Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF615	284370	broad.mit.edu	37	19	52497333	52497333	+	Silent	SNP	A	A	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:52497333A>C	ENST00000602063.1	-	6	1345	c.996T>G	c.(994-996)acT>acG	p.T332T	ZNF615_ENST00000598071.1_Silent_p.T343T|ZNF615_ENST00000391795.3_Silent_p.T337T|ZNF615_ENST00000594083.1_Silent_p.T343T|ZNF615_ENST00000376716.5_Silent_p.T332T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTGATGTGTAGTGAGACTGA	0.423000													28	82					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893683	43893683	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:43893683G>C	ENST00000450892.2	-	24	4689	c.4612C>G	c.(4612-4614)Cta>Gta	p.L1538V	STRC_ENST00000541030.1_Missense_Mutation_p.L765V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1538					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGATCTCCTAGACCTATTAAG	0.537000													9	41					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140439656	140439656	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:140439656C>G	ENST00000288602.6	-	17	2143	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	695	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTGAGGCACTCTGCCATTAAT	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	59					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541017	72541017	+	Missense_Mutation	SNP	C	C	T	rs143534670		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:72541017C>T	ENST00000330793.1	-	2	491	c.131G>A	c.(130-132)cGc>cAc	p.R44H		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCTCATAGCGACACTGCAC	0.532000													10	46					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373216	33373216	+	Silent	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:33373216G>C	ENST00000428849.2	+	7	1794	c.1344G>C	c.(1342-1344)ctG>ctC	p.L448L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	448	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTCAGGAGCTGAGTGGTCAGG	0.612000													13	13					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671641	54671641	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:54671641G>A	ENST00000332822.4	+	1	582	c.57G>A	c.(55-57)ggG>ggA	p.G19G		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	19					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					TGGTCCTGGGGCTGCGGGCGA	0.721000													4	19					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2290677	2290677	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:2290677G>A	ENST00000585527.1	-	1	1346	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R367C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	367	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						AGGGTCTTGCGACGCTGCACG	0.697000													9	25					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103043931	103043931	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:103043931C>G	ENST00000375735.2	+	35	5599	c.5455C>G	c.(5455-5457)Cat>Gat	p.H1819D	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1819D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1819	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|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)		AGCTATGTCTCATCCAGACAA	0.373000													7	10					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243673	10243673	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:10243673G>C	ENST00000418404.3	-	16	2103	c.1940C>G	c.(1939-1941)tCt>tGt	p.S647C	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S647C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	647	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTCTGGAAAGAGGAGCCCTT	0.537000													9	33					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841664	5841664	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:5841664C>G	ENST00000317037.2	+	1	121	c.99C>G	c.(97-99)ttC>ttG	p.F33L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCCATTCTGCTTTATGT	0.557000													32	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													9	140					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246193	100246193	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:100246193T>C	ENST00000160382.5	-	7	761	c.655A>G	c.(655-657)Atg>Gtg	p.M219V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	219					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTGCGATCATGTAAGGTGGG	0.587000													4	10					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285781	238285781	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:238285781G>A	ENST00000295550.4	-	7	3156	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	COL6A3_ENST00000346358.4_Missense_Mutation_p.L702F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L701F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L495F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L696F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L295F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L696F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L696F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	902	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCACAAGATTCAGGATC	0.532000													6	32					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372315	175372315	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:175372315C>A	ENST00000367674.2	-	4	1645	c.937G>T	c.(937-939)Gtc>Ttc	p.V313F	TNR_ENST00000263525.2_Missense_Mutation_p.V313F			Q92752	TENR_HUMAN	tenascin R		Cys-rich.|EGF-like 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTTCACAGACGCAGAGCCCC	0.607000													10	51					0.00621372	0.00639865	1	1	0
CUBN	8029	broad.mit.edu	37	10	17113580	17113580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:17113580C>A	ENST00000377833.4	-	19	2535	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	824	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGACCCCTTCTCCAGTTAAT	0.398000													10	33					9.70103e-10	1.03597e-09	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202698199	202698199	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:202698199G>A	ENST00000367265.3	-	27	5764	c.4600C>T	c.(4600-4602)Cgc>Tgc	p.R1534C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1534					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACAGTACAGCGCACACAGATG	0.478000													23	112					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24668617	24668617	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:24668617G>A	ENST00000361548.4	+	9	1290	c.1060G>A	c.(1060-1062)Gta>Ata	p.V354I	GRHL3_ENST00000236255.4_Missense_Mutation_p.V359I|GRHL3_ENST00000350501.5_Missense_Mutation_p.V354I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V308I|GRHL3_ENST00000342072.4_Missense_Mutation_p.V261I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	354					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTTCATCGGCGTAAACTGTCT	0.577000													4	151					0	0	1	0	0
TCEB1	6921	broad.mit.edu	37	8	74858903	74858903	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:74858903G>C	ENST00000518127.1	-	4	393	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	TCEB1_ENST00000520242.1_Missense_Mutation_p.L101V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.L101V|TCEB1_ENST00000523815.1_Missense_Mutation_p.L101V|TCEB1_ENST00000520210.1_Missense_Mutation_p.L85V|TCEB1_ENST00000522337.1_Missense_Mutation_p.L101V|TCEB1_ENST00000284811.8_Missense_Mutation_p.L101V	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	101					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			AGCAGTTCCAGTGCAATTTCA	0.358000													7	52					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556054	95556054	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:95556054C>G	ENST00000297591.5	-	2	255		c.e2+1		KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTTGACTTACCCATATGCTC	0.348000													26	116					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352230	44352230	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:44352230G>A	ENST00000324461.7	+	7	1774	c.1477G>A	c.(1477-1479)Gga>Aga	p.G493R	ZNF283_ENST00000588797.1_Missense_Mutation_p.G354R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAAAGAATGCGGAAAGACCTT	0.408000													45	71					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926753	45926753	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:45926753C>T	ENST00000395629.2	+	11	2316	c.1986C>T	c.