Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NBPF14	25832	broad.mit.edu	37	1	148342006	148342007	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:148342006_148342007CC>AA	uc001eqf.3	-	5	602	c.567_splice	c.e5-1	p.R189_splice	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Splice_Site|NBPF14_uc001erc.4_Splice_Site|NBPF14_uc001erd.4_Splice_Site_p.R189_splice|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_Splice_Site|NBPF14_uc010pav.2_Splice_Site_p.R189_splice|NBPF14_uc010paw.2_Splice_Site_p.R114_splice	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	120	NBPF 2.					cytoplasm		p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTGCACCTCCCTGATGAGCCA	0.525000														445			14		0	0	6.4e-05	0	0
CTNND2	1501	broad.mit.edu	37	5	11110978	11110979	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:11110978_11110979GG>TT	uc003jfa.1	-	13	2599_2600	c.2454_2455CC>AA	c.(2452-2457)tcccaa>tcAAaa	p.Q819K	CTNND2_uc010itt.2_Missense_Mutation_p.Q728K|CTNND2_uc011cmy.1_Missense_Mutation_p.Q482K|CTNND2_uc011cmz.1_Missense_Mutation_p.Q386K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q386K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	819					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S818F(1)		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						ACCTGATCTTGGGATTTCTTTT	0.500000														874			20		0	0	6.4e-05	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881778	92881779	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:92881778_92881779GG>TT	uc001pdn.3	-	10	1536_1537	c.1439_1440CC>AA	c.(1438-1440)ccc>cAA	p.P480Q	AK093898_uc001pdl.1_5'Flank|SLC36A4_uc001pdm.3_Missense_Mutation_p.P345Q	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	480					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTACAACTTTGGGAGTAGGATA	0.337000														467			12		0	0	6.4e-05	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513224	149513225	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:149513224_149513225CC>AA	uc003lro.3	-	5	1327_1328	c.858_859GG>TT	c.(856-861)tcgggg>tcTTgg	p.G287W	PDGFRB_uc010jhd.3_Missense_Mutation_p.G126W|PDGFRB_uc011dcg.1_Missense_Mutation_p.G287W	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	287	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTAGGTCCCCGAGTCTTCTA	0.559000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									159			7		0	0	6.4e-05	0	0
GCOM1	145781	broad.mit.edu	37	15	57913897	57913897	+	Splice_Site	SNP	C	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr15:57913897C>G	uc002aei.3	+	4	542	c.411_splice	c.e4+1	p.S137_splice	GCOM1_uc002aej.3_Splice_Site_p.S137_splice|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Splice_Site_p.S137_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.S137_splice	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	137					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGAACTATCAGTAAGTCAT	0.468000														100			11		0	0	0.00010058	0	0
ADAM30	11085	broad.mit.edu	37	1	120437782	120437783	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:120437782_120437783GG>TT	uc001eij.3	-	0	1365_1366	c.1177_1178CC>AA	c.(1177-1179)cca>AAa	p.P393K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACCTAGTCCTGGGATATTATTT	0.411000														669			20		0	0	6.4e-05	0	0
THAP7	80764	broad.mit.edu	37	22	21355586	21355587	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21355586_21355587GG>TT	uc002ztr.1	-	2	224_225	c.194_195CC>AA	c.(193-195)tcc>tAA	p.S65*	THAP7_uc002zts.1_Nonsense_Mutation_p.S65*|DQ574263_uc021wlz.1_5'Flank|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	65					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAAAGTGTTTGGAGCAGAAGTA	0.663000														915			24		0	0	6.4e-05	0	0
P2RX6	9127	broad.mit.edu	37	22	21377655	21377656	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21377655_21377656GG>TT	uc010gsu.1	+	6	730_731	c.730_731GG>TT	c.(730-732)ggg>TTg	p.G244L	P2RX6_uc002ztz.2_Missense_Mutation_p.G218L|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	244					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										GTTCCGCATTGGGGACCTCGTG	0.614000														856			23		0	0	6.4e-05	0	0
SERPIND1	3053	broad.mit.edu	37	22	21140325	21140326	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21140325_21140326GG>TT	uc002ztc.2	+	2	1284_1285	c.1281_1282GG>TT	c.(1279-1284)ctggag>ctTTag	p.E428*	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Nonsense_Mutation_p.E400*	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	400					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	AATTCAAGCTGGAGAAGAACTA	0.446000														931			19		0	0	6.4e-05	0	0
EPHA1	2041	broad.mit.edu	37	7	143104715	143104716	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:143104715_143104716GG>TT	uc003wcz.3	-	1	225_226	c.138_139CC>AA	c.(136-141)ccccca>ccAAca	p.P47T	LOC285965_uc003wda.3_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	47						integral to plasma membrane	ATP binding|ephrin receptor activity	p.P47Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCATCTTTTGGGGGATCCAGCA	0.550000														239			10		0	0	6.4e-05	0	0
ABCA5	23461	broad.mit.edu	37	17	67251966	67251966	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:67251966A>G	uc002jif.2	-	28	5102	c.3884T>C	c.(3883-3885)tTg>tCg	p.L1295S	ABCA5_uc002jib.2_Missense_Mutation_p.L261S|ABCA5_uc002jic.2_Missense_Mutation_p.L518S|ABCA5_uc002jid.2_Missense_Mutation_p.L212S|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.L1295S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1295	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTCTTTATGCAAATTGCTGAC	0.294000														54			19		0	0	9.7654e-05	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22737	22737	+	RNA	SNP	T	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chrGL000241.1:22737T>G	uc011mgv.2	-	5		c.683A>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CTTACATTTTTAAAGACTGGT	0.318000														76			14		0	0	5.01169e-05	0	0
STX2	2054	broad.mit.edu	37	12	131293178	131293179	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr12:131293178_131293179GG>TT	uc001uio.3	-	4	518_519	c.351_352CC>AA	c.(349-354)acccag>acAAag	p.Q118K	STX2_uc001uip.3_Missense_Mutation_p.Q118K|STX2_uc010tbj.2_Missense_Mutation_p.Q118K	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	118					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TAGCAAACCTGGGTTCTTCGTA	0.381000														317			13		0	0	6.4e-05	0	0
CAPSL	133690	broad.mit.edu	37	5	35910056	35910057	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35910056_35910057GG>TT	uc003jjt.1	-	3	531_532	c.436_437CC>AA	c.(436-438)cca>AAa	p.P146K	CAPSL_uc003jju.1_Missense_Mutation_p.P146K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	146	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTGGTACTTTGGGTGGTGTTTT	0.366000														913			23		0	0	6.4e-05	0	0
ARPP21	10777	broad.mit.edu	37	7	38313210	38313211	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:38313210_38313211GG>TT	uc003tge.1	-	3	781_782	c.404_405CC>AA	c.(403-405)ccc>cAA	p.P135Q	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding	p.K135Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTTTGTTCCGGGACCAAATAC	0.411000														169			8		0	0	6.4e-05	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044667	9044668	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:9044667_9044668CC>AA	uc003jek.2	-	21	3634_3635	c.2922_2923GG>TT	c.(2920-2925)gtgggg>gtTTgg	p.G975W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	975					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGCTCAGCCCCACGGCGATCA	0.540000														572			16		0	0	6.4e-05	0	0
PARD3	56288	broad.mit.edu	37	10	34759192	34759192	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr10:34759192C>T	uc010qej.2	-	4	734	c.404_splice	c.e4-1	p.N135_splice	PARD3_uc010qep.2_Splice_Site_p.N135_splice|PARD3_uc010qeq.2_Splice_Site_p.N135_splice|PARD3_uc010qek.2_Splice_Site_p.N135_splice|PARD3_uc010qel.2_Splice_Site_p.N135_splice|PARD3_uc010qem.2_Splice_Site_p.N135_splice|PARD3_uc010qen.2_Splice_Site_p.N135_splice|PARD3_uc010qeo.2_Splice_Site_p.N135_splice|PARD3_uc001ixr.2_Splice_Site_p.N135_splice|PARD3_uc001ixq.2_Splice_Site_p.N135_splice|PARD3_uc001ixp.2_Splice_Site_p.N135_splice|PARD3_uc001ixt.1_Splice_Site|PARD3_uc001ixu.2_Splice_Site_p.N135_splice	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	135					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGAGGCATATCTGTAAACACA	0.388000														68			27		0	0	2.90539e-05	0	0
P2RX6	9127	broad.mit.edu	37	22	21377584	21377585	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21377584_21377585GG>TT	uc010gsu.1	+	6	659_660	c.659_660GG>TT	c.(658-660)tgg>tTT	p.W220F	P2RX6_uc002ztz.2_Missense_Mutation_p.W194F|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	220					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TTGGAGACCTGGGACCCCACCT	0.574000														862			22		0	0	6.4e-05	0	0
NME9	347736	broad.mit.edu	37	3	138033207	138033208	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:138033207_138033208GG>TT	uc003esg.3	-	5	454_455	c.426_427CC>AA	c.(424-429)tcccat>tcAAat	p.H143N	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.H58N|NME9_uc003ese.1_Missense_Mutation_p.H82N	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	143					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTCTTTCCATGGGAAACACATT	0.347000														466			11		0	0	6.4e-05	0	0
