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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EXOC8	149371	broad.mit.edu	37	1	231471379	231471380	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:231471379_231471380GG>TT	uc001huq.3	-	0	2199_2200	c.2112_2113CC>AA	c.(2110-2115)ctccaa>ctAAaa	p.Q705K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	705					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCAGATCTTGGAGTTGCTTGG	0.411000														232			7		0	0	6.4e-05	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632106	205632106	+	Silent	SNP	C	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:205632106C>G	uc001hda.1	-	2	1152	c.813G>C	c.(811-813)ctG>ctC	p.L271L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Silent_p.L105L|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	271					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGCCGGCGCAGGGTGCGGG	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									39			22		0	0	3.10358e-05	0	0
CHD8	57680	broad.mit.edu	37	14	21861979	21861979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr14:21861979C>T	uc001war.2	-	30	6040	c.5975G>A	c.(5974-5976)cGc>cAc	p.R1992H	CHD8_uc001was.2_Missense_Mutation_p.R1713H|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1992					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGAGGCAGTGCGTGAGGTATA	0.557000														13			5		0	0	3.59834e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870456	88870457	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:88870456_88870457GG>TT	uc002stc.4	-	13	3222_3223	c.2920_2921CC>AA	c.(2920-2922)cca>AAa	p.P974K		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	974	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AGCTGGCATTGGGGTCAGAACC	0.470000														746			10		0	0	6.4e-05	0	0
NBPF7	343505	broad.mit.edu	37	1	120382882	120382883	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:120382882_120382883GG>TT	uc010oxk.2	-	3	1244_1245	c.623_624CC>AA	c.(622-624)ccc>cAA	p.P208Q		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	208	NBPF 1.					cytoplasm		p.P208P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGTCTTACCTGGGAGCAGGTGA	0.401000														601			15		0	0	6.4e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115258748	115258748	+	Missense_Mutation	SNP	C	G	G	rs121913250		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:115258748C>G	uc009wgu.3	-	1	288	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	12			G -> C (in leukemia).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(379)|p.G12S(268)|p.G12C(165)|p.G12V(60)|p.G12A(42)|p.G12R(36)|p.G12G(4)|p.G12N(4)|p.A11T(3)|p.G12P(2)|p.G12Y(2)|p.G12E(1)|p.G12T(1)|p.G12?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCACCTGCTCCAACC	0.493000	G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				32			98		0	0	0.000147903	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629080	20629080	+	Silent	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr11:20629080G>T	uc001mqd.3	+	4	1140	c.867G>T	c.(865-867)gtG>gtT	p.V289V	SLC6A5_uc009yic.3_Silent_p.V54V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	289					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACTACAATGTGATTATTTGCT	0.438000														63			55		3.36121e-32	1.86259e-30	0.000147903	1	0
TECTA	7007	broad.mit.edu	37	11	121031078	121031078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr11:121031078G>A	uc010rzo.2	+	13	4924	c.4924G>A	c.(4924-4926)Gta>Ata	p.V1642I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1642	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAGCCGGTGGTAAGCAGCGT	0.552000														72			45		0	0	0.000147903	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707138	109707139	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:109707138_109707139GG>TT	uc021orb.1	+	2	513_514	c.292_293GG>TT	c.(292-294)ggg>TTg	p.G98L	KIAA1324_uc009wex.2_Missense_Mutation_p.G98L|KIAA1324_uc010ovg.2_5'UTR|KIAA1324_uc009wey.3_Missense_Mutation_p.G98L	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	98					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGCAACGCCGGGGAGTTTCTG	0.594000														311			7		0	0	6.4e-05	0	0
KCNS2	3788	broad.mit.edu	37	8	99441459	99441459	+	Missense_Mutation	SNP	C	T	T	rs149723156		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:99441459C>T	uc003yin.3	+	1	1602	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	KCNS2_uc022azb.1_Missense_Mutation_p.R418W	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	418						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCACTTTTACCGGCGCCAAAA	0.517000														214			28		0	0	0.000147802	0	0
MEI1	150365	broad.mit.edu	37	22	42172254	42172254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr22:42172254G>A	uc003baz.1	+	20	2718	c.2693G>A	c.(2692-2694)gGg>gAg	p.G898E	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G284E|MEI1_uc003bbc.1_Missense_Mutation_p.G266E|MEI1_uc010gym.1_Missense_Mutation_p.G266E|MEI1_uc003bbd.1_Missense_Mutation_p.G141E|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	898							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGGAGCATGGGGCATCCCCA	0.567000														47			16		0	0	5.01169e-05	0	0
FKBPL	63943	broad.mit.edu	37	6	32097480	32097481	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:32097480_32097481CC>AA	uc003nzr.3	-	1	347_348	c.77_78GG>TT	c.(76-78)cgg>cTT	p.R26L	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R26L	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	26					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CAAGGTTCTCCCGAAGGTTCTT	0.515000														790			16		0	0	6.4e-05	0	0
ST18	9705	broad.mit.edu	37	8	53077718	53077718	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:53077718G>T	uc003xqz.2	-	6	1428	c.1272C>A	c.(1270-1272)aaC>aaA	p.N424K	ST18_uc011ldq.1_Missense_Mutation_p.N71K|ST18_uc011ldr.1_Missense_Mutation_p.N389K|ST18_uc011lds.1_Missense_Mutation_p.N329K|ST18_uc003xra.2_Missense_Mutation_p.N424K|ST18_uc003xrb.2_Missense_Mutation_p.N424K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCGGTTGCTGTTCACATGAC	0.403000														427			60		2.67592e-24	1.46961e-22	0.000147903	1	0