(1984-1986)caC>caT	p.H662H	MAPK8IP1_ENST00000241014.2_Silent_p.H672H			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	672	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTGCCTGCCACGTCTTTGTGT	0.642000													12	37					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48630553	48630553	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:48630553C>T	ENST00000328333.8	-	5	771	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V222M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	222	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACAGGCACGCCACCAGCA	0.577000													9	45					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893596	43893596	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:43893596G>C	ENST00000450892.2	-	24	4776	c.4699C>G	c.(4699-4701)Cag>Gag	p.Q1567E	STRC_ENST00000541030.1_Missense_Mutation_p.Q794E	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1567					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTGTTACCTGAGTGGTGCTC	0.527000													6	21					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539296	153539296	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chrX:153539296G>C	ENST00000369915.3	+	4	649	c.460G>C	c.(460-462)Gat>Cat	p.D154H	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.D98H	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	154					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCAATCTTTGATGTGAACCG	0.522000													13	10					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063284	180063284	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:180063284G>C	ENST00000367607.3	+	34	8462	c.8044G>C	c.(8044-8046)Gaa>Caa	p.E2682Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2682						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATCGCTGCAGAAGATGACAC	0.418000													21	11					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002908	58002908	+	Silent	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:58002908G>C	ENST00000548198.1	+	5	2521	c.1017G>C	c.(1015-1017)ctG>ctC	p.L339L	DTX3_ENST00000548804.1_Silent_p.L339L|DTX3_ENST00000337737.3_Silent_p.L339L|DTX3_ENST00000551632.1_Silent_p.L342L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	339					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGGAGCTGAGAGCGAAGG	0.547000													21	144					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063132	180063132	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:180063132G>C	ENST00000367607.3	+	34	8310	c.7892G>C	c.(7891-7893)aGa>aCa	p.R2631T	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2631						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AATAGAAGTAGAAGCCTTAAA	0.388000													20	15					0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51207834	51207834	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:51207834G>A	ENST00000262053.3	+	5	392	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	124					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GGCAAGTCCAGGCACAGATGG	0.403000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								23	45					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127578	152127578	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:152127578A>G	ENST00000316073.3	-	3	2061	c.1997T>C	c.(1996-1998)aTc>aCc	p.I666T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	666	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTTGTTGGATTTGTGCTAA	0.527000													11	69					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13415230	13415230	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:13415230G>A	ENST00000254508.5	-	12	1657	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	525					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCATCTCACCGAAATGGAGTG	0.577000													16	20					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39555049	39555049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr14:39555049G>A	ENST00000537403.1	-	3	1341	c.139C>T	c.(139-141)Cga>Tga	p.R47*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R220*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R249*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R123*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	249					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CAAGGGTCTCGCTGGAGTTCT	0.438000													18	54					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753505	171753505	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:171753505G>T	ENST00000361735.3	+	2	1045	c.779G>T	c.(778-780)cGc>cTc	p.R260L	METTL13_ENST00000458517.1_Missense_Mutation_p.R259L|METTL13_ENST00000362019.3_Missense_Mutation_p.R174L|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	260							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGCCAGCTGCGCCGCAAGGCC	0.677000													6	31					0.0215528	0.0219331	1	1	0
TOMM20L	387990	broad.mit.edu	37	14	58874151	58874151	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr14:58874151G>A	ENST00000360945.2	+	4	412	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	124					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						CAAGGTATTTGAGATGCTGTT	0.418000													21	46					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149931146	149931146	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chrX:149931146T>C	ENST00000445323.2	+	16	2087	c.1966T>C	c.(1966-1968)Tct>Cct	p.S656P	MTMR1_ENST00000370390.3_Missense_Mutation_p.S648P|MTMR1_ENST00000541925.1_Missense_Mutation_p.S554P|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.S648P			Q13613	MTMR1_HUMAN	myotubularin related protein 1	648						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATCCTCATCTGAGCGGGG	0.677000													17	4					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631383	62631383	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:62631383G>A	ENST00000337910.5	-	11	2285	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R650C|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	650					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGGGCCAGCGGTGCCGCTCG	0.488000													11	24					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632505	158632505	+	Silent	SNP	A	A	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:158632505A>T	ENST00000368147.4	-	17	2631	c.2451T>A	c.(2449-2451)acT>acA	p.T817T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGGTGGAAGTAGCTGAGG	0.498000													30	37					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104189818	104189818	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:104189818G>A	ENST00000374855.4	-	5	610	c.486C>T	c.(484-486)ctC>ctT	p.L162L	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	162					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CCTGGATAGCGAGGCTGGATG	0.557000													10	32					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38980855	38980855	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:38980855G>T	ENST00000355481.4	+	36	6085	c.5954G>T	c.(5953-5955)aGc>aTc	p.S1985I	RYR1_ENST00000359596.3_Missense_Mutation_p.S1985I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1985I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1985	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAAGCCTTCAGCATGACCGCA	0.602000													3	18					0.115264	0.115934	1	1	0
USP8	9101	broad.mit.edu	37	15	50773861	50773861	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:50773861G>A	ENST00000433963.1	+	12	1902	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	USP8_ENST00000307179.4_Missense_Mutation_p.E468K|USP8_ENST00000396444.3_Missense_Mutation_p.E468K|USP8_ENST00000425032.3_Missense_Mutation_p.E391K			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	468					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TATTCATGCAGAAACTGCTCT	0.398000													14	31					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432372	70432372	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:70432372G>A	ENST00000393640.4	-	1	2169	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.S21F|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	21					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GAAGAGCAGGGACATGATGAA	0.647000													25	13					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991815	21991815	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr14:21991815C>T	ENST00000327430.3	-	2	2341	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.A546T|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	683							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCTGGACTGGCCTTGTGGCCC	0.577000													11	25					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216278	27216278	+	Missense_Mutation	SNP	C	C	A	rs150818020		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:27216278C>A	ENST00000374135.4	-	1	510	c.310G>T	c.(310-312)Ggc>Tgc	p.G104C		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	104							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						AAGTAGTGGCCGCGGAGGGGG	0.667000													11	62					1.58986e-06	1.66695e-06	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	40					0	0	1	0	0
