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
ZNF253	56242	broad.mit.edu	37	19	19990917	19990917	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:19990917T>C	ENST00000589717.1	+	3	280	c.188T>C	c.(187-189)tTa>tCa	p.L63S	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	63	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAAAACCTTTAACTATGGAA	0.378000													20	63					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414490	138414490	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:138414490G>A	ENST00000409968.1	+	23	4408	c.4230G>A	c.(4228-4230)gaG>gaA	p.E1410E	THSD7B_ENST00000272643.3_Silent_p.E1413E|THSD7B_ENST00000413152.2_Silent_p.E1382E|THSD7B_ENST00000543459.1_Intron					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)		AGTCTTTTGAGAACCAAGACA	0.443000													96	107					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911716	54911716	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:54911716C>T	ENST00000293373.6	+	13	1411	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	NCKAP1L_ENST00000545638.2_Silent_p.I394I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	444					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCAGTGACATCATTCAGGTAT	0.403000													23	75					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10224802	10224802	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:10224802G>A	ENST00000556468.1	+	13	1800	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.K591K|P2RY11_ENST00000321826.4_Silent_p.K171K					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCACCTGAAGAGGCCGCAGC	0.706000													19	20					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57714210	57714210	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:57714210C>T	ENST00000333493.4	+	7	862	c.701C>T	c.(700-702)tCc>tTc	p.S234F	GPR97_ENST00000327655.6_Missense_Mutation_p.S24F|GPR97_ENST00000450388.3_Missense_Mutation_p.S114F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	234	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGGGCTGCTCCACGGAGGTC	0.622000													5	25					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984863	130984863	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:130984863C>T	ENST00000341179.7	+	8	1208	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	DNM1_ENST00000486160.1_Silent_p.F372F|DNM1_ENST00000475805.1_Silent_p.F372F|DNM1_ENST00000393594.3_Silent_p.F372F|DNM1_ENST00000372923.3_Silent_p.F372F	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	372					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTTCCCTTTCGAGCTGGTCA	0.587000													43	36					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731519	141731519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:141731519C>T	ENST00000475668.2	+	13	1564	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	MGAM_ENST00000549489.2_Missense_Mutation_p.P504S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	504	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATACCAATCCCAACTGTGC	0.358000													95	80					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345086	5345086	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:5345086G>A	ENST00000328813.2	-	1	496	c.442C>T	c.(442-444)Cta>Tta	p.L148L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACCCCTTAGAAACACTCCC	0.413000													87	37					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947448	165947448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:165947448C>T	ENST00000360093.3	-	28	5706	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G1739R|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1690R|SCN3A_ENST00000540861.1_Missense_Mutation_p.G222R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1739						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1739R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCACAGTCTCCCTTAACTGAG	0.483000													23	233					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775248	113775248	+	Silent	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:113775248C>G	ENST00000295878.3	-	1	212	c.66G>C	c.(64-66)cgG>cgC	p.R22R	KIAA1407_ENST00000480588.1_5'UTR|KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	22										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCTTGTGAACCGTTTCCAGC	0.602000													48	79					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151016157	151016157	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:151016157C>T	ENST00000295294.7	+	7	1168	c.559C>T	c.(559-561)Cca>Tca	p.P187S	BNIPL_ENST00000368931.3_Missense_Mutation_p.P269S	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	269					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCCAAGTTCCACCTCTAAG	0.502000													28	108					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12433880	12433880	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:12433880A>G	ENST00000358136.3	+	55	11014	c.10884A>G	c.(10882-10884)tcA>tcG	p.S3628S	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.S3603S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3627					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGATGTCTCACCCAAGACAC	0.423000													31	22					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62500112	62500112	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:62500112T>C	ENST00000225792.5	-	4	831	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Missense_Mutation_p.K144E	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	144	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GACAATGTTTTCCCAGATCCA	0.388000			T	ETV4	prostate								107	234					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601643	24601643	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24601643G>A	ENST00000267426.5	+	2	779	c.490G>A	c.(490-492)Gag>Aag	p.E164K	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	164					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGCTCCACGAGCTGCCTGA	0.687000													24	22					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160771659	160771659	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:160771659C>T	ENST00000368039.2	+	3	535	c.534C>T	c.(532-534)tcC>tcT	p.S178S	LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTGGAGTCCATCATCAGCA	0.622000													36	161					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358905	69358905	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:69358905C>T	ENST00000193403.6	-	10	1334	c.951G>A	c.(949-951)cgG>cgA	p.R317R	ACTN1_ENST00000438964.2_Silent_p.R317R|ACTN1_ENST00000376839.3_Silent_p.R252R|ACTN1_ENST00000538545.2_Silent_p.R317R|ACTN1_ENST00000394419.4_Silent_p.R317R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	317	Interaction with DDN.			R -> L (in Ref. 8; CAA38970).	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCGGTAGTCCCGGAAGTCCT	0.622000													11	54					0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085492	73085492	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:73085492C>T	ENST00000324941.4	+	4	676	c.542C>T	c.(541-543)cCg>cTg	p.P181L	VPS37D_ENST00000451519.1_Missense_Mutation_p.P96L	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	181	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTGCCCAGCCGGCCCCCACC	0.741000													8	5					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058575	69058575	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:69058575C>T	ENST00000288368.4	+	34	4496	c.4219C>T	c.(4219-4221)Ctt>Ttt	p.L1407F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1407					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCATCCTGTTCTTTTTGCACA	0.318000													19	58					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36006465	36006465	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:36006465G>A	ENST00000540320.1	+	39	6773	c.6239G>A	c.(6238-6240)cGa>cAa	p.R2080Q	NBEA_ENST00000400445.3_Missense_Mutation_p.R2080Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R2077Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R2080Q			Q8NFP9	NBEA_HUMAN	neurobeachin	2080						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGAAGGAGACGATTTGTTCGC	0.393000													8	6					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702385	43702385	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:43702385G>A	ENST00000405312.3	-	3	710	c.473C>T	c.(472-474)cCc>cTc	p.P158L	PSG4_ENST00000244295.9_Missense_Mutation_p.P158L|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	158	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGCCTCCCTGGGATTTAAGTT	0.537000													127	83					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2940655	2940655	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:2940655G>A	ENST00000261596.4	-	5	884	c.646C>T	c.(646-648)Cat>Tat	p.H216Y		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	216					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCCCCAGAATGGAAGAGCAAA	0.408000													29	38					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807842	8807842	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:8807842C>T	ENST00000324436.3	-	1	1330	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	404						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGTTCCTCGTACTGCTCC	0.637000													17	41					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348001	38348001	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38348001C>T	ENST00000273173.4	+	1	575	c.484C>T	c.(484-486)Cct>Tct	p.P162S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P162S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	162						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGGATCTATCCTGACGCTAA	0.493000													28	71					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139787	142139787	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:142139787G>A	ENST00000390374.3	-	0	28																											GTCAGGCCAGGATGAGGGCTT	0.532000													17	76					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442296	234442296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234442296G>A	ENST00000251722.6	-	11	1414	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	USP40_ENST00000450966.1_Missense_Mutation_p.P445S|USP40_ENST00000427112.2_Missense_Mutation_p.P433S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	433					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GATTCTGGAGGAAGCATCTTG	0.408000													44	33					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:62518605G>A	ENST00000383710.4	-	13	2581	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	CADPS_ENST00000283269.9_Silent_p.I744I|CADPS_ENST00000357948.3_Silent_p.I727I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	744					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I744I(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517000													37	31					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													22	662					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957434	35957434	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:35957434C>T	ENST00000274278.3	-	5	1288	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E311K|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E277K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	311						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAGGACTTCCTGGGACTGA	0.502000													23	20					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523835	95523835	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:95523835G>A	ENST00000297591.5	-	13	3043	c.2968C>T	c.(2968-2970)Cat>Tat	p.H990Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.H990Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H990Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	990					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)			ATGTTGACATGGAGCCTCCAA	0.433000													55	58					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161332139	161332139	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:161332139C>T	ENST00000342751.4	+	5	287	c.262C>T	c.(262-264)Cct>Tct	p.P88S	SDHC_ENST00000367975.2_Silent_p.G142G|SDHC_ENST00000392169.2_Silent_p.G89G|SDHC_ENST00000513009.1_Missense_Mutation_p.P54S|SDHC_ENST00000432287.2_Silent_p.G108G|SDHC_ENST00000470743.2_3'UTR	NM_001035511.1	NP_001030588.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TAGGAAAAGGCCTGAAGATTC	0.443000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				17	21					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102256031	102256031	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:102256031G>A	ENST00000370345.3	-	18	2391	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	765					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAGTCCCTGGGTAGAAAGCT	0.552000													16	30					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000													22	93					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372427	57372427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:57372427C>T	ENST00000361249.3	+	8	1280	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	395	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGGTTTATCAGGAGACCAT	0.423000													149	70					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117853250	117853250	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:117853250C>T	ENST00000439649.3	-	7	1330	c.963G>A	c.(961-963)ttG>ttA	p.L321L	GFRA1_ENST00000355422.6_Silent_p.L326L|GFRA1_ENST00000369236.1_Silent_p.L321L|GFRA1_ENST00000544592.1_Silent_p.L205L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	326					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TCAAAAATTTCAAGCACTCTT	0.443000													20	35					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7016539	7016539	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:7016539A>C	ENST00000389658.3	-	21	3033	c.2940T>G	c.(2938-2940)tgT>tgG	p.C980W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	980	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACACCTGTCACACCTTTTCC	0.562000													37	46					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707266	54707266	+	Splice_Site	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:54707266G>T	ENST00000545554.1	+	18	4933		c.e18+1		UNC13C_ENST00000260323.11_Splice_Site|UNC13C_ENST00000537900.1_Splice_Site			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCATTAGAAGGTAATTATAAA	0.308000													4	44					0.150653	0.150653	1	1	0
RFX6	222546	broad.mit.edu	37	6	117252524	117252524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:117252524C>T	ENST00000332958.2	+	19	2658	c.2642C>T	c.(2641-2643)tCc>tTc	p.S881F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	881					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATTCCTTCTTCCTCATCCCAA	0.408000													25	124					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237666761	237666761	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:237666761C>G	ENST00000366574.2	+	22	2886	c.2569C>G	c.(2569-2571)Ctg>Gtg	p.L857V	RYR2_ENST00000360064.6_Missense_Mutation_p.L855V|RYR2_ENST00000542537.1_Missense_Mutation_p.L841V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	857	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L855V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACAGTTTCCCTGACGCAAGC	0.507000													53	39					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712782	128712782	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:128712782G>A	ENST00000357702.5	-	16	2409	c.2278C>T	c.(2278-2280)Cca>Tca	p.P760S	SAP130_ENST00000259235.3_Missense_Mutation_p.P725S|SAP130_ENST00000259234.6_Missense_Mutation_p.P733S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	725	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCATAGTTGGAATGGTCGGT	0.562000													46	55					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52555344	52555344	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:52555344A>T	ENST00000262094.5	+	5	983	c.462A>T	c.(460-462)aaA>aaT	p.K154N	RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGCTGACAAATATGGGTAAG	0.423000													65	82					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	C	T	rs139022158	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48920047C>T	ENST00000310194.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000													24	74					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408955	52408955	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:52408955C>T	ENST00000293662.4	+	8	1240	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.S244F|GRASP_ENST00000380039.2_Missense_Mutation_p.S244F	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	387						cell junction|perinuclear region of cytoplasm|postsynaptic membrane		p.S387F(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTCAACCGCTCCCTGGAGGAG	0.642000													4	5					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481315	228481315	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:228481315G>A	ENST00000570156.2	+	46	12490	c.12416G>A	c.(12415-12417)aGg>aAg	p.R4139K	OBSCN_ENST00000366709.4_Missense_Mutation_p.R829K|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3710K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2557K|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3710K|OBSCN_ENST00000366707.4_Missense_Mutation_p.R829K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3181	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCACCGTCAGGGGTAAAGGC	0.612000													14	37					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520079	63520079	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:63520079C>G	ENST00000377819.5	+	5	2993	c.2839C>G	c.(2839-2841)Cgt>Ggt	p.R947G	RTN3_ENST00000339997.4_Missense_Mutation_p.R928G|RTN3_ENST00000537981.1_Missense_Mutation_p.R151G|RTN3_ENST00000540798.1_Missense_Mutation_p.R835G|RTN3_ENST00000341307.2_Missense_Mutation_p.R151G|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Missense_Mutation_p.R170G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	947	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTCATTATTCGTCTCTTTCT	0.438000													118	50					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17491664	17491664	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:17491664G>A	ENST00000302539.4	-	3	521	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ABCC8_ENST00000389817.3_Silent_p.F132F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	132			F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGCTTGGGGAAGTTGGAAG	0.507000													32	10					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48369378	48369378	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48369378C>T	ENST00000380518.3	-	51	3772	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1134E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1203	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCAGGATTTCCAGGAGGACC	0.602000													6	16					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998784	33998784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:33998784C>T	ENST00000373381.4	-	64	10213	c.10037G>A	c.(10036-10038)gGg>gAg	p.G3346E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3202						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCCAGGGCCCCGACGTTGGC	0.632000													20	15					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33438598	33438598	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:33438598C>A	ENST00000283629.3	-	12	1739	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y	UBP1_ENST00000283628.5_Missense_Mutation_p.D404Y|UBP1_ENST00000447368.2_Missense_Mutation_p.D368Y|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	404					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAACTAAATCCTCCTTTGTC	0.353000													20	42					8.34094e-07	8.39926e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179444752	179444752	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179444752C>T	ENST00000589042.1	-	318	67486	c.67262G>A	c.(67261-67263)gGa>gAa	p.G22421E	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13481E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13356E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548E|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20780	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGATTTTCCCTCCTCCAA	0.443000													95	93					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57503880	57503880	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:57503880C>T	ENST00000219252.5	+	7	785	c.447C>T	c.(445-447)ctC>ctT	p.L149L	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	149					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGACATCCTCATCGTCAAGT	0.542000													11	42					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51455845	51455845	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:51455845G>A	ENST00000336334.3	-	2	421	c.69C>T	c.(67-69)gtC>gtT	p.V23V	KLK5_ENST00000593428.1_Silent_p.V23V|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.V23V	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	23					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTACCTGTGACCCCCAGAA	0.617000													7	30					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82545171C>T	ENST00000423517.2	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q|PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACATAATTTCGTGGAGTATG	0.408000													38	119					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112130534	112130534	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:112130534C>T	ENST00000455480.2	+	2	198	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ACAD10_ENST00000549590.1_Silent_p.F7F|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Silent_p.F7F	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	7							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGAGCTGTTTCCAGTCCCCCC	0.617000													16	45					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10276209	10276209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:10276209G>T	ENST00000256458.4	+	11	1429	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	447	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGGGCGTGGAGAACGTGAT	0.612000													17	53					5.01169e-05	5.035e-05	1	1	0
GPC1	2817	broad.mit.edu	37	2	241401698	241401698	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:241401698G>A	ENST00000264039.2	+	3	664	c.416G>A	c.(415-417)aGg>aAg	p.R139K		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	139					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAGAACGCGAGGGCCTTCCGG	0.672000													4	10					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389943	77389943	+	Missense_Mutation	SNP	G	G	A	rs149929752		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:77389943G>A	ENST00000282849.5	-	9	1772	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P452S(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTCTGCAGGGATTCCCTTCT	0.428000													42	34					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20535283	20535283	+	Missense_Mutation	SNP	C	C	T	rs139887501		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20535283C>T	ENST00000504154.1	+	18	2029	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R597C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R585C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R589C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	593					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						TACGAGTAATCGTTTGGAAAA	0.353000													27	141					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96863862	96863862	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:96863862C>T	ENST00000375360.3	+	8	2206	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	PTPDC1_ENST00000288976.3_Silent_p.S674S|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	622							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGCTTAATTCCCGAGATGGAG	0.483000													18	53					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79785971	79785971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:79785971C>T	ENST00000372371.3	-	2	198	c.61G>A	c.(61-63)Gga>Aga	p.G21R		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	21					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GACTTCATTCCAAAACAGATG	0.453000													11	19					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542946	133542946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:133542946C>T	ENST00000409261.1	-	14	1811	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D480N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	480							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAAGGGTCATCGTCCGCATCA	0.517000													42	88					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011792	34011792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34011792G>A	ENST00000373381.4	-	57	9121	c.8945C>T	c.(8944-8946)cCt>cTt	p.P2982L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2955	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGATCCCAGGGTCACCGCA	0.557000													32	23					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943261	20943261	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20943261C>T	ENST00000361505.5	+	5	648	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	168					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TGCCTACGACCGGACTATGAG	0.502000													33	31					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459581	186459581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:186459581G>A	ENST00000265023.4	+	10	1608	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	466	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E466K(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCATGGACACGAACAACAGCA	0.463000													10	30					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581131	1581131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:1581131C>T	ENST00000421627.2	+	5	1623	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	576					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCGAGCCATTCAAGCCGGCTA	0.537000													11	31					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35819941	35819941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:35819941C>T	ENST00000423537.2	-	4	1068	c.799G>A	c.(799-801)Gat>Aat	p.D267N	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	267										endometrium(2)|kidney(1)|lung(4)	7						CTGGACTCATCCCCAATCCGG	0.493000													20	13					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188763	140188763	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140188763C>T	ENST00000530339.1	+	1	1991	c.1991C>T	c.(1990-1992)aCt>aTt	p.T664I	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T664I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T664I|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCCACTGTGCTGGTG	0.667000													24	77					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881312	69881312	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:69881312C>T	ENST00000358913.5	+	2	605	c.117C>T	c.(115-117)tcC>tcT	p.S39S	MYPN_ENST00000540630.1_Silent_p.S39S|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.S39S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	39	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCCTCCTCCAACCCTTGCC	0.512000													18	39					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362136	98362136	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:98362136A>C	ENST00000339364.5	-	16	2380	c.2261T>G	c.(2260-2262)gTt>gGt	p.V754G	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.V353G|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V576G	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	754						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTTCTGGTAACCTCAGGGAC	0.547000													8	32					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503275	140503275	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140503275G>A	ENST00000194152.1	+	1	1695	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		565					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGCTGCAGAATGGCTCCG	0.701000													54	32					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			213	118					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055976	154055976	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:154055976G>A	ENST00000389740.2	-	4	1807	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	570						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L570F(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGGTAGAAAGAGATAGGGTT	0.468000													84	99					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66364468	66364468	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:66364468G>A	ENST00000299608.2	-	8	881	c.565C>T	c.(565-567)Cct>Tct	p.P189S	TMX3_ENST00000562706.1_Missense_Mutation_p.P189S|TMX3_ENST00000443099.2_Missense_Mutation_p.P162S	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	189					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ATTACCTCAGGAACCACTTCT	0.249000													11	16					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866328	118866328	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:118866328A>G	ENST00000295622.1	+	1	1332	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.N36S	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	431										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCACCAGTAACTTCCAAGCA	0.443000													83	64					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54792317	54792317	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:54792317G>A	ENST00000545554.1	+	20	5101	c.5101G>A	c.(5101-5103)Gaa>Aaa	p.E1701K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1701K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1699K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1701	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGAAAACGAAGATGTGTC	0.348000													20	14					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827561	35827561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:35827561C>T	ENST00000237530.6	+	4	723	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RPN2_ENST00000373622.5_Missense_Mutation_p.P106S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	138					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTTTGGCCTTCCCTTGGCATC	0.517000													47	64					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705292	101705292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:101705292C>T	ENST00000305352.6	+	2	1127	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	251				KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905).	cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGAGAAGTCGCTGGCGCTG	0.582000													148	91					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627553	21627553	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:21627553G>A	ENST00000425654.2	+	19	2900	c.2420G>A	c.(2419-2421)gGa>gAa	p.G807E	CNKSR2_ENST00000379510.3_Missense_Mutation_p.G837E|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G837E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G788E	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	837					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGCTAAATGGAAATGGGGGC	0.532000													55	12					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436340	30436340	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:30436340G>A	ENST00000278979.3	-	10	831	c.755C>T	c.(754-756)tCg>tTg	p.S252L				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	252						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGCAGGACGAGCTCCCAGG	0.632000													9	12					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83447552	83447552	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:83447552C>T	ENST00000334574.8	-	6	1258	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	FSD2_ENST00000541889.1_Silent_p.V359V			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	359										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCTGCTCCACATCAGAGA	0.463000													15	15					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780157	91780157	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:91780157C>T	ENST00000389857.6	-	15	2089	c.2003G>A	c.(2002-2004)aGc>aAc	p.S668N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	668					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CAGGCCCTGGCTCTCATGCTC	0.622000													10	11					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48007430	48007430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:48007430G>A	ENST00000258774.5	-	7	756	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q224*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	245					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATTTACTTGTTGTCCAGCA	0.403000								Direct reversal of damage;Other conserved DNA damage response genes					85	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065265	9065265	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9065265G>A	ENST00000397910.4	-	3	22384	c.22181C>T	c.(22180-22182)tCc>tTc	p.S7394F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7396	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACAGCTGGGAAGATGGAGG	0.507000													4	41					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435715	158435715	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158435715C>T	ENST00000289451.2	+	1	444	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGCTATGATCGCTATATGGC	0.527000													222	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596940	179596940	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179596940C>T	ENST00000589042.1	-	57	16980	c.16756G>A	c.(16756-16758)Gag>Aag	p.E5586K	TTN_ENST00000591111.1_Missense_Mutation_p.E5269K|TTN_ENST00000342992.6_Missense_Mutation_p.E4342K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5269	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTGCTCTCCTTAATTTCT	0.433000													93	177					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67709357	67709357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:67709357G>A	ENST00000335894.4	+	15	2252	c.2186G>A	c.(2185-2187)tGg>tAg	p.W729*	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Nonsense_Mutation_p.W390*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.W465*|IQCH_ENST00000546225.1_Nonsense_Mutation_p.W386*	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	729										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCCCGACGTGGAGGAAATTC	0.453000													26	21					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78917469	78917469	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:78917469G>A	ENST00000412074.2	-	5	635	c.524C>T	c.(523-525)cCc>cTc	p.P175L	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACAACCCAGGGGGCCCTCAGT	0.602000													24	67					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275411	238275411	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:238275411C>T	ENST00000295550.4	-	11	5871	c.5419G>A	c.(5419-5421)Gaa>Aaa	p.E1807K	COL6A3_ENST00000353578.4_Missense_Mutation_p.E1601K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1607K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1200K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1606K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1601K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1807	Nonhelical region.|VWFA 9.				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)		TCGCTCAGTTCGGACAGCTCC	0.522000													61	131					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435170	10435170	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10435170G>A	ENST00000245503.5	-	22	2861	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S826F|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	826					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCATGAAGGATCTGATATT	0.433000													83	24					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944231	55944231	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:55944231C>T	ENST00000312298.1	+	1	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGGCATGATCCTCTTAATCC	0.428000													112	52					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604281	189604281	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:189604281A>G	ENST00000264731.3	+	11	1537	c.1448A>G	c.(1447-1449)aAc>aGc	p.N483S	TP63_ENST00000392461.3_Missense_Mutation_p.N389S|TP63_ENST00000320472.5_Missense_Mutation_p.N483S|TP63_ENST00000456148.1_Missense_Mutation_p.N385S|TP63_ENST00000392460.3_Missense_Mutation_p.N483S|TP63_ENST00000449992.1_Missense_Mutation_p.N304S|TP63_ENST00000354600.5_Missense_Mutation_p.N389S|TP63_ENST00000440651.2_Missense_Mutation_p.N479S|TP63_ENST00000392463.2_Missense_Mutation_p.N389S|TP63_ENST00000382063.4_Missense_Mutation_p.N398S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	483					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCTTATCAACCCTCAGCAG	0.498000										HNSCC(45;0.13)			30	53					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902328	23902328	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:23902328T>C	ENST00000355349.3	-	4	472	c.310A>G	c.(310-312)Aac>Gac	p.N104D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	104	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTTGAGGTTGTAGAGCACC	0.572000													25	26					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379522	48379522	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48379522G>A	ENST00000380518.3	-	25	1833	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P488S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	557	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGGGCTCCAGGAAGGCCAGGT	0.652000													12	14					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129120711	129120711	+	Silent	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129120711T>C	ENST00000326639.6	+	16	2332	c.2121T>C	c.(2119-2121)ttT>ttC	p.F707F	LARP1B_ENST00000264584.5_Silent_p.F648F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.F126F|LARP1B_ENST00000441387.1_Silent_p.F707F	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	707							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAAATGGCTTTACCCAACAAG	0.368000													9	60					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28602372	28602372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:28602372G>T	ENST00000434452.1	-	7	1026	c.872C>A	c.(871-873)tCa>tAa	p.S291*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.S291*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	291	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAGCCCAGGTGACCTTGGTGT	0.488000													42	48					2.26627e-22	2.32549e-22	1	1	0