HIGD1C	613227	broad.mit.edu	37	12	51347824	51347824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:51347824C>T	uc010smw.2	+	0	43	c.43C>T	c.(43-45)Caa>Taa	p.Q15*		NM_001109619	NP_001103089	A8MV81	HIG1C_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 1C (HIGD1C), mRNA.	15	HIG1.					integral to membrane				lung(1)	1						GGATGAAGGCCAATTATCCCG	0.378000														205			54		0	0	0.000147903	0	0
TAF1A	9015	broad.mit.edu	37	1	222742993	222742994	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:222742993_222742994CC>AA	uc009xdz.2	-	6	961_962	c.752_753GG>TT	c.(751-753)ggg>gTT	p.G251V	TAF1A_uc001hni.2_Missense_Mutation_p.G137V|TAF1A_uc001hnj.3_Missense_Mutation_p.G251V|TAF1A_uc010pur.2_Missense_Mutation_p.G251V	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	251					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.G251E(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CATCTCGATCCCCATAGAATTC	0.332000														618			11		0	0	6.4e-05	0	0
WFDC8	90199	broad.mit.edu	37	20	44184401	44184401	+	Silent	SNP	G	A	A	rs150100809	byFrequency	TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:44184401G>A	uc002xow.3	-	3	463	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_uc002xox.3_Silent_p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	128	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468000														100			27		0	0	3.70037e-05	0	0
LYG2	254773	broad.mit.edu	37	2	99861803	99861803	+	Silent	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:99861803G>T	uc002szw.1	-	3	416	c.303C>A	c.(301-303)atC>atA	p.I101I	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.I101I|LYG2_uc002szx.1_Silent_p.I101I	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	101					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCCTGGAGATGATGGCTGCGA	0.498000														66			15		6.31663e-08	3.29268e-06	2.31682e-05	1	0
MITD1	129531	broad.mit.edu	37	2	99785865	99785865	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:99785865A>T	uc002szs.1	-	6	771	c.723T>A	c.(721-723)ttT>ttA	p.F241L	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	241					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						GCTTCTTATGAAAAATGTCTA	0.274000														45			11		0	0	6.40141e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885548	88885549	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:88885548_88885549CC>AA	uc002stc.4	-	8	1762_1763	c.1460_1461GG>TT	c.(1459-1461)agg>aTT	p.R487I		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	487					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTTCCTCTCCCTCTTGTAGTA	0.337000														687			14		0	0	6.4e-05	0	0
WDR47	22911	broad.mit.edu	37	1	109538320	109538321	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:109538320_109538321GG>TT	uc001dwl.3	-	7	1972_1973	c.1596_1597CC>AA	c.(1594-1599)ccccaa>ccAAaa	p.Q533K	WDR47_uc001dwi.3_Missense_Mutation_p.Q526K|WDR47_uc001dwj.3_Missense_Mutation_p.Q525K|WDR47_uc001dwk.2_Missense_Mutation_p.Q497K|WDR47_uc010ovf.2_Missense_Mutation_p.Q452K	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAGTCTTGGGGTGGTGTAG	0.416000														599			14		0	0	6.4e-05	0	0
ASH1L	55870	broad.mit.edu	37	1	155311806	155311807	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:155311806_155311807CG>AT	uc009wqq.3	-	24	8875_8876	c.8395_8396CG>AT	c.(8395-8397)cgg>ATg	p.R2799M	ASH1L_uc001fkt.3_Missense_Mutation_p.R2794M	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2799					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATAGCGGTTCCGGTGGATCTTG	0.470000														217			6		0	0	6.4e-05	0	0
ANLN	54443	broad.mit.edu	37	7	36438873	36438874	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:36438873_36438874CC>AA	uc003tff.3	+	2	562_563	c.358_359CC>AA	c.(358-360)ccg>AAg	p.P120K	ANLN_uc011kaz.2_Intron|ANLN_uc003tfg.3_Missense_Mutation_p.P120K|ANLN_uc010kxe.3_Missense_Mutation_p.P120K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	120	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGTTGCTGTCCCGGCATCACTG	0.505000														45			6		0	0	6.4e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12318207	12318208	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:12318207_12318208CC>AA	uc001rah.4	-	7	1709_1710	c.1567_1568GG>TT	c.(1567-1569)ggg>TTg	p.G523L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G523L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	523	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TACTCGTCTCCCAGTGCCATCA	0.386000														712			14		0	0	6.4e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														62			9		0	0	1.12685e-05	0	0
NEB	4703	broad.mit.edu	37	2	152382515	152382516	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:152382515_152382516CG>AT	uc021vrb.1	-	120	17043_17044	c.17014_17015CG>AT	c.(17014-17016)cgg>ATg	p.R5672M	NEB_uc002txr.3_Missense_Mutation_p.R2138M|NEB_uc002txu.3_Missense_Mutation_p.R7373M|NEB_uc021vrc.1_Missense_Mutation_p.R7373M|NEB_uc010fnx.3_Missense_Mutation_p.R5660M|NEB_uc021vrd.1_Missense_Mutation_p.R5672M|NEB_uc002txt.4_Missense_Mutation_p.R177M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5672					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R5672R(2)|p.R5672Q(2)|p.R5672L(2)|p.R7373L(1)|p.R7373R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACAGTGTCCCGGGTCTCTGGT	0.490000														300			10		0	0	6.4e-05	0	0
SULF2	55959	broad.mit.edu	37	20	46318883	46318883	+	Missense_Mutation	SNP	C	T	T	rs142401598		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:46318883C>T	uc002xto.3	-	4	1054	c.724G>A	c.(724-726)Gca>Aca	p.A242T	SULF2_uc002xtr.3_Missense_Mutation_p.A242T|SULF2_uc002xtq.3_Missense_Mutation_p.A242T|SULF2_uc010ghv.1_Missense_Mutation_p.A242T	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	242					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.N241K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGCTGAGATGCGTTTGGGAAG	0.572000														56			10		0	0	2.17888e-05	0	0