TRGV9	6983	broad.mit.edu	37	7	38357047	38357047	+	RNA	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:38357047C>T	ENST00000444775.2	-	0	1415																											AAACTACTTACGAGCCCCAAG	0.448000													5	18					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107669583	107669583	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:107669583C>T	ENST00000388781.3	-	33	5134	c.5051G>A	c.(5050-5052)gGa>gAa	p.G1684E	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1684E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1684E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1684	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTTGTTAGTCCTGTAGTGCT	0.363000													7	60					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134363330	134363330	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:134363330G>A	ENST00000357304.4	+	27	6127	c.6072G>A	c.(6070-6072)gcG>gcA	p.A2024A	PRRC2B_ENST00000372249.1_Silent_p.A121A|PRRC2B_ENST00000458550.1_Silent_p.A1330A|PRRC2B_ENST00000405995.1_Silent_p.A1330A	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2024							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CATACTCGGCGTTCCCAGGCA	0.617000													7	17					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19478199	19478199	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chrX:19478199C>T	ENST00000338883.4	-	5	791	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.A96A|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	264							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTAGCTCCTTCGCCAGTTCCT	0.423000													5	6					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42736437	42736437	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:42736437C>T	ENST00000263805.4	-	6	3641	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L	ZNF106_ENST00000565611.1_Silent_p.L290L|ZNF106_ENST00000565380.1_Silent_p.L333L	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		TATGGGTCCTCAGTGCACTCA	0.378000													10	70					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032412	92032412	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:92032412C>T	ENST00000285419.3	-	3	649	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	112						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCCTATTCGCCGAGATGTGTC	0.378000													12	105					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23406144	23406144	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:23406144C>T	ENST00000400181.4	+	18	2258	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	KDM1A_ENST00000542151.1_Silent_p.F718F|KDM1A_ENST00000356634.3_Silent_p.F694F|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	694	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTCCTCTTCTGGAACCTCT	0.398000													12	45					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461453	138461453	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:138461453C>T	ENST00000477593.1	-	4	641	c.568G>A	c.(568-570)Gat>Aat	p.D190N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D190N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	190	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAAGTTTATCTTCTAAGTTT	0.358000													12	98					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606644	159606644	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:159606644G>A	ENST00000337808.6	+	6	1807	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.M178I|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.M486I|SCHIP1_ENST00000482804.1_Missense_Mutation_p.M183I|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.M459I|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.M397I|SCHIP1_ENST00000445224.2_Missense_Mutation_p.M167I|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.M370I	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		410						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AATGCTTGATGAAAAGAAGTT	0.418000													18	117					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	105					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703968	47703968	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:47703968C>T	ENST00000254480.5	-	20	2133	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	672					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTGAATTCTCAAGGTATGGG	0.468000													13	44					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100832242	100832242	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:100832242C>T	ENST00000358544.2	+	49	9072	c.8961C>T	c.(8959-8961)ccC>ccT	p.P2987P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P2962P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2987					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACTTCTGCCCTGGGCCCTGC	0.438000													72	227					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68620595	68620595	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:68620595C>T	ENST00000423218.2	-	16	2002	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	ITGA11_ENST00000315757.7_Missense_Mutation_p.R636H			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	636					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AACCACTGGGCGGGACCTGGA	0.602000													18	17					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19735409	19735409	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:19735409C>G	ENST00000396085.1	+	1	529	c.168C>G	c.(166-168)atC>atG	p.I56M	NAV2_ENST00000396087.3_Missense_Mutation_p.I56M|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.I56M	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	56						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTAGCCAGATCCCCCTGAAAT	0.677000													3	16					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896317	43896317	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:43896317G>C	ENST00000450892.2	-	22	4329	c.4252C>G	c.(4252-4254)Cta>Gta	p.L1418V	STRC_ENST00000541030.1_Missense_Mutation_p.L645V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1418					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTTTTCTAGAAGCCGCTCC	0.577000													11	13					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884726	228884726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:228884726T>A	ENST00000392056.3	-	7	890	c.844A>T	c.(844-846)Aaa>Taa	p.K282*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K282*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	282						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTTCTGTTTTAATCAATGGT	0.443000													27	125					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582555	31582555	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr14:31582555C>G	ENST00000399332.1	-	33	6480	c.5992G>C	c.(5992-5994)Gaa>Caa	p.E1998Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1998Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403000													36	92					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346793	131346793	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:131346793C>G	ENST00000372739.3	+	17	2536	c.2426C>G	c.(2425-2427)tCt>tGt	p.S809C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S809C|SPTAN1_ENST00000372731.4_Missense_Mutation_p.S809C	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	809					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTGCCGCATCTACCAACAGA	0.542000													9	24					0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88312141	88312141	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr4:88312141G>C	ENST00000358290.4	-	1	397	c.82C>G	c.(82-84)Cct>Gct	p.P28A	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28A	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	28					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTCTTAGGAATAAAAAGC	0.468000													11	27					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195000152	195000152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:195000152C>A	ENST00000326793.6	-	23	2472	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*	ACAP2_ENST00000472860.1_5'UTR	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	748					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TGATAAGTTTCATCACCTGCA	0.274000													7	54					0.00198382	0.00205509	1	1	0
