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
MECOM	2122	broad.mit.edu	37	3	168807883	168807883	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:168807883C>T	uc011bpj.1	-	14	3709	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	MECOM_uc010hwk.1_Silent_p.K928K|MECOM_uc003ffj.3_Silent_p.K979K|MECOM_uc003ffi.3_Silent_p.K914K|MECOM_uc011bpi.1_Silent_p.K906K|MECOM_uc003ffn.3_Silent_p.K914K|MECOM_uc003ffk.2_Silent_p.K905K|MECOM_uc003ffl.2_Silent_p.K1065K|MECOM_uc011bpk.1_Silent_p.K914K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACTGGTTCCTTTCCTGTTT	0.428000														83			49		0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52845395	52845395	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:52845395G>A	uc001sak.3	-	0	516	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	156	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCACCCGCTGGATGGCGGGGT	0.617000														74			11		0	0	0.001523	0	0
AK124973	0	broad.mit.edu	37	3	196050869	196050869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:196050869C>T	uc003fwk.1	+	1	257	c.134C>T	c.(133-135)cCt>cTt	p.P45L	TM4SF19_uc003fwj.3_Splice_Site|TM4SF19_uc010iad.2_Splice_Site_p.R149_splice|TM4SF19_uc003fwl.2_Intron|TM4SF19_uc021xjs.1_Intron|TM4SF19_uc011btv.2_Intron					Homo sapiens cDNA FLJ42983 fis, clone BRTHA2008316.																		CAGATAATTCCTATCCCAAAA	0.547000														23			7		0	0	0.001984	0	0
PARP14	54625	broad.mit.edu	37	3	122419650	122419650	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:122419650C>G	uc003efq.4	+	5	2308	c.2249C>G	c.(2248-2250)gCc>gGc	p.A750G	PARP14_uc021xdc.1_Missense_Mutation_p.A614G|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.A467G|PARP14_uc003efs.1_Missense_Mutation_p.A467G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGCCAGGAGCCAAGCAGTTC	0.428000														18			17		0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57327090	57327090	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:57327090C>G	uc002qnu.2	-	6	3071	c.2720G>C	c.(2719-2721)aGt>aCt	p.S907T	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S878T|PEG3_uc002qnv.2_Missense_Mutation_p.S907T|PEG3_uc002qnw.2_Missense_Mutation_p.S783T|PEG3_uc002qnx.2_Missense_Mutation_p.S781T|PEG3_uc010etr.2_Missense_Mutation_p.S907T	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	907					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCAGGAACACTTTTCTGAGG	0.463000														77			49		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140255408C>T	uc003lic.2	+	0	478	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F117F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562000														122			32		0	0	0.003271	0	0
TSIX	9383	broad.mit.edu	37	X	73040652	73040652	+	RNA	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:73040652C>T	uc004ebn.2	+	0		c.28613C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTCTGCATTTCACATCAGTTC	0.363000														7			11		0	0	0.008291	0	0
AGAP1	116987	broad.mit.edu	37	2	236949435	236949435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:236949435C>T	uc002vvs.3	+	14	2439	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	AGAP1_uc002vvt.3_Missense_Mutation_p.S561L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	614	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCCTGCAGTCGATCCGGAAC	0.622000														46			14		0	0	0.004990	0	0
EPHA2	1969	broad.mit.edu	37	1	16456043	16456043	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:16456043A>C	uc001aya.2	-	15	2866	c.2711T>G	c.(2710-2712)gTg>gGg	p.V904G		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	904	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCGGAAGGGCACCCCCTCCGA	0.652000														28			8		0	0	0.004007	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701318	56701318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56701318C>T	uc010ygh.2	-	3	1366	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	456					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537000														35			19		0	0	0.001523	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898621	160898621	+	Silent	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:160898621A>C	uc002ube.2	-	2	794	c.582T>G	c.(580-582)cgT>cgG	p.R194R	PLA2R1_uc010zcp.2_Silent_p.R194R|PLA2R1_uc002ubf.3_Silent_p.R194R	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	194	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCGACCTTCACGGGTACATT	0.448000														72			25		0	0	0.003330	0	0