TTN	7273	broad.mit.edu	37	2	179480121	179480121	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:179480121C>G	uc021vsy.1	-	207	41072	c.40847G>C	c.(40846-40848)gGt>gCt	p.G13616A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7311A|TTN_uc021vta.1_Missense_Mutation_p.G7244A|TTN_uc021vtb.1_Missense_Mutation_p.G7119A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14543	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I13615V(1)		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)			GATGCGTGAACCACCATCATT	0.413000														113			118		0	0	0.000147903	0	0
GDF3	9573	broad.mit.edu	37	12	7848184	7848184	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:7848184C>T	uc001qte.3	-	0	177	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	47					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGATATAAGGCACAGGTTGGA	0.507000														64			15		0	0	2.31682e-05	0	0
NOX5	79400	broad.mit.edu	37	15	69325408	69325408	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr15:69325408G>A	uc002ars.2	+	4	687	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A170T|NOX5_uc002arp.2_Missense_Mutation_p.A198T|NOX5_uc010bid.2_Missense_Mutation_p.A181T|NOX5_uc010bie.2_Missense_Mutation_p.A16T|NOX5_uc002arr.2_Missense_Mutation_p.A188T|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	216					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAcggcccccgccccccgccc	0.721000														9			23		0	0	0.000227799	0	0
NME8	51314	broad.mit.edu	37	7	37924779	37924779	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:37924779A>G	uc003tfn.3	+	13	1544	c.1172A>G	c.(1171-1173)gAc>gGc	p.D391G		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	391	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTATTGAGAGACAATGGCTTG	0.378000														35			8		0	0	2.17888e-05	0	0
SMC1A	8243	broad.mit.edu	37	X	53438820	53438820	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chrX:53438820G>C	uc004dsg.3	-	6	1214	c.1145C>G	c.(1144-1146)gCc>gGc	p.A382G	SMC1A_uc011moe.2_Missense_Mutation_p.A360G|SMC1A_uc011mof.2_Missense_Mutation_p.A148G	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	382					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCTCTTGCTGGCTTCTTCTTT	0.527000														3			15		0	0	0.000219431	0	0
LOC728819	728819	broad.mit.edu	37	2	43903111	43903112	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:43903111_43903112CC>AA	uc010fav.1	-	0	350_351	c.350_351GG>TT	c.(349-351)tgg>tTT	p.W117F	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTGTACCCACCTGTCATT	0.406000														808			13		0	0	6.4e-05	0	0
UBE2M	9040	broad.mit.edu	37	19	59067503	59067503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr19:59067503G>A	uc002qtl.4	-	5	1100	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	169					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TAGCCACCCCGCATGGAGCGC	0.642000														49			13		0	0	2.31682e-05	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647023	31647024	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31647023_31647024CC>AA	uc003nvu.2	-	1	143_144	c.143_144GG>TT	c.(142-144)tgg>tTT	p.W48F	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	48						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GAGGGGGTTCCCAATTGACAGG	0.540000														497			10		0	0	6.4e-05	0	0
COPA	1314	broad.mit.edu	37	1	160281719	160281719	+	Silent	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:160281719G>T	uc001fvv.4	-	10	1409	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	COPA_uc009wti.3_Silent_p.R339R|COPA_uc009wtj.1_Silent_p.R285R	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	339					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTAAGAATCGGTCCTTGACA	0.488000														65			5		8.12818e-05	0.00420138	8.12818e-05	1	0
ITPR3	3710	broad.mit.edu	37	6	33639958	33639958	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:33639958G>T	uc021ywr.1	+	21	3105	c.2881G>T	c.(2881-2883)Gac>Tac	p.D961Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	961					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGAGAATGAGGACATTGTGGT	0.592000														91			17		5.26018e-13	2.83819e-11	0.000229342	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														42			4		0	0	1.23904e-05	0	0
TRIM9	114088	broad.mit.edu	37	14	51446212	51446212	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr14:51446212T>C	uc001wyx.4	-	8	2728	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	TRIM9_uc001wyy.2_Missense_Mutation_p.R736G	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	655	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGTTTTTTCTATTTAAGTCG	0.448000														107			42		0	0	0.000147903	0	0
MT2A	4502	broad.mit.edu	37	16	56643177	56643177	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr16:56643177T>C	uc002ejh.3	+	2	187	c.97T>C	c.(97-99)Tgc>Cgc	p.C33R	MT1A_uc002eji.3_Intron	NM_005953	NP_005944	P02795	MT2_HUMAN	Homo sapiens metallothionein 2A (MT2A), mRNA.	33	Alpha.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						GCCCCCAGGCTGCTGCTCCTG	0.602000														34			10		0	0	3.86212e-05	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564441	140564441	+	Silent	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr5:140564441G>A	uc003liv.3	+	0	3462	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAAGCCGATTATCCCCA	0.458000														47			17		0	0	5.01169e-05	0	0
FAM208B	54906	broad.mit.edu	37	10	5788339	5788339	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr10:5788339C>T	uc001iij.3	+	14	3580	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	985																	ATGGGCCTGGCAGTCAGCCAG	0.468000														34			27		0	0	0.000147802	0	0
LRP6	4040	broad.mit.edu	37	12	12279720	12279721	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:12279720_12279721CC>AA	uc001rah.4	-	19	4358_4359	c.4216_4217GG>TT	c.(4216-4218)ggg>TTg	p.G1406L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1361L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1406					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CATAGTTTCCCCATCTCCCTTC	0.441000														869			17		0	0	6.4e-05	0	0