BLM	641	broad.mit.edu	37	15	91303999	91304000	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr15:91303999_91304000GG>TT	uc002bpr.3	+	6	1493_1494	c.1396_1397GG>TT	c.(1396-1398)ggg>TTg	p.G466L	BLM_uc010uqh.2_Missense_Mutation_p.G466L|BLM_uc010uqi.2_Missense_Mutation_p.G91L|BLM_uc010bnx.3_Missense_Mutation_p.G466L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	466					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGACTGTTTA	0.436000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					337			9		0	0	6.4e-05	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178884	19178884	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:19178884T>C	uc021wle.1	-	26	4330	c.4255A>G	c.(4255-4257)Atc>Gtc	p.I1419V	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.I1419V|CLTCL1_uc011agw.1_Missense_Mutation_p.I1398V|CLTCL1_uc011agt.2_Missense_Mutation_p.I210V|CLTCL1_uc011agu.2_Missense_Mutation_p.I210V	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1419	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGTCATTGATGAGCAGTGGT	0.527000			T	?	ALCL									59			5		0	0	8.12818e-05	0	0
TDRD5	163589	broad.mit.edu	37	1	179631268	179631268	+	Silent	SNP	G	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:179631268G>T	uc010pnp.2	+	14	2870	c.2352G>T	c.(2350-2352)ctG>ctT	p.L784L	TDRD5_uc021pfm.1_Silent_p.L730L|TDRD5_uc001gnf.2_Silent_p.L730L|TDRD5_uc021pfn.1_Silent_p.L784L|TDRD5_uc001gnh.2_Silent_p.L285L	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	781					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L730L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCATGCCTGGAGTCAGTGA	0.403000														72			30		3.28013e-08	2.13229e-06	0.000159656	1	0
KCNMA1	3778	broad.mit.edu	37	10	78943241	78943241	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr10:78943241A>G	uc001jxn.3	-	4	923	c.746T>C	c.(745-747)gTa>gCa	p.V249A	KCNMA1_uc021ptu.1_Missense_Mutation_p.V195A|KCNMA1_uc001jxj.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V69A|KCNMA1_uc001jxo.3_Missense_Mutation_p.V249A|KCNMA1_uc001jxm.3_Missense_Mutation_p.V249A|KCNMA1_uc001jxq.3_Missense_Mutation_p.V249A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	249					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAATCCACTACAGAGTTCAC	0.448000														17			5		0	0	1.23904e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437807	120437808	+	Nonsense_Mutation	DNP	CC	AA	AA	rs141390897	by1000genomes	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:120437807_120437808CC>AA	uc001eij.3	-	0	1340_1341	c.1152_1153GG>TT	c.(1150-1155)tcggga>tcTTga	p.G385*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	385	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.S384S(2)|p.G385*(2)|p.S384L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATGTTGCTCCCGAAGAGATAT	0.411000														629			13		0	0	6.4e-05	0	0
TLL1	7092	broad.mit.edu	37	4	166916261	166916261	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:166916261A>G	uc003irh.2	+	4	1210	c.563A>G	c.(562-564)cAc>cGc	p.H188R	TLL1_uc021xud.1_Missense_Mutation_p.H188R|TLL1_uc011cjn.2_Missense_Mutation_p.H188R|TLL1_uc011cjo.2_Missense_Mutation_p.H12R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	188	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGGAAAAGCACACATGTGTG	0.443000														102			53		0	0	0.000147903	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670426	131670427	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:131670426_131670427GG>TT	uc003kwq.3	+	6	1227_1228	c.1062_1063GG>TT	c.(1060-1065)gtgggt>gtTTgt	p.G355C	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	355					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGACCTCAGTGGGTTACTTTGC	0.406000														489			17		0	0	6.4e-05	0	0
ITGA3	3675	broad.mit.edu	37	17	48157685	48157685	+	Silent	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:48157685C>T	uc010dbm.3	+	21	3230	c.2766C>T	c.(2764-2766)ccC>ccT	p.P922P	ITGA3_uc010dbl.3_Silent_p.P922P	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	922					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGATGCCCCCGTTGTCACCA	0.602000														5			12		0	0	5.01169e-05	0	0
PARD3	56288	broad.mit.edu	37	10	34690768	34690769	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr10:34690768_34690769GG>TT	uc010qej.2	-	5	1121_1122	c.791_792CC>AA	c.(790-792)ccc>cAA	p.P264Q	PARD3_uc010qep.2_Missense_Mutation_p.P220Q|PARD3_uc010qeq.2_Missense_Mutation_p.P220Q|PARD3_uc010qek.2_Missense_Mutation_p.P264Q|PARD3_uc010qel.2_Missense_Mutation_p.P264Q|PARD3_uc010qem.2_Missense_Mutation_p.P264Q|PARD3_uc010qen.2_Missense_Mutation_p.P264Q|PARD3_uc010qeo.2_Missense_Mutation_p.P264Q|PARD3_uc001ixo.2_5'UTR|PARD3_uc001ixr.2_Missense_Mutation_p.P264Q|PARD3_uc001ixq.2_Missense_Mutation_p.P264Q|PARD3_uc001ixp.2_Missense_Mutation_p.P264Q|PARD3_uc001ixt.1_Missense_Mutation_p.P85Q|PARD3_uc001ixu.2_Missense_Mutation_p.P220Q	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	264					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.P264P(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGAAAAGTTGGGTATATGCTC	0.421000														169			7		0	0	6.4e-05	0	0
KCNE1	3753	broad.mit.edu	37	21	35821640	35821641	+	Missense_Mutation	DNP	CG	AT	AT	rs150454912		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr21:35821640_35821641CG>AT	uc021wit.1	-	0	292_293	c.292_293CG>AT	c.(292-294)cgg>ATg	p.R98M	KCNE1_uc010gmp.3_Missense_Mutation_p.R98M|KCNE1_uc002ytz.3_Missense_Mutation_p.R98M|KCNE1_uc010gmq.3_Missense_Mutation_p.R98M|KCNE1_uc010gmr.3_Missense_Mutation_p.R98M|KCNE1_uc010gms.3_Missense_Mutation_p.R98M|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	98			R -> W (in LQT5).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTCCAGGACCCGGGCCTGGACA	0.550000														354			8		0	0	6.4e-05	0	0
HSPA6	3310	broad.mit.edu	37	1	161494813	161494813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:161494813C>T	uc001gaq.3	+	0	778	c.365C>T	c.(364-366)tCg>tTg	p.S122L	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	122					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGGAGATCTCGTCCATGGTG	0.627000														25			5		0	0	8.12818e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223177703	223177704	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:223177703_223177704GG>TT	uc001hnu.2	+	9	3290_3291	c.2964_2965GG>TT	c.(2962-2967)atgggg>atTTgg	p.988_989MG>IW		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	988					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCATTGCCATGGGGCTGTCAGT	0.485000														561			13		0	0	6.4e-05	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658501	72658501	+	Silent	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:72658501T>C	uc003txs.1	-	12	1411	c.483A>G	c.(481-483)gcA>gcG	p.A161A	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		tctcatcgattgcgatagaat	0.458000														49			4		0	0	1.23904e-05	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058118	114058118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:114058118G>A	uc003ebi.3	-	4	2140	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZBTB20_uc003ebj.3_Missense_Mutation_p.R581C|ZBTB20_uc010hqp.3_Missense_Mutation_p.R581C|ZBTB20_uc003ebk.3_Missense_Mutation_p.R581C|ZBTB20_uc003ebl.3_Missense_Mutation_p.R581C|ZBTB20_uc003ebm.3_Missense_Mutation_p.R581C|ZBTB20_uc003ebn.3_Missense_Mutation_p.R581C	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552000														74			35		0	0	7.51294e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223176933	223176934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:223176933_223176934GG>TT	uc001hnu.2	+	9	2520_2521	c.2194_2195GG>TT	c.(2194-2196)ggg>TTg	p.G732L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	732					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTGTAGGTGGGGCCTACATT	0.426000														675			14		0	0	6.4e-05	0	0
WDR47	22911	broad.mit.edu	37	1	109538376	109538377	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:109538376_109538377CC>AA	uc001dwl.3	-	7	1916_1917	c.1540_1541GG>TT	c.(1540-1542)ggg>TTg	p.G514L	WDR47_uc001dwi.3_Missense_Mutation_p.G507L|WDR47_uc001dwj.3_Missense_Mutation_p.G506L|WDR47_uc001dwk.2_Missense_Mutation_p.G478L|WDR47_uc010ovf.2_Missense_Mutation_p.G433L	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	506										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCCTTTGCTCCCATTACATTGC	0.376000														696			14		0	0	6.4e-05	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133906	21133908	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21133906_21133908CC>AA	uc002ztc.2	+	0	393_395	c.390_392CC>AA	c.(388-393)tccccg>tcAAg	p.P131del	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.P103del	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	103					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	TGTCAGTTTCCCCGACAGACTCT	0.522000														638			15		0	0	6.4e-05	0	0
RXFP2	122042	broad.mit.edu	37	13	32376479	32376480	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr13:32376479_32376480CC>AA	uc001utt.3	+	17	2273_2274	c.2202_2203CC>AA	c.(2200-2205)tccctg>tcAAtg	p.L735M	RXFP2_uc010aba.3_Missense_Mutation_p.L711M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	735						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTCCTCTTCCCTGAAACTTGG	0.366000														362			10		0	0	6.4e-05	0	0