DCST1	149095	broad.mit.edu	37	1	155015306	155015306	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:155015306G>A	ENST00000295542.1	+	9	1084	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	DCST1_ENST00000392480.1_Missense_Mutation_p.E330K|DCST1_ENST00000368419.2_Missense_Mutation_p.E330K|DCST1_ENST00000423025.2_Missense_Mutation_p.E305K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	330						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGGATGGGGAATTTTCAGC	0.547000													53	29					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939610	72939610	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:72939610G>A	ENST00000553530.1	+	9	774	c.567G>A	c.(565-567)agG>agA	p.R189R	RGS6_ENST00000355512.6_Silent_p.R189R|RGS6_ENST00000556437.1_Silent_p.R189R|RGS6_ENST00000555571.1_Silent_p.R189R|RGS6_ENST00000407322.4_Silent_p.R189R|RGS6_ENST00000434263.2_Silent_p.R120R|RGS6_ENST00000554782.1_Silent_p.R50R|RGS6_ENST00000553525.1_Silent_p.R189R|RGS6_ENST00000402788.2_Silent_p.R189R|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Silent_p.R189R|RGS6_ENST00000406236.4_Silent_p.R189R|RGS6_ENST00000343854.6_Silent_p.R189R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	189					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGACAGAAAGGAAAATTTTGG	0.398000													49	160					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453708	9453708	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9453708C>T	ENST00000393883.2	+	6	2229	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.T447T|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Silent_p.T527T|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.T591T	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GTGGGCAAACCTTTAGTAATT	0.408000													75	80					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090512	111090512	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:111090512C>T	ENST00000262839.2	-	6	2448	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	510					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATGCGTCCCAAAGAGATCT	0.438000													77	7					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45541995	45541995	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:45541995G>A	ENST00000415258.1	+	14	1825	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	LARS2_ENST00000414984.1_Missense_Mutation_p.E519K|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.E562K			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	562					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGGAGGGAAAGAACATGCCGT	0.388000													60	43					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:140631107G>A	ENST00000520439.1	-	2	582	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_ENST00000303015.1_Silent_p.I173I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	173						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGCCGCCCCGATGCACAGCG	0.562000													21	24					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80276127	80276127	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:80276127G>A	ENST00000435819.1	+	6	755	c.71G>A	c.(70-72)gGt>gAt	p.G24D	CD36_ENST00000538969.1_Missense_Mutation_p.G24D|CD36_ENST00000447544.2_Missense_Mutation_p.G24D|CD36_ENST00000394788.3_Missense_Mutation_p.G24D|CD36_ENST00000433696.2_Missense_Mutation_p.G24D|CD36_ENST00000534394.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.G24D|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.G24D|CD36_ENST00000544133.1_Missense_Mutation_p.G24D			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	24					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGTTTGGAGGTATTCTAATG	0.438000													67	119					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584960	82584960	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82584960A>T	ENST00000423517.2	-	5	5646	c.5309T>A	c.(5308-5310)aTt>aAt	p.I1770N	PCLO_ENST00000333891.8_Missense_Mutation_p.I1770N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1701					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATCTTCAATAGTAGGCAA	0.433000													72	167					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95994050	95994050	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95994050C>T	ENST00000260766.3	+	6	2829	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	PLCE1_ENST00000371385.3_Missense_Mutation_p.S424F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S424F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S732F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	732	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGGTACAATTCCCAAGAAGAA	0.532000													20	36					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939060	22939060	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:22939060G>A	ENST00000397104.3	-	8	3060	c.3061C>T	c.(3061-3063)Cat>Tat	p.H1021Y						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAAAGATGGTTAAAAGCT	0.368000													48	31					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947068	144947068	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:144947068G>A	ENST00000525985.1	-	2	425	c.354C>T	c.(352-354)gcC>gcT	p.A118A				P58107	EPIPL_HUMAN	epiplakin 1	118						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCGTAGTGGCACGCTCAG	0.677000													5	31					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965318	94965318	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:94965318G>A	ENST00000261226.4	-	4	1458	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R412C	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	443						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGTGGCAGCGACTCTTCATC	0.478000													66	54					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866410	108866410	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:108866410C>T	ENST00000332884.6	+	2	1050	c.775C>T	c.(775-777)Cta>Tta	p.L259L	CYP2U1_ENST00000508453.1_Silent_p.L50L|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	259					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GTCACGAGGCCTAGAAATCTG	0.408000													31	158					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100613823	100613823	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:100613823T>A	ENST00000370141.2	+	10	1197	c.1191T>A	c.(1189-1191)agT>agA	p.S397R		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		ATGATGATAGTGAAGAGCATG	0.413000													79	250					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927499	119927499	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:119927499A>G	ENST00000361035.4	+	5	706	c.423A>G	c.(421-423)caA>caG	p.Q141Q	HAO2_ENST00000325945.3_Silent_p.Q128Q	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	128	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATGGTTCCAACTCTATGTGC	0.488000													42	164					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068893	71068893	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:71068893G>A	ENST00000396094.2	+	10	879	c.831G>A	c.(829-831)agG>agA	p.R277R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	277					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ACAGCCTAAGGGAACCATAAG	0.333000													15	72					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6969552	6969552	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6969552C>T	ENST00000229268.8	+	11	1293	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	USP5_ENST00000389231.5_Missense_Mutation_p.P414L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	414					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGCATTGCCCCTCGGATGTTC	0.577000													19	62					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45668901	45668901	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:45668901C>T	ENST00000396659.3	-	2	525	c.186G>A	c.(184-186)aaG>aaA	p.K62K	GATM_ENST00000558336.1_Silent_p.K62K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	62					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CAGGGCAGTCCTTGGGCAGAG	0.572000													20	52					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685234	77685234	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:77685234G>A	ENST00000298351.4	+	3	222	c.78G>A	c.(76-78)cgG>cgA	p.R26R	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	26						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCAGTCTCGGAACACCGTCC	0.602000													4	15					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166824	140166824	+	Missense_Mutation	SNP	G	G	A	rs143010606		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140166824G>A	ENST00000504120.2	+	1	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E317K|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E317K	NM_018900.2	NP_061723.1												p.E317K(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATCCTACGAAATTCAAGT	0.353000													71	67					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1098701	1098701	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:1098701C>T	ENST00000441003.2	+	37	7098	c.7071C>T	c.(7069-7071)ttC>ttT	p.F2357F	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4719						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCGTGTTCGACAGCTGCT	0.647000													11	4					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173782551	173782551	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:173782551G>A	ENST00000264111.6	+	5	653	c.466G>A	c.(466-468)Gga>Aga	p.G156R	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G156R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G156R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G12R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	156					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTATATGGCAGGACTTCTGGC	0.353000													95	115					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361523	97361523	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:97361523G>A	ENST00000457909.1	+	0	3442							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCGTGGTGAAGGTGGTAGACA	0.622000													15	10					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802417	233802417	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:233802417C>T	ENST00000366621.3	+	2	600	c.432C>T	c.(430-432)ttC>ttT	p.F144F	KCNK1_ENST00000366620.1_Silent_p.F28F|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	144						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GCATTCCCTTCACCCTCCTGT	0.587000													67	32					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102247616	102247616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:102247616C>T	ENST00000369138.1	+	7	1535	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R349*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.R349*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R349*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R349*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R300*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	349					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCAGTGTAATCGACATAAACC	0.453000													21	74					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57798079	57798079	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:57798079C>T	ENST00000309042.7	+	4	3369	c.3055C>T	c.(3055-3057)Cta>Tta	p.L1019L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1019	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAAGTGACCTAAGTGACAA	0.478000													11	47					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79782082	79782082	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:79782082G>A	ENST00000372371.3	-	6	843	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	236					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAAGTAGAGGAACATCTTCA	0.423000													22	41					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564887	58564887	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:58564887G>A	ENST00000282326.1	+	6	942	c.695G>A	c.(694-696)gGg>gAg	p.G232E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	232					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGCAGAAGGGACTGTGATC	0.642000													35	22					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374515	180374515	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:180374515C>T	ENST00000231229.4	+	4	911	c.677C>T	c.(676-678)aCc>aTc	p.T226I	BTNL8_ENST00000508408.1_Missense_Mutation_p.T226I|BTNL8_ENST00000533815.2_Missense_Mutation_p.T42I|BTNL8_ENST00000511704.1_Missense_Mutation_p.T110I|BTNL8_ENST00000340184.4_Missense_Mutation_p.T226I|BTNL8_ENST00000400707.3_Missense_Mutation_p.T101I|BTNL8_ENST00000505126.1_Missense_Mutation_p.T19I	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	226						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTTCAGATACCTTTTTCGAG	0.403000													59	222					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174677	207174677	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:207174677G>A	ENST00000374423.3	+	5	5811	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1809							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGTCATAGAGGATAATCC	0.403000													40	38					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572827	53572827	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53572827C>T	ENST00000601421.1	-	3	1728	c.852G>A	c.(850-852)aaG>aaA	p.K284K	ZNF160_ENST00000418871.1_Silent_p.K320K|ZNF160_ENST00000599056.1_Silent_p.K320K|ZNF160_ENST00000429604.1_Silent_p.K320K			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	320					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GCCTGAAGACCTTGCCACACT	0.418000													38	117					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21512115	21512115	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:21512115G>A	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1																						TGTCAGACAGGAAAGATGGCA	0.502000													50	22					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932989	83932989	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:83932989G>A	ENST00000345382.2	-	4	1099	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	BNC1_ENST00000569704.1_Silent_p.S331S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	338					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGCCTCAGGGGATAACTGTG	0.458000													43	47					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922646	109922646	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:109922646G>A	ENST00000218054.4	-	11	1354	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	CHRDL1_ENST00000482160.1_Silent_p.L308L|CHRDL1_ENST00000394797.4_Silent_p.L386L|CHRDL1_ENST00000434224.1_Silent_p.L307L|CHRDL1_ENST00000444321.2_Silent_p.L387L|CHRDL1_ENST00000372042.1_Silent_p.L388L|CHRDL1_ENST00000372045.1_Silent_p.L380L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453000													46	11					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770868	53770868	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53770868C>T	ENST00000311170.4	-	1	104	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	17					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCAGGACTCCCACCACGGTCT	0.507000										HNSCC(26;0.072)			13	54					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572826	53572826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53572826C>T	ENST00000601421.1	-	3	1729	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	ZNF160_ENST00000418871.1_Missense_Mutation_p.V321I|ZNF160_ENST00000599056.1_Missense_Mutation_p.V321I|ZNF160_ENST00000429604.1_Missense_Mutation_p.V321I			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	321					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCCTGAAGACCTTGCCACAC	0.418000													39	115					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184853923	184853923	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:184853923T>C	ENST00000367511.3	-	5	638	c.445A>G	c.(445-447)Aag>Gag	p.K149E		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	149					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGTTCTCCTTCTCACTGGAG	0.458000													34	24					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13269302	13269302	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:13269302G>A	ENST00000262487.3	+	4	765	c.759G>A	c.(757-759)tcG>tcA	p.S253S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	253	TSP type-1.					extracellular region		p.C248fs*22(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAACAGAATCGAGGACCTGTG	0.517000													27	51					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083628	21083628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:21083628G>A	ENST00000255882.6	-	39	4741	c.4655C>T	c.(4654-4656)cCc>cTc	p.P1552L	PI4KA_ENST00000572273.1_Missense_Mutation_p.P1494L|PI4KA_ENST00000414196.3_Missense_Mutation_p.P304L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1494					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCTAGGTAGGGAGAGATGCT	0.632000													10	21					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307483	89307483	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:89307483C>T	ENST00000338104.6	+	4	454	c.402C>T	c.(400-402)acC>acT	p.T134T	TTC8_ENST00000345383.5_Silent_p.T134T|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Silent_p.T144T|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Silent_p.T134T			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	144					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CACCCAGAACCGCCTACACAG	0.522000													37	25					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267496	1267496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:1267496C>T	ENST00000447027.1	+	31	9453	c.9395C>T	c.(9394-9396)cCg>cTg	p.P3132L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P3129L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3129	17 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			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)		TCCTCCACTCCGGGGACGACC	0.667000													64	26					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747410	139747410	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:139747410G>A	ENST00000230993.6	+	16	2388	c.2353G>A	c.(2353-2355)Gct>Act	p.A785T	SLC4A9_ENST00000507527.1_Missense_Mutation_p.A785T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.A761T|SLC4A9_ENST00000506545.1_Missense_Mutation_p.A698T|SLC4A9_ENST00000432095.2_Missense_Mutation_p.A747T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	785	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCTGGCTCACATGGA	0.582000													12	13					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136500192	136500192	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:136500192G>A	ENST00000308191.6	+	10	1164	c.861G>A	c.(859-861)caG>caA	p.Q287Q	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	287	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TCAACAGGCAGAATGAATTTT	0.423000													66	71					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74605288	74605288	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:74605288G>A	ENST00000361874.3	-	2	435	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	DCTN1_ENST00000394003.3_Missense_Mutation_p.H40Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H23Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H23Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.H40Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	40					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCCTCGGTGGCCTTTTCCA	0.577000													41	48					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51937006	51937006	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:51937006C>T	ENST00000310914.5	-	2	165	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	35										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTACCTCTGCCTTTGACTCT	0.488000													69	225					0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078628	241078628	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:241078628C>T	ENST00000391989.2	-	5	459	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	OTOS_ENST00000319460.1_Missense_Mutation_p.G77R			Q8NHW6	OTOSP_HUMAN	otospiralin	77						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGCGTGCTCCCCAGGGGGAAG	0.647000													28	54					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050723	183050723	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:183050723G>A	ENST00000435564.1	-	13	1660	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	PDE1A_ENST00000346717.4_Missense_Mutation_p.S453F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S383F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S487F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S471F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S487F|PDE1A_ENST00000410103.1_Missense_Mutation_p.S487F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S471F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S487F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	487	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTAGTCTGGGGAATAGGACCC	0.463000													32	67					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432672	432672	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:432672G>A	ENST00000256509.2	+	22	3263	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	CHL1_ENST00000397491.2_Missense_Mutation_p.G858E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	858	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGTTGGATGGAAGAACACAT	0.353000													22	73					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325075	162325075	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:162325075G>A	ENST00000361897.5	+	7	1096	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E227K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	232					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGATGTCCTGGAATTCAGCCG	0.587000													39	123					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240458174	240458174	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:240458174C>T	ENST00000319653.9	+	8	4436	c.4206C>T	c.(4204-4206)ctC>ctT	p.L1402L	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1402	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCAAGCTCTCTATGAGAATG	0.363000													79	48					0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436232	2436232	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:2436232G>A	ENST00000469908.1	+	0	1487					NR_003574.1																						CTCTCCATCGGCATCGCCCTC	0.652000													26	33					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664182	43664182	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:43664182C>T	ENST00000319357.5	+	7	1165	c.986C>T	c.(985-987)cCt>cTt	p.P329L		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	329					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTCAAGAGCCTTCTTTCAGG	0.423000													50	95					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648189	15648189	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:15648189G>C	ENST00000269703.2	+	5	584	c.385G>C	c.(385-387)Gat>Cat	p.D129H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.D129H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	129						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCCCCAAGGATGACCTCTT	0.498000													42	31					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046361	7046361	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7046361C>T	ENST00000356654.4	+	5	2168	c.1931C>T	c.(1930-1932)cCg>cTg	p.P644L	ATN1_ENST00000396684.2_Missense_Mutation_p.P644L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	644					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AAGAGAGCCCCGTCCCCGGGG	0.672000													38	24					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239422	21239422	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:21239422G>A	ENST00000380222.2	-	1	556	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGATCTCATGATTTCTGCTC	0.393000													210	105					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156759009	156759009	+	Silent	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:156759009C>A	ENST00000275820.3	+	8	2094	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	693	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCACGTTCTCATGGATTGCT	0.418000													69	194					5.98616e-33	6.17189e-33	1	1	0
TRHR	7201	broad.mit.edu	37	8	110131453	110131453	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110131453C>T	ENST00000518632.1	+	3	1317	c.966C>T	c.(964-966)ctC>ctT	p.L322L	TRHR_ENST00000311762.2_Silent_p.L322L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	322						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTACAATCTCATGTCCCAGA	0.438000													85	224					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589783	17589783	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:17589783C>T	ENST00000319363.6	+	13	1807	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	558					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGGACAACTACCTGCGGAGCC	0.657000													6	9					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60998446	60998446	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:60998446G>A	ENST00000373880.4	+	4	841	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.E167K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	193										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TCAGCACAAAGAATATTTTGA	0.323000													21	54					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163956050	163956050	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:163956050C>T	ENST00000361752.3	+	4	990	c.439C>T	c.(439-441)Cta>Tta	p.L147L	QKI_ENST00000361195.2_Silent_p.L147L|QKI_ENST00000392127.2_Silent_p.L147L|QKI_ENST00000275262.7_Silent_p.L147L|QKI_ENST00000453779.2_Silent_p.L147L|QKI_ENST00000424802.3_Silent_p.L147L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	147	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTGGGAGCATCTAAATGAAGA	0.343000													40	51					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103008	55103008	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:55103008G>A	ENST00000491143.2	+	1	92	c.60G>A	c.(58-60)atG>atA	p.M20I		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	20					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTGCGCCATGAACCCGGAGC	0.741000													4	5					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67263784	67263784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:67263784C>T	ENST00000258201.4	-	21	3571	c.3324G>A	c.(3322-3324)atG>atA	p.M1108I	FHOD1_ENST00000567687.1_Missense_Mutation_p.M687I	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1108					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAGAAGGTCCATGATCTCAT	0.572000													18	74					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672651	62672651	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:62672651G>A	ENST00000498273.1	+	3	646	c.351G>A	c.(349-351)ggG>ggA	p.G117G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggatggtagggaaaatagaag	0.328000													39	184					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91389455	91389455	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:91389455G>A	ENST00000509176.1	+	5	1962	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	CCSER1_ENST00000333691.8_Missense_Mutation_p.M558I|CCSER1_ENST00000432775.2_Missense_Mutation_p.M558I	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TGGAACCAATGATAGAAATGA	0.383000													25	16					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657585	46657585	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:46657585A>T	ENST00000544460.1	+	1	1974	c.1720A>T	c.(1720-1722)Aat>Tat	p.N574Y	TDRD6_ENST00000316081.6_Missense_Mutation_p.N574Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	574	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGACCGAGGCAATTCGGAAAA	0.448000													47	120					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7240823	7240823	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:7240823C>T	ENST00000379938.2	+	11	4498	c.3961C>T	c.(3961-3963)Cat>Tat	p.H1321Y	RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.H1321Y	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272				P -> R (in Ref. 6; AAC25598/AAC26118).	multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTTGGATCCCATGATAGCAC	0.517000													24	26					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69640525	69640525	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:69640525G>A	ENST00000370598.1	+	4	1653	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	278					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCCCTCAGGAACAAGCTGA	0.338000													30	19					0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629386	6629386	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:6629386A>G	ENST00000396751.2	+	2	656	c.200A>G	c.(199-201)gAt>gGt	p.D67G	ILK_ENST00000537806.1_Intron|ILK_ENST00000528995.1_Missense_Mutation_p.D67G|ILK_ENST00000299421.4_Missense_Mutation_p.D67G|ILK_ENST00000420936.2_Missense_Mutation_p.D67G	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	67	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AACCGTGGGGATGACACCCCC	0.557000													32	7					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940986	185940986	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:185940986G>C	ENST00000338875.4	+	3	473	c.473G>C	c.(472-474)gGa>gCa	p.G158A	HELT_ENST00000515777.1_Missense_Mutation_p.G73A|HELT_ENST00000505610.1_Missense_Mutation_p.G73A	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	158							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTTCCCCGGGGAAGGGAAAAA	0.612000													4	18					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702164	33702164	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:33702164C>G	ENST00000253188.3	-	7	1129	c.983G>C	c.(982-984)gGa>gCa	p.G328A		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	328					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATTGATCCCTCCGAAGGTTGA	0.592000													31	19					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103289399	103289399	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:103289399A>G	ENST00000520539.1	-	45	6916	c.6310T>C	c.(6310-6312)Tat>Cat	p.Y2104H	UBR5_ENST00000220959.4_Missense_Mutation_p.Y2104H|UBR5_ENST00000521922.1_Missense_Mutation_p.Y2098H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2104					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGGCAGCATAAGACATTTTT	0.348000													39	46					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488092	24488092	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:24488092C>T	ENST00000264463.4	-	12	2554	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTTTTTTTCCTCAATGGCT	0.478000										HNSCC(23;0.051)			42	38					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45668900	45668900	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:45668900C>T	ENST00000396659.3	-	2	526	c.187G>A	c.(187-189)Gac>Aac	p.D63N	GATM_ENST00000558336.1_Missense_Mutation_p.D63N	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	63					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ACAGGGCAGTCCTTGGGCAGA	0.567000													20	54					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403895	182403895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:182403895C>T	ENST00000410087.3	-	12	1562	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	CERKL_ENST00000374970.2_Missense_Mutation_p.E419K|CERKL_ENST00000339098.5_Missense_Mutation_p.E514K|CERKL_ENST00000374969.2_Missense_Mutation_p.E375K|CERKL_ENST00000409440.3_Missense_Mutation_p.E470K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	514					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAAGCAGTTTCATCCTCCTCC	0.373000													67	122					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73952001	73952001	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73952001A>G	ENST00000537812.1	-	5	1100	c.452T>C	c.(451-453)gTt>gCt	p.V151A	ACOX1_ENST00000301608.4_Missense_Mutation_p.V189A|ACOX1_ENST00000293217.5_Missense_Mutation_p.V189A|ACOX1_ENST00000591857.1_5'UTR	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	189					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGGGCAAGAACTATTGCATG	0.408000													104	202					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21833026	21833026	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:21833026G>A	ENST00000216297.2	-	10	1531	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	398					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAGGGCATAGGTTTTCTCTTC	0.428000													40	43					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951758	176951758	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176951758G>A	ENST00000329540.5	-	9	3431	c.602C>T	c.(601-603)cCc>cTc	p.P201L	FAM193B_ENST00000443375.2_Missense_Mutation_p.P542L|FAM193B_ENST00000514747.1_Missense_Mutation_p.P575L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	251										kidney(1)|large_intestine(3)	4						GACGATACCGGGAGGGGGCCC	0.647000													6	7					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34359456	34359456	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:34359456C>T	ENST00000257209.4	+	25	4405	c.4283C>T	c.(4282-4284)gCc>gTc	p.A1428V	FHOD3_ENST00000590592.1_Missense_Mutation_p.A1611V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A624V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1390V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1411V|FHOD3_ENST00000592128.1_Missense_Mutation_p.A407V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1411					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAGCCAGAGCCCTGGGCTTG	0.562000													23	31					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091172	32091172	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:32091172G>A	ENST00000396184.3	-	3	326	c.122C>T	c.(121-123)tCc>tTc	p.S41F	PDE1C_ENST00000396191.1_Missense_Mutation_p.S41F|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.S41F|PDE1C_ENST00000396182.2_Missense_Mutation_p.S41F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	41					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTACCTCTGGGACGTTTTCTT	0.438000													21	51					0	0	1	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011156	23011156	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:23011156C>T	ENST00000390304.2	+	0	257																											GTGAGCGGCCCTCAGGGATCC	0.562000													22	38					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67673641	67673641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:67673641C>T	ENST00000255674.6	-	47	6787	c.6501G>A	c.(6499-6501)tgG>tgA	p.W2167*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2167							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAATCAGAGCCCAAAGGGCAG	0.378000													36	56					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112696	207112696	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:207112696C>T	ENST00000356495.4	-	3	339	c.156G>A	c.(154-156)cgG>cgA	p.R52R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	52	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCAGTACTTCCGGGTGTGCC	0.567000													16	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066116	9066116	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9066116G>A	ENST00000397910.4	-	3	21533	c.21330C>T	c.(21328-21330)ccC>ccT	p.P7110P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7112	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGGAAATGGGAGGAGGTG	0.517000													16	57					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17740063	17740063	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:17740063C>T	ENST00000428389.2	-	32	4002	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	UNC13A_ENST00000519716.2_Missense_Mutation_p.E1247K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1247K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1247K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1247K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1245K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1247					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCTCCTTCTCCTTGGAGCAG	0.577000													5	9					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436094	3436094	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:3436094C>T	ENST00000301365.4	-	8	1053	c.922G>A	c.(922-924)Gag>Aag	p.E308K	TRPV3_ENST00000576742.1_Missense_Mutation_p.E308K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E308K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	308						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TTGAAGTCCTCGGCCACGGTC	0.582000													38	12					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98893472	98893472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:98893472G>A	ENST00000295268.3	-	7	981	c.892C>T	c.(892-894)Cag>Tag	p.Q298*		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GCTTCTTTCTGAACCGAGAAG	0.363000													24	104					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100613822	100613822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:100613822G>A	ENST00000370141.2	+	10	1196	c.1190G>A	c.(1189-1191)aGt>aAt	p.S397N		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		AATGATGATAGTGAAGAGCAT	0.413000													82	251					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222270	55222270	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55222270G>A	ENST00000413439.1	+	0	1718																											GGACGCTAAGGAAAGAGGGGA	0.642000													15	18					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866711	37866711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:37866711C>T	ENST00000406381.2	+	9	1298	c.788C>T	c.(787-789)gCc>gTc	p.A263V	ERBB2_ENST00000269571.5_Missense_Mutation_p.A293V|ERBB2_ENST00000584601.1_Missense_Mutation_p.A263V|ERBB2_ENST00000584450.1_Missense_Mutation_p.A293V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A263V|ERBB2_ENST00000578199.1_Missense_Mutation_p.A263V|ERBB2_ENST00000540042.1_Missense_Mutation_p.A263V|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.A278V	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	293					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACATTCGGCGCCAGCTGTGTG	0.552000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			30	35					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39127898	39127898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:39127898G>A	ENST00000351578.6	-	11	2042	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	FYB_ENST00000540520.1_Missense_Mutation_p.P628S|FYB_ENST00000512982.1_Missense_Mutation_p.P618S|FYB_ENST00000515010.1_Missense_Mutation_p.P618S|FYB_ENST00000505428.1_Missense_Mutation_p.P618S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	618	Poly-Pro.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTGGTGGTGGAGGGAATATC	0.333000													6	21					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109755	43109755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:43109755C>T	ENST00000230419.4	+	12	2076	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	PTK7_ENST00000349241.2_Missense_Mutation_p.P489S|PTK7_ENST00000352931.2_Missense_Mutation_p.P619S|PTK7_ENST00000481273.1_Missense_Mutation_p.P627S|PTK7_ENST00000345201.2_Missense_Mutation_p.P579S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	619	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGGGGACCCCAAGCCGCT	0.597000													23	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585911	179585911	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179585911T>C	ENST00000589042.1	-	79	23059	c.22835A>G	c.(22834-22836)aAg>aGg	p.K7612R	TTN_ENST00000591111.1_Missense_Mutation_p.K7295R|TTN_ENST00000342992.6_Missense_Mutation_p.K6368R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7295	Ig-like 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTAATTTCTTAACAAACTT	0.348000													15	46					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829380	14829380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14829380G>A	ENST00000292530.6	+	12	1332	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K	ZNF333_ENST00000536363.1_Missense_Mutation_p.R305K|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CGACACATGAGAACCCATACC	0.463000													32	44					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493978	55493978	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55493978C>T	ENST00000543010.1	+	6	1055	c.912C>T	c.(910-912)atC>atT	p.I304I	NLRP2_ENST00000538819.1_Silent_p.I280I|NLRP2_ENST00000427260.2_Silent_p.I281I|NLRP2_ENST00000448584.2_Silent_p.I304I|NLRP2_ENST00000391721.4_Silent_p.I280I|NLRP2_ENST00000339757.7_Silent_p.I282I|NLRP2_ENST00000263437.6_Silent_p.I301I|NLRP2_ENST00000537859.1_Silent_p.I282I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	304	NACHT.			I -> S (in Ref. 4; BAB15293).	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCGAGGACATCTGCGGGGACT	0.597000													17	53					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:71114847C>T	ENST00000304954.3	+	4	306	c.220C>T	c.(220-222)Cca>Tca	p.P74S		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433000													38	84					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573629	76573629	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:76573629C>T	ENST00000307431.8	+	21	3616	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I	CNTNAP4_ENST00000476707.1_Silent_p.I1081I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.I1029I|CNTNAP4_ENST00000478060.1_Silent_p.I1005I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1078	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTTTGCAGATCAGGTACAAGT	0.333000													14	40					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622727	112622727	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:112622727G>A	ENST00000550722.1	-	61	10000	c.9605C>T	c.(9604-9606)cCc>cTc	p.P3202L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P2926L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3176L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATGTCCTCGGGCTTGCTGCC	0.657000													3	34					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809130	57809130	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:57809130C>T	ENST00000281282.5	+	9	2634	c.2556C>T	c.(2554-2556)atC>atT	p.I852I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	852						myosin complex|tight junction	motor activity	p.I852I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGGCAGATCGAGGACCTGA	0.577000													9	30					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967516	48967516	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:48967516C>T	ENST00000391884.1	+	2	1269	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R265C			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	265						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCACCGATCGTATCTTCCT	0.607000													15	20					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87133570	87133570	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:87133570T>C	ENST00000265724.3	-	29	4249	c.3832A>G	c.(3832-3834)Aag>Gag	p.K1278E	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.K1214E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1278					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CACTGGCGCTTTGTTCCAGCC	0.393000													58	129					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86546549	86546549	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:86546549C>T	ENST00000262426.4	+	2	1041	c.998C>T	c.(997-999)tCg>tTg	p.S333L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	333					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGGTATCACTCGCAGTCGCCC	0.617000													13	58					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52511699	52511699	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:52511699G>A	ENST00000242839.4	-	18	3972	c.3816C>T	c.(3814-3816)tcC>tcT	p.S1272S	ATP7B_ENST00000400366.3_Silent_p.S1161S|ATP7B_ENST00000418097.2_Silent_p.S1207S|ATP7B_ENST00000417240.2_Silent_p.S483S|ATP7B_ENST00000400370.3_Silent_p.S842S|ATP7B_ENST00000448424.2_Silent_p.S1194S|ATP7B_ENST00000344297.5_Silent_p.S1065S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1272					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCAAGGCCGGGGAGTCATTGA	0.612000									Wilson disease				48	10					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557922	52557922	+	Silent	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:52557922G>T	ENST00000321725.6	+	67	7507	c.7431G>T	c.(7429-7431)gcG>gcT	p.A2477A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2477					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACCTGTGGCGGCAGGCGTGG	0.657000													17	19					4.75885e-15	4.84864e-15	1	1	0