TTPAL	79183	broad.mit.edu	37	20	43115234	43115234	+	Splice_Site	SNP	A	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:43115234A>G	uc002xmc.1	+	5	764	c.640_splice	c.e5-2	p.D214_splice	TTPAL_uc002xmd.1_Splice_Site_p.D214_splice|TTPAL_uc010ggr.1_Splice_Site_p.D27_splice	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	214	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTTCCCACACAGGATGGTTTC	0.423000														49			25		0	0	0.000147802	0	0
MSH5	4439	broad.mit.edu	37	6	31726897	31726898	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31726897_31726898CC>AA	uc003nwu.2	+	15	1478_1479	c.1350_1351CC>AA	c.(1348-1353)ccccgc>ccAAgc	p.R451S	MSH5_uc003nwx.2_Missense_Mutation_p.R468S|MSH5_uc003nwv.2_Missense_Mutation_p.R451S|MSH5_uc003nww.2_Missense_Mutation_p.R451S|MSH5_uc011dof.1_Missense_Mutation_p.R150S|MSH5_uc003nwy.1_Missense_Mutation_p.R125S|SAPCD1_uc003nwz.4_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	451					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TTTCTATTCCCCGCCTGCCTTC	0.500000								Direct reversal of damage;Mismatch excision repair (MMR)						652			13		0	0	6.4e-05	0	0
TRIM28	10155	broad.mit.edu	37	19	59060419	59060419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr19:59060419C>T	uc002qtg.1	+	11	1763	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	TRIM28_uc010eut.1_Missense_Mutation_p.R410C|TRIM28_uc002qth.1_Missense_Mutation_p.R107C	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	492	HP1 box.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	p.R492L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGCCTTGAACGCCTGGACCT	0.582000														26			21		0	0	3.10358e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438670	120438671	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:120438670_120438671CC>AA	uc001eij.3	-	0	477_478	c.289_290GG>TT	c.(289-291)ggg>TTg	p.G97L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	97					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGCAGTTCCCCATGTTCTGTG	0.490000														839			14		0	0	6.4e-05	0	0
RIMS2	9699	broad.mit.edu	37	8	104922418	104922419	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:104922418_104922419CC>AA	uc003yls.3	+	2	1256_1257	c.1015_1016CC>AA	c.(1015-1017)cca>AAa	p.P339K	RIMS2_uc003ylp.3_Missense_Mutation_p.P561K|RIMS2_uc003ylw.2_Missense_Mutation_p.P369K|RIMS2_uc003ylq.3_Missense_Mutation_p.P369K|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	639					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGAGGCATCCCCAATGTCTTTG	0.386000										HNSCC(12;0.0054)				247			10		0	0	6.4e-05	0	0
F2RL1	2150	broad.mit.edu	37	5	76128862	76128863	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr5:76128862_76128863GG>TT	uc003keo.3	+	1	605_606	c.430_431GG>TT	c.(430-432)ggg>TTg	p.G144L		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	144					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CTGGATTTATGGGGAAGCTCTT	0.455000														837			12		0	0	6.4e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551903	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:100551902_100551903GG>TT	uc003uxl.1	+	0	1153_1154	c.353_354GG>TT	c.(352-354)agg>aTT	p.R118I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTCACTAGGGGAAGTACGT	0.436000														809			13		0	0	6.4e-05	0	0
MAFB	9935	broad.mit.edu	37	20	39317284	39317284	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:39317284C>T	uc002xji.3	-	0	593	c.207G>A	c.(205-207)tcG>tcA	p.S69S		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA.	69					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				AGCTGGGCGACGAGGGCACGG	0.667000			T	IGH@	MM									76			32		0	0	0.000109025	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:29628299A>G	uc010ztl.1	+	2	243	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000														63			4		0	0	1.23904e-05	0	0
CDK5	1020	broad.mit.edu	37	7	150752177	150752177	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:150752177G>C	uc003wir.2	-	8	704	c.587C>G	c.(586-588)gCc>gGc	p.A196G	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Missense_Mutation_p.A164G	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	196	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CCCAGCATTGGCCAGCTCTGG	0.582000														52			14		0	0	3.45872e-05	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024747	176024747	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr5:176024747C>G	uc003meo.1	-	1	2264	c.2089G>C	c.(2089-2091)Gca>Cca	p.A697P	GPRIN1_uc021yif.1_Missense_Mutation_p.A697P	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	697						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAGGTGCAGAGTCGGCT	0.597000														36			12		0	0	0.00010058	0	0
CFLAR	8837	broad.mit.edu	37	2	201997825	201997825	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:201997825T>G	uc002uxb.4	+	2	820	c.355T>G	c.(355-357)Tac>Gac	p.Y119D	CFLAR_uc002uwy.3_Missense_Mutation_p.Y119D|CFLAR_uc002uwz.3_Missense_Mutation_p.Y119D|CFLAR_uc010zhk.2_Missense_Mutation_p.Y23D|CFLAR_uc010zhl.2_Missense_Mutation_p.Y23D|CFLAR_uc002uxc.4_Missense_Mutation_p.Y119D|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.Y119D|CFLAR_uc002uxe.2_Missense_Mutation_p.Y119D|CFLAR_uc021vuw.1_Missense_Mutation_p.Y119D|CFLAR_uc010fsx.3_Missense_Mutation_p.Y119D|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.Y119D|CFLAR_uc010zhm.2_Missense_Mutation_p.Y23D|CFLAR_uc010fsz.3_5'UTR	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	119	DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CATGAAGGATTACATGGGCCG	0.438000														30			5		0	0	3.59834e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														43			5		0	0	8.12818e-05	0	0
KL	9365	broad.mit.edu	37	13	33638145	33638146	+	Missense_Mutation	DNP	CG	AT	AT	rs139939367		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr13:33638145_33638146CG>AT	uc001uus.3	+	4	2869_2870	c.2861_2862CG>AT	c.(2860-2862)ccg>cAT	p.P954H		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	954			P -> L (in a colorectal cancer sample; somatic mutation).		aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P954L(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AATGGTTTCCCGGGCCCAGAAA	0.446000														86			5		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr20:29628278G>A	uc010ztl.1	+	2	222	c.190G>A	c.(190-192)Gca>Aca	p.A64T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A16T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000														87			5		0	0	0.000157383	0	0