C1orf106	55765	broad.mit.edu	37	1	200869294	200869294	+	Silent	SNP	T	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:200869294T>A	uc001gvo.3	+	3	540	c.498T>A	c.(496-498)gtT>gtA	p.V166V	C1orf106_uc010ppm.2_Silent_p.V81V	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	166										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCCCAAGGTTCGCCGCAGGA	0.617000														18			15		0	0	7.07596e-05	0	0
BSN	8927	broad.mit.edu	37	3	49693606	49693606	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:49693606T>C	uc003cxe.4	+	4	6731	c.6617T>C	c.(6616-6618)cTg>cCg	p.L2206P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2206					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCAACACTGCCCATCACC	0.582000														11			11		0	0	3.86212e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:10408756G>A	uc002gmo.3	-	19	2341	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000														42			20		0	0	0.000132079	0	0
CLCC1	23155	broad.mit.edu	37	1	109492524	109492525	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:109492524_109492525CC>AA	uc021ora.1	-	1	159_160	c.148_149GG>TT	c.(148-150)ggg>TTg	p.G50L	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.G50L|CLCC1_uc001dwf.1_Missense_Mutation_p.G50L|CLCC1_uc009wes.1_Missense_Mutation_p.G50L|CLCC1_uc009wet.1_Missense_Mutation_p.G50L|CLCC1_uc001dwh.1_Missense_Mutation_p.G50L	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	50						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ATCCTTTTCCCCTGAAATACCA	0.292000														509			13		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21250797	21250798	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:21250797_21250798CC>AA	uc002red.3	-	13	2097_2098	c.1969_1970GG>TT	c.(1969-1971)ggg>TTg	p.G657L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	657	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATAAGATTCCCTTCTATTTTG	0.411000														390			10		0	0	6.4e-05	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34042934	34042935	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:34042934_34042935CC>AA	uc003jio.3	-	0	437_438	c.296_297GG>TT	c.(295-297)tgg>tTT	p.W99F	C1QTNF3_uc003jin.3_Intron	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	0	Collagen-like.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GTACCTGGCCCCAGAATGTGGT	0.426000														459			13		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864154	144864155	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:144864154_144864155GG>TT	uc021ouh.1	-	35	6242_6243	c.5940_5941CC>AA	c.(5938-5943)tccctc>tcAAtc	p.L1981I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L1981I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L1875I|PDE4DIP_uc001elv.4_Missense_Mutation_p.L988I|PDE4DIP_uc001ema.3_Missense_Mutation_p.L168I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1981					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1980S(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTTCCTGGAGGGAAAGACGTT	0.470000			T	PDGFRB	MPD									544			12		0	0	6.4e-05	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750877	+	Missense_Mutation	DNP	CG	AT	AT	rs145721552	by1000genomes	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:222750876_222750877CG>AT	uc009xdz.2	-	4	723_724	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGTA	0.381000														771			18		0	0	6.4e-05	0	0
USP41	373856	broad.mit.edu	37	22	20721019	20721019	+	Silent	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:20721019C>T	uc011ahq.1	-	5	573	c.507G>A	c.(505-507)ttG>ttA	p.L169L	USP41_uc011ahp.1_Silent_p.L61L					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GGGTCAGCTTCAAGACCTGAA	0.488000														102			118		0	0	0.000147903	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20483995	20483995	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr20:20483995C>T	uc002wrz.3	-	35	5351	c.5208_splice	c.e35+1	p.K1736_splice	RALGAPA2_uc002wry.3_Splice_Site_p.K1351_splice|RALGAPA2_uc010zsg.2_Splice_Site_p.K1184_splice|RALGAPA2_uc002wsa.1_Splice_Site_p.K508_splice	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1736	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GACCCCTTACCTTTTTGGTGA	0.517000														23			16		0	0	9.7654e-05	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887314	155887315	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:155887314_155887315CC>AA	uc001fmi.1	-	10	1439_1440	c.1415_1416GG>TT	c.(1414-1416)cgg>cTT	p.R472L	KIAA0907_uc001fmj.1_Missense_Mutation_p.R472L|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	472								p.R472L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTCCAGATTCCCGTTCATCTGG	0.490000														222			8		0	0	6.4e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95906295	95906296	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr8:95906295_95906296GG>TT	uc003yhc.3	-	2	170_171	c.66_67CC>AA	c.(64-69)ccccaa>ccAAaa	p.Q23K	CCNE2_uc003yhd.2_Missense_Mutation_p.Q23K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	23					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGGGCTTCTTGGGGGGATTCCG	0.460000														489			13		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21247900	21247901	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:21247900_21247901CC>AA	uc002red.3	-	15	2468_2469	c.2340_2341GG>TT	c.(2338-2343)ttggga>ttTTga	p.780_781LG>F*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	780					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCTCCTCTCCCAAGATGCGGA	0.515000														257			9		0	0	6.4e-05	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629349	232629350	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:232629349_232629350CG>AT	uc001hvg.3	-	1	1698_1699	c.1540_1541CG>AT	c.(1540-1542)cgg>ATg	p.R514M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	514					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCTCTCTCCGGATGCTGACT	0.465000														327			9		0	0	6.4e-05	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118097	118097	+	RNA	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chrGL000205.1:118097T>C	uc002kgk.4	+	0		c.1475T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATCTCATCTGCACTCCTCT	0.572000														20			3		0	0	8.12818e-05	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548389	4548389	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr19:4548389A>G	uc010dud.2	-	12	1602	c.1340T>C	c.(1339-1341)cTg>cCg	p.L447P	SEMA6B_uc010xih.1_Missense_Mutation_p.L447P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	447	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.L447L(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGAACCCAGGAAGACAAC	0.662000														26			5		0	0	1.23904e-05	0	0
WDR12	55759	broad.mit.edu	37	2	203764315	203764316	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:203764315_203764316GG>TT	uc002uzl.3	-	3	1026_1027	c.276_277CC>AA	c.(274-279)ccccag>ccAAag	p.Q93K		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	93					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTCTGGCTGGGGTGCAGTAT	0.396000														411			10		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35759722	35759723	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35759722_35759723GG>TT	uc003jjo.3	+	24	3632_3633	c.3521_3522GG>TT	c.(3520-3522)tgg>tTT	p.W1174F	SPEF2_uc003jjp.1_Missense_Mutation_p.W660F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1174					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTATTACTGGGGAATGGAAA	0.386000														924			19		0	0	6.4e-05	0	0
PIGC	5279	broad.mit.edu	37	1	172410914	172410915	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:172410914_172410915CC>AA	uc021pey.1	-	0	848_849	c.848_849GG>TT	c.(847-849)tgg>tTT	p.W283F	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Missense_Mutation_p.W283F|PIGC_uc001gio.3_Missense_Mutation_p.W283F	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	283					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CAGCTTCATCCCAAGGCCCATG	0.421000														210			8		0	0	6.4e-05	0	0
FIGLA	344018	broad.mit.edu	37	2	71012684	71012685	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:71012684_71012685GG>TT	uc002she.1	-	2	476_477	c.471_472CC>AA	c.(469-474)acccaa>acAAaa	p.Q158K		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	Homo sapiens folliculogenesis specific basic helix-loop-helix (FIGLA), mRNA.	158					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						CTGATATGTTGGGTGATGTTTC	0.485000														336			15		0	0	6.4e-05	0	0
ABCA11P	79963	broad.mit.edu	37	4	435871	435871	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:435871G>C	uc003gaf.4	-	2	2707	c.2481C>G	c.(2479-2481)agC>agG	p.S827R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.S795R|ABCA11P_uc010ibe.3_Missense_Mutation_p.S783R	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		GTTTAGCAAAGCTTGAGGATG	0.368000														40			15		0	0	3.45872e-05	0	0
C5orf25	375484	broad.mit.edu	37	5	175717649	175717650	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:175717649_175717650CC>AA	uc003mds.4	+	3	1472_1473	c.1065_1066CC>AA	c.(1063-1068)acccag>acAAag	p.Q356K	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.Q375K|C5orf25_uc003mdu.1_Missense_Mutation_p.Q267K			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	356												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CTGACTTTACCCAGAATGATGT	0.505000														717			13		0	0	6.4e-05	0	0