C16orf59	80178	broad.mit.edu	37	16	2512222	2512222	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:2512222C>T	uc002cqh.3	+	5	763	c.732C>T	c.(730-732)ctC>ctT	p.L244L	C16orf59_uc002cqg.2_Silent_p.L77L|C16orf59_uc002cqi.3_Silent_p.L77L|C16orf59_uc010uwb.2_Silent_p.L77L	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	244										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCAGTTCCTCCAGAACATGC	0.627000														45			14		0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68153988	68153988	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:68153988C>G	uc001ont.3	+	5	1295	c.1220C>G	c.(1219-1221)gCg>gGg	p.A407G	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	407	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTCTGGGGCGCAGACGCTG	0.647000														17			29		0	0	0.002096	0	0
C9orf96	169436	broad.mit.edu	37	9	136251455	136251455	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:136251455T>C	uc004cdk.3	+	3	335	c.274T>C	c.(274-276)Ttc>Ctc	p.F92L	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	92	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGGAGCTGTTCATCACGTG	0.617000														19			28		0	0	0.005443	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171534	98171534	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:98171534T>C	uc010yvc.1	-	13	1440	c.1160A>G	c.(1159-1161)cAa>cGa	p.Q387R	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA.	387																	TGTCCCACATTGTAGTCCATC	0.363000														28			19		0	0	0.002299	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250842	24250842	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:24250842A>G	uc003xdz.2	+	2	495	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	ADAMDEC1_uc010lub.2_Missense_Mutation_p.Q13R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.Q13R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	92					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTCTCCCTACAAAAAACCAAG	0.338000														32			8		0	0	0.004482	0	0
CD2AP	23607	broad.mit.edu	37	6	47576933	47576933	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:47576933C>T	uc003oyw.3	+	15	2163	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	569					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CATTAGAAATCAAAGCTAAAG	0.363000														28			25		0	0	0.002780	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029190	68029191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:68029190_68029191CC>TT	uc001xjl.1	+	6	984_985	c.842_843CC>TT	c.(841-843)tcc>tTT	p.S281F		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	281						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTTCAGCTTCCTGGGGTGAGG	0.564000														18			6		0	0	0.004672	0	0
GLT25D2	23127	broad.mit.edu	37	1	183933102	183933102	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:183933102G>A	uc001gqr.3	-	5	1257	c.885C>T	c.(883-885)ccC>ccT	p.P295P	GLT25D2_uc010poj.1_Silent_p.P295P|GLT25D2_uc001gqq.3_Silent_p.P32P|GLT25D2_uc001gqs.3_Silent_p.P175P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	295					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	p.P295L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						GGGGCTTCAGGGGGATGGGCA	0.527000														26			35		0	0	0.004289	0	0
ROS1	6098	broad.mit.edu	37	6	117678018	117678018	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:117678018G>A	uc003pxp.1	-	24	4114	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1305					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I1305I(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGTGTGACTGATAATACTGT	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									23			18		0	0	0.002299	0	0
ROR1	4919	broad.mit.edu	37	1	64605887	64605887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:64605887G>A	uc001dbj.2	+	5	1105	c.706G>A	c.(706-708)Gat>Aat	p.D236N	ROR1_uc001dbi.4_Missense_Mutation_p.D236N|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	236	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCGTACTGCGATGAAACTTC	0.478000														44			53		0	0	0.003610	0	0
PLCH2	9651	broad.mit.edu	37	1	2430220	2430220	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:2430220T>C	uc001aji.1	+	17	2658	c.2384T>C	c.(2383-2385)cTc>cCc	p.L795P	PLCH2_uc010nyz.2_Missense_Mutation_p.L584P|PLCH2_uc009vle.1_Missense_Mutation_p.L548P|PLCH2_uc001ajj.1_Missense_Mutation_p.L584P|PLCH2_uc001ajk.1_Missense_Mutation_p.L584P|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	796	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ATCATTGGGCTCCCTGTGGAC	0.662000														14			5		0	0	0.001984	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204364	125204364	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:125204364C>T	uc010flu.3	+	5	1132	c.768C>T	c.