CTC1	80169	broad.mit.edu	37	17	8135759	8135759	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:8135759G>A	ENST00000315684.8	-	12	1987	c.1980C>T	c.(1978-1980)atC>atT	p.I660I		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	660					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCTCTCTACGATCAACTGAA	0.552000													84	43					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53854884	53854884	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53854884C>T	ENST00000603815.1	+	7	811	c.461C>T	c.(460-462)tCc>tTc	p.S154F	PCBP2_ENST00000541275.1_Missense_Mutation_p.S154F|PCBP2_ENST00000447282.1_Missense_Mutation_p.S154F|PCBP2_ENST00000437231.1_Missense_Mutation_p.S154F|PCBP2_ENST00000552819.1_Missense_Mutation_p.S154F|PCBP2_ENST00000552296.2_Missense_Mutation_p.S154F|PCBP2_ENST00000439930.3_Missense_Mutation_p.S154F|PCBP2_ENST00000549863.1_Missense_Mutation_p.S154F|PCBP2_ENST00000548933.1_Missense_Mutation_p.S154F|PCBP2_ENST00000359282.5_Missense_Mutation_p.S154F|PCBP2_ENST00000546463.1_Missense_Mutation_p.S154F|PCBP2_ENST00000359462.5_Missense_Mutation_p.S154F|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.S154F	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	154	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATTCCACAATCCATCATTGAG	0.532000													24	19					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687458	55687458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55687458G>A	ENST00000354308.3	-	4	656	c.287C>T	c.(286-288)cCa>cTa	p.P96L	SYT5_ENST00000590851.1_Missense_Mutation_p.P93L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.P96L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	96					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S97fs*12(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGCCCGGATGGTGCTGGCTC	0.577000													60	74					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93393939	93393939	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:93393939G>A	ENST00000216492.5	+	4	512	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CHGA_ENST00000334654.4_Missense_Mutation_p.E78K|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	78					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TTTACTGAAGGAGCTCCAAGA	0.453000													63	148					0	0	1	0	0
TRAV5	28688	broad.mit.edu	37	14	22217496	22217496	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:22217496C>T	ENST00000390427.3	+	0	35																											GCTGGATTTTCGTTCCTGTTT	0.458000													94	82					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40291795	40291795	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:40291795G>A	ENST00000302541.6	+	14	2687	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	MYRIP_ENST00000444716.1_Missense_Mutation_p.R782Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R595Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R693Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.R717Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	782	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACAAGAAGACGGGATCAGAAG	0.433000													23	40					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447157	226447157	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:226447157G>A	ENST00000272907.6	+	4	1437	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	342	Pro-rich.																ATTTCCCCCCGCCCCCGTGCA	0.632000													11	21					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3350283	3350283	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:3350283C>T	ENST00000378398.3	+	18	3821	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	PRDM16_ENST00000378391.2_Intron|PRDM16_ENST00000442529.2_Intron|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1246Y|PRDM16_ENST00000514189.1_3'UTR|PRDM16_ENST00000511072.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.H1247Y|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1247	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACTCCTCTCCACACCCCCTC	0.617000			T	EVI1	"""MDS, AML"""								51	187					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074222	9074222	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9074222G>A	ENST00000397910.4	-	3	13427	c.13224C>T	c.(13222-13224)acC>acT	p.T4408T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4410	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAAGGCATGGTTGATGTGT	0.473000													32	118					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	431694	431694	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:431694T>G	ENST00000399788.2	-	17	2677	c.2315A>C	c.(2314-2316)gAt>gCt	p.D772A	KDM5A_ENST00000382815.4_Missense_Mutation_p.D772A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	772					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTATTTCCTATCCTCAGCATC	0.383000			T	NUP98	AML								40	116					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690514	77690514	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:77690514C>T	ENST00000521891.2	+	4	3612	c.3164C>T	c.(3163-3165)aCc>aTc	p.T1055I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1029I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1029I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1029I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1029						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1055S(1)		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)			TGTGATTACACCACCAAGGTC	0.517000										HNSCC(33;0.089)			33	96					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161899	41161899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41161899C>T	ENST00000263413.3	-	10	1618	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	C6_ENST00000337836.5_Missense_Mutation_p.G452R|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	452	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGCTGCTCCATATTCACTC	0.423000													29	67					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887663	887663	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:887663G>A	ENST00000314167.4	-	8	986	c.877_splice	c.e8+1	p.I292_splice	GAK_ENST00000511163.1_Splice_Site_p.I213_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	292	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGACTTACGGATGAGGCTGT	0.627000													29	16					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24175005	24175005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:24175005C>T	ENST00000378454.3	-	10	1685	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E215K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	462					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTTCATTTTCTTCTGGACTG	0.373000													41	86					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917424	48917424	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:48917424C>T	ENST00000311378.4	+	2	1303	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.H166Y|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	259	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCGGCCCAACCATGTGCGTGG	0.607000													28	58					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135983700	135983700	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:135983700G>A	ENST00000393160.3	-	6	1060	c.707C>T	c.(706-708)cCg>cTg	p.P236L	RALGDS_ENST00000393157.3_Missense_Mutation_p.P290L|RALGDS_ENST00000542690.1_Missense_Mutation_p.P362L|RALGDS_ENST00000372062.3_Missense_Mutation_p.P262L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P279L|RALGDS_ENST00000372050.3_Missense_Mutation_p.P291L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	291	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ctctggctccggggctggagc	0.622000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								4	3					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545961	112545961	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:112545961G>A	ENST00000488794.1	-	6	1084	c.495C>T	c.(493-495)taC>taT	p.Y165Y	CD200R1L_ENST00000448932.1_Silent_p.Y165Y|CD200R1L_ENST00000398214.1_Silent_p.Y186Y			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	186	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CATTGCCCCAGTATTCTTGCT	0.522000													20	58					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:120475859G>A	ENST00000355622.6	+	3	1554	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	485					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000													49	63					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32118303	32118303	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:32118303C>T	ENST00000373672.3	-	71	5280	c.4764G>A	c.(4762-4764)ccG>ccA	p.P1588P	RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000271069.6_Silent_p.P1588P|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1588	Nonhelical region 1 (NC1).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCTGCTCCATCGGCATGGCCC	0.597000													16	57					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664681	134664681	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:134664681G>A	ENST00000368586.5	-	40	5803	c.5703C>T	c.(5701-5703)tcC>tcT	p.S1901S	TTC40_ENST00000263170.5_Silent_p.S62S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	62										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTTCTCCAGGGACCCCTGCT	0.627000													12	32					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170031769	170031769	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:170031769G>A	ENST00000263816.3	-	55	10987	c.10702C>T	c.(10702-10704)Ccg>Tcg	p.P3568S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3568	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAAGTCTGCGGGCTGGTGCAG	0.532000													36	58					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74588151	74588151	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:74588151C>T	ENST00000321288.5	+	13	1761	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	CCDC33_ENST00000398814.3_Silent_p.P384P			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	587							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTTGGACCCCAAGATCCTGG	0.512000													38	35					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78422296	78422296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:78422296G>A	ENST00000370767.1	-	17	1753	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	FUBP1_ENST00000436586.2_Missense_Mutation_p.P577S|FUBP1_ENST00000370768.2_Missense_Mutation_p.P556S			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	556	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACCTGCAGGGGCTGCTGGT	0.423000			"""F, N"""		oligodendroglioma								92	52					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131683	110131683	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110131683G>A	ENST00000518632.1	+	3	1547	c.1196G>A	c.(1195-1197)tGa>tAa	p.*399*	TRHR_ENST00000311762.2_Silent_p.*399*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	0						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGCCAAAGTTGATTCATGAAT	0.403000													18	45					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119301317	119301317	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:119301317C>T	ENST00000338891.7	-	10	2730	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E643K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E763K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E643K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	763										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCTCCTTTTCCTTTTCCTCT	0.318000													13	54					0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42012427	42012427	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:42012427C>T	ENST00000518421.1	+	3	513	c.222C>T	c.(220-222)gtC>gtT	p.V74V	AP3M2_ENST00000174653.3_Silent_p.V74V|AP3M2_ENST00000517922.1_Silent_p.V74V|AP3M2_ENST00000396926.3_Silent_p.V74V|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	74					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGACGGAGGTCCCCCCTCTGT	0.468000													20	57					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720644	63720644	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:63720644G>A	ENST00000421025.1	+	3	354	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E29K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTCTCTGGAGGAGTGGCAATG	0.398000													50	148					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95229793	95229793	+	Missense_Mutation	SNP	C	C	T	rs118137678	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:95229793C>T	ENST00000295256.5	-	4	418	c.328G>A	c.(328-330)Gat>Aat	p.D110N	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	110	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	ACTTTCACATCTTGCTTTTTC	0.368000													31	137					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37186469	37186469	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:37186469G>A	ENST00000274258.7	-	24	4338	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1370S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1370S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1370										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCAGGATAGGGAAATGCTTTC	0.338000													54	51					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216948	78216948	+	Missense_Mutation	SNP	G	G	A	rs34634066		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:78216948G>A	ENST00000171757.2	+	4	1211	c.931G>A	c.(931-933)Gag>Aag	p.E311K	P2RY10_ENST00000544091.1_Missense_Mutation_p.E311K	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	311						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATGGCTTCAGAGTTTCGTGA	0.468000													99	13					0	0	1	0	0
SUDS3	64426	broad.mit.edu	37	12	118827743	118827743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:118827743C>T	ENST00000543473.1	+	5	664	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	SUDS3_ENST00000397564.2_Intron	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	118					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCTTCCTCCAGCTGGAAGT	0.448000													18	18					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748358	73748358	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73748358G>A	ENST00000200181.3	+	31	4084	c.3897G>A	c.(3895-3897)aaG>aaA	p.K1299K	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.K1299K|ITGB4_ENST00000450894.3_Silent_p.K1299K|ITGB4_ENST00000449880.2_Silent_p.K1299K|ITGB4_ENST00000339591.3_Silent_p.K1299K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1299	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACACGGTGAAGGCGCGCAACG	0.622000													71	155					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121338307	121338307	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:121338307A>G	ENST00000369092.4	-	8	1426	c.118T>C	c.(118-120)Ttg>Ctg	p.L40L	TIAL1_ENST00000436547.2_Silent_p.L163L|TIAL1_ENST00000369093.2_Silent_p.L180L			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	163	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CGACCACCCAACCACTGACCG	0.403000													7	20					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133471	47133471	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:47133471G>A	ENST00000422732.2	-	0	435					NR_033957.1																						TCCCTTCATGGGTCCAAAATT	0.448000													25	102					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117060293	117060293	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:117060293G>A	ENST00000284629.2	-	4	426	c.364C>T	c.(364-366)Cat>Tat	p.H122Y		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTGAGCCATGAGCAGAACAT	0.363000													51	48					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	33					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378000													114	103					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61471977	61471977	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:61471977C>T	ENST00000343916.3	+	32	1951	c.1948C>T	c.(1948-1950)Cca>Tca	p.P650S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	650	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCTGGGCTTCCAGGTGCCAT	0.677000													5	10					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102839170	102839170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:102839170C>T	ENST00000504592.1	+	11	1403	c.985C>T	c.(985-987)Cca>Tca	p.P329S	BANK1_ENST00000322953.4_Missense_Mutation_p.P344S|BANK1_ENST00000428908.1_Missense_Mutation_p.P211S|BANK1_ENST00000444316.2_Missense_Mutation_p.P314S|BANK1_ENST00000508653.1_Missense_Mutation_p.P211S			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	344					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CAAAGAACTTCCAACTCTTCT	0.358000													20	109					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4594702	4594702	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4594702C>T	ENST00000307616.1	-	2	141	c.141_splice	c.e2-1	p.E48_splice		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	48										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGGATGTTTCCTATCAATGA	0.428000													25	11					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172803230	172803230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:172803230C>T	ENST00000264108.4	+	3	151	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	39					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGAAACAGTTCGTTTTCCTGA	0.313000													40	54					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45184548	45184548	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:45184548C>T	ENST00000358777.4	+	6	1236	c.756C>T	c.(754-756)tcC>tcT	p.S252S	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.S252S|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	252						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TCCTGGTGTCCCCCATCAGTG	0.602000													7	16					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31540580	31540580	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:31540580G>A	ENST00000389082.5	-	21	4046	c.3782C>T	c.(3781-3783)aCc>aTc	p.T1261I	DENND5B_ENST00000306833.6_Missense_Mutation_p.T1296I|DENND5B_ENST00000536562.1_Missense_Mutation_p.T1296I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1261	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGGACTATGGTGAAGTCCTG	0.507000													23	17					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136437776	136437776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:136437776C>T	ENST00000264160.4	+	20	2606	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	R3HDM1_ENST00000409606.1_Missense_Mutation_p.H747Y|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H691Y|R3HDM1_ENST00000329971.3_Missense_Mutation_p.H617Y|R3HDM1_ENST00000409478.1_Missense_Mutation_p.H618Y	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	746							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGGAATTCCCCATCAGACTTA	0.378000													58	132					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141468	114141468	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:114141468A>G	ENST00000276198.1	+	6	1595	c.867A>G	c.(865-867)agA>agG	p.R289R	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.R289R	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	289					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CACGCCGAAGAAAGAAGAAGG	0.483000													7	121					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149918	153149918	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:153149918G>A	ENST00000285900.5	+	13	2556	c.2213G>A	c.(2212-2214)gGa>gAa	p.G738E	GRIA1_ENST00000521843.2_Missense_Mutation_p.G669E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G748E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G738E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G658E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G748E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	738					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAAGGTGGGAGGTAACTTG	0.507000													18	51					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053445	44053445	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:44053445G>A	ENST00000306006.6	-	2	735	c.83C>T	c.(82-84)tCc>tTc	p.S28F	ZNF239_ENST00000535642.1_Missense_Mutation_p.S28F|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S28F|ZNF239_ENST00000426961.1_Missense_Mutation_p.S28F	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTGACAAGGGGAAATATCTAG	0.443000													24	43					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038642	75038642	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:75038642C>T	ENST00000326665.5	-	14	2970	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	918	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCTACTTCATGAAGATGC	0.537000													294	153					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273405	125273405	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125273405G>A	ENST00000335302.5	+	1	325	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D109N(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ATTTTTTACTGACCTGGACAG	0.413000													48	51					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097972	56097972	+	Silent	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:56097972T>A	ENST00000394555.2	-	10	1638	c.1203A>T	c.(1201-1203)cgA>cgT	p.R401R	EFEMP1_ENST00000424836.2_Silent_p.R263R|EFEMP1_ENST00000394554.1_Silent_p.R401R|EFEMP1_ENST00000355426.3_Silent_p.R401R	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	401	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTATCAGATCGGATGCTCA	0.428000													9	113					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018872	14018872	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:14018872C>T	ENST00000279593.3	-	2	480	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	91					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTTCCGGTCAGACATGAGA	0.542000													56	48					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725526	158725526	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158725526C>T	ENST00000368144.2	+	1	1017	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTTTTGTTATCCTTGCTCCCT	0.438000													30	149					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30625894	30625894	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:30625894G>A	ENST00000358107.4	-	5	1007	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.L206L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	206					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAGATATCGGAGCTTAGTGT	0.448000													41	69					0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29993946	29993946	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:29993946G>A	ENST00000376314.2	-	1	123	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	4					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGAAGAAGGAGCTTCATG	0.493000													14	35					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:117768538C>T	ENST00000317775.6	-	2	1022	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_ENST00000344089.3_Missense_Mutation_p.G113S|NOS1_ENST00000338101.4_Missense_Mutation_p.G113S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632000													31	21					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61802478	61802478	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:61802478G>A	ENST00000280772.1	-	43	13296	c.13105C>T	c.(13105-13107)Cgg>Tgg	p.R4369W	ANK3_ENST00000355288.2_Missense_Mutation_p.R993W|ANK3_ENST00000503366.1_Missense_Mutation_p.R1860W|ANK3_ENST00000373827.2_Missense_Mutation_p.R1853W	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4369					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCACATGCCGGATTTCTTTC	0.398000													35	52					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67129877	67129877	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:67129877G>A	ENST00000284425.2	-	6	870	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	232					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATACAAGTGGGGAGAAATGAA	0.313000													25	86					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27375019	27375019	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:27375019C>T	ENST00000395762.2	+	11	2605	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	IL4R_ENST00000170630.2_Silent_p.P782P|IL4R_ENST00000543915.2_Silent_p.P782P|IL4R_ENST00000380922.3_Silent_p.P767P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	782					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCTGGCACCCTCGGGCATCT	0.607000													52	47					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97817640	97817640	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:97817640C>T	ENST00000265992.5	+	6	1128	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CCNJ_ENST00000465148.2_Missense_Mutation_p.P265L|CCNJ_ENST00000403870.3_Missense_Mutation_p.P253L|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.P254L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	254						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAAGCAGGACCTCAGTCAGCG	0.463000													25	60					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224619204	224619204	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:224619204G>A	ENST00000414423.2	-	3	795	c.602C>T	c.(601-603)tCt>tTt	p.S201F	WDR26_ENST00000295024.6_Missense_Mutation_p.S54F|WDR26_ENST00000366852.2_Intron	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	201	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CAACGTTTGAGAGATTTCAAG	0.353000													35	15					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920915	89920915	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:89920915C>T	ENST00000378247.3	+	5	790	c.747C>T	c.(745-747)ctC>ctT	p.L249L	SPIRE2_ENST00000393062.2_Silent_p.L249L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	249	WH2 1.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGTTCAGCTCATGCGGGAGC	0.652000													23	25					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717407	222717407	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:222717407G>A	ENST00000343410.6	-	2	504	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	149					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGTCAGCAGGGAAATGGCTGA	0.577000													127	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486307	179486307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179486307C>T	ENST00000589042.1	-	245	45468	c.45244G>A	c.(45244-45246)Gga>Aga	p.G15082R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13441R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12514R|TTN_ENST00000359218.5_Missense_Mutation_p.G6142R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G6017R|TTN_ENST00000342175.6_Missense_Mutation_p.G6209R|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13441	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTCCGTCCTTCAGTCAGT	0.458000													26	62					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004817	25004817	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:25004817C>T	ENST00000533227.1	+	9	772	c.485C>T	c.(484-486)cCa>cTa	p.P162L	LUZP2_ENST00000336930.6_Missense_Mutation_p.P248L	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	248						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCTAAGCTTCCAGATGCAGCG	0.428000													81	32					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320509	47320509	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:47320509G>A	ENST00000400314.1	+	6	532	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PCBP3_ENST00000449640.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400310.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400309.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400304.1_Missense_Mutation_p.G33E|PCBP3_ENST00000400308.1_Missense_Mutation_p.G65E			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	65	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTCCAGAAAGGAGAAACTGTG	0.612000													31	32					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637290	39637290	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:39637290C>T	ENST00000393989.1	-	1	102	c.60G>A	c.(58-60)ggG>ggA	p.G20G	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	20	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCCACTGGCCCCTCCTGGGC	0.582000													41	55					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884220	228884220	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228884220G>A	ENST00000392056.3	-	7	1396	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	SPHKAP_ENST00000344657.5_Silent_p.I450I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	450						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)		GAACAACGACGATTTTGGGGA	0.498000													86	72					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276417	34276417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34276417G>A	ENST00000373381.4	-	10	1549	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	CSMD2_ENST00000338325.1_Missense_Mutation_p.S15F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	418	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAATTGGGGGAGGTGATGAT	0.547000													32	166					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377922	49377922	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49377922C>T	ENST00000200453.5	+	2	1701	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	478	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCAGAGGGCCCACTTCAGGGG	0.572000													8	75					0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2489859	2489859	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:2489859C>T	ENST00000355716.4	+	3	555	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.H86Y|TNFRSF14_ENST00000442392.2_3'UTR	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	86					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CTACATTGCCCACCTCAATGG	0.627000			"""Mis, N, F"""		follicular lymphoma								55	173					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725536	55725536	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:55725536C>T	ENST00000379667.1	+	1	52	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTGATGATCCTGACCTTCA	0.408000													49	62					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262518	45262518	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:45262518C>T	ENST00000303230.4	-	8	2235	c.2178G>A	c.(2176-2178)caG>caA	p.Q726Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	726	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTGACAGCTGGGAGGCGG	0.657000													14	13					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204075774	204075774	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:204075774G>A	ENST00000449802.1	+	53	8125	c.7792G>A	c.(7792-7794)Gaa>Aaa	p.E2598K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2598							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATAATCGGAGAACACATTGT	0.353000													39	52					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956091	96956091	+	Silent	SNP	G	G	A	rs138641050		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:96956091G>A	ENST00000323853.5	-	20	2792	c.2715C>T	c.(2713-2715)atC>atT	p.I905I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	905	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I905I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCCTAGCACGATTTCTGCAT	0.512000													137	152					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3635752	3635752	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:3635752A>G	ENST00000263087.4	-	22	2762	c.2664T>C	c.(2662-2664)tcT>tcC	p.S888S	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	888					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAATGTTTGGAGAGGGAGGCT	0.458000													28	11					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25514867	25514867	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:25514867G>A	ENST00000554726.1	+	0	34				SNHG14_ENST00000452731.1_RNA																							CAGTGTTTAAGGAAACCATCT	0.443000													13	13					0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122741864	122741864	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:122741864A>G	ENST00000274026.5	-	4	930	c.627T>C	c.(625-627)agT>agC	p.S209S		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	209					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TAGCTCTCATACTGTTAGTGA	0.353000													81	58					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:123595133G>A	ENST00000340011.5	+	4	1394	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338000													130	84					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306490	61306490	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:61306490C>T	ENST00000341074.5	-	7	812	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TATGGTATTTCCAGGACCTTG	0.398000													44	101					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44284865	44284865	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:44284865C>T	ENST00000262888.3	-	1	544	c.149G>A	c.(148-150)gGg>gAg	p.G50E		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	50					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CGAGCACCCCCCGAACCACAG	0.652000													43	44					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66903960	66903960	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:66903960G>A	ENST00000269080.2	-	16	2216	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	ABCA8_ENST00000430352.2_Silent_p.I733I|ABCA8_ENST00000586539.1_Silent_p.I733I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	693						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGCATCAGGGATGTGCTGTT	0.333000													43	34					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202195	248202195	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:248202195C>T	ENST00000366479.2	+	1	722	c.626C>T	c.(625-627)cCt>cTt	p.P209L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTTGTGCTTCCTTTCACTGGT	0.493000													252	149					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7817757	7817757	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:7817757G>A	ENST00000379562.3	-	6	611	c.564C>T	c.