KPNA2	3838	broad.mit.edu	37	17	66038420	66038421	+	Missense_Mutation	DNP	CC	AA	AA	rs149130880		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:66038420_66038421CC>AA	uc002jgk.3	+	4	654_655	c.522_523CC>AA	c.(520-525)ccccat>ccAAat	p.H175N	KPNA2_uc002jgl.3_Missense_Mutation_p.H175N	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	175	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	p.H175N(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGCATCTCCCCATGCTCACAT	0.455000														415			10		0	0	6.4e-05	0	0
PCDH20	64881	broad.mit.edu	37	13	61986652	61986652	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr13:61986652T>A	uc001vid.4	-	1	1944	c.1580A>T	c.(1579-1581)gAt>gTt	p.D527V	PCDH20_uc010thj.2_Missense_Mutation_p.D527V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	500	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCATTGTCATCTAAAAGTTG	0.403000														118			27		0	0	2.25844e-05	0	0
BCKDHB	594	broad.mit.edu	37	6	80838886	80838886	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr6:80838886G>T	uc003pjd.2	+	2	350	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	BCKDHB_uc003pje.2_Missense_Mutation_p.G95C	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	95					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGTAATATTTGGTGAAGATGT	0.259000														208			9		0.000151284	0.0094811	0.000151284	1	0
ESD	2098	broad.mit.edu	37	13	47365541	47365541	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr13:47365541A>G	uc001vbn.3	-	2	191	c.8T>C	c.(7-9)tTg>tCg	p.L3S		NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	3						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AATCTGCTTCAATGCCATTCT	0.313000														57			31		0	0	0.000109025	0	0
ZNF711	7552	broad.mit.edu	37	X	84526177	84526177	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chrX:84526177A>G	uc004eeq.3	+	9	2653	c.1767A>G	c.(1765-1767)gcA>gcG	p.A589A	ZNF711_uc004eep.3_Silent_p.A543A|ZNF711_uc004eeo.3_Silent_p.A543A|ZNF711_uc011mqy.1_Silent_p.A142A	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	543					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCAGGTGTGCAGATCAATCAA	0.403000														8			7		0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21233394	21233395	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:21233394_21233395CC>AA	uc002red.3	-	25	6473_6474	c.6345_6346GG>TT	c.(6343-6348)ctggga>ctTTga	p.G2116*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2116	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGAGTTTTCCCAGGGCTGCTC	0.386000														513			11		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	C	C	rs143761036	by1000genomes	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000														71			5		0	0	3.59834e-05	0	0
SLC1A3	6507	broad.mit.edu	37	5	36674161	36674162	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:36674161_36674162CC>AA	uc003jkj.4	+	4	1011_1012	c.535_536CC>AA	c.(535-537)cct>AAt	p.P179N	SLC1A3_uc011cox.2_Missense_Mutation_p.P72N|SLC1A3_uc010iuy.3_Missense_Mutation_p.P179N	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	179					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAACATGTTCCCTCCAAATCTG	0.361000														472			12		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223176639	223176640	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:223176639_223176640GG>TT	uc001hnu.2	+	9	2226_2227	c.1900_1901GG>TT	c.(1900-1902)ggg>TTg	p.G634L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	634	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCGATGCTTTGGGGTTTATGCG	0.455000														728			14		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35753854	35753855	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35753854_35753855CC>AA	uc003jjo.3	+	23	3570_3571	c.3459_3460CC>AA	c.(3457-3462)tccctg>tcAAtg	p.L1154M	SPEF2_uc003jjp.1_Missense_Mutation_p.L640M	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1154					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTCTTTTCCCTGATGCAGGT	0.490000														849			15		0	0	6.4e-05	0	0
DUXA	503835	broad.mit.edu	37	19	57666738	57666738	+	Silent	SNP	A	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr19:57666738A>T	uc002qoa.1	-	4	486	c.441T>A	c.(439-441)atT>atA	p.I147I		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		TTTGGAACCAAATCTAAGTGG	0.373000														38			9		0	0	1.12685e-05	0	0
PI4KA	5297	broad.mit.edu	37	22	21159354	21159355	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21159354_21159355CG>AT	uc002zsz.4	-	10	1354_1355	c.1093_1094CG>AT	c.(1093-1095)cgg>ATg	p.R365M	PI4KA_uc010gsq.2_Missense_Mutation_p.R451M	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	365					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)			ATTGTGGATCCGGTCTGCGTCA	0.559000														830			14		0	0	6.4e-05	0	0
GRK4	2868	broad.mit.edu	37	4	3039147	3039148	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:3039147_3039148CG>AT	uc003ggn.1	+	13	1909_1910	c.1454_1455CG>AT	c.(1453-1455)tcg>tAT	p.S485Y	GRK4_uc003ggo.1_Missense_Mutation_p.S485Y|GRK4_uc003ggp.1_Missense_Mutation_p.S453Y|GRK4_uc003ggq.1_Missense_Mutation_p.S453Y	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	485	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCAGTTCTCGGTGGTGAAAG	0.535000											OREG0016045	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			6		0	0	6.4e-05	0	0
POMZP3	22932	broad.mit.edu	37	7	76247562	76247563	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:76247562_76247563CG>AT	uc003uft.3	-	3	1029_1030	c.282_283CG>AT	c.(280-285)cccggg>ccATgg	p.G95W	LOC100133091_uc003ufs.2_Intron|POMZP3_uc003ufu.3_Missense_Mutation_p.G95W|POMZP3_uc011kgm.2_Non-coding_Transcript	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	Homo sapiens POM121 and ZP3 fusion (POMZP3), transcript variant 1, mRNA.	95										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GTATCTGGCCCGGGTCGAGGAA	0.500000														92			6		0	0	6.4e-05	0	0
CARD6	84674	broad.mit.edu	37	5	40853854	40853855	+	Missense_Mutation	DNP	GG	TT	TT	rs142385742		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:40853854_40853855GG>TT	uc003jmg.3	+	2	2495_2496	c.2420_2421GG>TT	c.(2419-2421)cgg>cTT	p.R807L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	807					apoptosis|regulation of apoptosis	intracellular		p.R807L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAGTTGCTCGGGGATGTCACT	0.470000														516			10		0	0	6.4e-05	0	0
ALDOC	230	broad.mit.edu	37	17	26901545	26901545	+	Silent	SNP	G	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:26901545G>A	uc002hbp.3	-	5	736	c.591C>T	c.(589-591)caC>caT	p.H197H	PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	197					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GTTTGAGGTCGTGGTCTCCAT	0.522000														90			47		0	0	0.000147903	0	0
CAPSL	133690	broad.mit.edu	37	5	35904741	35904742	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35904741_35904742GG>TT	uc003jjt.1	-	4	627_628	c.532_533CC>AA	c.(532-534)cct>AAt	p.P178N	CAPSL_uc003jju.1_Missense_Mutation_p.P178N	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	178	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GAACTCCTCAGGGGTCACCTGC	0.455000														789			15		0	0	6.4e-05	0	0
TFIP11	24144	broad.mit.edu	37	22	26892076	26892077	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:26892076_26892077CC>AA	uc003acr.2	-	10	2185_2186	c.1811_1812GG>TT	c.(1810-1812)tgg>tTT	p.W604F	TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.W604F|TFIP11_uc003act.2_Missense_Mutation_p.W604F	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	604					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.W604L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGAATGCTTCCCAGGAGCCAGG	0.554000														451			11		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92570935	92570936	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:92570935_92570936CG>AT	uc001pdj.4	+	15	10348_10349	c.10331_10332CG>AT	c.(10330-10332)ccg>cAT	p.P3444H	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAACAGCCCGGTGTTTACAC	0.470000										TCGA Ovarian(4;0.039)				398			10		0	0	6.4e-05	0	0
NIPBL	25836	broad.mit.edu	37	5	37045583	37045584	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:37045583_37045584CC>AA	uc003jkl.4	+	36	6881_6882	c.6382_6383CC>AA	c.(6382-6384)cca>AAa	p.P2128K	NIPBL_uc003jkk.4_Missense_Mutation_p.P2128K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2128					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.P2128Q(3)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAAGAGGACCCAAATAACACT	0.312000														625			13		0	0	6.4e-05	0	0
TPTE	7179	broad.mit.edu	37	21	10934960	10934960	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr21:10934960T>C	uc002yip.1	-	14	1201	c.833A>G	c.(832-834)cAc>cGc	p.H278R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260R|TPTE_uc002yir.1_Missense_Mutation_p.H240R|TPTE_uc010gkv.1_Missense_Mutation_p.H140R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	278	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACTCGATAGTGGTTTCGGTG	0.343000														155			19		0	0	1.64113e-05	0	0