(766-768)ccC>ccT	p.P256P	CNTNAP5_uc002tno.3_Silent_p.P256P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	256	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGCTTGCCCTCTGCCACCC	0.597000														76			45		0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149511644	149511644	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:149511644G>A	uc003lro.3	-	7	1610	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	PDGFRB_uc010jhd.3_Silent_p.L220L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	381	Ig-like C2-type 4.				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)	ACCAGTGTCAGCTCTGACACA	0.567000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									42			17		0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977927	120977927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:120977927C>T	uc003eec.4	+	17	2010	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.Q624*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	624					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCAGGATATCAAGCAGAACT	0.373000														18			30		0	0	0.001786	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555768	50555768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:50555768C>T	uc003bjj.3	+	8	1525	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	MOV10L1_uc003bjk.4_Missense_Mutation_p.T481I|MOV10L1_uc011arp.2_Missense_Mutation_p.T461I|MOV10L1_uc011arq.1_Missense_Mutation_p.T242I|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	481					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTGTTGTGACCGCACAGAAA	0.473000														32			6		0	0	0.001984	0	0
DNM3	26052	broad.mit.edu	37	1	172017777	172017777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:172017777G>A	uc001gie.3	+	9	1398	c.1222G>A	c.(1222-1224)Gca>Aca	p.A408T	DNM3_uc001gid.4_Missense_Mutation_p.A408T|DNM3_uc009wwb.2_Missense_Mutation_p.A408T|DNM3_uc001gif.3_Missense_Mutation_p.A408T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	408					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCAGACATGGCATTTGAAGC	0.353000														49			9		0	0	0.006214	0	0
SGCZ	137868	broad.mit.edu	37	8	14095160	14095160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:14095160C>T	uc003wwq.3	-	3	1025	c.365G>A	c.(364-366)aGg>aAg	p.R122K	SGCZ_uc010lss.3_Missense_Mutation_p.R75K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	109					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGTGACATTCCTGTCAGACTG	0.383000														156			70		0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29557909	29557909	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:29557909C>T	uc002hgg.3	+	23	3546	c.3163C>T	c.(3163-3165)Caa>Taa	p.Q1055*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1055*|NF1_uc010csn.2_Nonsense_Mutation_p.Q915*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q88*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1055					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACATCAAACCAAGCAGCAGA	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				8			3		0	0	0.004672	0	0
RBP3	5949	broad.mit.edu	37	10	48389645	48389645	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:48389645C>T	uc001jez.3	-	0	1347	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	411	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCTGGGGCCACCCCTGGTG	0.652000														44			7		0	0	0.001984	0	0
NHLH1	4807	broad.mit.edu	37	1	160340656	160340656	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:160340656C>T	uc021pbs.1	+	0	135	c.135C>T	c.(133-135)gcC>gcT	p.A45A	NHLH1_uc001fwa.2_Silent_p.A45A	NM_005598	NP_005589	Q02575	HEN1_HUMAN	Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA.	45					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCAGGCCCGAGGCCCAG	0.751000														20			7		0	0	0.003080	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560437	44560437	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:44560437C>T	uc002lcr.1	-	0	1552	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	400					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478000														73			16		0	0	0.004007	0	0
SPATA16	83893	broad.mit.edu	37	3	172835539	172835539	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:172835539C>T	uc003fin.4	-	2	167	c.-17_splice	c.e2-1			NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.						cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCCCAAAACTCCTGCAGGGGG	0.373000														63			12		0	0	0.000978	0	0