(562-564)gtC>gtT	p.V188V	KIN_ENST00000535925.1_Silent_p.V188V|KIN_ENST00000543003.1_Silent_p.V82V			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	188					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TAAAAGTAGGGACCTCCTAAA	0.313000													11	19					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413652	178413652	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:178413652G>A	ENST00000231188.5	-	8	1781	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	GRM6_ENST00000517717.1_Missense_Mutation_p.P535S|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	535					detection of visible light|visual perception	integral to plasma membrane		p.P535S(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAACAGCAGGGGACGCCCTTC	0.682000													15	33					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123781520	123781520	+	Silent	SNP	G	G	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:123781520G>C	ENST00000369005.1	+	2	364	c.24G>C	c.(22-24)tcG>tcC	p.S8S	TACC2_ENST00000358010.1_Silent_p.S8S|TACC2_ENST00000334433.3_Silent_p.S8S|TACC2_ENST00000453444.2_Silent_p.S8S|TACC2_ENST00000515273.1_Silent_p.S8S|TACC2_ENST00000513429.1_Silent_p.S8S|TACC2_ENST00000515603.1_Silent_p.S8S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	8						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGCACCTCGGACAACCAGG	0.502000													9	19					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14266210	14266210	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14266210C>T	ENST00000340736.6	-	19	3567	c.3270G>A	c.(3268-3270)ggG>ggA	p.G1090G	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1085G|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1090					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATGAAGACCCCCTGGAAGG	0.582000													42	55					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24588993	24588993	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24588993G>A	ENST00000446197.3	+	11	1707	c.980G>A	c.(979-981)gGa>gAa	p.G327E	DCAF11_ENST00000396941.4_Missense_Mutation_p.G301E|DCAF11_ENST00000559115.1_Missense_Mutation_p.G327E|DCAF11_ENST00000396936.1_Missense_Mutation_p.G227E	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	327						CUL4 RING ubiquitin ligase complex	protein binding										TTCTCTGGGGGAGATGATGCC	0.537000													23	18					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541328	187541328	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:187541328T>A	ENST00000441802.2	-	10	6621	c.6412A>T	c.(6412-6414)Aaa>Taa	p.K2138*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2138	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATTGCTTTTTCAGTGAAATT	0.428000										HNSCC(5;0.00058)			85	42					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280784	238280784	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:238280784C>T	ENST00000295550.4	-	9	4328	c.3876G>A	c.(3874-3876)aaG>aaA	p.K1292K	COL6A3_ENST00000392004.3_Silent_p.K1086K|COL6A3_ENST00000353578.4_Silent_p.K1086K|COL6A3_ENST00000346358.4_Silent_p.K1092K|COL6A3_ENST00000472056.1_Silent_p.K685K|COL6A3_ENST00000347401.3_Silent_p.K1091K|COL6A3_ENST00000392003.2_Silent_p.K885K|COL6A3_ENST00000409809.1_Silent_p.K1086K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1292	Nonhelical region.|VWFA 7.				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)		GCACTTCATCCTTGCTGGAAT	0.592000													24	48					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045098	55045098	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55045098C>T	ENST00000335056.3	+	3	256	c.218C>T	c.(217-219)aCt>aTt	p.T73I																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAGTTGCACACTGGCCTTTCC	0.512000													25	20					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664680	134664680	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:134664680G>A	ENST00000368586.5	-	40	5804	c.5704C>T	c.(5704-5706)Ctg>Ttg	p.L1902L	TTC40_ENST00000263170.5_Silent_p.L63L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	63										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGCTTCTCCAGGGACCCCTGC	0.622000													12	32					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408560	40408560	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:40408560G>A	ENST00000221347.6	-	8	4286	c.4279C>T	c.(4279-4281)Ccc>Tcc	p.P1427S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1427	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGGCAGGGAGAGTCGGGC	0.627000													34	35					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890919	100890919	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:100890919G>A	ENST00000343933.5	-	9	1307	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	CORO2A_ENST00000375077.4_Silent_p.I350I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	350					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGATGGGCTCGATGAGGCTTT	0.592000													15	34					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834035	61834035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:61834035C>T	ENST00000280772.1	-	37	6795	c.6604G>A	c.(6604-6606)Gaa>Aaa	p.E2202K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2202					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTCCAATTCCATAAAAGTA	0.443000													34	58					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977544	178977544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:178977544C>T	ENST00000286070.5	+	1	363	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	91	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGGCCAGTGCCTCGGCCCCAA	0.657000													22	55					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729767	80729767	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:80729767G>A	ENST00000458043.2	+	38	4426	c.4420G>A	c.(4420-4422)Gat>Aat	p.D1474N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1462N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCTGTTTATGATTGTAGCCA	0.353000													28	36					0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39492469	39492469	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:39492469G>A	ENST00000328264.3	-	2	266	c.162C>T	c.(160-162)atC>atT	p.I54I	DSCR4_ENST00000398948.1_Silent_p.I54I	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	54										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						ggcaggaaacgatgttgcaga	0.398000													38	42					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833968	24833968	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:24833968G>A	ENST00000376451.2	+	15	4579	c.4319G>A	c.(4318-4320)aGa>aAa	p.R1440K	KIAA1217_ENST00000396445.1_Missense_Mutation_p.R881K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1188K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R841K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R907K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1078K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1757K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1163K			Q5T5P2	SKT_HUMAN	KIAA1217	1757					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCAAGAACAGACCCGGAACC	0.582000													28	60					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891367	18891367	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:18891367C>T	ENST00000317658.3	+	1	323	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	55					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCACCAACACTGCCAAAAAT	0.453000													25	83					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215756	123215756	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:123215756G>A	ENST00000349780.4	-	21	2950	c.2771C>T	c.(2770-2772)tCc>tTc	p.S924F	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S924F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S892F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S924F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	924					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACCAGGGAGGGAAAGGAGGGC	0.463000													22	91					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000													8	11					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92361306	92361306	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:92361306C>T	ENST00000267620.10	-	6	782	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	FBLN5_ENST00000556154.1_Missense_Mutation_p.G169S|FBLN5_ENST00000342058.4_Missense_Mutation_p.G164S			Q9UBX5	FBLN5_HUMAN	fibulin 5	164	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AAGCACTGGCCTTCCAGAAGC	0.562000													20	16					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14043567	14043567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14043567G>A	ENST00000538517.2	-	6	1461	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	PODNL1_ENST00000339560.5_Missense_Mutation_p.P497L|PODNL1_ENST00000538371.2_Missense_Mutation_p.P495L|PODNL1_ENST00000254320.3_Missense_Mutation_p.P415L	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	497	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCAGGGGGATGGAGGGGCCCT	0.592000													28	36					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874935	80874935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:80874935C>T	ENST00000466387.1	+	22	3380	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q886*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q920*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q886*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.Q565*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q934*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q841*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	934					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACGAGGTTCTCAGAAGAAACA	0.423000													69	147					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105685584	105685584	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:105685584G>A	ENST00000440513.3	-	13	1512	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	BRF1_ENST00000446501.2_Intron|BRF1_ENST00000547530.1_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Intron|BRF1_ENST00000549044.1_Intron	NM_001242786.1	NP_001229715.1	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	459					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCGAGCACAGGGAAGTGGGGC	0.622000													13	66					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801748	39801748	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:39801748C>T	ENST00000564288.1	+	37	10265	c.9488C>T	c.(9487-9489)tCc>tTc	p.S3163F	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1603F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3168F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3200F|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3168					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S1603Y(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCAAATTTCCTCATCTAAT	0.378000													39	130					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34096763	34096763	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:34096763G>A	ENST00000361264.4	-	6	1153	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	271						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GCCATCCAGAGACACTGCTCC	0.383000													30	11					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148924004	148924004	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:148924004G>A	ENST00000264613.6	-	6	1421	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATACCAGAGGGAGCATAGTTC	0.408000													62	60					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161920	43161920	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:43161920G>A	ENST00000352483.2	-	9	1641	c.1577C>T	c.(1576-1578)gCc>gTc	p.A526V	RIPK4_ENST00000542057.1_Missense_Mutation_p.A415V|RIPK4_ENST00000332512.3_Missense_Mutation_p.A478V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A415V			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	478						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCTCCACGGCCATGTGCAA	0.642000													58	110					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139739778	139739778	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139739778C>T	ENST00000436881.1	+	1	912	c.912C>T	c.(910-912)gcC>gcT	p.A304A		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	304	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						CCTTCGACGCCTACTACCCCA	0.667000													26	13					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47705472	47705472	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:47705472G>A	ENST00000406134.1	+	14	2334	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	MSH2_ENST00000543555.1_Missense_Mutation_p.D692N|MSH2_ENST00000233146.2_Missense_Mutation_p.D758N			P43246	MSH2_HUMAN	mutS homolog 2	758					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCTACCTACGATGGATTTGG	0.373000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				128	110					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267489	71267489	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:71267489G>A	ENST00000554752.2	-	2	714	c.715C>T	c.(715-717)Cca>Tca	p.P239S	MAP3K9_ENST00000555993.2_Missense_Mutation_p.P239S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P239S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	239	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGATGTCTGGGGGAATCCTT	0.502000													26	64					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48080605	48080605	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48080605A>G	ENST00000005386.3	-	9	1065	c.950T>C	c.(949-951)cTt>cCt	p.L317P	RPAP3_ENST00000432584.3_Missense_Mutation_p.L158P|RPAP3_ENST00000380650.4_Missense_Mutation_p.L317P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	317							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGCTGGAAGAAGGGCATTAGC	0.368000													18	57					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791738	44791738	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:44791738T>C	ENST00000291182.4	-	5	1952	c.1850A>G	c.(1849-1851)cAt>cGt	p.H617R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GACTCTCTGATGGGCTTGAAG	0.468000													109	94					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718005	72718005	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:72718005G>A	ENST00000428206.1	-	8	862	c.849C>T	c.(847-849)ccC>ccT	p.P283P	NSUN5_ENST00000310326.8_Silent_p.P321P|NSUN5_ENST00000252594.6_Silent_p.P321P|NSUN5_ENST00000438747.2_Silent_p.P321P	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	321							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGCCTGCCCCGGGCTCCTCCA	0.612000													44	35					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882191	228882191	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228882191C>T	ENST00000392056.3	-	7	3425	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1127N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1127						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)		GAAAACTCATCGGTGATGCTC	0.532000													34	38					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766381	88766381	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:88766381A>C	ENST00000497649.2	+	6	667	c.289A>C	c.(289-291)Act>Cct	p.T97P	MEPE_ENST00000560249.1_Missense_Mutation_p.T8P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.T121P|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.T121P|MEPE_ENST00000395102.4_Missense_Mutation_p.T152P|MEPE_ENST00000540395.1_Missense_Mutation_p.T8P			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	121					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCCTAAGTCAACTGGGAATAA	0.358000													22	84					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96024952	96024952	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:96024952G>A	ENST00000297954.4	+	13	3361	c.3360_splice	c.e13-1	p.E1121_splice	WNK2_ENST00000427277.2_Splice_Site_p.E733_splice|WNK2_ENST00000395477.2_Splice_Site_p.E1121_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Splice_Site_p.E733_splice			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1121					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TTTATTTCAGGAGCAGGCCTC	0.642000													18	12					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849364	73849364	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:73849364G>A	ENST00000523207.1	+	3	2362	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	592					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCACAGACCGAGGTCATTGT	0.562000													24	69					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778008	31778008	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:31778008G>A	ENST00000375654.4	-	2	1931	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.S581L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	581					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCAGCCACGAAAGGAGCTC	0.388000													77	69					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125798077	125798077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:125798077G>A	ENST00000346248.5	-	5	1786	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	CHST15_ENST00000421115.1_Nonsense_Mutation_p.Q382*|CHST15_ENST00000435907.1_Nonsense_Mutation_p.Q382*	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	382					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCATTTGGCTGAAAGGCGTGG	0.512000													17	32					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131885399	131885399	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:131885399C>T	ENST00000337738.1	+	3	465	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Silent_p.F66F|PPP2R4_ENST00000452489.2_Silent_p.F66F|PPP2R4_ENST00000348141.5_Silent_p.F72F|PPP2R4_ENST00000355007.3_Silent_p.F66F|PPP2R4_ENST00000393370.2_Silent_p.F66F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	66					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGCTGACCTTCGAGTACAGAG	0.537000													68	62					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944843	95944843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:95944843G>A	ENST00000317620.9	+	10	1358	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	PROM2_ENST00000542147.1_Missense_Mutation_p.E409K|PROM2_ENST00000317668.4_Missense_Mutation_p.E409K|PROM2_ENST00000403131.2_Missense_Mutation_p.E409K	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	409						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGGTGGAGGAGAGCAGCCG	0.697000													10	16					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399739	90399739	+	Missense_Mutation	SNP	C	C	T	rs11552246		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:90399739C>T	ENST00000337338.5	+	3	1519	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S371F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	371			S -> Y (in dbSNP:rs11552246).			integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGTTACATATCCATTATTTGT	0.388000													59	226					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89871755	89871755	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:89871755C>A	ENST00000268124.5	-	6	1515	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	POLG_ENST00000442287.2_Missense_Mutation_p.Q394H	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	394					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCACAGTACTGCATCAGGT	0.617000								DNA polymerases (catalytic subunits)					35	34					7.16026e-08	7.2441e-08	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180374516	180374516	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:180374516C>T	ENST00000231229.4	+	4	912	c.678C>T	c.(676-678)acC>acT	p.T226T	BTNL8_ENST00000508408.1_Silent_p.T226T|BTNL8_ENST00000533815.2_Silent_p.T42T|BTNL8_ENST00000511704.1_Silent_p.T110T|BTNL8_ENST00000340184.4_Silent_p.T226T|BTNL8_ENST00000400707.3_Silent_p.T101T|BTNL8_ENST00000505126.1_Silent_p.T19T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	226						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCAGATACCTTTTTCGAGC	0.403000													61	219					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371147	240371147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:240371147C>T	ENST00000319653.9	+	5	3265	c.3035C>T	c.(3034-3036)cCc>cTc	p.P1012L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1012	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCTCCCCCTCTTCCC	0.741000													31	9					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435701	35435701	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:35435701C>T	ENST00000439785.1	+	5	2278	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	ZNF30_ENST00000303586.7_Missense_Mutation_p.L612F|ZNF30_ENST00000601142.1_Missense_Mutation_p.L611F|ZNF30_ENST00000426813.2_Missense_Mutation_p.L530F|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAGTTCAGCCCTTAAAGTGCA	0.423000													20	16					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557923	52557923	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:52557923G>A	ENST00000321725.6	+	67	7508	c.7432G>A	c.(7432-7434)Gca>Aca	p.A2478T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2478					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCTGTGGCGGCAGGCGTGGG	0.662000													17	19					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539256	118539256	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:118539256C>T	ENST00000336338.5	-	33	4952	c.4887G>A	c.(4885-4887)aaG>aaA	p.K1629K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1629						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTGATGATTCTTTTCAAGGT	0.318000													33	93					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95076517	95076517	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95076517G>A	ENST00000371501.4	-	50	5774	c.5652C>T	c.(5650-5652)atC>atT	p.I1884I	MYOF_ENST00000371502.4_Silent_p.I1874I|MYOF_ENST00000358334.5_Silent_p.I1871I|MYOF_ENST00000359263.4_Silent_p.I1884I			Q9NZM1	MYOF_HUMAN	myoferlin	1884					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATATCTGAATGATCAGCCTGG	0.398000													5	33					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218975	49218975	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:49218975G>A	ENST00000327979.2	-	13	1692	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	FAM65C_ENST00000045083.2_Silent_p.F427F|FAM65C_ENST00000535356.1_Silent_p.F431F			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	427										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAAGGGCAGGAAGCCCACAT	0.647000													30	52					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2061874	2061874	+	Missense_Mutation	SNP	G	G	A	rs145623669	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:2061874G>A	ENST00000280665.6	-	7	1311	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	DCP1B_ENST00000397173.4_Missense_Mutation_p.S309F|DCP1B_ENST00000540622.1_Missense_Mutation_p.S285F	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	411					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGTGGAAGGGAGCCATTGAA	0.567000													39	86					0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573514	143573514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:143573514G>A	ENST00000479870.1	-	2	396	c.188C>T	c.(187-189)tCc>tTc	p.S63F	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.S63F	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	63										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTCCTCATGGGACACGACCAC	0.582000													50	48					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914986	61914986	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:61914986C>T	ENST00000448276.2	-	2	482		c.e2-1		SMARCD2_ENST00000323347.10_Splice_Site|SMARCD2_ENST00000225742.9_Splice_Site	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGCCAGGTCGCTGGGGGAAGT	0.667000													20	21					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9997104	9997104	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:9997104C>T	ENST00000279544.3	+	6	742	c.678C>T	c.(676-678)ttC>ttT	p.F226F	KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000324214.4_Silent_p.F176F|KLRF1_ENST00000354855.3_3'UTR	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	226	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GCAGTGTTTTCAAATGGATTT	0.353000													13	24					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357015	49357015	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49357015C>T	ENST00000263265.6	-	12	1805	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G392E	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	417						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGCCCTCCCGGGAGCCCC	0.652000													13	10					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79360125	79360125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:79360125G>A	ENST00000264895.6	+	40	5876	c.5436G>A	c.(5434-5436)atG>atA	p.M1812I	FRAS1_ENST00000325942.6_Missense_Mutation_p.M1812I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1811					cell communication	integral to membrane|plasma membrane	metal ion binding	p.M1812I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTGACATGGACCACAACC	0.373000													54	193					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160477489	160477489	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:160477489T>C	ENST00000356956.1	+	20	2876	c.2728T>C	c.(2728-2730)Tgt>Cgt	p.C910R		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	910					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAACTGGGAGTGTGTGGTCAG	0.488000													36	47					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890188	51890188	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:51890188C>T	ENST00000371117.3	-	32	4695	c.4420G>A	c.(4420-4422)Ggg>Agg	p.G1474R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1474R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1474	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGCAATTCCCCTGACACTCG	0.542000													36	27					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264237	108264237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:108264237C>T	ENST00000520734.1	-	8	1028	c.743G>A	c.(742-744)tGg>tAg	p.W248*	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Nonsense_Mutation_p.W247*			Q15389	ANGP1_HUMAN	angiopoietin 1	448					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGCATCAAACCACCATCCTGA	0.368000													47	46					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:200880918C>T	ENST00000367342.4	+	9	1752	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_ENST00000413687.2_Missense_Mutation_p.P433S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000													8	41					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20552029	20552029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:20552029C>T	ENST00000329697.6	-	13	1744	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E526K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E526K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E447K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	526					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGCTGCAGCTCCTTGGTGAGC	0.488000													73	55					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709237	176709237	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:176709237C>T	ENST00000367662.3	+	14	5220	c.4056C>T	c.(4054-4056)atC>atT	p.I1352I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1352					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTCGGCATCTCAGCTGTGG	0.517000													95	72					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885948	20885948	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:20885948C>T	ENST00000381552.1	+	10	1660	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S382L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S431L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S313L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S431L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	431					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TACTTGGGATCATCTGTCTTT	0.448000													18	118					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230883314	230883314	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:230883314C>T	ENST00000354537.1	+	1	154	c.72C>T	c.(70-72)tcC>tcT	p.S24S	CAPN9_ENST00000366666.2_Silent_p.S24S|CAPN9_ENST00000271971.2_Silent_p.S24S|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	24					digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCACCCACTCCTCAGGCCAGA	0.617000													86	59					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569882	150569882	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:150569882G>A	ENST00000361131.4	+	4	541	c.423_splice	c.e4-1	p.E142_splice		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	142					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383000													20	23					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82924368	82924368	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:82924368G>A	ENST00000306270.7	-	12	2329	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.L594F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	594	BTB 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCATCTGAAAGAAACAATTTC	0.368000													44	41					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847249	159847249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:159847249G>A	ENST00000426543.2	-	9	1248	c.793C>T	c.(793-795)Cga>Tga	p.R265*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.R350*			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	350						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGCTTCTCGAGCCTGCCGG	0.532000													43	176					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23287312	23287312	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:23287312G>A	ENST00000298032.5	+	11	1495	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ARMC3_ENST00000409049.3_Missense_Mutation_p.E471K|ARMC3_ENST00000376528.4_Missense_Mutation_p.E208K|ARMC3_ENST00000409983.3_Missense_Mutation_p.E471K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	471							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGTGACGTTGAAGCCCGGAC	0.458000													11	14					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080287	1080287	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:1080287C>T	ENST00000313093.2	+	14	1968	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	HMHA1_ENST00000586866.1_Silent_p.F583F|HMHA1_ENST00000543365.1_Silent_p.F462F|HMHA1_ENST00000590577.1_Silent_p.F214F|HMHA1_ENST00000539243.2_Silent_p.F595F|HMHA1_ENST00000536472.1_Silent_p.F419F|HMHA1_ENST00000590214.1_Silent_p.F606F	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	579					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTTCAACGTGAGTG	0.642000													49	54					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472754	6472754	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6472754A>G	ENST00000358945.3	-	2	979	c.539T>C	c.(538-540)cTg>cCg	p.L180P	SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.L180P|SCNN1A_ENST00000360168.3_Missense_Mutation_p.L239P|SCNN1A_ENST00000543768.1_Missense_Mutation_p.L203P|SCNN1A_ENST00000228916.2_Missense_Mutation_p.L180P|SCNN1A_ENST00000540037.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	180					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGTCCCCCGCAGGTCGCGACG	0.687000													3	12					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308495	27308495	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:27308495G>A	ENST00000317338.12	-	2	1046	c.618C>T	c.(616-618)atC>atT	p.I206I	SEZ6_ENST00000442608.3_Silent_p.I206I|SEZ6_ENST00000335960.6_Silent_p.I206I|SEZ6_ENST00000360295.9_Silent_p.I206I|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	206						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTGGATCCCGATCCCTGCGC	0.607000													10	7					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408956	52408956	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:52408956C>T	ENST00000293662.4	+	8	1241	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Silent_p.S244S|GRASP_ENST00000380039.2_Silent_p.S244S	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	387						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCAACCGCTCCCTGGAGGAGG	0.642000													4	5					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129867244	129867244	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129867244A>G	ENST00000281142.5	-	16	1860	c.1357T>C	c.(1357-1359)Ttc>Ctc	p.F453L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	453						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GAAACCAGGAATCTTTGGTGC	0.353000													6	56					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60745779	60745779	+	Missense_Mutation	SNP	G	G	A	rs138320284	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:60745779G>A	ENST00000561114.1	-	9	1310	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTCCCCTTAGGGGAAAAAAAA	0.338000													15	48					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682309	108682309	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:108682309C>T	ENST00000232603.5	-	27	2833	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L	MORC1_ENST00000483760.1_Silent_p.L896L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	917					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAAGATTCTTCAGCTTATCCT	0.358000													29	105					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8966751	8966751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:8966751C>T	ENST00000397910.4	-	81	43405	c.43202G>A	c.(43201-43203)aGa>aAa	p.R14401K	MUC16_ENST00000380951.5_Missense_Mutation_p.R1042K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14499				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTCTACTCTCCGAGCCAG	0.552000													2	0					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70729523	70729523	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:70729523C>T	ENST00000261776.5	-	17	2219	c.1959G>A	c.(1957-1959)ggG>ggA	p.G653G	VAC14_ENST00000536184.2_Silent_p.G85G	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	653					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCCAGGTCCCCACTGGGTG	0.617000													13	36					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223803	10223803	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10223803G>A	ENST00000418404.3	-	24	3285	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	MYH13_ENST00000570743.1_Missense_Mutation_p.S1041F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S1041F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1041					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						CTGCTCTAAGGAACCCTCAAG	0.512000													6	3					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907878	43907878	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:43907878C>T	ENST00000314537.5	+	7	876	c.651C>T	c.(649-651)atC>atT	p.I217I	CRHR1_ENST00000398285.3_Silent_p.I246I|CRHR1_ENST00000577353.1_Silent_p.I217I|CRHR1_ENST00000339069.5_Silent_p.I116I|CRHR1_ENST00000293493.7_Silent_p.I42I|CRHR1_ENST00000352855.5_Silent_p.I177I	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	246					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACACAGCCATCGTGCTCACCT	0.617000													86	80					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058776	152058776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:152058776C>T	ENST00000368806.1	-	3	1446	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	461							calcium ion binding	p.G461E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GACTGCTGTTCCTTCAAGTTC	0.458000													265	158					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720501	95720501	+	RNA	SNP	T	T	C	rs12571819	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95720501T>C	ENST00000480546.1	-	0	796					NR_002319.2																						TCGCTCTTTCTGGGAAGCCCG	0.448000													4	52					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79805119	79805119	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:79805119C>T	ENST00000331483.4	-	5	951	c.729_splice	c.e5+1	p.Q243_splice	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Splice_Site_p.Q199_splice	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	243					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCAGCCGCACCTGCTCGGTGA	0.607000													59	126					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239377	83239377	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:83239377C>T	ENST00000296591.5	-	11	1722	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E	EDIL3_ENST00000380138.3_Missense_Mutation_p.G425E	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	435	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTCAAAATTTCCCTGGAAAAC	0.398000													19	43					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45511868	45511868	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:45511868C>T	ENST00000291574.4	+	19	3110	c.2935C>T	c.(2935-2937)Ctt>Ttt	p.L979F	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	979					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATAGTTATCTTGTAGATAC	0.383000													66	141					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121431465	121431465	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:121431465C>T	ENST00000257555.6	+	3	895	c.669C>T	c.(667-669)aaC>aaT	p.N223N	HNF1A_ENST00000544413.1_Silent_p.N223N|HNF1A_ENST00000402929.1_Silent_p.N223N|HNF1A_ENST00000541395.1_Silent_p.N223N|HNF1A_ENST00000543427.1_Silent_p.N106N|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.N223N			P20823	HNF1A_HUMAN	HNF1 homeobox A	223					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCAGAAGAACCCTAGCAAGG	0.597000									Hepatic Adenoma, Familial Clustering of				14	25					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1920400	1920400	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:1920400A>T	ENST00000434971.2	-	3	112	c.80T>A	c.(79-81)tTa>tAa	p.L27*				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	61										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGATCCTCTAATTCATCTCT	0.403000													16	36					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172099	81172099	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:81172099G>A	ENST00000394685.3	+	5	703	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R95Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R95Q			Q8WUJ3	K1199_HUMAN	KIAA1199	95	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTGTTTTGCGAACCCGGCAC	0.498000													36	45					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997545	118997545	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:118997545C>T	ENST00000328252.3	+	7	2730	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	787					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTGGAGTTCCTCTACCCCT	0.562000													32	45					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794288	6794288	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:6794288G>A	ENST00000297435.2	-	2	258	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	45					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCATGCAAAGGAAATAGATAT	0.557000													17	62					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783210	102783210	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:102783210G>A	ENST00000370215.3	-	4	750	c.525C>T	c.