PI4KA	5297	broad.mit.edu	37	22	21080785	21080785	+	Silent	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21080785C>T	uc002zsz.4	-	41	5073	c.4812G>A	c.(4810-4812)agG>agA	p.R1604R	PI4KA_uc002zsy.4_Silent_p.R414R	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1604					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)			CCTTGTCGTACCTGAGGGCCT	0.597000														50			11		0	0	6.40141e-05	0	0
NUP155	9631	broad.mit.edu	37	5	37292045	37292046	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:37292045_37292046CC>AA	uc003jku.1	-	34	4250_4251	c.4132_4133GG>TT	c.(4132-4134)ggg>TTg	p.G1378L	NUP155_uc003jkt.1_Missense_Mutation_p.G1319L|NUP155_uc010iuz.1_Missense_Mutation_p.G1314L	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1378					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTAAAATTCCCAGTGATGGCT	0.381000														335			11		0	0	6.4e-05	0	0
SLC45A3	85414	broad.mit.edu	37	1	205588103	205588103	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:205588103A>G	uc001hcy.2	-	3	2429	c.1179T>C	c.(1177-1179)ggT>ggC	p.G393G	SLC45A3_uc021pid.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGTGTTAGCACCTTGCAGTC	0.458000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									40			12		0	0	1.49906e-05	0	0
NSD1	64324	broad.mit.edu	37	5	176694686	176694687	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:176694686_176694687GG>TT	uc003mfr.4	+	14	5408_5409	c.5270_5271GG>TT	c.(5269-5271)agg>aTT	p.R1757I	NSD1_uc003mft.4_Missense_Mutation_p.R1488I|NSD1_uc003mfs.1_Missense_Mutation_p.R1654I|NSD1_uc011dfx.2_Missense_Mutation_p.R1405I	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1757	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)		CCACACTACAGGGAGATTGTCT	0.436000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				256			9		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35759775	35759776	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35759775_35759776CC>AA	uc003jjo.3	+	24	3685_3686	c.3574_3575CC>AA	c.(3574-3576)cct>AAt	p.P1192N	SPEF2_uc003jjp.1_Missense_Mutation_p.P678N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1192					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTCGAATCCCTTTGGTCCAA	0.386000														876			15		0	0	6.4e-05	0	0
MIA3	375056	broad.mit.edu	37	1	222794543	222794544	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:222794543_222794544CG>AT	uc001hnl.3	+	1	185_186	c.176_177CG>AT	c.(175-177)ccg>cAT	p.P59H		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	59	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTCACAGGCCCGGATTGTCGTT	0.391000														443			14		0	0	6.4e-05	0	0
CDH10	1008	broad.mit.edu	37	5	24535880	24535881	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:24535880_24535881CC>AA	uc003jgr.2	-	3	1083_1084	c.577_578GG>TT	c.(577-579)ggg>TTg	p.G193L	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	193	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G193W(4)		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)		GGCGCTGTTCCCATATGAAGGG	0.465000										HNSCC(23;0.051)				635			24		0	0	6.4e-05	0	0
MAGI2	9863	broad.mit.edu	37	7	77973259	77973259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:77973259C>T	uc003ugx.3	-	8	1498	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	MAGI2_uc003ugy.3_Missense_Mutation_p.R415Q|MAGI2_uc010ldx.1_Missense_Mutation_p.R24Q|MAGI2_uc010ldy.1_Missense_Mutation_p.R24Q|MAGI2_uc011kgr.1_Missense_Mutation_p.R247Q|MAGI2_uc011kgs.1_Missense_Mutation_p.R252Q	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	415						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATGCATCCCGGGTGAAGAG	0.453000														36			8		0	0	2.17888e-05	0	0
G6PC2	57818	broad.mit.edu	37	2	169764459	169764460	+	Missense_Mutation	DNP	CG	AT	AT	rs137857125	byFrequency	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:169764459_169764460CG>AT	uc002uem.3	+	4	1030_1031	c.938_939CG>AT	c.(937-939)ccg>cAT	p.P313H	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.P197H	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	313					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CTCCAGATCCCGACTCACGAAG	0.450000														138			6		0	0	6.4e-05	0	0
UPF2	26019	broad.mit.edu	37	10	12071484	12071485	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr10:12071484_12071485CC>AA	uc001ila.3	-	1	878_879	c.404_405GG>TT	c.(403-405)tgg>tTT	p.W135F	UPF2_uc001ilb.3_Missense_Mutation_p.W135F|UPF2_uc001ilc.3_Missense_Mutation_p.W135F|UPF2_uc009xiz.2_Missense_Mutation_p.W135F	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	135	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GATGTCGTTCCCAAGCTTCCTG	0.371000														395			9		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438670	120438671	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:120438670_120438671CC>AA	uc001eij.3	-	0	477_478	c.289_290GG>TT	c.(289-291)ggg>TTg	p.G97L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	97					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGCAGTTCCCCATGTTCTGTG	0.490000														449			12		0	0	6.4e-05	0	0
TP53INP1	94241	broad.mit.edu	37	8	95942782	95942783	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr8:95942782_95942783CC>AA	uc003yhg.3	-	3	1031_1032	c.647_648GG>TT	c.(646-648)agg>aTT	p.R216I	TP53INP1_uc003yhh.3_3'UTR	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	216					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GGTGGCAATCCCTGGTAAGATT	0.475000														477			13		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35740106	35740107	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35740106_35740107GG>TT	uc003jjo.3	+	21	3260_3261	c.3149_3150GG>TT	c.(3148-3150)agg>aTT	p.R1050I	SPEF2_uc003jjp.1_Missense_Mutation_p.R536I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1050					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGCATCTGAGGGAAGACCAGC	0.332000														873			18		0	0	6.4e-05	0	0
DIRC2	84925	broad.mit.edu	37	3	122598138	122598139	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:122598138_122598139CG>AT	uc003efw.4	+	8	1489_1490	c.1350_1351CG>AT	c.(1348-1353)cccggg>ccATgg	p.G451W	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.G289W|BC042374_uc003efx.1_Non-coding_Transcript	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	451					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGTGCCTTCCCGGGTCGTGTTT	0.455000														355			9		0	0	6.4e-05	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515772	140515773	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:140515772_140515773CG>AT	uc003liq.3	+	0	973_974	c.756_757CG>AT	c.(754-759)cccgag>ccATag	p.E253*		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAGGTGCCCGAGAACAGCCC	0.500000														255			11		0	0	6.4e-05	0	0
NIPBL	25836	broad.mit.edu	37	5	36962253	36962254	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:36962253_36962254GG>TT	uc003jkl.4	+	5	986_987	c.487_488GG>TT	c.(487-489)ggg>TTg	p.G163L	NIPBL_uc003jkk.4_Missense_Mutation_p.G163L|NIPBL_uc003jkm.1_Missense_Mutation_p.G42L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	163					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACAAGCTCTGGGAACAGATTT	0.426000														733			23		0	0	6.4e-05	0	0
ASCC3	10973	broad.mit.edu	37	6	101127554	101127554	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr6:101127554A>G	uc003pqk.3	-	13	2555	c.2226T>C	c.(2224-2226)tgT>tgC	p.C742C	ASCC3_uc011eai.1_Silent_p.C644C	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	742	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAATATGGCCACAATTTTTTG	0.368000														84			5		0	0	1.23904e-05	0	0
C16orf78	123970	broad.mit.edu	37	16	49407922	49407922	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr16:49407922A>C	uc002efr.3	+	0	115	c.72A>C	c.(70-72)gaA>gaC	p.E24D		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	24										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGACTGCTGAAGATAGGCGCA	0.517000														70			21		0	0	4.16121e-05	0	0
CASR	846	broad.mit.edu	37	3	121994772	121994774	+	Missense_Mutation	DNP	CC	AA	AA	rs150337940	byFrequency	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:121994772_121994774CC>AA	uc003eew.4	+	4	1929_1931	c.1491_1493CC>AA	c.(1489-1494)tcccca>tcAAa	p.P498del	CASR_uc003eev.4_Missense_Mutation_p.P498del	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	498					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCACCTCTCCCCAGAGGATGGC	0.478000														104			6		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35759742	35759743	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35759742_35759743CC>AA	uc003jjo.3	+	24	3652_3653	c.3541_3542CC>AA	c.(3541-3543)cca>AAa	p.P1181K	SPEF2_uc003jjp.1_Missense_Mutation_p.P667K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1181					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.P1181Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTAAAATCCCAGTAGAGGAC	0.386000														869			16		0	0	6.4e-05	0	0