COMP	1311	broad.mit.edu	37	19	18897365	18897365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18897365G>A	uc002nke.3	-	10	1267	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	COMP_uc002nkd.3_Missense_Mutation_p.P378S|COMP_uc010xqj.2_Missense_Mutation_p.P358S	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	411					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCTTCTGGGGACAGTTGTCA	0.597000														44			23		0	0	0.003954	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76572111C>T	uc002fex.1	+	17	3242	c.3103C>T	c.(3103-3105)Cat>Tat	p.H1035Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.H1031Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.H896Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.H959Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368000														46			12		0	0	0.000978	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532979	22532979	+	Silent	SNP	G	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:22532979G>C	uc010kum.2	-	2	761	c.561C>G	c.(559-561)tcC>tcG	p.S187S	STEAP1B_uc003svh.3_Silent_p.S168S	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	168						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.R186*(1)		endometrium(1)|kidney(1)|lung(2)	4						TGTATCTGTAGGATCGCCTCA	0.368000														29			9		0	0	0.006214	0	0
OBSL1	23363	broad.mit.edu	37	2	220432111	220432111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:220432111G>A	uc010fwk.3	-	3	2035	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	OBSL1_uc010fwl.2_Missense_Mutation_p.A574V|OBSL1_uc002vmi.3_Missense_Mutation_p.A574V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	574	Fibronectin type-III.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACCTCCACGGCTCCGGCTTT	0.637000														13			8		0	0	0.004482	0	0
KRT84	3890	broad.mit.edu	37	12	52779191	52779191	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:52779191G>A	uc001sah.1	-	0	227	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	60	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTGAGTACGATCCAAAGGT	0.582000														55			11		0	0	0.000978	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622995	46622995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:46622995C>T	uc009zkj.1	-	4	940	c.255G>A	c.(253-255)atG>atA	p.M85I	SLC38A1_uc001rpb.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpc.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpd.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpe.3_Missense_Mutation_p.M85I|SLC38A1_uc010slh.2_Missense_Mutation_p.M58I|SLC38A1_uc001rpa.3_Missense_Mutation_p.M85I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	85					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCCCACTGCCCATAATGGCGT	0.423000														22			10		0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	170103467	170103467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:170103467G>A	uc002ues.3	-	20	3151	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S	LRP2_uc010zdf.1_Missense_Mutation_p.P843S	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	980	EGF-like 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACCGTTAGGATGCGTGGGT	0.512000														49			15		0	0	0.004007	0	0
UNC13C	440279	broad.mit.edu	37	15	54307569	54307569	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:54307569G>A	uc021smr.1	+	0	2469	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	UNC13C_uc021sms.1_Silent_p.E823E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	823					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGGGTATGAGGACAGTGGCT	0.448000														44			4		0	0	0.000602	0	0
GALP	85569	broad.mit.edu	37	19	56691971	56691971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56691971C>T	uc002qmo.1	+	2	186	c.104C>T	c.(103-105)aCc>aTc	p.T35I	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	35					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		GGAGGCTGGACCCTCAATAGT	0.607000														53			27		0	0	0.008361	0	0
CT62	196993	broad.mit.edu	37	15	71403594	71403594	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:71403594C>G	uc002ata.2	-	3	820	c.307G>C	c.(307-309)Ggg>Cgg	p.G103R		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	103										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGACTCCCTGACACTTCA	0.488000														40			11		0	0	0.001368	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138929	138929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrGL000213.1:138929C>T	uc011mfl.1	-	0	407	c.359G>A	c.(358-360)tGg>tAg	p.W120*		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	120						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTAGTCTCCCCAAGCGCCCAC	0.587000														15			15		0	0	0.002450	0	0