(523-525)tcC>tcT	p.S175S	PDZD7_ENST00000470414.1_Silent_p.S175S	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	175						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCTTCTCCTTGGAGAACTTGA	0.622000													16	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393755	179393755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179393755C>T	ENST00000589042.1	-	360	106947	c.106723G>A	c.(106723-106725)Gaa>Aaa	p.E35575K	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33934K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E33007K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26635K|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26510K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26702K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33934							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTGACTTCTTCAGAAATC	0.408000													42	39					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:1235772G>A	ENST00000324642.3	+	4	739	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572000													35	106					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28421699	28421699	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:28421699C>T	ENST00000261609.7	-	63	9669	c.9561G>A	c.(9559-9561)cgG>cgA	p.R3187R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3187					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTTCCGCCCCGGCCCAGTT	0.498000													80	65					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:100273819C>T	ENST00000515683.1	-	0	365				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000													26	107					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940171	113940171	+	Silent	SNP	C	C	T	rs139939908		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:113940171C>T	ENST00000245796.6	+	2	333	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000441564.2_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	46					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGCCTTTCGAGGAGCAAA	0.602000													37	50					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583450	82583450	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82583450G>A	ENST00000423517.2	-	5	7156	c.6819C>T	c.(6817-6819)atC>atT	p.I2273I	PCLO_ENST00000333891.8_Silent_p.I2273I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2204					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGATTCTATGATAGAAGATG	0.408000													119	89					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838089	74838089	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:74838089G>A	ENST00000358399.3	+	7	753	c.660G>A	c.(658-660)gaG>gaA	p.E220E	GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Silent_p.E146E|GDA_ENST00000238018.4_Silent_p.E220E	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	220					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCTGCTCTGAGACTTTGATGG	0.418000													44	41					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968910	99968910	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:99968910C>T	ENST00000298999.3	+	5	1342	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.H347Y|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ACATGTAAAGCACGAACCTCC	0.403000													18	177					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5210798	5210798	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:5210798G>A	ENST00000372412.4	-	34	5489	c.5256C>T	c.(5254-5256)atC>atT	p.I1752I	PTPRS_ENST00000587303.1_Silent_p.I1751I|PTPRS_ENST00000353284.2_Silent_p.I1304I|PTPRS_ENST00000348075.2_Silent_p.I1713I|PTPRS_ENST00000262963.6_Silent_p.I1731I|PTPRS_ENST00000592099.1_Silent_p.I1304I|PTPRS_ENST00000357368.4_Silent_p.I1751I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.I1713I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1751	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCTGTGTCGCGATGTAGGCCT	0.652000													6	25					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940247	36940247	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36940247T>C	ENST00000454319.1	-	5	1026	c.892A>G	c.(892-894)Aac>Gac	p.N298D	ZNF566_ENST00000434377.2_Missense_Mutation_p.N297D|ZNF566_ENST00000392170.2_Missense_Mutation_p.N298D|ZNF566_ENST00000424129.2_Missense_Mutation_p.N297D|ZNF566_ENST00000493391.1_Missense_Mutation_p.N193D	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGTAAAGTTTGAGCCACTA	0.403000													23	79					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466514	68466514	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:68466514C>T	ENST00000478136.1	+	3	693	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FAM19A1_ENST00000496687.1_Missense_Mutation_p.S68F|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	68						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GTAAAGTGTTCCTGTCTACCT	0.478000													40	58					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591206	125591206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:125591206G>A	ENST00000504087.1	-	4	4263	c.3226C>T	c.(3226-3228)Caa>Taa	p.Q1076*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.Q897*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1076										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CGTCCAAATTGATCAGCATGG	0.418000													89	55					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291249	62291249	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:62291249G>A	ENST00000258991.3	-	2	413	c.329C>T	c.(328-330)tCc>tTc	p.S110F	TEX2_ENST00000583097.1_Missense_Mutation_p.S110F|TEX2_ENST00000584379.1_Missense_Mutation_p.S110F			Q8IWB9	TEX2_HUMAN	testis expressed 2	110					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGTGTTCTTGGAGACGGGCAA	0.607000													105	190					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178687	213178687	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:213178687G>A	ENST00000366962.3	-	5	976	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ANGEL2_ENST00000535388.1_Silent_p.F105F|ANGEL2_ENST00000360506.2_Silent_p.F105F|ANGEL2_ENST00000540642.1_Silent_p.F148F|ANGEL2_ENST00000544555.1_Silent_p.F105F	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	274										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATCAGGGCGGAAGAATTCCA	0.433000													36	166					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424632	110424632	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110424632C>T	ENST00000378402.5	+	20	2328	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	742					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATTGTTTCCTTATAATCA	0.313000										HNSCC(38;0.096)			16	13					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246237	166246237	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166246237C>T	ENST00000357398.3	+	27	6211	c.5921C>T	c.(5920-5922)tCg>tTg	p.S1974L	SCN2A_ENST00000375427.2_Missense_Mutation_p.S1974L|SCN2A_ENST00000375437.2_Missense_Mutation_p.S1974L|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1974L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1974					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1974L(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCTCCACCCTCGTATGATAGT	0.373000													47	40					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143207	51143207	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:51143207C>T	ENST00000414786.2	+	15	1998	c.1771C>T	c.(1771-1773)Ccg>Tcg	p.P591S	SHANK3_ENST00000445220.2_Missense_Mutation_p.P606S|SHANK3_ENST00000262795.3_Missense_Mutation_p.P621S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	621										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCAGCCTTCCCGGCGCTGCA	0.677000													10	14					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50683953	50683953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:50683953G>A	ENST00000216271.5	-	20	2345	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	HDAC10_ENST00000448072.1_Missense_Mutation_p.P615S|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.P645S	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	665					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		accaggtgaggatggcactac	0.672000													14	13					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233160	233160	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:233160C>T	ENST00000382743.4	-	3	631	c.529G>A	c.(529-531)Gag>Aag	p.E177K	SIRT3_ENST00000532956.1_Missense_Mutation_p.E177K|SIRT3_ENST00000524564.1_Missense_Mutation_p.E113K|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000525319.1_Missense_Mutation_p.E96K|SIRT3_ENST00000529382.1_Missense_Mutation_p.E35K	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	177	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		AAAATGGCCTCGGGGTACGGG	0.542000													27	6					0	0	1	0	0
LCN10	414332	broad.mit.edu	37	9	139636463	139636463	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139636463A>G	ENST00000497771.1	-	2	182	c.127T>C	c.(127-129)Ttc>Ctc	p.F43L	LCN6_ENST00000435202.1_3'UTR|LCN6_ENST00000480584.1_Intron|LCN10_ENST00000527229.1_Missense_Mutation_p.F43L|LCN10_ENST00000474369.1_Missense_Mutation_p.F43L	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	43					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		ATGTACCAGAACCCTGAAAAC	0.622000													4	8					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000													22	25					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25103408	25103408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:25103408C>T	ENST00000382542.1	-	1	65	c.61G>A	c.(61-63)Gga>Aga	p.G21R	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_5'UTR|GZMB_ENST00000216341.4_5'UTR|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_5'UTR			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	0	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CTGTTGTTTCCTCCTTGCTCT	0.532000													3	6					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393438	124393438	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:124393438A>G	ENST00000360013.3	+	49	7297	c.7170A>G	c.(7168-7170)gcA>gcG	p.A2390A	KALRN_ENST00000393496.1_Silent_p.A730A|KALRN_ENST00000428018.2_Silent_p.A661A|KALRN_ENST00000459915.1_Silent_p.A481A|KALRN_ENST00000291478.4_Silent_p.A693A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2389					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCACAGCAGCAGAAAGTAGTG	0.547000													4	13					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223369	35223369	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:35223369C>T	ENST00000338513.1	+	2	611	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	146					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCGCCTTTCTCTATGTGTTCC	0.547000													36	109					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577848	9577848	+	Missense_Mutation	SNP	C	C	T	rs149138221		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9577848C>T	ENST00000301480.4	-	10	1988	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R592Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTGTCTTCGTAAATGTTT	0.408000													95	101					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478641	85478641	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:85478641C>T	ENST00000394573.1	+	15	1675	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	SLC28A1_ENST00000537624.1_Silent_p.I491I|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.I491I|SLC28A1_ENST00000537216.1_Silent_p.I491I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	491					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTGGGGATCAAGCTGTTTC	0.597000													28	79					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686654	53686654	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53686654C>T	ENST00000257934.4	+	30	6152	c.6061C>T	c.(6061-6063)Cgg>Tgg	p.R2021W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R2021W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2021					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTGAGCTGTCGGGCAGTGGC	0.617000													25	34					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939834	22939834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:22939834C>T	ENST00000397104.3	-	6	2496	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAC	0.368000													49	31					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151730	160151730	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:160151730T>A	ENST00000368081.4	+	20	3349	c.2878T>A	c.(2878-2880)Tta>Ata	p.L960I	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L96I|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	960					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAAAGTCTTAATATTTGG	0.527000													184	98					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547413	98547413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:98547413C>T	ENST00000359863.4	+	36	5272	c.5063C>T	c.(5062-5064)aCc>aTc	p.T1688I	TRRAP_ENST00000355540.3_Missense_Mutation_p.T1670I|TRRAP_ENST00000446306.3_Missense_Mutation_p.T1669I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1688					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGCAGCCACCAACTGGAAG	0.622000													38	20					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	108969862	108969862	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:108969862G>T	ENST00000379951.2	-	10	2315	c.1127C>A	c.(1126-1128)aCc>aAc	p.T376N	LEF1_ENST00000265165.1_3'UTR|LEF1_ENST00000438313.2_3'UTR|LEF1_ENST00000510624.1_3'UTR|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	0	Poly-Lys.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGTCCTGGGGTCGCTGCCTT	0.483000													29	16					8.4185e-14	8.56724e-14	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258263	25258263	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:25258263G>A	ENST00000328086.7	-	5	2057	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	418					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTCCTCAAAGAAGGCGCAGG	0.493000													52	134					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988879	103988879	+	Missense_Mutation	SNP	G	G	A	rs140986921		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:103988879G>A	ENST00000370005.3	+	4	904	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	228					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CAGGATCAGGGATGCCACACC	0.512000													14	26					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53671347C>T	ENST00000257934.4	+	10	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R727C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000													44	32					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360014	74360014	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:74360014G>A	ENST00000377044.4	-	4	1493	c.954C>T	c.(952-954)gcC>gcT	p.A318A	TMEM2_ENST00000377066.5_Silent_p.A318A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	318						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GACTTTTAGCGGCTGAATCCC	0.507000													72	64					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652399	211652399	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:211652399G>A	ENST00000367002.4	-	3	1730	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	189					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGGCGCCCGGAATTCGGGCA	0.706000													16	8					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407648	2407648	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:2407648G>A	ENST00000381223.4	-	2	1316	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.I371I|ZBED1_ENST00000381222.2_Silent_p.I371I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	371						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACCCCGGCGATGACGAACT	0.652000													21	10					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062447	46062447	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:46062447G>A	ENST00000309285.3	-	2	1349	c.993C>T	c.(991-993)tcC>tcT	p.S331S	XCR1_ENST00000542109.1_Silent_p.S331S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	331					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCAGTAGAAGGAGGCGCCCT	0.642000													5	9					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637193	2637193	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:2637193C>A	ENST00000329276.5	+	9	1673	c.1157C>A	c.(1156-1158)tCt>tAt	p.S386Y	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	386	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGCTTCTCTGGTATGGGT	0.552000													32	42					1.08312e-15	1.10617e-15	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165947432	165947432	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:165947432G>A	ENST00000360093.3	-	28	5722	c.5231C>T	c.(5230-5232)cCa>cTa	p.P1744L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P1744L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1695L|SCN3A_ENST00000540861.1_Missense_Mutation_p.P227L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1744						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCCAACAGATGGGTTCCCACA	0.473000													16	222					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158223	139158223	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:139158223G>A	ENST00000395297.1	-	15	3689	c.3519C>T	c.(3517-3519)ttC>ttT	p.F1173F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1173										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACATTAGGAAGTCCAGTT	0.438000										HNSCC(54;0.14)			7	58					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41061705	41061705	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41061705C>T	ENST00000399564.4	-	6	1032	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCCACTTCTCCATTATATACC	0.483000													38	109					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279259	16279259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:16279259G>A	ENST00000343518.6	-	4	1015	c.964C>T	c.(964-966)Cag>Tag	p.Q322*		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	322										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCACTTGCTGTTTTTGCTCA	0.323000													20	617					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247509	149247509	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:149247509C>T	ENST00000407073.1	+	12	4606	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	MBD5_ENST00000404807.1_Silent_p.P1436P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1203						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGCAAAGCCCCAGAGGGGAGC	0.468000													47	121					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12858340	12858340	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:12858340C>T	ENST00000591090.1	+	7	951	c.849C>T	c.(847-849)ccC>ccT	p.P283P	ASNA1_ENST00000357332.3_Silent_p.P283P			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	283					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TCGTCTTCCCCGACCCCGAGA	0.562000													11	31					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43571759	43571759	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:43571759G>A	ENST00000372813.3	-	7	1073	c.921C>T	c.(919-921)aaC>aaT	p.N307N	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	307					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTTAGTGTAGGTTCTGCTTCA	0.527000													18	26					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:106692098G>A	ENST00000390607.2	-	0	105																											TAGCAACAAGGAAAACCCAGC	0.483000													26	123					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50550613	50550613	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:50550613C>T	ENST00000267845.3	-	3	708	c.306G>A	c.(304-306)ttG>ttA	p.L102L	HDC_ENST00000543581.1_Silent_p.L102L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	102					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGGTGAATCCCAAGCAGTTGA	0.542000													10	16					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272529	44272529	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:44272529C>T	ENST00000244571.4	-	12	1607	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	535					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACAGTTGCAACACCTGGGCCT	0.612000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381466	81381466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:81381466C>T	ENST00000222390.5	-	5	821	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	HGF_ENST00000457544.2_Missense_Mutation_p.E194K|HGF_ENST00000444829.2_Missense_Mutation_p.E199K|HGF_ENST00000423064.2_Missense_Mutation_p.E199K|HGF_ENST00000453411.1_Missense_Mutation_p.E194K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E199K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACAGACTTCGTAGCGTACC	0.468000													39	76					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													106	221					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409786	79409786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:79409786C>T	ENST00000307745.7	+	9	1411	c.1411C>T	c.(1411-1413)Ctc>Ttc	p.L471F																								CCTCGACTATCTCAGCAGCGC	0.652000													26	14					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977543	178977543	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:178977543C>T	ENST00000286070.5	+	1	362	c.270C>T	c.(268-270)tgC>tgT	p.C90C		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ATGGCCAGTGCCTCGGCCCCA	0.657000													22	56					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947259	37947259	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:37947259G>A	ENST00000373087.6	+	4	757	c.641G>A	c.(640-642)cGa>cAa	p.R214Q		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	214					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACACCATCACGACGCGTGGGT	0.587000													95	65					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885802	88885802	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:88885802G>A	ENST00000319675.3	-	1	494	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	133										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATTCAGTGAGGCCCAGCACAT	0.562000													24	71					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176147	112176147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:112176147C>T	ENST00000457016.1	+	16	5236	c.4856C>T	c.(4855-4857)cCa>cTa	p.P1619L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1619L|APC_ENST00000257430.4_Missense_Mutation_p.P1619L			P25054	APC_HUMAN	adenomatous polyposis coli	1619	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAACTTCTACCATCACAAAAC	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			96	74					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652936	121652936	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:121652936C>T	ENST00000393386.2	+	12	4247	c.3836C>T	c.(3835-3837)tCc>tTc	p.S1279F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1279					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTGAAAGTTCCCACCAAGTG	0.418000													44	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071280	9071280	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9071280G>A	ENST00000397910.4	-	3	16369	c.16166C>T	c.(16165-16167)aCc>aTc	p.T5389I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5391	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAACTGGTTACAGACTC	0.512000													159	162					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453192	195453192	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:195453192C>T	ENST00000320736.6	+	3	1331	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	MUC20_ENST00000447234.2_Missense_Mutation_p.S573F|MUC20_ENST00000436408.1_Missense_Mutation_p.S573F|MUC20_ENST00000445522.2_Missense_Mutation_p.S538F	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	573					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCTTCCTCCTACAGCCCC	0.587000													12	49					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81636269	81636269	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:81636269C>T	ENST00000558726.1	-	14	1774	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E546K|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	546						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AACTTGCTCTCCAGATCCCAA	0.453000													8	24					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357016	49357016	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49357016C>T	ENST00000263265.6	-	12	1804	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G392R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	417						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAGGCCCTCCCGGGAGCCCCA	0.647000													13	9					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468963	56468963	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:56468963G>A	ENST00000288221.6	-	2	328	c.73C>T	c.(73-75)Cct>Tct	p.P25S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	25						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCCAAACGAGGAGACCTTGGC	0.483000													11	45					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137238	1137238	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:1137238G>A	ENST00000397203.2	+	2	575	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ERC1_ENST00000360905.4_Missense_Mutation_p.E57K|ERC1_ENST00000543086.3_Missense_Mutation_p.E57K|ERC1_ENST00000589028.1_Missense_Mutation_p.E57K|ERC1_ENST00000546231.2_Missense_Mutation_p.E57K|ERC1_ENST00000355446.5_Missense_Mutation_p.E57K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	57					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTTTCAATGGAAAATATACA	0.493000													27	65					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285528	7285528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:7285528G>A	ENST00000361972.4	-	9	1202	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P371L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	371					regulation of transcription, DNA-dependent	nucleus		p.P371L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACCTTTGGGAGGAGTGAGGCT	0.468000													19	45					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170345817	170345817	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:170345817C>T	ENST00000523189.1	+	10	1219	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	352					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGGAATATCCTGAAGTTATT	0.323000			T	TRD@	ALL								20	32					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677357	64677357	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:64677357G>A	ENST00000421419.2	-	14	2017	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	ATG2A_ENST00000377264.3_Missense_Mutation_p.R635W			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	635							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCAGAGAGCCGAAATACCGTC	0.711000													17	14					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34046353	34046353	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34046353C>T	ENST00000373381.4	-	48	7563	c.7387_splice	c.e48+1	p.A2463_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2465	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCACTCACCTGAATAGCGG	0.532000													17	66					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545975	234545975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234545975G>A	ENST00000344644.5	+	1	876	c.807G>A	c.(805-807)atG>atA	p.M269I	UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269I|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGCCCAACATGATCTTCATTG	0.428000													269	308					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001351	52001351	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:52001351C>T	ENST00000291707.3	-	5	1381	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	SIGLEC12_ENST00000598614.1_Silent_p.G324G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGTGAATTCCCCTTCATCCT	0.612000													9	33					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005573	101005573	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:101005573G>A	ENST00000556751.1	-	5	3727	c.323C>T	c.(322-324)cCg>cTg	p.P108L	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P172L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P172L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	172						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGTAGGCCGGGTGGCAGAG	0.701000													4	19					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324415	31324415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:31324415C>T	ENST00000269197.5	+	12	4603	c.4603C>T	c.(4603-4605)Cac>Tac	p.H1535Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGTATAGATCACAGTTCCAC	0.527000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319301	123319301	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:123319301G>A	ENST00000275162.4	+	2	1714	c.379G>A	c.(379-381)Gat>Aat	p.D127N	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	127	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGCCAATTGGGATCAGAGCAG	0.468000													34	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438160	179438160	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179438160A>G	ENST00000589042.1	-	326	72923	c.72699T>C	c.(72697-72699)acT>acC	p.T24233T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T22592T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.T21665T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.T15293T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T15168T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T15360T|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22592	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGTAATAGTTGTCACTT	0.458000													45	103					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169423093	169423093	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:169423093C>T	ENST00000256935.8	+	30	3077	c.2997C>T	c.(2995-2997)gtC>gtT	p.V999V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.V60V|DOCK2_ENST00000520908.1_Silent_p.V491V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	999	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGGGTCTTCCTGAGAG	0.458000													29	24					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198273222	198273222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:198273222C>A	ENST00000335508.5	-	8	1079	c.988G>T	c.(988-990)Gga>Tga	p.G330*		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	330	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTACTGGCTCCAGGAGTCGGT	0.493000			Mis		myelodysplastic syndrome								44	71					9.84934e-19	1.00708e-18	1	1	0
ZMYM1	79830	broad.mit.edu	37	1	35577697	35577697	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:35577697C>T	ENST00000373330.1	+	10	1286	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S371F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	371						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATACAGTTTCTTCAGTAACA	0.269000													70	37					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415364	71415364	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:71415364G>A	ENST00000392650.3	-	16	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	SDK2_ENST00000388726.3_Silent_p.I709I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	709	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTGCCACTGGATCATGATGG	0.612000													7	20					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114123243	114123243	+	Silent	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:114123243G>T	ENST00000369615.1	+	3	575	c.513G>T	c.(511-513)ctG>ctT	p.L171L	MAGI3_ENST00000307546.9_Silent_p.L171L|MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Silent_p.L171L|MAGI3_ENST00000369611.4_Silent_p.L171L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	171	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGCACTGGAAGAGAGTG	0.398000													88	67					1.7318e-42	1.78767e-42	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71218810	71218810	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:71218810C>T	ENST00000393567.2	-	3	369	c.219G>A	c.(217-219)caG>caA	p.Q73Q	HYDIN_ENST00000321489.5_Silent_p.Q73Q|HYDIN_ENST00000393550.2_Silent_p.Q73Q|HYDIN_ENST00000288168.10_Silent_p.Q90Q|HYDIN_ENST00000448089.2_Silent_p.Q73Q|HYDIN_ENST00000541601.1_Silent_p.Q90Q|HYDIN_ENST00000448691.1_Silent_p.Q73Q|HYDIN_ENST00000538248.1_Silent_p.Q100Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	73										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCGATGATCTGTGGTCGGC	0.458000													34	88					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387881	120387881	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:120387881G>A	ENST00000331113.4	+	6	2827	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	621					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAGTACTCAGGAGGAAATATT	0.423000													47	26					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044091	35044091	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:35044091G>A	ENST00000312292.5	+	2	1512	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	C9orf131_ENST00000421362.2_Missense_Mutation_p.G441R|C9orf131_ENST00000354479.5_Missense_Mutation_p.G416R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	489										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGCCCCCAGGGAGTCCTGTC	0.537000													68	24					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91365699	91365699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:91365699G>A	ENST00000261172.3	-	5	672	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	194					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ACAAGCTCTCGAAGTTGAGGC	0.373000													23	16					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652558	101652558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:101652558G>A	ENST00000409318.1	-	9	1655	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R494C	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	494	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTCTGTGCGAAACATACAC	0.468000													61	141					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947433	165947433	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:165947433G>A	ENST00000360093.3	-	28	5721	c.5230C>T	c.(5230-5232)Cca>Tca	p.P1744S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P1744S|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1695S|SCN3A_ENST00000540861.1_Missense_Mutation_p.P227S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1744						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAACAGATGGGTTCCCACAG	0.478000													17	220					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108352044	108352044	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:108352044C>T	ENST00000434945.2	-	4	1095	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KDELC2_ENST00000375648.1_Missense_Mutation_p.E265K|KDELC2_ENST00000323468.5_Missense_Mutation_p.E321K|KDELC2_ENST00000532730.1_Intron			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	321						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGGAGCCTCTCCTCTCGGCTG	0.408000													71	30					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637291	39637291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:39637291C>T	ENST00000393989.1	-	1	101	c.59G>A	c.(58-60)gGg>gAg	p.G20E	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	20	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCACTGGCCCCTCCTGGGCT	0.577000													38	55					0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436231	2436231	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:2436231G>A	ENST00000469908.1	+	0	1486					NR_003574.1																						GCTCTCCATCGGCATCGCCCT	0.657000													26	33					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753769	38753769	+	Silent	SNP	C	C	T	rs149883899	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38753769C>T	ENST00000449082.2	-	22	3971	c.3972G>A	c.(3970-3972)tcG>tcA	p.S1324S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1324					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TATTCACAATCGACAAAGGTA	0.443000													80	72					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279029	36279029	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36279029T>G	ENST00000007510.4	+	21	3706	c.3562T>G	c.(3562-3564)Tcc>Gcc	p.S1188A	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1024A|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1027A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1188	Poly-Ser.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCTCCTCTTCCCCTCCTGC	0.687000													20	26					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006368	16006368	+	Silent	SNP	G	G	A	rs139580343	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:16006368G>A	ENST00000221700.5	-	3	386	c.291C>T	c.(289-291)ccC>ccT	p.P97P	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	97					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACTGAGGAGGGGGGAGATGG	0.592000													47	132					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081855	54081855	+	Silent	SNP	G	G	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:54081855G>C	ENST00000394705.2	-	2	309	c.39C>G	c.(37-39)gcC>gcG	p.A13A	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	13						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAGCGAGGTGGCATTGGGGG	0.532000													39	109					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364799	100364799	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100364799C>T	ENST00000542585.1	+	0	4927				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGGGGGGATCCTGGAGGTCT	0.577000													33	29					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904021	56904021	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:56904021C>T	ENST00000438926.2	+	5	644	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC12A3_ENST00000566786.1_Silent_p.F204F|SLC12A3_ENST00000262502.5_Silent_p.F204F|SLC12A3_ENST00000563236.1_Silent_p.F205F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	205					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCACCTACTTCCTCATCTCCC	0.627000													26	93					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156934110	156934110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:156934110G>A	ENST00000257527.4	-	10	1022	c.944C>T	c.(943-945)cCc>cTc	p.P315L	ADAM19_ENST00000517905.1_Missense_Mutation_p.P315L|ADAM19_ENST00000430702.2_Missense_Mutation_p.P48L|ADAM19_ENST00000394020.1_Missense_Mutation_p.P317L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	315	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCATGAGGGGGGCCAGGCC	0.617000													34	40					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41744430	41744430	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:41744430C>T	ENST00000301178.4	+	8	1240	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	AXL_ENST00000593513.1_Silent_p.F82F|AXL_ENST00000359092.3_Silent_p.F350F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	350	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCCAGGCCTTCGTGCATTGGC	0.657000													13	29					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216371	20216371	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20216371C>A	ENST00000331723.1	+	1	785	c.785C>A	c.(784-786)cCt>cAt	p.P262H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTGAGGCCTTTCTGCAGC	0.458000													15	179					1.37285e-15	1.40041e-15	1	1	0