WDR47	22911	broad.mit.edu	37	1	109554217	109554218	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:109554217_109554218CG>AT	uc001dwl.3	-	4	847_848	c.471_472CG>AT	c.(469-474)gccgag>gcATag	p.E158*	WDR47_uc001dwi.3_Nonsense_Mutation_p.E151*|WDR47_uc001dwj.3_Nonsense_Mutation_p.E151*|WDR47_uc001dwk.2_Nonsense_Mutation_p.E123*|WDR47_uc010ovf.2_Nonsense_Mutation_p.E78*	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	151										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCTTAAACTCGGCATGATTGG	0.441000														573			14		0	0	6.4e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126371456	126371456	+	Silent	SNP	T	C	C			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:126371456T>C	uc003ifj.4	+	8	9285	c.9285T>C	c.(9283-9285)agT>agC	p.S3095S	FAT4_uc011cgp.2_Silent_p.S1393S|FAT4_uc003ifi.1_Silent_p.S573S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3095	Cadherin 30.				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						GCCACATGAGTGCAACCATCC	0.443000														38			18		0	0	0.000132079	0	0
CHMP1B	57132	broad.mit.edu	37	18	11852107	11852107	+	Silent	SNP	G	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr18:11852107G>A	uc002kqe.3	+	0	719	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Intron|GNAL_uc010dkz.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	Homo sapiens charged multivesicular body protein 1B (CHMP1B), mRNA.	199	Interaction with SPAST.|Interaction with VPS4B.|Interaction with VTA1.				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						GGGATCAAGTGTGACGGCAGA	0.587000														8			5		0	0	3.59834e-05	0	0
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	G	G	rs121913512		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:55594221A>G	uc010igr.3	+	12	2011	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E	KIT_uc010igs.3_Missense_Mutation_p.K638E|KIT_uc010igt.2_Missense_Mutation_p.K91E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(100)|p.K642Q(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					61			312		0	0	0.000147903	0	0
WDR16	146845	broad.mit.edu	37	17	9515650	9515650	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:9515650C>G	uc010coc.3	+	8	1138	c.909C>G	c.(907-909)atC>atG	p.I303M	WDR16_uc002gly.3_Missense_Mutation_p.I293M|WDR16_uc002glz.3_Missense_Mutation_p.I225M			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	293						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGCGGCATCACTTCTATCA	0.433000														46			19		0	0	9.7654e-05	0	0
NMUR2	56923	broad.mit.edu	37	5	151771827	151771827	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:151771827A>G	uc003luv.2	-	3	1339	c.1173T>C	c.(1171-1173)tcT>tcC	p.S391S		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	391					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGGAGGTGAGAGTTGTGCA	0.478000														293			8		0	0	2.17888e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551904	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:100551902_100551904GG>TT	uc003uxl.1	+	0	1153_1155	c.353_355GG>TT	c.(352-357)agggga>aTTga	p.118_119RG>I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTCACTAGGGGAAGTACGTC	0.433000														545			14		0	0	6.4e-05	0	0
TTF1	7270	broad.mit.edu	37	9	135273619	135273619	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr9:135273619A>G	uc004cbl.3	-	3	1755	c.1686T>C	c.(1684-1686)agT>agC	p.S562S	TTF1_uc004cbm.3_Silent_p.S47S|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	562					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCTTGTCTGCACTCTCAATGC	0.383000														39			13		0	0	0.000151284	0	0
DMC1	11144	broad.mit.edu	37	22	38917699	38917700	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:38917699_38917700CC>AA	uc003avz.1	-	12	1041_1042	c.866_867GG>TT	c.(865-867)ggg>gTT	p.G289V	DMC1_uc011anv.1_Missense_Mutation_p.G234V	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	289					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GAATGTGTCCCCCAATGGGTTT	0.376000								Homologous recombination						583			14		0	0	6.4e-05	0	0
LZTR1	8216	broad.mit.edu	37	22	21350313	21350314	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21350313_21350314GG>TT	uc002zto.3	+	17	2234_2235	c.2131_2132GG>TT	c.(2131-2133)ggg>TTg	p.G711L	LZTR1_uc002ztn.3_Missense_Mutation_p.G670L|LZTR1_uc011ahy.2_Missense_Mutation_p.G692L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	711	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATCTCCATCGGGGAGATGGTG	0.604000														673			14		0	0	6.4e-05	0	0
CASK	8573	broad.mit.edu	37	X	41646527	41646527	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chrX:41646527C>G	uc004dfl.4	-	2	228	c.182G>C	c.(181-183)cGg>cCg	p.R61P	CASK_uc004dfm.4_Missense_Mutation_p.R61P|CASK_uc004dfn.4_Missense_Mutation_p.R61P	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	61	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACTGGCTTCCCGCTTTAGATC	0.363000														57			4		0	0	2.56e-06	0	0
SLC38A8	146167	broad.mit.edu	37	16	84066960	84066960	+	Missense_Mutation	SNP	C	A	A	rs142152244		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr16:84066960C>A	uc002fhg.1	-	2	503	c.503G>T	c.(502-504)cGg>cTg	p.R168L		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	168					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGCGATCTCCCGCGGGGCAGA	0.652000														74			7		8.12818e-05	0.00512467	8.12818e-05	1	0
DDX17	10521	broad.mit.edu	37	22	38890920	38890921	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:38890920_38890921GG>TT	uc003avy.4	-	6	1114_1115	c.1011_1012CC>AA	c.(1009-1014)ccccag>ccAAag	p.Q338K	DDX17_uc003avx.4_Missense_Mutation_p.Q338K|DDX17_uc011anu.2_Missense_Mutation_p.Q251K	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	259	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTACGGATCTGGGGTTCAAACC	0.416000														519			14		0	0	6.4e-05	0	0
MFF	56947	broad.mit.edu	37	2	228197195	228197196	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:228197195_228197196CC>AA	uc002vos.3	+	4	732_733	c.320_321CC>AA	c.(319-321)ccc>cAA	p.P107Q	MFF_uc002vot.3_Missense_Mutation_p.P81Q|MFF_uc002vow.3_Missense_Mutation_p.P81Q|MFF_uc002voy.3_Missense_Mutation_p.P107Q|MFF_uc021vxu.1_Missense_Mutation_p.P81Q|MFF_uc002voz.3_Missense_Mutation_p.P81Q	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	107						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CAGTCAACTCCCTTTAAACCCC	0.406000														303			10		0	0	6.4e-05	0	0
CTNND2	1501	broad.mit.edu	37	5	11098853	11098854	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:11098853_11098854CC>AA	uc003jfa.1	-	14	2615_2616	c.2470_2471GG>TT	c.(2470-2472)gga>TTa	p.G824L	CTNND2_uc010itt.2_Missense_Mutation_p.G733L|CTNND2_uc011cmy.1_Missense_Mutation_p.G487L|CTNND2_uc011cmz.1_Missense_Mutation_p.G391L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G391L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	824					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						AGGTCCTACTCCATCCCACTGG	0.470000														346			10		0	0	6.4e-05	0	0
SYPL2	284612	broad.mit.edu	37	1	110019468	110019469	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:110019468_110019469GG>TT	uc001dxp.3	+	3	691_692	c.325_326GG>TT	c.(325-327)ggg>TTg	p.G109L	SYPL2_uc001dxo.2_Missense_Mutation_p.G109L|SYPL2_uc010ovk.2_Missense_Mutation_p.G109L|SYPL2_uc001dxq.2_Missense_Mutation_p.G17L	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	109	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCACCTCATGGGGGACTTCTCT	0.564000														314			10		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21235400	21235401	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:21235400_21235401GG>TT	uc002red.3	-	25	4467_4468	c.4339_4340CC>AA	c.(4339-4341)cca>AAa	p.P1447K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1447					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTGAGACTGGGTTGTTTCCA	0.381000														486			15		0	0	6.4e-05	0	0
PI4KA	5297	broad.mit.edu	37	22	21104201	21104202	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21104201_21104202GG>TT	uc002zsz.4	-	27	3321_3322	c.3060_3061CC>AA	c.(3058-3063)tcccac>tcAAac	p.H1021N		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1021					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)			ACCTGCAGGTGGGACTTGGTGA	0.490000														804			19		0	0	6.4e-05	0	0
RBM6	10180	broad.mit.edu	37	3	50106193	50106193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:50106193G>A	uc003cyc.3	+	17	3262	c.3014G>A	c.(3013-3015)cGa>cAa	p.R1005Q	RBM6_uc003cyd.3_Missense_Mutation_p.R483Q|RBM6_uc011bdi.2_Missense_Mutation_p.R347Q|RBM6_uc003cye.3_Missense_Mutation_p.R483Q|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1005					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAGAGAACGAGAGGTAAAC	0.433000														35			13		0	0	3.45872e-05	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955883	35955884	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:35955883_35955884CC>AA	uc003jjv.2	-	5	1351_1352	c.1158_1159GG>TT	c.(1156-1161)gtggga>gtTTga	p.G387*	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Nonsense_Mutation_p.G387*|UGT3A1_uc011cor.2_Nonsense_Mutation_p.G353*	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	387						integral to membrane	glucuronosyltransferase activity	p.V386V(2)		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)			ACTGGTAATCCCACCATGGGCA	0.505000														813			15		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179429878	179429878	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:179429878C>A	uc021vsy.1	-	274	73502	c.73277G>T	c.(73276-73278)tGg>tTg	p.W24426L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.W18121L|TTN_uc021vta.1_Missense_Mutation_p.W18054L|TTN_uc021vtb.1_Missense_Mutation_p.W17929L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25353	Fibronectin type-III 77.						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)			TGGAGGTTCCCAAGATATGAC	0.453000														72			6		8.12818e-05	0.00512467	8.12818e-05	1	0