IP6K2	51447	broad.mit.edu	37	3	48728794	48728794	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:48728794G>A	ENST00000328631.5	-	4	773	c.550C>T	c.(550-552)Cac>Tac	p.H184Y		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	184					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TGTTGCTGGTGACATTTCATG	0.428000													28	131					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161143666	161143666	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:161143666C>T	ENST00000319769.5	-	5	885	c.663G>A	c.(661-663)atG>atA	p.M221I	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M221I|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	221					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CAAACTTGTTCATAGCAACGG	0.547000													9	68					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121296	38121296	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:38121296C>T	ENST00000395867.3	-	6	1537	c.987G>A	c.(985-987)gtG>gtA	p.V329V	ZNF248_ENST00000357328.4_Silent_p.V329V|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTTTGTCACTCACTTTATATT	0.358000													16	70					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	69					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33318788	33318788	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:33318788G>A	ENST00000379540.3	+	8	1710	c.1648G>A	c.(1648-1650)Gat>Aat	p.D550N	NFX1_ENST00000379521.4_Missense_Mutation_p.D550N|NFX1_ENST00000318524.6_Missense_Mutation_p.D550N	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	550					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGGAAAGTCTGATGGATTTGG	0.373000													31	78					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222308	29222308	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:29222308C>T	ENST00000379558.4	+	4	752	c.401C>T	c.(400-402)tCa>tTa	p.S134L	FAM179A_ENST00000403861.2_Missense_Mutation_p.S134L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	134							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGGCTCTCAGAGGGCTTG	0.642000													6	6					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175902	79175902	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr13:79175902G>A	ENST00000377208.5	-	2	1119	c.908C>T	c.(907-909)tCa>tTa	p.S303L	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	303	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CTGGCTGAGTGAGCCCACGCC	0.667000													12	19					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782168	41782168	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:41782168G>A	ENST00000392006.3	+	5	924	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G251R|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G151R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G151R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G208R|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G162R|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G151R	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	251	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCCAGCTATGGGGTCAGAAG	0.547000													16	81					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315676	40315676	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:40315676G>C	ENST00000264661.3	-	13	2757	c.2425C>G	c.(2425-2427)Cag>Gag	p.Q809E	KCNH4_ENST00000607371.1_Missense_Mutation_p.Q809E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	809					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGAGAAGCTGAGGGGGCTTC	0.652000													5	13					0	0	1	0	0
RP4-583P15.15	0	broad.mit.edu	37	20	62340429	62340429	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr20:62340429G>A	ENST00000490623.2	+	1	214	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	ZGPAT_ENST00000328969.5_Missense_Mutation_p.R166H|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000448100.2_Missense_Mutation_p.R166H|ZGPAT_ENST00000369967.3_Missense_Mutation_p.R166H|ZGPAT_ENST00000355969.6_Missense_Mutation_p.R166H|ZGPAT_ENST00000357119.4_Missense_Mutation_p.R166H																							GCGGGTGTCCGTGTGCTTTAC	0.587000													4	97					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761717	92761717	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:92761717C>T	ENST00000318238.4	-	5	4784	c.3568G>A	c.(3568-3570)Gac>Aac	p.D1190N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1190N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1190N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1190										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)			TTATACATGTCATATCGTCTC	0.393000													32	159					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67166812	67166812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:67166812G>T	ENST00000219139.3	+	6	636	c.448G>T	c.(448-450)Gag>Tag	p.E150*	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.E150*	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	150										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCCAAAGTATGAGGTTAGCCC	0.483000													29	226					3.99451e-17	4.34623e-17	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129465190	129465190	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:129465190G>C	ENST00000421865.2	+	5	833	c.784G>C	c.(784-786)Gac>Cac	p.D262H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	262	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCTCACAAAGACCCAAGAGA	0.403000													20	31					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906959	10906959	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr21:10906959C>G	ENST00000298232.7	-	23	1915	c.1548G>C	c.(1546-1548)gaG>gaC	p.E516D	TPTE_ENST00000361285.4_Missense_Mutation_p.E534D|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E496D	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	534	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAAAGTATCTCCACGGCAA	0.363000													5	63					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160755292	160755292	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:160755292G>C	ENST00000263636.4	-	2	400	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L125V|LY75_ENST00000554112.1_Missense_Mutation_p.L125V|LY75_ENST00000553424.1_Missense_Mutation_p.L125V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L125V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCATCCTTCAGAGCCAGCCGG	0.517000													12	42					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90368471	90368471	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:90368471C>A	ENST00000369393.3	-	89	14994	c.14879G>T	c.(14878-14880)gGa>gTa	p.G4960V	MDN1_ENST00000428876.1_Missense_Mutation_p.G4960V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4960					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCATCAGCTCCTGTGTCCAT	0.532000													31	107					1.08312e-15	1.17112e-15	1	1	0
SMARCB1	6598	broad.mit.edu	37	22	24175856	24175856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr22:24175856G>T	ENST00000344921.6	+	8	1318	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SMARCB1_ENST00000263121.7_Nonsense_Mutation_p.E362*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.E316*|SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.E353*			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	362					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGATGGAGAAGAAGAT	0.632000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							31	11					2.42023e-17	2.65e-17	1	1	0