UTP11L	51118	broad.mit.edu	37	1	38489261	38489261	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:38489261C>T	ENST00000373014.4	+	8	784	c.723C>T	c.(721-723)tcC>tcT	p.S241S	UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	241				S -> F (in Ref. 2; AAF75562).	induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGTGAACTCCCCAGCTATTT	0.348000													67	44					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094763	6094763	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6094763G>A	ENST00000261405.5	-	39	7121	c.6867C>T	c.(6865-6867)gtC>gtT	p.V2289V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2289	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGTGCAGTTGACCTTCCGCC	0.642000													5	20					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236282	33236282	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:33236282C>T	ENST00000401073.2	+	6	1572	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.P453L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P442L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	442	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCACCCCCTCCCCGCCGGACC	0.647000													8	21					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662995	40662995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:40662995C>T	ENST00000454349.2	+	5	2972	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.R921*|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	921					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCCAGCACCTCGAGAACCAAA	0.478000													6	20					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146032131	146032131	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:146032131C>T	ENST00000296577.4	+	8	1140	c.625C>T	c.(625-627)Cta>Tta	p.L209L	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	209	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTAACCCACCTAAAAGAACG	0.373000													55	44					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937721	12937721	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:12937721G>A	ENST00000218032.6	+	2	649	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TLR8_ENST00000311912.5_Missense_Mutation_p.E206K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	188					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAAGTTTGCGAGAAAACTAA	0.348000													62	9					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528438	20528438	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20528438C>T	ENST00000315683.1	+	1	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCCACAACACCCAAGATGAT	0.473000													126	95					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240020	125240020	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125240020G>A	ENST00000259357.2	-	1	215	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGTGGCTAAGGAAGAAGTACA	0.527000													82	88					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762529	43762529	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:43762529C>T	ENST00000244293.7	-	4	855	c.789G>A	c.(787-789)acG>acA	p.T263T	PSG9_ENST00000593948.1_Silent_p.T263T|PSG9_ENST00000443718.3_Silent_p.T263T|PSG9_ENST00000291752.5_Silent_p.T170T|PSG9_ENST00000270077.3_Silent_p.T356T|PSG9_ENST00000596730.1_Silent_p.T170T|PSG9_ENST00000418820.2_Silent_p.T263T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	261	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTTAGATTCCGTGAAGCAGG	0.438000													70	227					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6969551	6969551	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6969551C>T	ENST00000229268.8	+	11	1292	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	USP5_ENST00000389231.5_Missense_Mutation_p.P414S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	414					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGCATTGCCCCTCGGATGTT	0.572000													20	61					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906979	139906979	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139906979G>A	ENST00000265662.5	-	32	5292	c.5145C>T	c.(5143-5145)gcC>gcT	p.A1715A	ABCA2_ENST00000371605.3_Silent_p.A1714A|ABCA2_ENST00000341511.6_Silent_p.A1715A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1714					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCATGGGTGGGGCCCTGGTGC	0.687000													16	29					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843393	227843393	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:227843393G>A	ENST00000343776.4	+	4	1787	c.1442G>A	c.(1441-1443)aGa>aAa	p.R481K	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R536K			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	536					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CGTCATAAAAGAATTCATACT	0.353000													72	45					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526522	234526522	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234526522G>T	ENST00000373450.4	+	1	232	c.169G>T	c.(169-171)Gta>Tta	p.V57L		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAGGTGGTTGTAGTCATGCC	0.522000													95	121					7.79919e-48	8.06041e-48	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103471393	103471393	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:103471393C>T	ENST00000358392.2	-	18	2199		c.e18+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGTATCTTACCCTGTGACCT	0.338000													116	72					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193200	152193200	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:152193200C>T	ENST00000368801.2	-	3	980	c.905G>A	c.(904-906)gGa>gAa	p.G302E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	302					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCGAGATCCAGACCCTTG	0.602000													223	119					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157511279	157511279	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:157511279T>C	ENST00000346085.5	+	15	3798	c.3797T>C	c.(3796-3798)aTg>aCg	p.M1266T	ARID1B_ENST00000350026.5_Missense_Mutation_p.M1253T|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1248T|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1306T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1253					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCATGAGCATGCCCGATGTG	0.567000													9	118					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920197	108920197	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:108920197C>T	ENST00000228284.3	-	16	2283	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	SART3_ENST00000431469.2_Silent_p.E647E	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	683					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCTGCCTTCTCCTTCTGCT	0.577000									Porokeratosis				22	71					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68111238	68111238	+	Silent	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:68111238A>G	ENST00000262215.3	-	39	5870	c.5481T>C	c.(5479-5481)ttT>ttC	p.F1827F	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1827					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)			CGATTCGCAGAAAAAATCTTC	0.358000													20	80					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862219	25862219	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:25862219G>A	ENST00000397060.4	-	4	451	c.342C>T	c.(340-342)atC>atT	p.I114I	SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CACCAAAGATGATGCCTTGGA	0.453000													5	14					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972550	40972550	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:40972550A>G	ENST00000313164.9	+	15	2287	c.1928A>G	c.(1927-1929)cAc>cGc	p.H643R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	643	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATACAGAGTCACCCCCAAAAA	0.443000													19	55					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084082	31084082	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:31084082G>A	ENST00000376288.2	-	2	1336	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	437	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						ACTGGATTGGGAACTGGAGCT	0.592000													5	21					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79411977	79411977	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:79411977C>T	ENST00000370742.3	-	3	370	c.307G>A	c.(307-309)Gat>Aat	p.D103N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	103	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACGGTTCCATCATTAGTGATA	0.358000													19	77					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103803508	103803508	+	Missense_Mutation	SNP	G	G	A	rs137964558		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:103803508G>A	ENST00000216554.3	+	6	1059	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.R128Q|EIF5_ENST00000558506.1_Missense_Mutation_p.R128Q	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	128					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGTGGCTATCGAGGCATGCTT	0.363000													21	69					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135439	126135439	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:126135439C>T	ENST00000299308.3	+	7	1847	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	TMEM132B_ENST00000535886.1_Silent_p.I125I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	613						integral to membrane		p.I613I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCGAAAATCGCTCAGTTAC	0.592000													11	38					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766382	88766382	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:88766382C>T	ENST00000497649.2	+	6	668	c.290C>T	c.(289-291)aCt>aTt	p.T97I	MEPE_ENST00000560249.1_Missense_Mutation_p.T8I|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.T121I|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.T121I|MEPE_ENST00000395102.4_Missense_Mutation_p.T152I|MEPE_ENST00000540395.1_Missense_Mutation_p.T8I			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	121					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTAAGTCAACTGGGAATAAA	0.358000													23	84					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809577	809577	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:809577C>T	ENST00000446136.1	-	0	1116					NR_027055.1																						CAAGGCCTTCCTCCATTGGTA	0.498000													47	195					0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149777834	149777834	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:149777834C>T	ENST00000389942.5	-	4	895	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ZC3H12D_ENST00000542614.1_Silent_p.Q216Q|ZC3H12D_ENST00000416573.2_Silent_p.Q216Q|ZC3H12D_ENST00000409806.3_Silent_p.Q216Q			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	216						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGAGCAGCCTCTGCTCGATGA	0.667000													19	43					0	0	1	0	0
C20orf166	128826	broad.mit.edu	37	20	61167716	61167716	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:61167716C>T	ENST00000370527.3	+	4	965	c.186C>T	c.(184-186)ctC>ctT	p.L62L	C20orf166_ENST00000370523.1_Silent_p.L44L|C20orf166_ENST00000370524.2_Silent_p.L44L	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	62										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			AAATTCTTCTCTTTGTCAATG	0.483000													19	23					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818659	166818659	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:166818659C>T	ENST00000367875.1	+	5	1203	c.843C>T	c.(841-843)acC>acT	p.T281T	POGK_ENST00000536514.1_Silent_p.T196T|POGK_ENST00000537173.1_Silent_p.T163T|POGK_ENST00000367876.4_Silent_p.T281T			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	281	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ACCCCATCACCCGGGAGGCGA	0.557000													20	65					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834553	156834553	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156834553G>A	ENST00000368196.3	+	3	441	c.321G>A	c.(319-321)gcG>gcA	p.A107A	NTRK1_ENST00000524377.1_Silent_p.A107A|NTRK1_ENST00000392302.2_Silent_p.A77A|NTRK1_ENST00000358660.3_Silent_p.A107A	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	107			A -> V (in an ovarian serous carcinoma sample; somatic mutation).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTTTCGTGGCGCCAGATGCCT	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	37					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	27					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647337	20647337	+	Silent	SNP	C	C	T	rs140649204	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:20647337C>T	ENST00000272233.4	+	1	503	c.111C>T	c.(109-111)acC>acT	p.T37T		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	37					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGTGCCCACCGTCTTCGAGA	0.647000													36	59					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1538236	1538236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1538236C>T	ENST00000381623.3	-	1	1253	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E22K|RP4-576H24.4_ENST00000564763.1_Intron			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	22						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCTGCCAGTTCAAGCAGCAGA	0.542000													38	51					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167053	76167053	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:76167053C>T	ENST00000225777.3	+	2	314	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Silent_p.F85F|SYNGR2_ENST00000588282.1_Silent_p.F85F|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Silent_p.F29F			O43760	SNG2_HUMAN	synaptogyrin 2	85	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCCTTCTTCTTGGTGGTCG	0.587000													54	122					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130762252	130762252	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:130762252G>A	ENST00000276708.4	-	12	2078	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	399						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGCTTCAAGGAGATAAAGAA	0.458000													9	24					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150443209	150443209	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:150443209G>A	ENST00000389378.2	-	3	824	c.236C>T	c.(235-237)tCc>tTc	p.S79F	TNIP1_ENST00000518977.1_Missense_Mutation_p.S79F|TNIP1_ENST00000523200.1_Missense_Mutation_p.S79F|TNIP1_ENST00000315050.7_Missense_Mutation_p.S79F|TNIP1_ENST00000524280.1_Missense_Mutation_p.S79F|TNIP1_ENST00000523338.1_Missense_Mutation_p.S79F|TNIP1_ENST00000522226.1_Missense_Mutation_p.S79F|TNIP1_ENST00000520931.1_Missense_Mutation_p.S26F|TNIP1_ENST00000521591.1_Missense_Mutation_p.S79F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	79					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCCCAAGGAGGGAGAAGG	0.582000													10	37					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20611688	20611688	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20611688G>A	ENST00000504154.1	+	34	3997	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	SLIT2_ENST00000273739.5_Missense_Mutation_p.D1262N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1241N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1245N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1249	Laminin G-like.				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						ACTTGCCTTGGATCAGAGTCT	0.408000													90	45					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583745	82583745	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82583745G>A	ENST00000423517.2	-	5	6861	c.6524C>T	c.(6523-6525)tCt>tTt	p.S2175F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2175F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2106					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTGGGACAGATGTAGCACT	0.438000													76	50					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854808	79854808	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:79854808G>A	ENST00000338682.3	-	5	1703	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	344						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GTTAGAATCTGGGTCCTGGTC	0.408000													20	55					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150049259	150049259	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:150049259C>T	ENST00000369130.3	+	6	1072	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	176					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCATGATTCGTTATCAGCT	0.428000													38	137					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72691188	72691188	+	Silent	SNP	C	C	T	rs142190891	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:72691188C>T	ENST00000341689.3	+	2	330	c.276C>T	c.(274-276)taC>taT	p.Y92Y	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	92						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGAGCTCTACGCAGGACTCT	0.537000													50	54					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105843125	105843125	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:105843125C>T	ENST00000447393.1	+	9	997	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PACS2_ENST00000458164.2_Silent_p.D274D|PACS2_ENST00000325438.8_Silent_p.D274D|PACS2_ENST00000547217.1_Silent_p.D244D|PACS2_ENST00000430725.2_Silent_p.D199D	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	274					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGGAGCAGGACCCTGCGGAGC	0.677000													9	28					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967638	4967638	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4967638G>A	ENST00000380373.2	-	1	718	c.693C>T	c.(691-693)tcC>tcT	p.S231S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCTTTTTGGATGCAATTC	0.453000													53	22					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1281305	1281305	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1281305C>T	ENST00000381867.1	+	6	1032	c.390C>T	c.(388-390)atC>atT	p.I130I	SNPH_ENST00000381873.3_Silent_p.I86I			O15079	SNPH_HUMAN	syntaphilin	86					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGGTGTGCATCCGGCACCTGA	0.657000													18	23					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356795	42356795	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:42356795C>T	ENST00000554171.1	+	5	3399	c.967C>T	c.(967-969)Cct>Tct	p.P323S	LRFN5_ENST00000298119.4_Missense_Mutation_p.P323S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P323S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	323	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGGATTTCTCCTGAAGGGAA	0.453000										HNSCC(30;0.082)			75	53					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239411	65239411	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:65239411C>T	ENST00000389722.3	-	25	5493	c.5440G>A	c.(5440-5442)Gac>Aac	p.D1814N	SPTB_ENST00000389721.5_Missense_Mutation_p.D1814N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1814N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1814N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1814N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1814					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCTTCTCGTCGATGAGGCCC	0.662000													13	35					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81700486	81700486	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:81700486C>T	ENST00000372292.3	-	7	766	c.726G>A	c.(724-726)caG>caA	p.Q242Q		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	242					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGAAAGCAGCCTGGAGGTGCT	0.522000													16	31					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106989481	106989481	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:106989481C>T	ENST00000369066.3	+	8	4129	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	AIM1_ENST00000535438.1_Silent_p.F33F	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1214							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGTTGAATTCCCTACAGATC	0.264000													33	25					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240315	3240315	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:3240315C>T	ENST00000355072.5	+	65	9178	c.9033C>T	c.(9031-9033)ttC>ttT	p.F3011F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3011					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCCCCAGTTCATGGCCACCG	0.557000													38	27					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382136	41382136	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41382136C>T	ENST00000377801.3	-	2	678	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.E202K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	202					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGGGCACTTCCAGAGCCACT	0.507000													44	51					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428870	10428870	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10428870C>T	ENST00000245503.5	-	32	4819	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1479K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1479					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAACGGGCCTCCTTCTGGGAG	0.468000													47	19					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35422879	35422879	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:35422879G>A	ENST00000237536.4	-	14	3947	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	SOGA1_ENST00000456801.2_Silent_p.S805S|SOGA1_ENST00000357779.3_Silent_p.S964S|SOGA1_ENST00000279034.5_Silent_p.S964S	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	964								p.S1202S(3)|p.S964S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCCCTGGCTCGGAGCTCACAA	0.607000													41	36					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003875	50003875	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:50003875A>G	ENST00000335238.4	-	1	196	c.163T>C	c.(163-165)Tcc>Ccc	p.S55P		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TACATGGGGGAGCTCAGAGCC	0.423000													34	12					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005574	101005574	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:101005574G>A	ENST00000556751.1	-	5	3726	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P172S|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P172S			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	172						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCGTAGGCCGGGTGGCAGAGC	0.701000													4	20					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696738	176696738	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176696738C>T	ENST00000439151.2	+	16	5484	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	NSD1_ENST00000361032.4_Silent_p.F1710F|NSD1_ENST00000354179.4_Silent_p.F1544F|NSD1_ENST00000347982.4_Silent_p.F1544F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1813	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCGAGTCTTCCCTTACATGG	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			54	43					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173782552	173782552	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:173782552G>A	ENST00000264111.6	+	5	654	c.467G>A	c.(466-468)gGa>gAa	p.G156E	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G156E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G156E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G12E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	156					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATATGGCAGGACTTCTGGCT	0.348000													96	115					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493499	20493499	+	Silent	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20493499T>C	ENST00000504154.1	+	9	1143	c.891T>C	c.(889-891)aaT>aaC	p.N297N	SLIT2_ENST00000273739.5_Silent_p.N301N|SLIT2_ENST00000503823.1_Silent_p.N297N|SLIT2_ENST00000503837.1_Silent_p.N301N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	297	LRRNT 2.				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						TCCCCACAAATCTTCCAGAGA	0.463000													33	98					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	369886	369886	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:369886C>T	ENST00000256509.2	+	5	876	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CHL1_ENST00000397491.2_Silent_p.F78F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	78	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTTTATTTCACTGACCATC	0.363000													31	105					0	0	1	0	0
RPS18	6222	broad.mit.edu	37	6	33240442	33240442	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:33240442G>T	ENST00000439602.2	+	2	151	c.41G>T	c.(40-42)cGa>cTa	p.R14L	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	14					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CATATTTTGCGAGTACTCAAC	0.428000													35	99					9.04072e-19	9.25495e-19	1	1	0
MPI	4351	broad.mit.edu	37	15	75190017	75190017	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:75190017G>A	ENST00000352410.4	+	8	1285	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Silent_p.L386L|MPI_ENST00000323744.6_Silent_p.L345L|MPI_ENST00000535694.1_Silent_p.L356L			P34949	MPI_HUMAN	mannose phosphate isomerase	406					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GTGTCTCACTGAAGCTTACTG	0.562000													40	25					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28791722	28791722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:28791722G>T	ENST00000225719.4	+	21	4109	c.4033G>T	c.(4033-4035)Gaa>Taa	p.E1345*	CPD_ENST00000543464.2_Nonsense_Mutation_p.E1098*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1345					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGATGAGTATGAAGATGAAAT	0.428000													194	136					2.46588e-86	2.55458e-86	1	1	0
SETD2	29072	broad.mit.edu	37	3	47125335	47125335	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:47125335G>A	ENST00000409792.3	-	12	5977	c.5935C>T	c.(5935-5937)Cca>Tca	p.P1979S	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTTGGGATGGTGTTTCTTCA	0.443000			"""N, F, S, Mis"""		clear cell renal carcinoma								55	115					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39485688	39485688	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:39485688C>T	ENST00000263881.3	-	30	2673	c.2349G>A	c.(2347-2349)gaG>gaA	p.E783E	MAP4K3_ENST00000341681.5_Silent_p.E762E|MAP4K3_ENST00000437545.1_Silent_p.E699E|MAP4K3_ENST00000536018.1_Silent_p.E336E	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	783	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGGTATCTCTCTCCAGTTGGG	0.328000													58	67					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543410	141543410	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:141543410C>T	ENST00000442267.2	-	21	3814	c.3740G>A	c.(3739-3741)cGg>cAg	p.R1247Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1247						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCATCATCCGGATGTTTTT	0.597000													13	48					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388965	48388965	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:48388965G>A	ENST00000224600.4	-	1	2026	c.1913C>T	c.(1912-1914)gCc>gTc	p.A638V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	638	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCACCAAGGCCCCCAGGCT	0.692000													8	14					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720490	95720490	+	RNA	SNP	C	C	T	rs12570608	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95720490C>T	ENST00000480546.1	-	0	807					NR_002319.2																						AGAGGCTTCTCTCGCTCTTTC	0.453000													6	54					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156810788	156810788	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156810788G>A	ENST00000368195.3	-	22	4167	c.3771C>T	c.(3769-3771)ctC>ctT	p.L1257L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1257					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTAGAAGGAGAGGAGGCGGA	0.647000													5	17					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293789	152293789	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:152293789C>T	ENST00000243326.4	+	12	1890	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	RIF1_ENST00000453091.2_Silent_p.S469S|RIF1_ENST00000444746.2_Silent_p.S469S|RIF1_ENST00000428287.2_Silent_p.S469S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000430328.2_Silent_p.S469S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	469					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCAGCCCTTCCTTTTTTTCCA	0.338000													50	105					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7060894	7060894	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7060894G>A	ENST00000456013.1	+	2	373	c.131_splice	c.e2+1	p.R44_splice	PTPN6_ENST00000318974.9_Splice_Site_p.R44_splice|PTPN6_ENST00000399448.1_Splice_Site_p.R46_splice|PTPN6_ENST00000447931.2_Intron	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	44	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTCTCCGTCAGGTAGGTGGGC	0.642000													37	39					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473535	19473535	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:19473535G>A	ENST00000507958.1	-	15	3163	c.2173C>T	c.(2173-2175)Cta>Tta	p.L725L	CDH18_ENST00000382275.1_Silent_p.L725L|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Silent_p.L725L			Q13634	CAD18_HUMAN	cadherin 18, type 2	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTAGGGTCTAGGTCTGCTTCT	0.493000													36	42					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202235	39202235	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:39202235G>A	ENST00000351578.6	-	2	1018	c.828C>T	c.(826-828)tcC>tcT	p.S276S	FYB_ENST00000540520.1_Silent_p.S286S|FYB_ENST00000512982.1_Silent_p.S276S|FYB_ENST00000515010.1_Silent_p.S276S|FYB_ENST00000505428.1_Silent_p.S276S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	276					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CACCATTTTTGGAGAGACCTG	0.463000													37	72					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023495	28023495	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:28023495C>T	ENST00000375790.5	-	5	1160	c.728G>A	c.(727-729)gGa>gAa	p.G243E	MKX_ENST00000419761.1_Missense_Mutation_p.G243E			Q8IYA7	MKX_HUMAN	mohawk homeobox	243					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCTTGTTTTTCCCATCATGGT	0.448000													36	59					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580887	234580887	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234580887C>G	ENST00000354728.4	+	1	389	c.307C>G	c.(307-309)Cga>Gga	p.R103G	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AGCACAAGTACGAAGTATATA	0.348000													84	88					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20142942	20142942	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:20142942A>T	ENST00000263754.4	+	5	1288	c.833A>T	c.(832-834)tAc>tTc	p.Y278F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	278					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATTTCTGGATACAAAGAGAAC	0.408000													19	90					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371363	126371363	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:126371363G>A	ENST00000394329.3	+	9	9205	c.9192G>A	c.(9190-9192)aaG>aaA	p.K3064K	FAT4_ENST00000335110.5_Silent_p.K1362K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3064	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAGGATAAGGGAAACCCTC	0.418000													75	44					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531168	31531168	+	Splice_Site	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:31531168T>A	ENST00000380473.3	+	4	482		c.e4+2		TEX26_ENST00000530916.1_Splice_Site	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26																		GATCAAAAGGTAAACACTTTT	0.423000													27	22					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47505053	47505053	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:47505053G>A	ENST00000395290.2	-	5	483	c.474C>T	c.(472-474)gcC>gcT	p.A158A	CELF1_ENST00000361904.3_Silent_p.A159A|CELF1_ENST00000531165.1_Silent_p.A186A|CELF1_ENST00000310513.5_Silent_p.A159A|CELF1_ENST00000358597.3_Silent_p.A159A|CELF1_ENST00000395292.2_Silent_p.A159A|CELF1_ENST00000532048.1_Silent_p.A185A	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	159	RRM 2.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TCTGTGCCATGGCTCTTGTTG	0.458000													86	44					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005893	49005893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:49005893C>T	ENST00000226432.4	+	7	1127	c.944C>T	c.(943-945)aCc>aTc	p.T315I	CWH43_ENST00000513409.1_Missense_Mutation_p.T288I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	315					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCTGGGAAAACCATGACCATT	0.458000													22	87					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535170	50535170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:50535170C>T	ENST00000267845.3	-	12	1678	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	HDC_ENST00000543581.1_Missense_Mutation_p.E393K	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	426					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAGCTATTTCCTTTAACACA	0.473000													20	61					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348796	348796	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:348796G>A	ENST00000604971.1	+	4	1267	c.154G>A	c.(154-156)Gga>Aga	p.G52R	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.G52R|DUSP22_ENST00000419235.2_Missense_Mutation_p.G155R|DUSP22_ENST00000344450.5_Missense_Mutation_p.G155R|DUSP22_ENST00000605315.1_Missense_Mutation_p.G52R			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	155					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGAAGAATATGGAGAGAGCCC	0.552000													21	74					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117950	108117950	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:108117950G>A	ENST00000273353.3	-	35	5017	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1654						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGGCCCAGGGATTTGGTTGC	0.468000													23	55					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398207	89398207	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:89398207G>A	ENST00000439576.2	+	12	2765	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	ACAN_ENST00000561243.1_Silent_p.E797E|ACAN_ENST00000559004.1_Silent_p.E797E|ACAN_ENST00000352105.7_Silent_p.E797E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	797					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCCCCTCAGAGGAGCCATCCC	0.602000													3	7					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609896	117609896	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:117609896T>G	ENST00000368508.3	-	43	7001	c.6803A>C	c.(6802-6804)aAc>aCc	p.N2268T	ROS1_ENST00000368507.3_Missense_Mutation_p.N2262T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2268					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCTTCTCGGTTCTTCGTTTC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								28	28					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138587	126138587	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:126138587G>A	ENST00000299308.3	+	9	2576	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	TMEM132B_ENST00000535886.1_Silent_p.G368G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	856						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATGGAAGGGAAGAATAAGT	0.517000													42	20					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166852531	166852531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166852531G>A	ENST00000423058.2	-	24	4590	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1514*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1497*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1525*|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1525						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTCCTGGTCGAGGTATAGGC	0.338000													31	67					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915667	23915667	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:23915667C>T	ENST00000330377.2	-	3	545	c.428G>A	c.(427-429)gGa>gAa	p.G143E	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	143	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGTCAAGATTCCCGGATAAAA	0.587000													35	58					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947138	150947138	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:150947138T>C	ENST00000261800.5	-	1	1367	c.1355A>G	c.(1354-1356)aAc>aGc	p.N452S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	452	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCATGGTTGTTGCAGTCCAC	0.552000													51	36					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:156746841G>A	ENST00000347377.6	+	14	1859	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	476					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597000													31	87					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812740	141812740	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:141812740C>T	ENST00000389484.3	-	10	2468	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	499					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCGACAAGTCCGAGTTTTGT	0.453000										TSP Lung(27;0.18)			28	61					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081986	104081986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:104081986G>A	ENST00000388887.2	+	28	3242	c.3038G>A	c.(3037-3039)tGg>tAg	p.W1013*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1013	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTAACCGATGGATAAATGTG	0.373000													73	47					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307482	89307482	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:89307482C>T	ENST00000338104.6	+	4	453	c.401C>T	c.(400-402)aCc>aTc	p.T134I	TTC8_ENST00000345383.5_Missense_Mutation_p.T134I|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Missense_Mutation_p.T144I|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.T134I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	144					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACACCCAGAACCGCCTACACA	0.527000													37	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89918487	89918487	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:89918487G>A	ENST00000405460.2	+	5	623	c.527G>A	c.(526-528)gGa>gAa	p.G176E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	176					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGAAAAGGGAACCTATGGA	0.368000													6	1					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574540	102574540	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:102574540C>T	ENST00000249377.4	+	2	461	c.180C>T	c.(178-180)ctC>ctT	p.L60L	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Silent_p.L60L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	60					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACACATATCTCCATGAGAAAT	0.522000													59	35					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320508	47320508	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:47320508G>A	ENST00000400314.1	+	6	531	c.193G>A	c.