ZNF2	7549	broad.mit.edu	37	2	95846850	95846850	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:95846850T>A	uc002suf.3	+	4	739	c.277T>A	c.(277-279)Tgg>Agg	p.W93R	ZNF2_uc002sug.3_Missense_Mutation_p.W51R|ZNF2_uc010yue.2_Missense_Mutation_p.W55R|ZNF2_uc010fhs.3_Missense_Mutation_p.W13R	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGTTCCAGACTGGGAAACTAA	0.408000														72			22		0	0	0.000229342	0	0
ZFP41	286128	broad.mit.edu	37	8	144332324	144332324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:144332324G>A	uc003yxw.3	+	1	669	c.311G>A	c.(310-312)cGc>cAc	p.R104H	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.R104H	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	104					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GACCACATTCGCCATCAGAGG	0.547000														150			16		0	0	5.01169e-05	0	0
EPC2	26122	broad.mit.edu	37	2	149528378	149528378	+	Silent	SNP	T	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:149528378T>G	uc010zbt.2	+	8	1275	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	416					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TGGACCAAGCTAACCATTCAT	0.353000														66			19		0	0	0.000175454	0	0
APOB	338	broad.mit.edu	37	2	21230543	21230544	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:21230543_21230544CC>AA	uc002red.3	-	25	9324_9325	c.9196_9197GG>TT	c.(9196-9198)ggg>TTg	p.G3066L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3066					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTATCTTCCCTGTTAACCTT	0.401000														647			15		0	0	6.4e-05	0	0
ARMC3	219681	broad.mit.edu	37	10	23326295	23326295	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr10:23326295G>A	uc001irm.4	+	18	2589	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R	ARMC3_uc010qcv.2_Missense_Mutation_p.G829R|ARMC3_uc010qcw.2_Missense_Mutation_p.G573R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	836							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTCGGAAGGGAGTGATTGG	0.527000														25			14		0	0	0.000219431	0	0
APOB	338	broad.mit.edu	37	2	21260865	21260866	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:21260865_21260866GG>TT	uc002red.3	-	4	629_630	c.501_502CC>AA	c.(499-504)ccccca>ccAAca	p.P168T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	168	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGTCTCTGGGGGAACCAGGA	0.475000														588			11		0	0	6.4e-05	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938736	31938737	+	Missense_Mutation	DNP	CG	AT	AT	rs147759642	byFrequency	TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31938736_31938737CG>AT	uc003nyp.1	-	2	877_878	c.544_545CG>AT	c.(544-546)cgg>ATg	p.R182M	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	182							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CATAAGCTCCCGGAGGAGCGGT	0.594000														714			13		0	0	6.4e-05	0	0
SYN2	6854	broad.mit.edu	37	3	12183474	12183475	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr3:12183474_12183475CG>AT	uc003bwm.3	+	5	657_658	c.493_494CG>AT	c.(493-495)cgg>ATg	p.R165M	SYN2_uc003bwl.1_Missense_Mutation_p.R165M	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	169					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCAGGTTCTCCGGAATGGCACA	0.485000														482			8		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724807	140724807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr5:140724807C>T	uc003ljm.2	+	0	1207	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R403C	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	405	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATATTACCGCTTAGTGAC	0.468000														44			20		0	0	0.000175454	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767823	77767823	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:77767823C>G	uc003yau.2	+	9	9053	c.8666C>G	c.(8665-8667)aCa>aGa	p.T2889R	ZFHX4_uc003yaw.1_Missense_Mutation_p.T2844R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2844						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTACATCACAGATGACCCG	0.502000										HNSCC(33;0.089)				95			11		0	0	3.86212e-05	0	0
LMO7	4008	broad.mit.edu	37	13	76379823	76379824	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr13:76379823_76379824CC>AA	uc021rkq.1	+	8	1458_1459	c.1123_1124CC>AA	c.(1123-1125)cca>AAa	p.P375K	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.P142K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	427						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGTTGGACCCCAGAAGATGTG	0.411000														343			9		0	0	6.4e-05	0	0
FANCD2	2177	broad.mit.edu	37	3	10081425	10081425	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr3:10081425G>C	uc003buw.3	+	8	669	c.591G>C	c.(589-591)atG>atC	p.M197I	FANCD2_uc003bux.1_Missense_Mutation_p.M197I|FANCD2_uc003buy.1_Missense_Mutation_p.M197I|FANCD2_uc003buv.3_Missense_Mutation_p.M197I	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	197	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCAAGATCATGCAGCTGATCA	0.488000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					47			16		0	0	5.01169e-05	0	0
DEF6	50619	broad.mit.edu	37	6	35289033	35289033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:35289033C>T	uc003okk.3	+	10	1781	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	DEF6_uc010jvs.3_Missense_Mutation_p.S556F|DEF6_uc010jvt.3_Missense_Mutation_p.S326F	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	581						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CGTGACTCCTCCCTAAAGCGC	0.617000														149			39		0	0	5.1965e-05	0	0