ETV7	51513	broad.mit.edu	37	6	36343676	36343676	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:36343676G>A	ENST00000339796.5	-	3	1124	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.D93D|ETV7_ENST00000340181.4_Silent_p.D93D|ETV7_ENST00000373738.1_Intron	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	93	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCCGGAAGTCGTCCTTGGTGA	0.652000													12	60					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155408566	155408566	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:155408566G>A	ENST00000368346.3	-	5	6019	c.5380C>T	c.(5380-5382)Cat>Tat	p.H1794Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1794Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1794					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.H1794delH(1)		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)			CTCTTGATATGATGGGGGGAA	0.433000													91	59					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265358	25265358	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr13:25265358T>A	ENST00000218548.6	+	8	1389	c.1056T>A	c.(1054-1056)aaT>aaA	p.N352K	ATP12A_ENST00000381946.3_Missense_Mutation_p.N346K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	346					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGTGGCCAATGTGCCCGAGG	0.572000													14	31					0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578220	48578220	+	Silent	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:48578220C>G	ENST00000316554.3	+	1	855	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	105						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TGGGCGTGGTCGGCGGCAAGG	0.682000													4	8					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641867	94641867	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:94641867G>A	ENST00000258526.4	+	13	2826	c.2577G>A	c.(2575-2577)ctG>ctA	p.L859L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	859					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACAGAACTGGAAGTGAAAA	0.493000													9	33					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95743972	95743972	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr5:95743972G>C	ENST00000311106.3	-	9	1388	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S337C	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	384	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGAGGTGCAGAGGCCGAGGT	0.542000													3	17					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32145937	32145937	+	Silent	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:32145937G>C	ENST00000295065.5	-	4	564	c.255C>G	c.(253-255)ctC>ctG	p.L85L	MEMO1_ENST00000426310.2_Silent_p.L62L|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Silent_p.L88L|MEMO1_ENST00000404530.1_Silent_p.L85L|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CACATCGAGAGAGGGGCACAT	0.383000													9	41					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439656	150439656	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:150439656G>T	ENST00000358647.3	+	3	796	c.429G>T	c.(427-429)atG>atT	p.M143I	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGGCCATGAGACATGTGG	0.572000													27	68					9.04412e-07	9.54044e-07	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64580109	64580109	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:64580109C>G	ENST00000498707.1	-	28	4523	c.4181G>C	c.(4180-4182)tGc>tCc	p.C1394S	ADAMTS9_ENST00000295903.4_Splice_Site_p.C1366S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1394	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCTTAGTGCACTGGAAGAA	0.428000													23	159					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													5	140					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28841303	28841303	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr13:28841303G>A	ENST00000399613.1	+	10	1108	c.1045G>A	c.(1045-1047)Gta>Ata	p.V349I	PAN3_ENST00000282391.5_Missense_Mutation_p.V237I|PAN3_ENST00000380958.3_Missense_Mutation_p.V549I			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	549	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTCAAATATCGTAACTTTGCG	0.388000													25	144					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195480015	195480015	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:195480015G>A	ENST00000463781.3	-	20	15874	c.15415C>T	c.(15415-15417)Ctg>Ttg	p.L5139L	MUC4_ENST00000346145.4_Silent_p.L903L|MUC4_ENST00000475231.1_Silent_p.L5087L|MUC4_ENST00000349607.4_Silent_p.L852L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1896					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACAGCCCAGAGTCTGGGAG	0.567000													89	44					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115146886	115146886	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr5:115146886C>G	ENST00000250535.4	-	3	931	c.375G>C	c.(373-375)ttG>ttC	p.L125F	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	125					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	GGTTTTCCCTCAAGACTCTTT	0.393000													57	64					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357086	10357086	+	Silent	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:10357086G>T	ENST00000255381.2	-	23	2918	c.2808C>A	c.(2806-2808)atC>atA	p.I936I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	936					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCAGCATTGATCTCTTCCT	0.438000													35	143					5.59293e-11	6.00979e-11	1	1	0
CRIM1	51232	broad.mit.edu	37	2	36704049	36704049	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:36704049G>A	ENST00000280527.2	+	6	1376	c.1009G>A	c.(1009-1011)Gta>Ata	p.V337I		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	337	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCAGCCTGCGTATTTAACAA	0.413000													24	67					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625524	132625524	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:132625524G>A	ENST00000397333.3	-	9	1330	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	431	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGAGTAGCTGAGAAGAGCAG	0.617000													14	40					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	376879	376879	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr20:376879G>A	ENST00000217233.3	+	4	1175	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	TRIB3_ENST00000422053.2_Missense_Mutation_p.V235M	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	208	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGACTCCTGCGTGCTGACTGG	0.612000													23	21					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34313052	34313052	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr20:34313052C>T	ENST00000361162.6	-	7	826	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RBM39_ENST00000528062.3_Missense_Mutation_p.E126K|RBM39_ENST00000253363.6_Missense_Mutation_p.E148K|RBM39_ENST00000407261.4_5'UTR	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	148					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TCTCTTTCCTCAGGAGTTAAA	0.313000													14	59					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516426	138516426	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:138516426G>A	ENST00000371763.1	-	5	601	c.348C>T	c.(346-348)gaC>gaT	p.D116D		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	116					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAAGAAGGCGTCCACCATGA	0.532000													28	40					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237300714	237300714	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:237300714C>G	ENST00000409907.3	-	11	1592	c.1318G>C	c.(1318-1320)Gtt>Ctt	p.V440L	IQCA1_ENST00000309507.5_Splice_Site_p.V436L|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Splice_Site_p.V399L	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	440	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AACTCATCAACCTAGGAGAAT	0.383000													9	51					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196778475	196778475	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:196778475C>T	ENST00000346964.2	-	25	2836	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	DLG1_ENST00000419354.1_Missense_Mutation_p.E861K|DLG1_ENST00000450955.1_Missense_Mutation_p.E850K|DLG1_ENST00000392382.2_Missense_Mutation_p.E828K|DLG1_ENST00000448528.2_Missense_Mutation_p.E861K|DLG1_ENST00000357674.4_Missense_Mutation_p.E850K|DLG1_ENST00000443183.1_Missense_Mutation_p.E757K|DLG1_ENST00000452595.1_Missense_Mutation_p.E745K|DLG1_ENST00000422288.1_Missense_Mutation_p.E810K|DLG1_ENST00000314062.3_Missense_Mutation_p.E810K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	861	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	p.E883Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AACTCCTGTTCCAGTTTCATG	0.378000													7	66					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203653659	203653659	+	Silent	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:203653659G>C	ENST00000392237.2	-	12	1294	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	ICA1L_ENST00000358299.2_Silent_p.L379L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	379										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGATGTGAGACTGGCAC	0.498000													9	44					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25455076	25455076	+	RNA	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:25455076G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGTCAATGATGAGAACCTTAT	0.507000													62	344					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357039	10357039	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:10357039G>A	ENST00000255381.2	-	23	2965	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	952					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAGCTCTGAACATTCATC	0.443000													38	134					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564958	37564958	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:37564958C>T	ENST00000300651.6	-	17	3739	c.3516G>A	c.