(193-195)Gga>Aga	p.G65R	PCBP3_ENST00000449640.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400304.1_Missense_Mutation_p.G33R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G65R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	65	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		ATTCCAGAAAGGAGAAACTGT	0.612000													31	30					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15694228	15694228	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:15694228G>A	ENST00000281513.5	-	4	269	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	NBAS_ENST00000441750.1_Missense_Mutation_p.R82C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	82										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTAACCAAGCGAACCAGTCCA	0.358000													19	21					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925764	46925764	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:46925764C>T	ENST00000258947.3	+	4	465	c.364C>T	c.(364-366)Cct>Tct	p.P122S	CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50S|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCAAGTATTCCTTTCCAATT	0.448000													64	169					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026464	197026464	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:197026464C>T	ENST00000367412.1	-	6	980	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	313	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAACGTATTTCTGCTGACCCA	0.363000													107	69					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447746	52447746	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:52447746C>T	ENST00000293471.6	+	6	1289	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	ZNF613_ENST00000391794.4_Missense_Mutation_p.H168Y	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGATAAACCCCATGTATGCAC	0.408000													60	264					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404437	9404437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:9404437G>A	ENST00000378501.2	+	24	2341	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	PLCB4_ENST00000414679.2_Missense_Mutation_p.D788N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D776N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D788N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D776N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D776N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	776	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCTGTGTATGATGATAACAA	0.483000													16	27					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695528	150695528	+	Silent	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:150695528C>G	ENST00000297494.3	+	6	1023	c.666C>G	c.(664-666)ggC>ggG	p.G222G	NOS3_ENST00000461406.1_Silent_p.G16G|NOS3_ENST00000484524.1_Silent_p.G222G|NOS3_ENST00000467517.1_Silent_p.G222G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	222	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCAACCGGGGCAACCTTCGGT	0.622000													20	13					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47880080	47880080	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:47880080G>A	ENST00000289672.2	-	35	5581	c.5531C>T	c.(5530-5532)tCc>tTc	p.S1844F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1844	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTGTGTCTGGAATTCCTTTC	0.408000													29	51					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936336	178936336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:178936336C>T	ENST00000286063.5	-	1	1146	c.829G>A	c.(829-831)Gag>Aag	p.E277K	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	277	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACCTGCACCTCATTTGAGTTC	0.527000									Primary Pigmented Nodular Adrenocortical Disease, Familial				57	103					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127230119	127230119	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:127230119G>A	ENST00000000233.5	+	4	412		c.e4-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTCCTGCCCAGGGCCTCATCT	0.507000													55	103					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179193	100179193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:100179193G>A	ENST00000524871.1	+	21	3013	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	CNTN5_ENST00000418526.2_Missense_Mutation_p.G834E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G908E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G908E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G908E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	908	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACAGGGATTTGAGGTA	0.423000													28	10					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376924	88376924	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:88376924A>G	ENST00000298699.2	-	12	1355	c.1175T>C	c.(1174-1176)aTt>aCt	p.I392T	C12orf50_ENST00000550553.1_Missense_Mutation_p.I353T	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	392										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAAAAAGGAATTCGTTTTCG	0.259000													31	78					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809736	809736	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:809736C>T	ENST00000446136.1	-	0	957					NR_027055.1																						CTAGAATTTTCCTTTTCTAGG	0.483000													59	158					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201294	166201294	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166201294C>T	ENST00000357398.3	+	16	3082	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S931F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S931F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S931F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	931					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTTCCACTCCTTCCTGATC	0.502000													84	180					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042351	205042351	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:205042351C>T	ENST00000331830.4	+	22	3284	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1000	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGTCCACATCGTGAGGAATG	0.567000													24	81					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950164	38950164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:38950164G>A	ENST00000359357.3	+	84	12480	c.12226G>A	c.(12226-12228)Gaa>Aaa	p.E4076K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E4040K					dynein, axonemal, heavy chain 8									p.E4076K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTCCCTACGAATTCAATTC	0.358000													66	91					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32589215	32589215	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:32589215C>A	ENST00000248980.4	-	1	251	c.47G>T	c.(46-48)gGa>gTa	p.G16V	RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400237.1_Intron	NM_006605.3	NP_006596.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	0							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						AAAAAAATTTCCATGAGGTGA	0.448000													75	76					1.15098e-32	1.18527e-32	1	1	0
RCSD1	92241	broad.mit.edu	37	1	167659318	167659318	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:167659318A>T	ENST00000367854.3	+	4	562	c.231A>T	c.(229-231)aaA>aaT	p.K77N	RCSD1_ENST00000537350.1_Missense_Mutation_p.K47N	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	77										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					ACCCTCCTAAATTCAAGGTCA	0.433000													126	71					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117858	20117858	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:20117858C>T	ENST00000397165.2	-	4	613	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Silent_p.V119V|ZNF682_ENST00000358523.5_Silent_p.V119V|ZNF682_ENST00000595736.1_Silent_p.V75V|ZNF682_ENST00000597972.1_Silent_p.V157V	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TAAAGACTTTCACACATTTAT	0.294000													22	25					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551716	125551716	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125551716C>T	ENST00000373680.2	+	1	567	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCTCACCTTCCGCCTGAGCTT	0.562000													34	27					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207820286	207820286	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:207820286A>C	ENST00000272852.3	+	3	311	c.265A>C	c.(265-267)Aag>Cag	p.K89Q		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	89					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTATTATCTGAAGGTGAGTGA	0.443000													25	66					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													36	108					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90524302	90524302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:90524302G>A	ENST00000404459.1	+	3	362	c.362G>A	c.(361-363)gGa>gAa	p.G121E		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	121					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AACAGTCGGGGAAACACTTGG	0.423000													19	25					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755663	79755663	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:79755663G>A	ENST00000305428.3	+	3	2628	c.2553_splice	c.e3+1	p.Q851_splice		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	851						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGGACCTGCAGGTGAGCCTCT	0.632000													13	33					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483189	134483189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:134483189C>T	ENST00000339249.4	+	3	649	c.509C>T	c.(508-510)cCg>cTg	p.P170L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCCACCGGAGCTGAAC	0.532000													56	10					0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166845465	166845465	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:166845465C>T	ENST00000367874.4	-	1	99	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	2					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TCACAAAGGTCGCCATTGCTC	0.617000													5	18					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213940	123213940	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:123213940G>A	ENST00000432564.1	-	1	1189	c.947C>T	c.(946-948)tCg>tTg	p.S316L	HCAR1_ENST00000436083.2_Missense_Mutation_p.S316L|HCAR1_ENST00000356987.2_Missense_Mutation_p.S316L	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	316					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ACCGAGGTTCGAAATTGGCAT	0.493000													46	137					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901005	123901005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:123901005C>T	ENST00000431524.1	+	1	709	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTCCATCCTGCGGATCCGCAC	0.517000													57	13					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17328564	17328564	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:17328564G>A	ENST00000452699.1	-	8	844	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P219S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P224S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	224					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GACTTGACCGGTATGCTGATC	0.642000													4	26					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377921	49377921	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49377921C>T	ENST00000200453.5	+	2	1700	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	477	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCAGAGGGCCCACTTCAGGG	0.572000													7	74					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338753	2338753	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:2338753C>T	ENST00000452401.2	+	0	452				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCAGGTCCCCCCGGGGG	0.642000													15	11					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:11111118G>A	ENST00000304623.8	-	14	2504	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S435L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S772L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S681L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S339L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	772					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCCGGTACGAGAGGTTCCT	0.537000													34	95					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15763627	15763627	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:15763627G>A	ENST00000381341.2	+	20	1904	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	DDX1_ENST00000233084.3_Silent_p.K505K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	505	Helicase C-terminal.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGAACATAAGATGGATCAAG	0.368000													47	54					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367319	234367319	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:234367319C>T	ENST00000366618.3	+	3	585	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SLC35F3_ENST00000366617.3_Missense_Mutation_p.S78F	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	78					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGCGTGTGCTCCTCGTGGGCG	0.642000													49	127					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151331022	151331022	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:151331022C>T	ENST00000367321.3	+	21	2467	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	731	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GCCGAGCTTCCGGCTTGGTGC	0.527000													24	91					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100349	72100349	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:72100349G>A	ENST00000355790.4	-	3	669	c.192C>T	c.(190-192)tcC>tcT	p.S64S	LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Silent_p.S64S|LRRC20_ENST00000395010.1_Silent_p.S64S|LRRC20_ENST00000395011.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	64										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TGCTGGTGAGGGACTTAAGCT	0.562000													19	32					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587524	89587524	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:89587524C>T	ENST00000370466.3	-	2	394	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	42					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GGCCCACAATCGCCACCACCA	0.517000													143	78					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300387	101300387	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:101300387T>A	ENST00000519449.1	-	3	332	c.16A>T	c.(16-18)Ata>Tta	p.I6L	RNF19A_ENST00000341084.2_Missense_Mutation_p.I6L	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	6					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAAACCTATTTCTTGTTCT	0.353000													18	25					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169167	27169167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:27169167C>T	ENST00000360046.5	-	2	705	c.640G>A	c.(640-642)Gag>Aag	p.E214K	HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.E214K|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCTTAGGCTCCCCTCCGTTA	0.582000													30	45					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126114872	126114872	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:126114872C>T	ENST00000393425.1	+	2	128	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CCDC37_ENST00000505024.1_Missense_Mutation_p.S10F|CCDC37_ENST00000510833.1_Missense_Mutation_p.S10F|CCDC37_ENST00000352312.1_Missense_Mutation_p.S10F			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	10										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTATAGTCTCCAAGAACATG	0.542000													23	46					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039016	75039016	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:75039016C>T	ENST00000326665.5	-	14	2596	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	793	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTGCCTCCCCTTTTCCCTG	0.517000													127	86					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129128529	129128529	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129128529C>T	ENST00000326639.6	+	19	2749	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	LARP1B_ENST00000264584.5_Silent_p.F787F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.F265F|LARP1B_ENST00000441387.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	846							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TAGAAGACTTCCGTGTTGATG	0.294000													47	39					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045617	6045617	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:6045617G>A	ENST00000265849.7	-	2	174	c.69C>T	c.(67-69)gtC>gtT	p.V23V	PMS2_ENST00000382321.4_Silent_p.V23V|PMS2_ENST00000406569.3_Silent_p.V23V|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	23					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAATCTGATGGACTGACTTCC	0.413000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				325	239					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7521555	7521555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7521555G>A	ENST00000313599.3	-	16	4103	c.4046C>T	c.(4045-4047)tCg>tTg	p.S1349L	CD163L1_ENST00000416109.2_Missense_Mutation_p.S1359L|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1349L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1349						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGATTTCAGCGACTGTCCTga	0.443000													19	50					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91558423	91558423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:91558423C>T	ENST00000052754.5	-	3	784	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	DCN_ENST00000441303.2_Missense_Mutation_p.E95K|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.E95K|DCN_ENST00000393155.1_Missense_Mutation_p.E95K|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.E95K|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	95					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCTTTGATTTCGGTTATTTTG	0.373000													22	28					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735060	89735060	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:89735060C>T	ENST00000343435.5	-	3	715	c.179G>A	c.(178-180)gGg>gAg	p.G60E	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G60E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	60						plasma membrane	GTP binding|GTPase activity	p.G60V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTGTTCTTCCCAGCCAGCTT	0.512000													57	158					0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360478	50360478	+	Silent	SNP	C	C	A	rs140399482	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:50360478C>A	ENST00000298316.5	+	2	571	c.24C>A	c.(22-24)atC>atA	p.I8I		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	8					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TATCCAAAATCTTCGGGAACA	0.632000													41	33					4.07013e-28	4.18642e-28	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686526	125686526	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:125686526G>C	ENST00000371126.1	-	1	308	c.66C>G	c.(64-66)agC>agG	p.S22R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	22										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCGACGGCGAGCTCTCGGCGT	0.706000													29	3					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470642	10470642	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:10470642G>A	ENST00000382483.3	-	4	1189	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	322					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCATCTCCACGGACAGGCTGC	0.657000													19	91					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167055	76167055	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:76167055T>C	ENST00000225777.3	+	2	316	c.257T>C	c.(256-258)tTg>tCg	p.L86S	SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Missense_Mutation_p.L86S|SYNGR2_ENST00000588282.1_Missense_Mutation_p.L86S|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Missense_Mutation_p.L30S			O43760	SNG2_HUMAN	synaptogyrin 2	86	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCTTCTTCTTGGTGGTCGAC	0.587000													50	118					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231815	67231815	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:67231815C>T	ENST00000382713.5	+	2	349	c.159C>T	c.(157-159)ttC>ttT	p.F53F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	53	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCTTATTTCAGAAACTTTC	0.408000													28	34					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927133	60927133	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:60927133G>A	ENST00000252999.3	-	5	756	c.690C>T	c.(688-690)atC>atT	p.I230I	LAMA5_ENST00000370692.3_Silent_p.I230I|LAMA5_ENST00000370677.3_Silent_p.I230I	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	230	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACCACGATCTGTGGGC	0.657000													8	13					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161332140	161332140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:161332140C>T	ENST00000342751.4	+	5	288	c.263C>T	c.(262-264)cCt>cTt	p.P88L	SDHC_ENST00000367975.2_Silent_p.L143L|SDHC_ENST00000392169.2_Silent_p.L90L|SDHC_ENST00000513009.1_Missense_Mutation_p.P54L|SDHC_ENST00000432287.2_Silent_p.L109L|SDHC_ENST00000470743.2_3'UTR	NM_001035511.1	NP_001030588.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AGGAAAAGGCCTGAAGATTCC	0.443000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				16	21					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265540	10265540	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10265540C>T	ENST00000418404.3	-	4	563	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	MYH13_ENST00000570743.1_Missense_Mutation_p.V134M|MYH13_ENST00000252172.4_Missense_Mutation_p.V134M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	134	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						GGCTTGTACACCGGCAGCCAC	0.527000													75	22					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54348889	54348889	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:54348889A>C	ENST00000243103.3	+	1	272	c.176A>C	c.(175-177)gAg>gCg	p.E59A		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	59					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCGTCGGCGGAGCCGTGCAAT	0.706000													9	3					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507988	37507988	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:37507988G>A	ENST00000374660.1	+	40	3636	c.3537G>A	c.(3535-3537)ctG>ctA	p.L1179L	ANKRD30A_ENST00000361713.1_Silent_p.L1060L|ANKRD30A_ENST00000602533.1_Silent_p.L1060L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1148						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTAAAACTGGAAATAGCCA	0.308000													30	61					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178485756	178485756	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:178485756G>A	ENST00000367641.3	+	5	282	c.223G>A	c.(223-225)Gat>Aat	p.D75N	TEX35_ENST00000367639.1_Missense_Mutation_p.D83N|TEX35_ENST00000367643.3_Missense_Mutation_p.D75N|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.D75N					testis expressed 35									p.D75Y(2)									TTAGATAAAGGATCTAATGGA	0.403000													26	22					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619381	108619381	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:108619381C>T	ENST00000218006.2	-	18	3457	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1056					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAAGGTTTCCTCTGTGCCT	0.403000													99	14					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150600038	150600038	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:150600038C>T	ENST00000271690.8	-	2	194	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ENSA_ENST00000356527.5_Missense_Mutation_p.E30K|ENSA_ENST00000339643.5_Missense_Mutation_p.E30K|ENSA_ENST00000362052.7_Missense_Mutation_p.E30K|ENSA_ENST00000369009.3_Missense_Mutation_p.E30K|ENSA_ENST00000361631.5_Missense_Mutation_p.E26K|ENSA_ENST00000369016.4_Missense_Mutation_p.E30K|ENSA_ENST00000361532.5_Missense_Mutation_p.E26K|ENSA_ENST00000369014.5_Missense_Mutation_p.E30K|ENSA_ENST00000503345.1_Missense_Mutation_p.E30K|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Missense_Mutation_p.E26K|ENSA_ENST00000503241.1_Missense_Mutation_p.E30K	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	30					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCTCTCAGGCAGAATA	0.453000													33	104					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961663	240961663	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:240961663C>G	ENST00000252711.2	-	2	270	c.170G>C	c.(169-171)aGc>aCc	p.S57T	NDUFA10_ENST00000307300.4_Missense_Mutation_p.S57T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.S57T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.S57T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	57					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TATCACTCTGCTGCGTTCTGT	0.398000													45	87					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636175	42636175	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:42636175C>T	ENST00000315323.3	+	1	1251	c.1119C>T	c.(1117-1119)caC>caT	p.H373H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	373					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGTACTTCCACCTGGCCGCCT	0.657000													49	109					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2749389	2749389	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:2749389G>A	ENST00000274643.7	-	2	482	c.140C>T	c.(139-141)tCa>tTa	p.S47L	MYLK4_ENST00000268446.5_Missense_Mutation_p.S47L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	47							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCCAGATCTTGAATCCTGGTC	0.383000													63	79					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293084	36293084	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:36293084G>A	ENST00000437635.2	-	6	1321	c.1144C>T	c.(1144-1146)Ccg>Tcg	p.P382S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	382										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTGTCCAGCGGAAGCTCCTCT	0.557000													26	19					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228882709C>T	ENST00000392056.3	-	7	2907	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	954						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)		GGGTTGTTTTCCACTGGAGTT	0.493000													54	139					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64605943	64605943	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:64605943C>T	ENST00000371079.1	+	6	1137	c.762C>T	c.(760-762)atC>atT	p.I254I	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.I254I	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	254	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AATGTGAAATCCTGGAGAATG	0.488000													113	82					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487204	73487204	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73487204C>T	ENST00000314256.7	+	12	1597	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	KIAA0195_ENST00000579208.1_Silent_p.S52S|KIAA0195_ENST00000375248.5_Silent_p.S411S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	401					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACAGTTCCAGCCTGCTGC	0.657000													33	12					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338490	220338490	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:220338490G>A	ENST00000312358.7	+	18	4444	c.4312G>A	c.(4312-4314)Gag>Aag	p.E1438K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1438	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGTGTGTACGAGCTGAGCCA	0.667000													86	100					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067535	160067535	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:160067535C>T	ENST00000327245.5	-	10	1779	c.933G>A	c.(931-933)cgG>cgA	p.R311R		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCATGCGCCGCTCAATCT	0.478000													37	125					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717846	26717846	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:26717846G>A	ENST00000272371.2	-	9	987	c.861C>T	c.(859-861)tcC>tcT	p.S287S	OTOF_ENST00000403946.3_Silent_p.S287S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	287	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCTTCATGGATGTGTACT	0.592000													39	66					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394567	39394567	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:39394567C>T	ENST00000254072.6	+	1	271	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	88	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTGGGTCCAGCTGTGGTC	0.617000													58	151					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73455258	73455258	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:73455258C>T	ENST00000224721.6	+	21	2393	c.2388C>T	c.(2386-2388)acC>acT	p.T796T	CDH23_ENST00000299366.7_Silent_p.T836T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	791	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGAGATGACCCCTCCAGACT	0.592000													5	16					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5108554	5108554	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:5108554C>T	ENST00000315997.5	-	4	768	c.567G>A	c.(565-567)aaG>aaA	p.K189K	C16orf89_ENST00000422873.1_Silent_p.K227K|C16orf89_ENST00000350219.4_Silent_p.K227K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.K189K|C16orf89_ENST00000474471.3_Silent_p.K189K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	189						extracellular region		p.K227K(2)|p.K189K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						AGCAGCCGGGCTTGGTCATGA	0.647000													17	10					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464766	37464766	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:37464766C>T	ENST00000299824.1	+	2	387	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPP1R16B_ENST00000373331.2_Silent_p.F66F|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	66					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.F66F(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTGTCCTTCGAGGCCAGCG	0.652000													23	21					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379513	48379513	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48379513G>A	ENST00000380518.3	-	25	1842	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R491W	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	560	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTACTTACCCGGGCTCCAGGA	0.662000													11	13					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835360	11835360	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:11835360G>A	ENST00000262442.3	+	64	12203	c.12135G>A	c.(12133-12135)acG>acA	p.T4045T	DNAH9_ENST00000396001.2_Silent_p.T357T|DNAH9_ENST00000454412.2_Silent_p.T3969T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCGGGAGACGGAGTTTAAGA	0.493000													150	69					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24735713	24735713	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24735713G>A	ENST00000399409.3	-	15	1961	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	RABGGTA_ENST00000216840.6_Missense_Mutation_p.A493V|RABGGTA_ENST00000560777.1_Missense_Mutation_p.A102V	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	493					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ATTATCACTGGCCTGCAGCAC	0.622000													20	55					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968024	4968024	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4968024C>T	ENST00000380373.2	-	1	332	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.443000													129	147					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186775	140186775	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140186775G>A	ENST00000530339.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAAAGATGGAGTTTTCCT	0.493000													60	65					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882456	167882456	+	Silent	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:167882456T>C	ENST00000265293.4	+	19	3256	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	WWC1_ENST00000521089.1_Silent_p.F918F|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	918	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGGGCCATTTCTTCGAGGGA	0.642000													92	60					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755596	79755596	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:79755596C>T	ENST00000305428.3	+	3	2561	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	829						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCAACCTTCTTGGACCATT	0.627000													19	58					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38216696	38216696	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:38216696G>A	ENST00000407257.1	+	6	1485	c.1338G>A	c.(1336-1338)ttG>ttA	p.L446L	RMDN2_ENST00000406384.1_Silent_p.L268L|RMDN2_ENST00000234195.3_Silent_p.L446L|RMDN2_ENST00000354545.2_Silent_p.L268L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Silent_p.L123L					regulator of microtubule dynamics 2																		ATGCAGTTTTGTGTGGCTATG	0.323000													56	57					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912733	94912733	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:94912733C>T	ENST00000334708.3	-	3	916	c.852G>A	c.(850-852)atG>atA	p.M284I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCACCTGCTTCATTTTCCCCG	0.552000													56	71					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156556460	156556460	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:156556460C>T	ENST00000353442.4	-	6	689	c.453G>A	c.(451-453)ttG>ttA	p.L151L	LMBR1_ENST00000540390.1_Silent_p.L130L|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Silent_p.L151L	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	151						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAAGCATGACCAAAGTCTCTA	0.378000													90	65					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773845	157773845	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:157773845T>C	ENST00000358292.3	-	3	160	c.109A>G	c.(109-111)Acg>Gcg	p.T37A	FCRL1_ENST00000368176.3_Missense_Mutation_p.T37A|FCRL1_ENST00000491942.1_Missense_Mutation_p.T37A|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCTTACACGTCAGGGTCACT	0.532000													30	154					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311712	154311712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:154311712C>T	ENST00000285873.7	-	4	683	c.608G>A	c.(607-609)tGg>tAg	p.W203*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	203					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGGACACCAGGCTATGGA	0.423000													65	65					0	0	1	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76682337	76682337	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:76682337C>T	ENST00000459742.1	+	0	58																											AGAACTGGAACCGAAGTTTCT	0.592000													33	59					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130155408	130155408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:130155408C>T	ENST00000373387.4	+	28	3269	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.P951S|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	973					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CGAAGCCAACCCTGAGGGGCA	0.582000													25	63					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41155106	41155106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41155106C>T	ENST00000263413.3	-	14	2333	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	C6_ENST00000337836.5_Missense_Mutation_p.G690E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	690	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCCAGGTCCCGTCTGGTAA	0.408000													47	36					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27543168	27543168	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:27543168G>A	ENST00000544915.1	+	8	1032	c.813G>A	c.(811-813)aaG>aaA	p.K271K	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Silent_p.K220K|ARNTL2_ENST00000311001.5_Silent_p.K291K|ARNTL2_ENST00000261178.5_Silent_p.K257K|ARNTL2_ENST00000395901.2_Silent_p.K268K|ARNTL2_ENST00000266503.5_Silent_p.K305K|ARNTL2_ENST00000546179.1_Silent_p.K268K	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	305					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTCAAAGAAGAAAGGTATCA	0.343000													26	55					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378050	105378050	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:105378050G>A	ENST00000264122.4	-	19	3034	c.2713C>T	c.(2713-2715)Ccc>Tcc	p.P905S	CBLB_ENST00000394027.3_Missense_Mutation_p.P883S|CBLB_ENST00000407712.1_Missense_Mutation_p.P120S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	905	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGTTTAGGGGGTCTGGCTGGT	0.433000			Mis S		AML								19	47					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423537	95423537	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:95423537G>A	ENST00000336148.5	-	4	435	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTAGGAGCCGAATGAACTAC	0.308000								Direct reversal of damage;Homologous recombination					43	19					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29091096	29091096	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:29091096C>T	ENST00000569815.1	-	0	336					NR_047567.1																						GCCTTATTTTCCTATAGAAAA	0.527000													8	13					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82370629	82370629	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:82370629C>T	ENST00000379071.2	-	4	443	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	130							lipid binding|transporter activity	p.E130K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CACACCTTTTCGTAGATTCTG	0.398000													17	50					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751925	124751925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:124751925G>A	ENST00000321582.5	-	4	1275	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	TTLL11_ENST00000373776.3_Missense_Mutation_p.T363I|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	363	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GCTCTGGAGGGTCCCTGCCAG	0.517000													73	63					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	37098619	37098619	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:37098619C>T	ENST00000300105.6	-	1	984	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	1					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACAGCCCCATAATTCTTC	0.428000													40	54					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275792	159275792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:159275792C>T	ENST00000368115.1	+	5	445	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FCER1A_ENST00000368114.1_Nonsense_Mutation_p.Q83*	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTGCTCCTTCAGGCCTCTGC	0.453000													59	33					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65546386	65546386	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:65546386C>T	ENST00000532090.2	-	2	1788	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	469							protein binding			lung(1)	1						TGGACACCACCACCTGCCGCA	0.602000													7	5					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548892	158548892	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158548892G>A	ENST00000368150.1	-	1	797	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AACCAAAGTGGATTATAACCA	0.483000													51	209					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806268	25806268	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:25806268G>A	ENST00000399878.3	-	10	1793	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	SEL1L3_ENST00000264868.5_Silent_p.I522I|SEL1L3_ENST00000502949.1_Silent_p.I404I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	557						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAAAGGGGACGATAGAGCTAA	0.433000													34	23					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189607219	189607219	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:189607219C>T	ENST00000264731.3	+	12	1687	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.S435F|TP63_ENST00000392460.3_Missense_Mutation_p.S533F|TP63_ENST00000449992.1_Missense_Mutation_p.S354F|TP63_ENST00000354600.5_Missense_Mutation_p.S439F|TP63_ENST00000440651.2_Missense_Mutation_p.S529F|TP63_ENST00000392463.2_Missense_Mutation_p.S439F|TP63_ENST00000382063.4_Missense_Mutation_p.S448F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	533					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCCATGCCATCCACCTCCCAC	0.607000										HNSCC(45;0.13)			20	64					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034118	30034118	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:30034118G>A	ENST00000328224.6	-	2	1341	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	36						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S36S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAGCTGCCCTGGAGTGAGCAA	0.657000													45	22					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534972	96534972	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:96534972G>A	ENST00000371321.3	+	2	408	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	109					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTAACAGAGGATTTGGTAGG	0.517000													23	56					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1117777	1117777	+	Silent	SNP	C	C	T	rs145334605	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:1117777C>T	ENST00000379290.1	+	10	1040	c.867C>T	c.