AP4B1	10717	broad.mit.edu	37	1	114438597	114438597	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:114438597C>A	uc001eeb.3	-	8	1760	c.1574G>T	c.(1573-1575)gGc>gTc	p.G525V	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.G357V|AP4B1_uc010owp.2_Missense_Mutation_p.G426V|AP4B1_uc001eed.3_Missense_Mutation_p.G525V|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.G52V	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	525					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATCAATGCCAACTAAGAG	0.448000														17			33		4.4194e-11	2.3638e-09	7.24521e-05	1	0
ZNF777	27153	broad.mit.edu	37	7	149128939	149128939	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:149128939G>T	uc003wfv.3	-	5	2587	c.2424C>A	c.(2422-2424)tgC>tgA	p.C808*		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCAGTGCGTGCAGGGGTAGG	0.721000														27			8		2.74318e-10	1.45459e-08	2.17888e-05	1	0
CDCA3	83461	broad.mit.edu	37	12	6958754	6958754	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:6958754C>T	uc001qrg.2	-	3	647	c.519G>A	c.(517-519)agG>agA	p.R173R	CDCA3_uc001qre.2_Silent_p.R173R|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	173					cell division|mitosis	cytosol		p.S172L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TCTCAGGGTCCCTTGAGGGCT	0.517000														298			47		0	0	0.000147903	0	0
BAG6	7917	broad.mit.edu	37	6	31608220	31608221	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31608220_31608221CG>AT	uc003nvg.4	-	21	3303_3304	c.2989_2990CG>AT	c.(2989-2991)cgg>ATg	p.R997M	BAG6_uc003nvf.4_Missense_Mutation_p.R991M|BAG6_uc003nvi.4_Missense_Mutation_p.R991M|BAG6_uc003nvh.4_Missense_Mutation_p.R991M|BAG6_uc011dnw.2_Missense_Mutation_p.R991M|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	997					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGTTCATCCCGGGAGCCCCCC	0.599000														748			15		0	0	6.4e-05	0	0
KCTD4	386618	broad.mit.edu	37	13	45768292	45768293	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr13:45768292_45768293GG>TT	uc001uzx.4	-	1	814_815	c.410_411CC>AA	c.(409-411)ccc>cAA	p.P137Q	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Missense_Mutation_p.P137Q	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	137						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TAGTCTCTCTGGGTGTTAGCTG	0.396000														129			7		0	0	6.4e-05	0	0
SLC4A5	57835	broad.mit.edu	37	2	74481804	74481805	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:74481804_74481805CC>AA	uc002sko.1	-	8	1056_1057	c.1054_1055GG>TT	c.(1054-1056)ggg>TTg	p.G352L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G352L|SLC4A5_uc010ffc.1_Missense_Mutation_p.G352L|SLC4A5_uc002skp.1_Missense_Mutation_p.G288L|SLC4A5_uc002sks.1_Missense_Mutation_p.G352L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	352						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G352W(3)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTTGCTCTCCCAGAAGGTCCC	0.426000														272			9		0	0	6.4e-05	0	0
ZNF669	79862	broad.mit.edu	37	1	247264377	247264377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:247264377C>T	uc001ice.2	-	3	867	c.694G>A	c.(694-696)Gtt>Att	p.V232I	ZNF669_uc001icf.2_Missense_Mutation_p.V146I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGAACAGAAACGAAGAATTTC	0.378000														11			130		0	0	0.000147903	0	0
DPY19L4	286148	broad.mit.edu	37	8	95773980	95773981	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:95773980_95773981GG>TT	uc003ygx.2	+	7	912_913	c.788_789GG>TT	c.(787-789)tgg>tTT	p.W263F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	263						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATGATGATGTGGGAGTATAGCC	0.342000														839			15		0	0	6.4e-05	0	0
RNF2	6045	broad.mit.edu	37	1	185062302	185062302	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:185062302T>C	uc001grc.1	+	3	591	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	RNF2_uc001grd.1_Intron	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	120	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCGTGATGAGTATGAAGCTCA	0.423000														32			27		0	0	0.000184323	0	0
SNED1	25992	broad.mit.edu	37	2	242011004	242011004	+	Silent	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:242011004C>T	uc002wah.1	+	24	3603	c.3603C>T	c.(3601-3603)ggC>ggT	p.G1201G	SNED1_uc002wai.1_Silent_p.G436G|SNED1_uc002waj.1_Silent_p.G288G|SNED1_uc002wak.3_Silent_p.G288G|SNED1_uc002wal.3_Silent_p.G28G	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1201				HSEPAHLYIITSPRDGADRRW -> Q (in Ref. 3; AAQ04558).	cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCAGGGATGGCGCTGACAGAC	0.697000														5			5		0	0	8.12818e-05	0	0
CEP41	95681	broad.mit.edu	37	7	130042623	130042624	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:130042623_130042624CC>AA	uc003vpz.3	-	6	486_487	c.439_440GG>TT	c.(439-441)ggg>TTg	p.G147L	CEP41_uc003vpy.3_5'Flank|CEP41_uc010lmf.3_5'UTR|CEP41_uc003vqa.3_Missense_Mutation_p.G147L|CEP41_uc011kpg.2_Missense_Mutation_p.G131L	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	147					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.G147W(1)									ATCCAGTTCCCCAACACCACTG	0.485000														484			9		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223177378	223177379	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:223177378_223177379CC>AA	uc001hnu.2	+	9	2965_2966	c.2639_2640CC>AA	c.(2638-2640)ccc>cAA	p.P880Q		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	880					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGGAGCTTCCCCTACAAGCAAG	0.505000														743			14		0	0	6.4e-05	0	0
TGM1	7051	broad.mit.edu	37	14	24729191	24729191	+	Nonsense_Mutation	SNP	G	T	T	rs147879156		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr14:24729191G>T	uc001wod.3	-	4	955	c.831C>A	c.(829-831)taC>taA	p.Y277*	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	277					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTCGGTCCCGTAGTAAATTC	0.557000														19			17		4.35082e-09	2.28734e-07	0.000175454	1	0