(3514-3516)atG>atA	p.M1172I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1172	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTGAGGTTTCATCTTGGTGC	0.488000										HNSCC(31;0.082)			6	39					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	56995987	56995987	+	Silent	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:56995987C>A	ENST00000200676.3	+	1	226	c.96C>A	c.(94-96)atC>atA	p.I32I	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.I32I	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	32					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGTGCCGCATCACCAAGCCTG	0.617000													45	28					2.68985e-26	2.98298e-26	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1265993	1265993	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:1265993G>T	ENST00000447027.1	+	31	7950	c.7892G>T	c.(7891-7893)cGc>cTc	p.R2631L	MUC5B_ENST00000529681.1_Missense_Mutation_p.R2628L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2628	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R2607L(1)|p.R2628L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCTTCCA	0.642000													4	78					0.00024832	0.000258791	1	1	0
RELN	5649	broad.mit.edu	37	7	103205858	103205858	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:103205858C>T	ENST00000424685.2	-	34	5236	c.5077G>A	c.(5077-5079)Gac>Aac	p.D1693N	RELN_ENST00000428762.1_Missense_Mutation_p.D1693N|RELN_ENST00000343529.5_Missense_Mutation_p.D1693N			P78509	RELN_HUMAN	reelin	1693					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGATGCCAGTCCTTGCCATTG	0.463000													6	31					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661152	102661152	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:102661152C>T	ENST00000315274.6	-	10	1468	c.1401G>A	c.(1399-1401)agG>agA	p.R467R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	467					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTCAATTTTTCCTGCAGTTGA	0.333000													4	30					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021535	68021535	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:68021535G>A	ENST00000412757.2	-	12	2000	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	DPEP2_ENST00000572888.1_Silent_p.L445L|DPEP2_ENST00000393847.1_Silent_p.L445L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	445					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GAATCTCAGTGAGTTCCTGGC	0.577000													14	149					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499670	125499670	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:125499670G>A	ENST00000303545.3	+	2	2152	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	594					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CATCGAAGATGATATCAAGGA	0.388000													10	42					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767782	77767782	+	Silent	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:77767782C>T	ENST00000521891.2	+	10	9073	c.8625C>T	c.(8623-8625)ttC>ttT	p.F2875F	ZFHX4_ENST00000050961.6_Silent_p.F2830F|ZFHX4_ENST00000518282.1_Silent_p.F2849F|ZFHX4_ENST00000455469.2_Silent_p.F2830F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2830						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)			CCATCCATTTCAATGACAAAG	0.507000										HNSCC(33;0.089)			64	10					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239013	3239013	+	Silent	SNP	A	A	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chrX:3239013A>G	ENST00000217939.6	-	5	4867	c.4713T>C	c.(4711-4713)tcT>tcC	p.S1571S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1571						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGCTTTGTAGACAAGTTAA	0.453000													32	24					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99819313	99819313	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:99819313G>C	ENST00000254759.3	-	6	904	c.880C>G	c.(880-882)Ctg>Gtg	p.L294V	COQ3_ENST00000369242.1_Missense_Mutation_p.L66V|COQ3_ENST00000369240.1_Missense_Mutation_p.L66V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	294					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CTTGATTCCAGAATGCTCTCT	0.358000													8	27					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346674	131346674	+	Silent	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:131346674C>G	ENST00000372739.3	+	17	2417	c.2307C>G	c.(2305-2307)ctC>ctG	p.L769L	SPTAN1_ENST00000358161.5_Silent_p.L769L|SPTAN1_ENST00000372731.4_Silent_p.L769L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	769					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGAGGCACTCAAGGAGCCCA	0.552000													14	25					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4259775	4259775	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:4259775G>A	ENST00000404826.2	+	39	5713	c.5574G>A	c.(5572-5574)ggG>ggA	p.G1858G	SDK1_ENST00000389531.3_Silent_p.G1838G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1858	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGTGAGAGGGAACTGGCAGC	0.602000													16	74					0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													3	34					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													5	141					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93301834	93301834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:93301834C>T	ENST00000370321.3	+	5	502	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	138					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTGATGGTCAGCCAGGTGC	0.478000													34	81					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636197	83636197	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:83636197G>C	ENST00000566620.1	+	8	1389	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CDH13_ENST00000268613.10_Missense_Mutation_p.E414Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E328Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	367	Cadherin 3.		E -> Q (in a patient with amyotrophic lateral sclerosis).		adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.E367Q(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACCAAGAAAGAGGTAAACCC	0.473000													31	191					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	30					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130694280	130694280	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:130694280G>C	ENST00000510168.1	+	18	2068	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	ATP2C1_ENST00000393221.4_Missense_Mutation_p.Q540H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.Q451H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.Q506H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.Q506H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.Q506H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.Q501H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.Q506H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.Q490H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.Q506H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	506					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTCAGCAGCAGAGAGATGTGT	0.478000									Hailey-Hailey disease				6	51					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185362	5185362	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:5185362C>T	ENST00000381641.3	-	1	306	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	81						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGCGGGCTTTCGAACTGGTAT	0.532000													41	78					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39341002	39341002	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:39341002G>A	ENST00000398472.1	-	1	592	c.105C>T	c.