HEPHL1	341208	broad.mit.edu	37	11	93796824	93796824	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:93796824A>G	uc001pep.2	+	2	723	c.566A>G	c.(565-567)cAc>cGc	p.H189R		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	189	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.S189S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACCATTCGCACATCGACGCC	0.537000														58			11		0	0	1.49906e-05	0	0
FLT1	2321	broad.mit.edu	37	13	29005390	29005390	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr13:29005390T>G	uc001usb.3	-	6	1156	c.871A>C	c.(871-873)Ata>Cta	p.I291L	FLT1_uc010aar.1_Missense_Mutation_p.I291L|FLT1_uc001usc.3_Missense_Mutation_p.I291L|FLT1_uc010tdp.1_Missense_Mutation_p.I291L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	291	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTGTAGAATATGTTGGCATGG	0.368000														53			39		0	0	8.96297e-05	0	0
P4HA2	8974	broad.mit.edu	37	5	131544916	131544917	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:131544916_131544917GG>TT	uc003kwh.3	-	6	1381_1382	c.817_818CC>AA	c.(817-819)cca>AAa	p.P273K	P4HA2_uc003kwg.3_Missense_Mutation_p.P273K|P4HA2_uc003kwi.3_Missense_Mutation_p.P273K|P4HA2_uc003kwk.3_Missense_Mutation_p.P273K|P4HA2_uc003kwl.3_Missense_Mutation_p.P273K|P4HA2_uc003kwj.3_Missense_Mutation_p.P273K	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	273						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GATGCCTTCTGGGGTTGCTAGC	0.515000														202			8		0	0	6.4e-05	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468710	35468711	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr21:35468710_35468711CG>AT	uc021wir.1	+	0	1213_1214	c.1213_1214CG>AT	c.(1213-1215)cgg>ATg	p.R405M	SLC5A3_uc002yto.3_Missense_Mutation_p.R405M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	405						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CGCAAGCTCCCGGGAGTTAATG	0.475000														450			12		0	0	6.4e-05	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467539	35467540	+	Missense_Mutation	DNP	CC	AA	AA	rs148860859		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr21:35467539_35467540CC>AA	uc021wir.1	+	0	42_43	c.42_43CC>AA	c.(40-45)gccctg>gcAAtg	p.L15M	SLC5A3_uc002yto.3_Missense_Mutation_p.L15M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	15						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCATAGTGGCCCTGTATTTTAT	0.441000														417			11		0	0	6.4e-05	0	0
RPTN	126638	broad.mit.edu	37	1	152128191	152128192	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:152128191_152128192GG>TT	uc001ezs.1	-	2	1448_1449	c.1383_1384CC>AA	c.(1381-1386)tcccac>tcAAac	p.H462N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	462	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S461S(2)|p.H462N(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAGTGGGAACTCTGGC	0.515000														579			14		0	0	6.4e-05	0	0
TTC17	55761	broad.mit.edu	37	11	43515376	43515377	+	Nonsense_Mutation	DNP	CG	AT	AT	rs28709458		TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:43515376_43515377CG>AT	uc001mxi.3	+	23	3418_3419	c.3348_3349CG>AT	c.(3346-3351)cccgag>ccATag	p.E1117*	TTC17_uc010rfj.2_Nonsense_Mutation_p.E1117*|TTC17_uc001mxl.3_Nonsense_Mutation_p.E173*	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1117							binding	p.E1117*(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGCTTCAGCCCGAGTTTGTCCC	0.500000														212			10		0	0	6.4e-05	0	0
PDZD2	23037	broad.mit.edu	37	5	32053950	32053951	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:32053950_32053951CC>AA	uc003jhl.3	+	9	2249_2250	c.1861_1862CC>AA	c.(1861-1863)cca>AAa	p.P621K	PDZD2_uc003jhm.3_Missense_Mutation_p.P621K|PDZD2_uc011cnx.1_Missense_Mutation_p.P447K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	621	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P621Q(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACCATCTTCCCAAATGGATCA	0.490000														410			13		0	0	6.4e-05	0	0
IGFL3	388555	broad.mit.edu	37	19	46627194	46627194	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr19:46627194A>G	uc002pea.1	-	2	324	c.299T>C	c.(298-300)cTg>cCg	p.L100P		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	100						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CTTCATACCCAGAACCCTCAA	0.542000														120			7		0	0	0.000157383	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22842	22843	+	RNA	DNP	TG	CA	CA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chrGL000241.1:22842_22843TG>CA	uc011mgv.2	-	5		c.577_578CA>TG								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GATTTCAGGGTGATTCTGTACA	0.356000														36			12		0	0	6.4e-05	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399557	13399557	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:13399557T>G	uc002gob.1	-	1	1976	c.1178A>C	c.(1177-1179)aAg>aCg	p.K393T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	393						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAACTTGAGGTTGAA	0.478000														45			13		0	0	9.7654e-05	0	0
OR4F6	390648	broad.mit.edu	37	15	102346042	102346043	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr15:102346042_102346043GG>TT	uc010utr.2	+	0	120_121	c.120_121GG>TT	c.(118-123)atggga>atTTga	p.40_41MG>I*		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39L(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAGCCTGATGGGAAATCTCCT	0.485000														208			10		0	0	6.4e-05	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681606	44681607	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:44681606_44681607CC>AA	uc003bet.2	-	3	433_434	c.300_301GG>TT	c.(298-303)ttggga>ttTTga	p.100_101LG>F*		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	100						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCCACACTCCCAACAAGGCGG	0.520000														442			12		0	0	6.4e-05	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735314	109735314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:109735314C>T	uc021orb.1	+	13	1986	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	KIAA1324_uc009wex.2_Missense_Mutation_p.R539C|KIAA1324_uc010ovg.2_Missense_Mutation_p.R487C|KIAA1324_uc009wey.3_Missense_Mutation_p.R502C|KIAA1324_uc001dwr.3_Missense_Mutation_p.R239C	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	589					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTCCTACTGCCGTCCCTGTGC	0.522000														257			106		0	0	0.000147903	0	0
COPG2	26958	broad.mit.edu	37	7	130295969	130295970	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:130295969_130295970CC>AA	uc003vqh.1	-	8	681_682	c.591_592GG>TT	c.(589-594)ttggga>ttTTga	p.197_198LG>F*		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	197					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					TACAGGACTCCCAATGCATGGT	0.342000														409			14		0	0	6.4e-05	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202244	9202245	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:9202244_9202245CG>AT	uc003jek.2	-	8	1466_1467	c.754_755CG>AT	c.(754-756)cgg>ATg	p.R252M		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	252	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A251A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTTGCACACCCGGGCAGCTCTG	0.510000														583			16		0	0	6.4e-05	0	0
CRKL	1399	broad.mit.edu	37	22	21288356	21288357	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21288356_21288357CC>AA	uc002ztf.2	+	1	1110_1111	c.601_602CC>AA	c.(601-603)cca>AAa	p.P201K		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	201					JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TTATGGGATCCCAGAACCTGCT	0.520000														859			16		0	0	6.4e-05	0	0
NUP37	79023	broad.mit.edu	37	12	102512168	102512168	+	Silent	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr12:102512168A>G	uc001tjc.3	-	0	194	c.129T>C	c.(127-129)taT>taC	p.Y43Y	NUP37_uc009zub.1_Silent_p.Y43Y|PARPBP_uc001tjd.3_5'Flank|PARPBP_uc001tje.3_5'Flank|PARPBP_uc001tjf.3_5'Flank|PARPBP_uc010swa.2_5'Flank|PARPBP_uc001tjg.3_5'Flank|PARPBP_uc001tjh.3_5'Flank|PARPBP_uc010swb.2_5'Flank|PARPBP_uc001tji.3_5'Flank	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	43					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding	p.N42D(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAATGACCACATAATTATTGC	0.388000														113			26		0	0	0.000117367	0	0
WDR11	55717	broad.mit.edu	37	10	122622312	122622313	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr10:122622312_122622313GG>TT	uc021pzt.1	+	4	838_839	c.592_593GG>TT	c.(592-594)ggg>TTg	p.G198L	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	198						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCAGGCCCTGGGAAAAAAGTT	0.431000														186			8		0	0	6.4e-05	0	0
STAG3L2	442582	broad.mit.edu	37	7	74299487	74299487	+	RNA	SNP	G	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr7:74299487G>T	uc011kfj.2	-	6		c.796C>A						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AGCAGAAGCTGGAAGAAAGTC	0.537000														101			6		8.12818e-05	0.00512467	8.12818e-05	1	0
MGC16703	113691	broad.mit.edu	37	22	21363161	21363162	+	RNA	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21363161_21363162CC>AA	uc002zty.4	-	2		c.1294_1295GG>TT			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		GGACCACATCCCCTCTGTACAA	0.550000														696			15		0	0	6.4e-05	0	0