FOXM1	2305	broad.mit.edu	37	12	2977762	2977763	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:2977762_2977763GG>TT	uc001qlf.3	-	3	1095_1096	c.812_813CC>AA	c.(811-813)ccc>cAA	p.P271Q	FOXM1_uc001qle.3_Missense_Mutation_p.P271Q|FOXM1_uc009zea.3_Missense_Mutation_p.P270Q|FOXM1_uc009zeb.3_Missense_Mutation_p.P270Q|FOXM1_uc001qlg.3_Missense_Mutation_p.P271Q	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	271					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCTTAAAGTAGGGAAAGTGGTC	0.490000														248			8		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31612966	31612967	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31612966_31612967CC>AA	uc003nvg.4	-	9	1457_1458	c.1143_1144GG>TT	c.(1141-1146)gtggga>gtTTga	p.G382*	BAG6_uc003nvf.4_Nonsense_Mutation_p.G376*|BAG6_uc003nvi.4_Nonsense_Mutation_p.G376*|BAG6_uc003nvh.4_Nonsense_Mutation_p.G376*|BAG6_uc011dnw.2_Nonsense_Mutation_p.G376*|BAG6_uc011dnx.2_Nonsense_Mutation_p.G376*	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	382	4 X 29 AA approximate repeats.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ACAGTGGTTCCCACATTGATCT	0.525000														523			11		0	0	6.4e-05	0	0
CHPF	79586	broad.mit.edu	37	2	220404347	220404347	+	Missense_Mutation	SNP	C	G	G	rs142415191	byFrequency	TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:220404347C>G	uc002vmc.4	-	3	2313	c.2086G>C	c.(2086-2088)Gaa>Caa	p.E696Q	CHPF_uc010zlh.2_Missense_Mutation_p.E534Q	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	696						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTTCTTGTTCTGAGGCTGCC	0.647000														72			29		0	0	8.91981e-05	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166912	96166913	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:96166912_96166913GG>TT	uc022ayk.1	+	0	640_641	c.640_641GG>TT	c.(640-642)ggg>TTg	p.G214L	PLEKHF2_uc003yhn.2_Missense_Mutation_p.G214L	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	214						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGCC	0.480000														901			12		0	0	6.4e-05	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762797	92762797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:92762797C>T	uc003umh.1	-	4	3704	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	SAMD9L_uc003umj.1_Missense_Mutation_p.E830K|SAMD9L_uc003umi.1_Missense_Mutation_p.E830K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E830K|SAMD9L_uc003umk.1_Missense_Mutation_p.E830K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E830K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E830K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E830K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	830										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATGTTTTTTCATATCGCAAA	0.363000														123			24		0	0	3.10358e-05	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468022	35468023	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr21:35468022_35468023CG>AT	uc021wir.1	+	0	525_526	c.525_526CG>AT	c.(523-528)accgga>acATga	p.G176*	SLC5A3_uc002yto.3_Nonsense_Mutation_p.G176*|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	176						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGACTGTCACCGGAGGCCTTGT	0.470000														507			11		0	0	6.4e-05	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952100	95952100	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:95952100G>T	uc003yhg.3	-	2	845	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	TP53INP1_uc003yhh.3_Missense_Mutation_p.P154Q	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	154					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GGGACTACTTGGGCTATGTAA	0.448000														687			11		0.000151284	0.00775459	0.000151284	1	0
SLC6A7	6534	broad.mit.edu	37	5	149581914	149581914	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr5:149581914G>C	uc003lrr.3	+	6	1234	c.863G>C	c.(862-864)tGg>tCg	p.W288S		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	288						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCACAGGTGTGGATTGAAGCT	0.547000														77			33		0	0	0.000132358	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298101	120298102	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:120298101_120298102CC>AA	uc001eid.3	-	5	1223_1224	c.1135_1136GG>TT	c.(1135-1137)ggg>TTg	p.G379L	HMGCS2_uc010oxj.2_Missense_Mutation_p.G337L|HMGCS2_uc021osw.1_Missense_Mutation_p.G145L	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.G379V(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GTACATGTTCCCATTGTGAGTG	0.535000														845			12		0	0	6.4e-05	0	0
NEB	4703	broad.mit.edu	37	2	152515663	152515664	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:152515663_152515664CC>AA	uc021vrb.1	-	44	6019_6020	c.5990_5991GG>TT	c.(5989-5991)tgg>tTT	p.W1997F	NEB_uc002txu.3_Missense_Mutation_p.W1997F|NEB_uc021vrc.1_Missense_Mutation_p.W1997F|NEB_uc010fnx.3_Missense_Mutation_p.W1997F|NEB_uc021vrd.1_Missense_Mutation_p.W1997F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1997					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCAGCCTCCCATGCTTGTTT	0.347000														224			7		0	0	6.4e-05	0	0
MARCH7	64844	broad.mit.edu	37	2	160604709	160604709	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr2:160604709C>A	uc002uax.3	+	4	1030	c.908C>A	c.(907-909)tCc>tAc	p.S303Y	MARCH7_uc010foq.3_Missense_Mutation_p.S303Y|MARCH7_uc010zcn.2_Missense_Mutation_p.S247Y|MARCH7_uc010for.3_Missense_Mutation_p.S265Y|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	303	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGTCAGGATTCCTTGAATACA	0.403000														53			18		2.39187e-15	1.30198e-13	0.000132079	1	0
ACSM1	116285	broad.mit.edu	37	16	20702419	20702419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr16:20702419G>A	uc002dhm.1	-	0	160	c.92C>T	c.(91-93)tCt>tTt	p.S31F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S31F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	31					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCTGATAAAGACCGGCAGCG	0.498000														137			46		0	0	0.000147903	0	0
CLCC1	23155	broad.mit.edu	37	1	109479879	109479880	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:109479879_109479880CC>AA	uc021ora.1	-	8	1213_1214	c.1202_1203GG>TT	c.(1201-1203)agg>aTT	p.R401I	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.R351I|CLCC1_uc001dwf.1_Missense_Mutation_p.R401I|CLCC1_uc009wes.1_Missense_Mutation_p.R280I|CLCC1_uc009wet.1_Missense_Mutation_p.R216I	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	401						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCATTTGGCCCCTATAATGGAA	0.505000														535			11		0	0	6.4e-05	0	0