(103-105)tgC>tgT	p.C35C				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	35	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCTGGGGCAGCAACAGGTGG	0.612000													3	32					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77936237	77936237	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:77936237C>G	ENST00000361507.4	-	5	1304	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	GAB2_ENST00000340149.2_Missense_Mutation_p.E369Q	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	407					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCGTAGGTCTCACAGGAAGAA	0.507000													9	18					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23481580	23481580	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:23481580G>C	ENST00000376504.3	+	1	325	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	41					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGACGGCGATGAGCTGCTGGC	0.662000													3	34					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:1265999T>C	ENST00000447027.1	+	31	7956	c.7898T>C	c.(7897-7899)cTt>cCt	p.L2633P	MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637000													4	68					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992974	72992974	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr16:72992974G>A	ENST00000268489.5	-	2	1743	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	357					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGCCTATGAGGTTAGCTG	0.507000													16	100					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75070275	75070275	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:75070275C>T	ENST00000453279.2	-	5	1048	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	POM121C_ENST00000257665.5_Missense_Mutation_p.E304K	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	304	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGGTCTTCTTCCTCCACTGTC	0.478000													33	192					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	35					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329868	137329868	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:137329868C>T	ENST00000367748.1	-	4	845	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	IL20RA_ENST00000316649.5_Missense_Mutation_p.V198M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V149M|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	198	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGGTTGGTCACACACTGGGAC	0.547000													14	43					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598759	62598759	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr4:62598759A>T	ENST00000512091.2	+	7	1429	c.682A>T	c.(682-684)Ata>Tta	p.I228L	LPHN3_ENST00000507164.1_Missense_Mutation_p.I296L|LPHN3_ENST00000506720.1_Missense_Mutation_p.I296L|LPHN3_ENST00000507625.1_Missense_Mutation_p.I296L|LPHN3_ENST00000514591.1_Missense_Mutation_p.I228L|LPHN3_ENST00000506746.1_Missense_Mutation_p.I296L|LPHN3_ENST00000511324.1_Missense_Mutation_p.I296L|LPHN3_ENST00000508946.1_Missense_Mutation_p.I228L|LPHN3_ENST00000514157.1_Missense_Mutation_p.I228L|LPHN3_ENST00000506700.1_Missense_Mutation_p.I228L|LPHN3_ENST00000504896.1_Missense_Mutation_p.I228L|LPHN3_ENST00000508693.1_Missense_Mutation_p.I296L|LPHN3_ENST00000545650.1_Missense_Mutation_p.I228L|LPHN3_ENST00000509896.1_Missense_Mutation_p.I296L|LPHN3_ENST00000514996.1_Missense_Mutation_p.I228L			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACCAGGAACATAGTAAAGTT	0.458000													11	19					0	0	1	0	0
FAM133B	257415	broad.mit.edu	37	7	92208648	92208648	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:92208648C>T	ENST00000438306.1	-	4	384	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	FAM133B_ENST00000427372.1_Missense_Mutation_p.E52K|FAM133B_ENST00000445716.1_Missense_Mutation_p.E62K	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	62	Lys-rich.									endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTTTTCTTCAAATTCAGCC	0.328000													4	18					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774619	66774619	+	RNA	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr7:66774619C>T	ENST00000416602.2	+	0	636					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TATCAATCAGCGTCAGTATGA	0.493000													42	89					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68115374	68115374	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:68115374C>A	ENST00000262215.3	-	36	5461	c.5072G>T	c.(5071-5073)aGa>aTa	p.R1691I	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1145I|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R529I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1691					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTTGCAAATCTATGTGACTC	0.408000													5	59					0.184627	0.184627	1	1	0
ANPEP	290	broad.mit.edu	37	15	90349663	90349663	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:90349663G>A	ENST00000300060.6	-	2	465	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	51	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGAGGCGGACGGGGTGGTGGA	0.622000													26	55					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135270	33135270	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:33135270G>A	ENST00000341947.2	-	56	4282	c.4055C>T	c.(4054-4056)cCg>cTg	p.P1352L	COL11A2_ENST00000374713.1_Missense_Mutation_p.P1305L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1266L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1292L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1331L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1271L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1245L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1326L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1352	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGACCCACCGGGCCTGTCTT	0.652000													4	17					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67794066	67794066	+	Splice_Site	SNP	A	A	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:67794066A>C	ENST00000262345.1	+	5	1303	c.663A>C	c.(661-663)atA>atC	p.I221I	IL12RB2_ENST00000544434.1_Splice_Site_p.I221I|IL12RB2_ENST00000371000.1_Splice_Site_p.I221I|IL12RB2_ENST00000541374.1_Splice_Site_p.I221I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	221					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTTGGACATAGGTACATTTT	0.348000													27	108					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138376009	138376009	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr2:138376009G>A	ENST00000409968.1	+	19	3791	c.3613G>A	c.(3613-3615)Gtc>Atc	p.V1205I	THSD7B_ENST00000413152.2_Missense_Mutation_p.V1177I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1208I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGTCAAGGCGTCAGGACCCG	0.502000													4	6					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43287216	43287216	+	Splice_Site	SNP	A	A	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:43287216A>C	ENST00000374518.5	+	6	841	c.778A>C	c.(778-780)Agg>Cgg	p.R260R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTGGCAGACAGGTAAAATAT	0.363000													26	102					0	0	1	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159578	242159578	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:242159578C>T	ENST00000357246.3	-	4	395	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	111					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGCCATCCTCATCCTTGTAG	0.567000													20	96					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431835	47431835	+	Missense_Mutation	SNP	C	C	T	rs143199010		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr11:47431835C>T	ENST00000524928.1	+	1	200	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	SLC39A13_ENST00000533076.1_Missense_Mutation_p.R64W|SLC39A13_ENST00000531974.1_Missense_Mutation_p.R64W|SLC39A13_ENST00000362021.4_Missense_Mutation_p.R64W|SLC39A13_ENST00000354884.4_Missense_Mutation_p.R64W			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	64					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GAGCGGAGAGCGGCTGGACAC	0.662000													11	19					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165709	172165709	+	Silent	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:172165709G>A	ENST00000241256.2	-	1	537	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GHSR_ENST00000427970.1_Silent_p.F165F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	165					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCCAGATGACGAAGATGACCA	0.647000													4	42					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499332	125499332	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr8:125499332G>C	ENST00000303545.3	+	2	1814	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	481					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAATGTTTGGAAATGGGGCT	0.363000													35	108					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395053	139395053	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr9:139395053C>T	ENST00000277541.6	-	31	5960	c.5885G>A	c.(5884-5886)cGc>cAc	p.R1962H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1962					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGGGTGCGGCCCATGTT	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	169					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2218989	2218989	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:2218989A>T	ENST00000344595.5	+	2	453	c.135A>T	c.(133-135)aaA>aaT	p.K45N	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	45					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTTCTTCAAATGTGAACTCT	0.368000													23	54					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6692964	6692964	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:6692964C>A	ENST00000245907.6	-	26	3453	c.3361G>T	c.(3361-3363)Gat>Tat	p.D1121Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1121					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACGGGCGCATCCTCCTGGAAG	0.552000													39	109					9.8876e-21	1.08953e-20	1	1	0