(865-867)taC>taT	p.Y289Y	TTLL10_ENST00000379289.1_Silent_p.Y289Y|TTLL10_ENST00000379288.3_Silent_p.Y216Y			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	289	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGAGACCTACCGCCTGGACC	0.612000													111	57					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720261	155720261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:155720261G>A	ENST00000510397.1	+	4	1126	c.947G>A	c.(946-948)aGa>aAa	p.R316K	RBM46_ENST00000514866.1_Missense_Mutation_p.R316K|RBM46_ENST00000281722.3_Missense_Mutation_p.R316K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	316							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AACACTTGGAGACAGCATCTT	0.398000													16	70					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44683497	44683497	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:44683497C>T	ENST00000396058.1	+	5	1042	c.875C>T	c.(874-876)cCc>cTc	p.P292L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.P292L|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAAGTGTTCCCCAGGTCCTT	0.433000													8	31					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133470	47133470	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:47133470G>A	ENST00000422732.2	-	0	435					NR_033957.1																						CTCCCTTCATGGGTCCAAAAT	0.448000													26	102					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403521	136403521	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:136403521A>G	ENST00000393061.3	+	4	1043	c.611A>G	c.(610-612)aAg>aGg	p.K204R	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.K95R|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.K95R			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	95					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGCACGTCCAAGCGGTACCAG	0.652000													17	72					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95089969	95089969	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:95089969G>A	ENST00000553947.1	+	8	2053	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	SERPINA3_ENST00000393078.3_Missense_Mutation_p.D364N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D364N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D146N|SERPINA3_ENST00000467132.1_Missense_Mutation_p.D364N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	364	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGCTGTGCTTGATGTATTTGA	0.522000													20	66					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665143	180665143	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:180665143G>A	ENST00000512805.1	-	6	1141	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNB2L1_ENST00000514455.1_Missense_Mutation_p.R29C|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.R201C|GNB2L1_ENST00000511900.1_Missense_Mutation_p.R197C	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	245					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGCCAGTAGCGGTTAGGGCTG	0.562000													42	47					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41430275	41430275	+	RNA	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:41430275G>A	ENST00000599198.1	+	0	152					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTCCCACCAGGGCCCCGCCCT	0.582000													46	45					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97869045	97869045	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:97869045G>A	ENST00000437310.1	+	1	876	c.816G>A	c.(814-816)atG>atA	p.M272I		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCAAGATATGATGGAGTCTC	0.418000													18	22					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436601	248436601	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:248436601G>A	ENST00000318021.2	-	1	537	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAAGTGATCGATCTCGTGTG	0.552000													5	49					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687708	11687708	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:11687708G>A	ENST00000262442.3	+	41	7981	c.7913G>A	c.(7912-7914)gGa>gAa	p.G2638E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2638E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2638	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAAGCTCGGAAACTTCCCG	0.562000													115	45					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37471080	37471080	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:37471080G>A	ENST00000002125.4	+	7	796	c.756G>A	c.(754-756)ttG>ttA	p.L252L	NDUFAF7_ENST00000336237.6_Silent_p.L154L|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		GGTTTGTTTTGGCACCTTCTG	0.363000													24	22					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109265207	109265207	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:109265207G>A	ENST00000370017.3	+	5	1126	c.849G>A	c.(847-849)ctG>ctA	p.L283L	FNDC7_ENST00000271311.2_Silent_p.L284L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	284	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAATGACCCTGAAAACTGGTA	0.448000													10	63					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747042	53747042	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53747042T>C	ENST00000333952.4	-	4	289	c.124A>G	c.(124-126)Agg>Ggg	p.R42G	ZNF677_ENST00000594681.1_Missense_Mutation_p.R42G|ZNF677_ENST00000599012.1_Missense_Mutation_p.R42G|ZNF677_ENST00000601413.1_Missense_Mutation_p.R42G|ZNF677_ENST00000601828.1_Missense_Mutation_p.R42G|ZNF677_ENST00000598513.1_Missense_Mutation_p.R42G|ZNF677_ENST00000598806.1_Missense_Mutation_p.R42G			Q86XU0	ZN677_HUMAN	zinc finger protein 677	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGCAGGTTCCTGTAGTTCTCC	0.498000													28	78					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999379	27999379	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:27999379C>T	ENST00000441525.1	-	1	187	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	25										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCAGACTGCTCCTCTGGGCTG	0.567000													42	6					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845899	24845899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24845899C>T	ENST00000413692.2	+	10	2789	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	NFATC4_ENST00000556279.1_Missense_Mutation_p.S851F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S807F|NFATC4_ENST00000555453.1_Missense_Mutation_p.S807F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.S354F|NFATC4_ENST00000555167.1_Missense_Mutation_p.S354F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.S749F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.S107F|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000553879.1_Missense_Mutation_p.S749F|NFATC4_ENST00000554344.1_Missense_Mutation_p.S749F|NFATC4_ENST00000555590.1_Missense_Mutation_p.S832F|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.S832F|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.S851F|NFATC4_ENST00000555802.1_Missense_Mutation_p.S107F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S819F|NFATC4_ENST00000250373.4_Missense_Mutation_p.S819F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	819					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTTCCTGCATCCCCACCGCTT	0.642000													46	98					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377029	77377029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:77377029G>A	ENST00000451710.3	-	26	4795	c.4558C>T	c.(4558-4560)Cag>Tag	p.Q1520*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1515*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1520*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1515*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1520*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1520					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1520K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGTTTGGCTGAAGCCATGGT	0.488000													29	70					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455108	70455108	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:70455108C>T	ENST00000503640.1	-	6	1621	c.1566G>A	c.(1564-1566)aaG>aaA	p.K522K	UGT2A1_ENST00000286604.4_Silent_p.K522K|UGT2A1_ENST00000512704.1_Silent_p.K478K|UGT2A2_ENST00000457664.2_Silent_p.K531K|UGT2A1_ENST00000514019.1_Silent_p.K688K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	522					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTTTCTTCTTTCCTATCT	0.328000													36	25					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140201449	140201449	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:140201449G>A	ENST00000340951.4	-	22	2779	c.2584C>T	c.(2584-2586)Ccc>Tcc	p.P862S	EXD3_ENST00000342129.4_Missense_Mutation_p.P500S	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	862					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGCTCGCAGGGGCTGGGGGCG	0.652000													9	9					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582574	55582574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:55582574C>T	ENST00000361849.3	-	34	5312	c.4918G>A	c.(4918-4920)Gaa>Aaa	p.E1640K	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1598K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1615K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1638K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1635K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1569K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1638					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTATTTCCTCTTTCTCT	0.398000										HNSCC(58;0.16)			27	77					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96432560	96432560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:96432560C>T	ENST00000274382.4	-	5	810	c.515G>A	c.(514-516)tGg>tAg	p.W172*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	172										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCTTCCATTCCAGTGCAATAG	0.443000													44	39					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13541976	13541976	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:13541976G>A	ENST00000341083.3	-	3	390	c.94C>T	c.(94-96)Cta>Tta	p.L32L	BEND7_ENST00000396898.2_Silent_p.L84L|BEND7_ENST00000396900.2_Silent_p.L84L|BEND7_ENST00000378605.3_Silent_p.L32L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	84							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCTTCTTTTAGTTTCTCTCCT	0.502000													30	60					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7863106	7863106	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:7863106G>A	ENST00000377532.3	+	8	1096		c.e8-1		PER3_ENST00000361923.2_Splice_Site|PER3_ENST00000377541.1_Splice_Site			P56645	PER3_HUMAN	period circadian clock 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTATCCCAGAGCAGTGCCT	0.413000													92	41					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548427	136548427	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:136548427G>A	ENST00000264162.2	-	15	5146	c.5136C>T	c.(5134-5136)cgC>cgT	p.R1712R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1712	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGGCCACGAGCGATCTGCGA	0.458000													19	41					0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73934025	73934025	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:73934025G>A	ENST00000423730.3	-	5	902	c.467C>T	c.(466-468)cCc>cTc	p.P156L	KHDC1L_ENST00000370388.3_Silent_p.T53T|KHDC1L_ENST00000471312.1_5'UTR																							GCTGAATAAGGGTGTGGCTGT	0.522000													6	1					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642357	156642357	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156642357C>T	ENST00000368223.3	-	4	1755	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	541	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCCAAAGGAACCT	0.458000													37	153					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659497	63659497	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:63659497G>A	ENST00000523211.1	+	4	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	94						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448000													26	18					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582538	120582538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:120582538G>A	ENST00000300648.6	-	41	5269	c.5257C>T	c.(5257-5259)Cga>Tga	p.R1753*		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.R1753R(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCCATCTCGGACATGGGGT	0.507000													90	88					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005894	49005894	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:49005894C>T	ENST00000226432.4	+	7	1128	c.945C>T	c.(943-945)acC>acT	p.T315T	CWH43_ENST00000513409.1_Silent_p.T288T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	315					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGGGAAAACCATGACCATTG	0.453000													22	88					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507867	219507867	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:219507867G>A	ENST00000411696.2	-	7	4151	c.3372C>T	c.(3370-3372)atC>atT	p.I1124I	ZNF142_ENST00000449707.1_Silent_p.I1124I			P52746	ZN142_HUMAN	zinc finger protein 142	1124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGCCCCGGATCTGGTGAG	0.612000													13	22					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136203	92136203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:92136203C>T	ENST00000256343.3	-	14	1398	c.1242G>A	c.(1240-1242)atG>atA	p.M414I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	414					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGAAATACCATTCCAACGG	0.408000													17	64					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642767	57642767	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:57642767C>T	ENST00000254181.4	+	4	3178	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	USP29_ENST00000598197.1_Silent_p.I908I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	908					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGGGGTGATCCCTCAGGGGG	0.473000													50	34					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94467528	94467528	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:94467528C>T	ENST00000370225.3	-	45	6254	c.6168G>A	c.(6166-6168)aaG>aaA	p.K2056K	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.K175K|ABCA4_ENST00000536513.1_Silent_p.K326K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2056	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGCCCAGGCTCTTAATACTCC	0.557000													23	84					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535797	27535797	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:27535797C>T	ENST00000574842.1	+	0	255																											TTGTTGTATTCCCATTTTGTC	0.478000													47	81					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163787	32163787	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:32163787C>T	ENST00000564145.1	-	0	47																											GAAGGCCTTCCCGCAAAGCTG	0.532000													13	67					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921769	24921769	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:24921769T>C	ENST00000329468.2	+	1	1229	c.755T>C	c.(754-756)cTt>cCt	p.L252P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCGGCATCTTGGAAAGCCT	0.627000													28	27					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60511882	60511882	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:60511882G>A	ENST00000360469.5	+	16	2720	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	CDH4_ENST00000543233.1_Missense_Mutation_p.G804S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	878	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCCACCGCAGGCTCCGTCAG	0.627000													27	27					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822055	43822055	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:43822055G>A	ENST00000389420.3	-	26	3933	c.3934C>T	c.(3934-3936)Cca>Tca	p.P1312S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P430S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1312S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1312	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATCCCCATGGTCCGGTTCTC	0.353000													49	40					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176289705	176289705	+	Missense_Mutation	SNP	G	G	A	rs145793659		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176289705G>A	ENST00000329542.4	+	2	425	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	51	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGAGCCCGAGGATGTGTA	0.647000													32	63					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:101186048C>T	ENST00000294728.2	+	2	182	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_ENST00000370119.4_Silent_p.I27I|VCAM1_ENST00000347652.2_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	27	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I27M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408000													53	167					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432252	140432252	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140432252G>A	ENST00000306549.3	+	1	1274	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACATTTGGGAATTCTTACT	0.473000													40	102					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278098	36278098	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36278098C>T	ENST00000007510.4	+	21	2775	c.2631C>T	c.(2629-2631)ccC>ccT	p.P877P	ARHGAP33_ENST00000378944.5_Silent_p.P741P|ARHGAP33_ENST00000314737.5_Silent_p.P716P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	877	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CACTGCCACCCCCTCCCCTGT	0.662000													14	37					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172533494	172533494	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:172533494C>T	ENST00000417960.1	+	23	2882	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L	ECT2_ENST00000441497.2_Missense_Mutation_p.S803L|ECT2_ENST00000540509.1_Missense_Mutation_p.S834L|ECT2_ENST00000392692.3_Missense_Mutation_p.S834L|ECT2_ENST00000232458.5_Missense_Mutation_p.S803L|ECT2_ENST00000427830.1_Missense_Mutation_p.S803L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	803			T -> P (in a breast cancer sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAAGACTTCAAAAAAGGTG	0.299000													24	34					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193336700	193336700	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:193336700C>T	ENST00000361510.2	+	6	887	c.653C>T	c.(652-654)tCt>tTt	p.S218F	OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.S200F|OPA1_ENST00000361150.2_Missense_Mutation_p.S164F|OPA1_ENST00000361828.2_Missense_Mutation_p.S218F|OPA1_ENST00000361908.3_Missense_Mutation_p.S200F|OPA1_ENST00000361715.2_Missense_Mutation_p.S182F|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	200					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GATCGTGGATCTGAAAGTGAC	0.358000													68	66					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538228	4538228	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:4538228G>A	ENST00000306390.6	-	2	1228	c.768C>T	c.(766-768)ttC>ttT	p.F256F	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	256						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGCCCTGGAAGGCACCGG	0.622000													56	155					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754426	49754426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:49754426C>T	ENST00000304801.3	-	1	627	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	159					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACATAGACGTCCCCTAGCTTG	0.483000													23	73					0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801266	111801266	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:111801266G>A	ENST00000361483.3	-	4	444	c.3_splice	c.e4-1	p.A2_splice	FAM109A_ENST00000547838.2_5'UTR|FAM109A_ENST00000392658.5_5'UTR|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000548163.1_5'UTR	NM_001177996.1	NP_001171467.1	Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	0					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GGAGCCTGGGGCCTGGACCCC	0.637000													5	12					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223960	142223960	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:142223960C>T	ENST00000390367.3	-	0	223																											CACTCTCATCCTGAAATTGAA	0.507000													28	70					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708285	152708285	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:152708285C>T	ENST00000367255.5	-	54	9010	c.8409G>A	c.(8407-8409)aaG>aaA	p.K2803K	SYNE1_ENST00000265368.4_Silent_p.K2803K|SYNE1_ENST00000448038.1_Silent_p.K2810K|SYNE1_ENST00000423061.1_Silent_p.K2810K|SYNE1_ENST00000341594.5_Silent_p.K2842K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2803					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCCTCTGTCTTTTCGTAGA	0.463000										HNSCC(10;0.0054)			28	85					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125496	34125496	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:34125496G>A	ENST00000297161.2	+	14	1911	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	BMPER_ENST00000426693.1_Missense_Mutation_p.G513R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	513	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGTGGAGATGGAAACTTCAA	0.468000													77	58					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922446	55922446	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:55922446C>T	ENST00000288221.6	-	14	2790	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	845						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGCTGTTTCCTCCTCTCAA	0.557000													44	87					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807605	143807605	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:143807605G>A	ENST00000408979.2	+	1	999	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGTCCATGAGAACGGTGT	0.428000													79	167					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153320361	153320361	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:153320361C>T	ENST00000368739.3	-	2	406	c.49_splice	c.e2+1	p.W16_splice	PGLYRP4_ENST00000359650.5_Splice_Site_p.W16_splice|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	16					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACTTACCCCAGGCCTGGA	0.512000													5	27					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617104	1617104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1617104G>A	ENST00000381580.1	-	3	558	c.379C>T	c.(379-381)Cct>Tct	p.P127S	SIRPG_ENST00000303415.3_Missense_Mutation_p.P160S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.P160S|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.P160S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	160	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.P160T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTATGCTCAGGTGTGGTCCTC	0.512000													33	61					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661349	113661349	+	RNA	SNP	A	A	G	rs1713675	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:113661349A>G	ENST00000393544.2	+	0	1397																											GGGTATAGATAACCTGGAAAC	0.478000													5	105					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530776	42530776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:42530776C>T	ENST00000282030.5	+	4	1767	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	491						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAAGTTATCCCAGGAGGTGT	0.502000									Schinzel-Giedion syndrome				56	81					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151772	100151772	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100151772C>T	ENST00000300176.4	+	5	764	c.642C>T	c.(640-642)ccC>ccT	p.P214P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	214					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCCACCTCCCCACTCCTCTG	0.577000													54	40					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915911	39915911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:39915911C>T	ENST00000425673.1	+	17	4376	c.4051C>T	c.(4051-4053)Cct>Tct	p.P1351S	PLEKHG2_ENST00000458508.2_Silent_p.L1202L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P571S|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P571S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1380S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGGGGCTCCTGATGCCCC	0.607000													10	27					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019338	23019338	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:23019338C>T	ENST00000327968.5	+	1	1252	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	388	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AATTTGAACCCCAGATAAGGA	0.403000													149	28					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236433186	236433186	+	Missense_Mutation	SNP	G	G	A	rs142995196		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:236433186G>A	ENST00000354619.5	-	2	412	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	ERO1LB_ENST00000327333.8_Missense_Mutation_p.R71C	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	71					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.R71C(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTGTAATAACGAAAATAGTCT	0.323000													20	55					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41555585	41555585	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:41555585C>T	ENST00000396942.1	-	24	2696	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	ANK1_ENST00000396945.1_Silent_p.V871V|ANK1_ENST00000379758.2_Silent_p.V871V|ANK1_ENST00000265709.8_Silent_p.V912V|ANK1_ENST00000352337.4_Silent_p.V871V|ANK1_ENST00000347528.4_Silent_p.V871V|ANK1_ENST00000289734.7_Silent_p.V871V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	871					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGACCTGATCACCACTGTCT	0.562000													16	18					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14952450	14952450	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrY:14952450A>G	ENST00000338981.3	+	36	6943	c.5998A>G	c.(5998-6000)Atg>Gtg	p.M2000V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2000					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTGAAATTTATGCATAACCG	0.353000													39	17					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:69033271G>A	ENST00000288368.4	+	30	3988	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R1237R(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000													24	54					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833631	38833631	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38833631G>A	ENST00000449082.2	-	2	298	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	100					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGGGAAATGGTCCTCCCTTT	0.433000													51	140					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039876	207039876	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:207039876G>A	ENST00000367098.1	+	4	636	c.273G>A	c.(271-273)ctG>ctA	p.L91L	IL20_ENST00000367096.3_Silent_p.L91L|IL20_ENST00000391930.2_Silent_p.L91L			Q9NYY1	IL20_HUMAN	interleukin 20	91					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GACTCTATCTGGACAGGGTAT	0.502000													433	248					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680060	100680060	+	Missense_Mutation	SNP	C	C	T	rs145956810	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100680060C>T	ENST00000306151.4	+	3	5427	c.5363C>T	c.(5362-5364)tCg>tTg	p.S1788L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1788	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1788L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCGTCTCCTACA	0.537000													526	331					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380539	27380539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:27380539A>T	ENST00000323372.4	+	4	912	c.586A>T	c.(586-588)Aag>Tag	p.K196*	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	196					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTACCAAGCTAAGAGCTTGGT	0.572000													78	66					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74923628	74923628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:74923628G>A	ENST00000262144.6	-	21	2298	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	723										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCGCCCAAATGGATGTCGAGC	0.473000													20	33					0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127177167	127177167	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:127177167G>A	ENST00000536392.1	-	2	126	c.110C>T	c.(109-111)cCa>cTa	p.P37L	PSMB7_ENST00000259457.3_Missense_Mutation_p.P37L|PSMB7_ENST00000498485.1_5'UTR			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGGACCTTTGGAAGCTTGTA	0.517000													8	40					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25346726	25346726	+	RNA	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:25346726C>T	ENST00000546682.1	+	0	1475				SNORD116-27_ENST00000516087.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GTGCCTGGATCGATGATGACT	0.423000													21	29					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692276	12692276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:12692276G>A	ENST00000311437.6	-	5	735	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGAGCTGCGAGTGAAGGTT	0.423000													69	74					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880155	30880155	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:30880155C>T	ENST00000259895.4	+	11	1232	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	GTF2H4_ENST00000376316.2_Missense_Mutation_p.R337W	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	337			R -> Q (in dbSNP:rs3218820).		mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GATGCTCTATCGGTTCCCCAA	0.597000								Nucleotide excision repair (NER)					19	62					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459706	82459706	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:82459706C>T	ENST00000369754.3	-	3	1404	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	FAM46A_ENST00000320172.6_Silent_p.V345V|FAM46A_ENST00000369756.3_Silent_p.V426V			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	345										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CTTCCAATCCCACAAAGTGGT	0.443000													20	62					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4168039	4168039	+	Silent	SNP	C	C	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:4168039C>T	ENST00000305958.4	+	7	1878	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	SMOX_ENST00000339123.6_Silent_p.F498F|SMOX_ENST00000278795.3_Silent_p.F528F|SMOX_ENST00000346595.2_Silent_p.F186F|SMOX_ENST00000379460.2_Silent_p.F551F	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	551					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGACCTCTTCCAGCAGGGGA	0.632000													30	41					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:21036450G>A	ENST00000381545.3	+	13	1815	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.R532R|SLCO1B3_ENST00000553473.1_Silent_p.R532R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000													19	60					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719395	109719395	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:109719395G>A	ENST00000299162.5	-	9	1215	c.1111C>T	c.(1111-1113)Ctt>Ttt	p.L371F	FOXN4_ENST00000355216.1_Missense_Mutation_p.L191F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	371					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCTGGAGCAAGATGTGCCTGG	0.701000													5	14					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915669	23915669	+	Silent	SNP	C	C	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:23915669C>A	ENST00000330377.2	-	3	543	c.426G>T	c.(424-426)ccG>ccT	p.P142P	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	142	C region (By similarity to lambda light- chain).|Ig-like C1-type.		P -> L (in a patient with agammaglobulinemia; dbSNP:rs1064422).		immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TCAAGATTCCCGGATAAAAGT	0.582000													36	56					3.6622e-26	3.76235e-26	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699843	136699843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:136699843G>A	ENST00000445907.2	+	3	759	c.231G>A	c.(229-231)atG>atA	p.M77I	CHRM2_ENST00000402486.3_Missense_Mutation_p.M77I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M77I|CHRM2_ENST00000401861.1_Missense_Mutation_p.M77I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M77I|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M77I|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	77					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTTTCTCCATGAACTTGTACA	0.478000													196	118					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148512065	148512065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:148512065G>A	ENST00000320356.2	-	14	1734	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	EZH2_ENST00000350995.2_Missense_Mutation_p.S494L|EZH2_ENST00000483967.1_Missense_Mutation_p.S524L|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000460911.1_Missense_Mutation_p.S533L	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	533	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.S538L(1)|p.S494L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAAGGGCACGAACTGTCACA	0.398000			Mis		DLBCL								44	23					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													8	205	---	---	---	---					
CCDC125	202243	broad.mit.edu	37	5	68609835	68609847	+	Frame_Shift_Del	DEL	GCCTTAATTCTTC	GCCTTAATTCTTC	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:68609835_68609847delGCCTTAATTCTTC	ENST00000396496.2	-	3	438_450	c.331_343delGAAGAATTAAGGC	c.(331-345)aafs	p.EELRQ111fs	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Frame_Shift_Del_p.EELRQ110fs|CCDC125_ENST00000396499.1_Frame_Shift_Del_p.EELRQ111fs			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	111						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TTAAGACATTGCCTTAATTCTTCATTTGACAAT	0.362													45	83	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)agafs	p.R254fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													10	55	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144620643	144620652	+	Frame_Shift_Del	DEL	AACCAGCGAG	AACCAGCGAG	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:144620643_144620652delAACCAGCGAG	ENST00000262577.5	-	2	916_925	c.885_894delCTCGCTGGTT	c.(883-894)gcfs	p.ASLV295fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	295					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACAGGTCACAACCAGCGAGGCCTCCCGGG	0.629													9	122	---	---	---	---					
NARF	26502	broad.mit.edu	37	17	80436763	80436763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:80436763delC	ENST00000390006.4	+	6	905	c.431delC	c.(430-432)ttfs	p.S144fs	NARF_ENST00000345415.7_Frame_Shift_Del_p.S155fs|NARF_ENST00000309794.10_Frame_Shift_Del_p.S203fs|NARF_ENST00000457415.3_Frame_Shift_Del_p.S203fs|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_Frame_Shift_Del_p.S75fs	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	203						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTCATGGGCTCTTTGGTGAAG	0.642													35	23	---	---	---	---					
ZNF236	7776	broad.mit.edu	37	18	74592200	74592217	+	In_Frame_Del	DEL	GGAGTCGGGGCAGTCCCC	GGAGTCGGGGCAGTCCCC	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:74592200_74592217delGGAGTCGGGGCAGTCCCC	ENST00000253159.8	+	8	1308_1325	c.1110_1127delGGAGTCGGGGCAGTCCCC	c.(1108-1128)gtg>gt	p.VESGQSP370del	ZNF236_ENST00000320610.9_In_Frame_Del_p.VESGQSP372del	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	370					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGCGCCGGTGGAGTCGGGGCAGTCCCCGCAGCCTGGG	0.651													20	33	---	---	---	---					
FBXO17	115290	broad.mit.edu	37	19	39439219	39439221	+	In_Frame_Del	DEL	ACG	ACG	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:39439219_39439221delACG	ENST00000292852.4	-	3	788_790	c.447_449delCGT	c.(445-450)ttg>tt	p.FV149del	SARS2_ENST00000448145.2_5'UTR|FBXO17_ENST00000595329.1_In_Frame_Del_p.FV149del|CTC-360G5.8_ENST00000599996.1_In_Frame_Del_p.R54del	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GAAAGAGGTCACGAAGCAGGTCT	0.621													28	40	---	---	---	---					
ZNF320	162967	broad.mit.edu	37	19	53384769	53384770	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53384769_53384770insAT	ENST00000595635.1	-	8	1110_1111	c.609_610insAT	c.(607-612)catggcfs	p.HG203fs	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Frame_Shift_Ins_p.HG203fs	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTTTTGCCAGGTGTGAATCAT	0.371													15	87	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)atafs	p.I1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													7	88	---	---	---	---					