CDH10	1008	broad.mit.edu	37	5	24491840	24491841	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:24491840_24491841GG>TT	uc003jgr.2	-	10	2226_2227	c.1720_1721CC>AA	c.(1720-1722)cca>AAa	p.P574K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	574	Cadherin 5.				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)		GCTCTGAATTGGGTAATCATTG	0.455000										HNSCC(23;0.051)				575			13		0	0	6.4e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														98			6		0	0	3.59834e-05	0	0
FLG	2312	broad.mit.edu	37	1	152285273	152285274	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:152285273_152285274GG>TT	uc001ezu.1	-	2	2124_2125	c.2088_2089CC>AA	c.(2086-2091)tcccat>tcAAat	p.H697N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	697	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCATGGGATGACGCAG	0.554000									Ichthyosis					412			13		0	0	6.4e-05	0	0
ITGAV	3685	broad.mit.edu	37	2	187511592	187511592	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:187511592A>T	uc002upq.3	+	12	1615	c.1339A>T	c.(1339-1341)Aat>Tat	p.N447Y	ITGAV_uc010frs.3_Missense_Mutation_p.N411Y|ITGAV_uc010zfv.2_Missense_Mutation_p.N401Y	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	447					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TATAGACAAAAATGGATATCC	0.398000														14			8		0	0	1.12685e-05	0	0
HMGCR	3156	broad.mit.edu	37	5	74643039	74643040	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:74643039_74643040GG>TT	uc011cst.2	+	5	773_774	c.521_522GG>TT	c.(520-522)agg>aTT	p.R174I	HMGCR_uc003kdp.3_Missense_Mutation_p.R154I|HMGCR_uc003kdq.3_Missense_Mutation_p.R154I|HMGCR_uc010izn.1_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	154					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GATGAAGTAAGGGAAAATATTG	0.366000														540			14		0	0	6.4e-05	0	0
SRRD	402055	broad.mit.edu	37	22	26884183	26884184	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:26884183_26884184GG>TT	uc010gve.3	+	2	446_447	c.439_440GG>TT	c.(439-441)ggg>TTg	p.G147L	SRRD_uc003acp.4_Missense_Mutation_p.G140L	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	147					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTACGGCATTGGGAACTTTGCC	0.455000														429			13		0	0	6.4e-05	0	0
SMCHD1	23347	broad.mit.edu	37	18	2760728	2760728	+	Silent	SNP	C	T	T			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr18:2760728C>T	uc002klm.4	+	34	4614	c.4425C>T	c.(4423-4425)aaC>aaT	p.N1475N	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1475					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATATTCTCAACAGTGAACAGG	0.294000														52			13		0	0	1.49906e-05	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239110	45239111	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr20:45239110_45239111GG>TT	uc002xsf.2	-	2	555_556	c.515_516CC>AA	c.(514-516)ccc>cAA	p.P172Q	SLC13A3_uc010ghn.2_Missense_Mutation_p.P141Q|SLC13A3_uc010zxx.2_Missense_Mutation_p.P74Q|SLC13A3_uc010zxw.2_Missense_Mutation_p.P172Q|SLC13A3_uc002xsg.2_Missense_Mutation_p.P125Q|SLC13A3_uc010gho.2_Missense_Mutation_p.P125Q|SLC13A3_uc002xsi.4_Missense_Mutation_p.P125Q	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	172						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.D171V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TCTCCTGGCTGGGGTCCTTTCG	0.530000														205			7		0	0	6.4e-05	0	0
PDE2A	5138	broad.mit.edu	37	11	72353367	72353368	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:72353367_72353368CC>AA	uc010rrc.2	-	1	320_321	c.74_75GG>TT	c.(73-75)cgg>cTT	p.R25L	PDE2A_uc001oso.3_5'UTR|PDE2A_uc010rra.2_Missense_Mutation_p.R18L|PDE2A_uc001osn.3_Missense_Mutation_p.R18L|PDE2A_uc010rrb.2_Missense_Mutation_p.R16L|PDE2A_uc010rrd.2_Missense_Mutation_p.R25L|PDE2A_uc001osq.3_Non-coding_Transcript	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	25					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCTGCTGGCCCCGCCTGAGGAA	0.743000														95			7		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437263	120437264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:120437263_120437264GG>TT	uc001eij.3	-	0	1884_1885	c.1696_1697CC>AA	c.(1696-1698)cct>AAt	p.P566N		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	566	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAAATCAGGGATGGTTTCA	0.386000														604			16		0	0	6.4e-05	0	0
TLE4	7091	broad.mit.edu	37	9	82321762	82321762	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr9:82321762C>G	uc004ald.3	+	10	1712	c.863C>G	c.(862-864)tCt>tGt	p.S288C	TLE4_uc004alc.3_Missense_Mutation_p.S295C|TLE4_uc010mpr.3_Missense_Mutation_p.S174C|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.S263C|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Missense_Mutation_p.S234C	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.K287Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGTCCAGCCTCTATTGCATCT	0.522000														89			50		0	0	0.000147903	0	0
AHCTF1	25909	broad.mit.edu	37	1	247019110	247019111	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr1:247019110_247019111delAC	uc001ibv.2	-	30	4399_4400	c.4302_4303delGT	c.(4300-4305)aagtccfs	p.K1434fs	AHCTF1_uc009xgs.1_Frame_Shift_Del_p.K286fs|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1425	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGTACCTTGGACTTCTGGGTGA	0.371													---	86	---	---	33	---					
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:88874269_88874270delCT	uc002stc.4	-	12	3033_3034	c.2731_2732delAG	c.(2731-2733)aggfs	p.R911fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	911	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													---	601	---	---	10	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													---	382	---	---	8	---					
ITGA4	3676	broad.mit.edu	37	2	182343491	182343492	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr2:182343491_182343492insA	uc002unu.3	+	4	1327_1328	c.564_565insA	c.(562-567)gtgaaafs	p.V188fs	ITGA4_uc010zfl.1_Frame_Shift_Ins_p.V188fs	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	188					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAGATTATGTGAAAAAATTTGG	0.243													---	29	---	---	9	---					
SLITRK3	22865	broad.mit.edu	37	3	164906282	164906282	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr3:164906282delA	uc003fej.4	-	1	2781	c.2337delT	c.(2335-2337)ggtfs	p.G779fs	SLITRK3_uc003fek.3_Frame_Shift_Del_p.G779fs|SLITRK3_uc021xgy.1_Frame_Shift_Del_p.G779fs	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	779						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGTCCCTGGACCCCCACGTT	0.562										HNSCC(40;0.11)			---	53	---	---	14	---					
PDGFRA	5156	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:54319248_54319249delAG	uc003gzy.3	+	15	1633_1634	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.R477fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.R409fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.R448fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.P67fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R487fs*3(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	agaACGCACCAGAGAGAGAGAG	0.470			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			---	120	---	---	8	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr4:56336954delA	uc003haz.1	-	8	1294	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(4)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													---	462	---	---	7	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr5:24492973delA	uc003jgr.2	-	9	2083	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			---	3601	---	---	14	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	11	---	---	5	---					
ENDOV	284131	broad.mit.edu	37	17	78397370	78397370	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr17:78397370delG	uc021ueo.1	+	4	482	c.454delG	c.(454-456)gggfs	p.G152fs	ENDOV_uc002jyk.3_Frame_Shift_Del_p.G107fs|ENDOV_uc002jyl.2_Frame_Shift_Del_p.G107fs|ENDOV_uc021uep.1_Non-coding_Transcript|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Non-coding_Transcript	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	152					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCCGTGTGTTGGGGTGGCCAA	0.652								Direct reversal of damage					---	4	---	---	2	---					
SLC52A3	113278	broad.mit.edu	37	20	744613	744613	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr20:744613delC	uc002wed.4	-	2	941	c.602delG	c.(601-603)ggafs	p.G201fs	SLC52A3_uc002wee.2_Frame_Shift_Del_p.G201fs	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	201					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGCTTCCATTCCGGGGAGGGC	0.587													---	4	---	---	2	---					
CRKL	1399	broad.mit.edu	37	22	21304075	21304075	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q3-06A-11D-A196-08	TCGA-D3-A1Q3-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0955adc-8469-48a3-a66e-b0059adda3a6	ea02a2db-bb1c-43b6-8977-7289dd750b3c	g.chr22:21304075delT	uc002ztf.2	+	2	1363	c.854delT	c.(853-855)cttfs	p.L285fs	CRKL_uc021wly.1_5'Flank	NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	285	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAAAGGGCTTTTCCCCTTT	0.468													---	2850	---	---	8	---