CIC	23152	broad.mit.edu	37	19	42797368	42797368	+	Silent	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:42797368C>A	ENST00000572681.2	+	16	6519	c.6451C>A	c.(6451-6453)Cgg>Agg	p.R2151R	CIC_ENST00000575354.2_Silent_p.R1244R|CIC_ENST00000160740.3_Silent_p.R1242R			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCCACGGCCCGGAGCAGCCC	0.711000			"""Mis, F, S"""		oligodendroglioma								3	8					0.115264	0.115934	1	1	0
LTN1	26046	broad.mit.edu	37	21	30329695	30329695	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr21:30329695C>T	ENST00000389194.2	-	15	2994	c.2989G>A	c.(2989-2991)Gac>Aac	p.D997N	LTN1_ENST00000361371.5_Missense_Mutation_p.D951N	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	951							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CATTCACTGTCGTTCGGCATT	0.383000													11	54					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559800	54559800	+	Silent	SNP	C	C	T	rs146193202	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:54559800C>T	ENST00000566473.2	+	17	2184	c.2184C>T	c.(2182-2184)gaC>gaT	p.D728D	ANKFN1_ENST00000318698.2_Silent_p.D728D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	728										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTGCCTCAGACGACGTCTGTA	0.512000													15	79					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	33					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47565695	47565695	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr4:47565695C>A	ENST00000273859.3	+	15	3035	c.2766C>A	c.(2764-2766)gaC>gaA	p.D922E		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	922					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACAGGGGACAAGCAGGAGA	0.468000													14	47					4.7546e-09	5.0463e-09	1	1	0
TNR	7143	broad.mit.edu	37	1	175335228	175335228	+	Silent	SNP	G	G	C			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr1:175335228G>C	ENST00000367674.2	-	11	2808	c.2100C>G	c.(2098-2100)acC>acG	p.T700T	TNR_ENST00000263525.2_Silent_p.T700T			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGAGATGGAGGTCTCCGAGG	0.532000													29	23					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20533674	20533674	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr4:20533674C>T	ENST00000504154.1	+	17	1933	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C	SLIT2_ENST00000503823.1_Missense_Mutation_p.R553C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R557C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R565C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	561					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCCTCAATTACGTAAAATGTA	0.289000													8	33					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647617	19647617	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr21:19647617G>A	ENST00000284885.3	-	24	2834	c.2801C>T	c.(2800-2802)cCt>cTt	p.P934L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	934	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGATAGAAGAGGAACATCAGC	0.398000													13	59					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982694	75982694	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:75982694G>A	ENST00000308508.5	-	3	804	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	238	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGCCAAGGGTGCCTGCCGG	0.642000													4	13					0	0	1	0	0
CTD-2026G6.3	0	broad.mit.edu	37	3	75599221	75599223	+	RNA	DEL	CCA	CCA	-	rs111816620		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr3:75599221_75599223delCCA	ENST00000608389.1	-	0	22																											TACCATTTTCccaccaccaccac	0.424													7	5	---	---	---	---					
DCLK2	166614	broad.mit.edu	37	4	151119187	151119187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr4:151119187delC	ENST00000296550.7	+	4	1647	c.893delC	c.(892-894)tccfs	p.S299fs	DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Frame_Shift_Del_p.S299fs|DCLK2_ENST00000302176.8_Frame_Shift_Del_p.S299fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	299	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TATTCTCGATCCTCAGCTGTT	0.408													13	43	---	---	---	---					
GJA1	2697	broad.mit.edu	37	6	121768878	121768880	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:121768878_121768880delTTC	ENST00000282561.3	+	2	1042_1044	c.885_887delTTC	c.(883-888)aattct>aat	p.S297del		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	297					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACAGAAACAATTCTTCTTGCCGC	0.483													9	46	---	---	---	---					
PPIL4	85313	broad.mit.edu	37	6	149854626	149854626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr6:149854626delC	ENST00000253329.2	-	7	678	c.646delG	c.(646-648)gagfs	p.E216fs		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	216					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GTTTTAGCCTCTTTTTCTGCC	0.328													8	29	---	---	---	---					
CACNB2	783	broad.mit.edu	37	10	18429702	18429704	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr10:18429702_18429704delGCG	ENST00000324631.7	+	1	97_99	c.37_39delGCG	c.(37-39)gcgdel	p.A16del	CACNB2_ENST00000377328.1_In_Frame_Del_p.A16del|CACNB2_ENST00000352115.6_In_Frame_Del_p.A16del	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	16					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCCTCCCACAGCGGCGGCGGCGG	0.714													2	4	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203645	90203645	+	RNA	DEL	T	T	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr14:90203645delT	ENST00000555070.1	-	0	170																											CCCAGAATCCTTTTATTTCTT	0.348													2	4	---	---	---	---					
INO80	54617	broad.mit.edu	37	15	41366661	41366661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:41366661delC	ENST00000361937.3	-	10	1658	c.1234delG	c.(1234-1236)gaafs	p.E413fs	INO80_ENST00000401393.3_Frame_Shift_Del_p.E413fs			Q9ULG1	INO80_HUMAN	INO80 complex subunit	413	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGGATTTCTTCCTGGATACCA	0.438													20	54	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
SLC16A3	9123	broad.mit.edu	37	17	80195095	80195117	+	Frame_Shift_Del	DEL	GGCTGGCGGCAGCAGGTAGCCCT	GGCTGGCGGCAGCAGGTAGCCCT	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr17:80195095_80195117delGGCTGGCGGCAGCAGGTAGCCCT	ENST00000581287.1	+	3	2771_2793	c.449_471delGGCTGGCGGCAGCAGGTAGCCCT	c.(448-471)gggctggcggcagcaggtagccctfs	p.GLAAAGSP150fs	SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.GLAAAGSP150fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.GLAAAGSP150fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.GLAAAGSP150fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	150					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	ATGGCCAACGGGCTGGCGGCAGCAGGTAGCCCTGTCTTCCTGT	0.655													4	3	---	---	---	---					
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749													3	3	---	---	---	---					
PRR22	163154	broad.mit.edu	37	19	5783022	5783022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMY-01A-11D-A42E-08	TCGA-XF-AAMY-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f33976-2abc-4fb4-921a-281f497943b1	4b896c32-db29-4e98-b03a-ffbf603a7a35	g.chr19:5783022delC	ENST00000419421.2	-	3	1340	c.1236delG	c.(1234-1236)gggfs	p.G412fs		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	410										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTCCCTGGGCCCCGGGGGAG	0.657													2	4	---	---	---	---					
