(370-372)cccfs	p.P124fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	124	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGCCCCGGGGCCTGCCTCTGG	0.639													17	182	---	---	---	---					
CLDND2	125875	broad.mit.edu	37	19	51871727	51871729	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:51871727_51871729delTTG	ENST00000291715.1	-	1	528_530	c.103_105delCAA	c.(103-105)del	p.Q35del	CLDND2_ENST00000601435.1_In_Frame_Del_p.Q35del	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGGCCCTCTTGTTGGCGGGTC	0.640													23	66	---	---	---	---					