PPOX	5498	broad.mit.edu	37	1	161140708	161140709	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:161140708_161140709CC>AA	uc001fyj.2	+	11	1550_1551	c.1260_1261CC>AA	c.(1258-1263)ccccag>ccAAag	p.Q421K	PPOX_uc001fyg.2_Missense_Mutation_p.Q421K|PPOX_uc010pkg.1_Missense_Mutation_p.Q259K|PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	421					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTGCATTCCCCAGTATACACT	0.470000														195			7		0	0	6.4e-05	0	0
VARS	7407	broad.mit.edu	37	6	31752209	31752210	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr6:31752209_31752210CC>AA	uc003nxe.3	-	11	1960_1961	c.1537_1538GG>TT	c.(1537-1539)ggg>TTg	p.G513L	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	513					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.G513W(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACGAGGACCCCGAACTCCACC	0.594000														743			14		0	0	6.4e-05	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102995935	102995935	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr11:102995935T>C	uc001phn.1	+	11	1912	c.1768T>C	c.(1768-1770)Tct>Cct	p.S590P	DYNC2H1_uc009yxe.1_Missense_Mutation_p.S590P|DYNC2H1_uc001pho.2_Missense_Mutation_p.S590P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	590	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCGTCAGCTCTCTGCACTTGG	0.363000														22			12		0	0	0.000219431	0	0
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr17:10318882G>A	uc002gmm.2	-	6	650	c.555C>T	c.(553-555)gcC>gcT	p.A185A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	185	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTTTCCGGCACCAGATT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					96			5		0	0	0.000157383	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717046	222717047	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:222717046_222717047CC>AA	uc001hnh.1	-	1	864_865	c.806_807GG>TT	c.(805-807)ggg>gTT	p.G269V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	269					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCTCTCATCCCCGATCCATGG	0.520000														767			13		0	0	6.4e-05	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014091	58014092	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:58014091_58014092CC>AA	uc001spe.3	+	0	399_400	c.88_89CC>AA	c.(88-90)cca>AAa	p.P30K	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	30						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGCCCCCTCCCCACAGCACACC	0.545000														868			17		0	0	6.4e-05	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372548	67372548	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:67372548G>A	uc003xwb.4	+	12	1202	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.D342N|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.D320N	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	390					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.T389T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTAGGAGCCGACACCCGCAC	0.527000											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		203			22		0	0	4.16121e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95862268	95862269	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr8:95862268_95862269CC>AA	uc003yhb.3	+	11	1582_1583	c.1456_1457CC>AA	c.(1456-1458)cct>AAt	p.P486N	INTS8_uc003yha.1_Missense_Mutation_p.P486N|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313N	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	486					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGAGATCCCCTAGAGTAAAT	0.391000														787			14		0	0	6.4e-05	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													---	93	---	---	9	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													---	4	---	---	2	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													---	217	---	---	7	---					
CYP26C1	340665	broad.mit.edu	37	10	94828268	94828268	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr10:94828268delC	uc010qns.2	+	5	1383	c.1383delC	c.(1381-1383)ggcfs	p.G461fs	CYP26C1_uc009xud.3_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	461					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCTGCCTCGGCCAGGAGCTGG	0.706													---	4	---	---	2	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	4	---	---	2	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	-	-			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr12:46318575_46318577delGGT	uc001rox.3	-	11	4127_4129	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_uc001row.3_In_Frame_Del_p.965_966PP>P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1280	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													---	403	---	---	11	---					
LRRC37A2	474170	broad.mit.edu	37	17	44626186	44626186	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr17:44626186delG	uc002ikn.1	+	8	3684	c.3681delG	c.(3679-3681)gcgfs	p.A1227fs	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Frame_Shift_Del_p.A188fs|LRRC37A2_uc010dax.2_Frame_Shift_Del_p.A157fs	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1227						integral to membrane		p.A1227V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGAAGTTAGCGGGAAACGCCG	0.592													---	184	---	---	23	---					
PPP6R1	22870	broad.mit.edu	37	19	55748038	55748039	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A1Q1-06A-21D-A196-08	TCGA-D3-A1Q1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0583407-712d-46f3-8c4e-4eeaa0149087	628778f0-a013-498a-938a-bea1361add23	g.chr19:55748038_55748039insC	uc002qjv.3	-	15	2229_2230	c.2146_2147insG	c.(2146-2148)gccfs	p.A716fs	PPP6R1_uc002qjw.4_Frame_Shift_Ins_p.A654fs	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	654	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						GCCCAGACGGGCCCCCCTGGCC	0.649													---	21	---	---	7	---