FAM83B	222584	broad.mit.edu	37	6	54806762	54806762	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:54806762G>A	uc003pck.3	+	4	3109	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	998								p.R997Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTTTCGAGGATTTATGCAA	0.348000														9			8		0	0	0.003080	0	0
ARL8A	127829	broad.mit.edu	37	1	202104325	202104325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:202104325C>T	uc001gxk.1	-	5	630	c.464G>A	c.(463-465)cGa>cAa	p.R155Q		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA.	155					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GCAGATCTCTCGGTCCTGGAT	0.567000											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			6		0	0	0.001984	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754118	154754118	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:154754118G>A	uc022aqg.1	-	9	2083	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	PAXIP1_uc022aqf.1_Silent_p.V680V|PAXIP1_uc022aqh.1_Silent_p.V646V|PAXIP1_uc022aqi.1_Silent_p.V644V	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	680	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCTTCTTTAAGACTGTGTTTA	0.438000														53			24		0	0	0.003330	0	0
VPS72	6944	broad.mit.edu	37	1	151156850	151156850	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:151156850G>A	uc001exe.1	-	3	548	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	VPS72_uc001exf.1_Nonsense_Mutation_p.Q169*	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	169					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTCCTCCTGGGTTAGTGGC	0.557000														171			39		0	0	0.007835	0	0
OR2T12	127064	broad.mit.edu	37	1	248458364	248458364	+	Missense_Mutation	SNP	C	T	T	rs146983185		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:248458364C>T	uc010pzj.2	-	0	517	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D173N(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGAAGTGATCGATCTCGTGT	0.562000														63			22		0	0	0.001882	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869541	36869541	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:36869541G>A	uc002xhy.1	-	2	1264	c.992C>T	c.(991-993)tCc>tTc	p.S331F	KIAA1755_uc002xhz.1_Missense_Mutation_p.S331F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	331										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTTCCCAAGGAAGGTCCTTC	0.488000														270			52		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9086812	9086812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9086812C>T	uc002mkp.3	-	0	5207	c.5003G>A	c.(5002-5004)aGa>aAa	p.R1668K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1668	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAACTTCTTCTTTCCAGTGC	0.512000														83			22		0	0	0.002780	0	0
GGA1	26088	broad.mit.edu	37	22	38010228	38010228	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:38010228C>T	uc003atc.3	+	1	462	c.75C>T	c.(73-75)ctC>ctT	p.L25L	GGA1_uc003atb.3_Silent_p.L25L|GGA1_uc003ate.3_Silent_p.L25L|GGA1_uc003atd.3_Silent_p.L25L|GGA1_uc003atf.3_5'UTR	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	25	VHS.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACAAGGAGCTCGACTGGGCCA	0.602000														64			28		0	0	0.002096	0	0
GSTCD	79807	broad.mit.edu	37	4	106766676	106766676	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:106766676C>T	uc003hxz.4	+	11	1916	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	GSTCD_uc003hxy.4_Missense_Mutation_p.S528F|GSTCD_uc011cfb.2_Missense_Mutation_p.S238F	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	615						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAAGTGATATCCATGGAGCCA	0.433000														31			15		0	0	0.003163	0	0
TCF12	6938	broad.mit.edu	37	15	57535737	57535737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:57535737C>T	uc002aec.3	+	12	1387	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	TCF12_uc010ugm.1_Missense_Mutation_p.S420L|TCF12_uc010ugn.1_Missense_Mutation_p.S364L|TCF12_uc002aea.3_Missense_Mutation_p.S368L|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.S368L|TCF12_uc002aed.3_Missense_Mutation_p.S368L|TCF12_uc010ugo.2_Missense_Mutation_p.S132L|TCF12_uc002aee.3_Missense_Mutation_p.S198L|TCF12_uc010bft.3_Missense_Mutation_p.S198L	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	368					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGATCACCTTCACCTCTCACA	0.348000			T	TEC	extraskeletal myxoid chondrosarcoma									53			19		0	0	0.001523	0	0
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7578196A>C	uc002gim.2	-	5	847	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_uc002gig.1_Missense_Mutation_p.V218G|TP53_uc002gih.3_Missense_Mutation_p.V218G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V86G|TP53_uc010cnf.1_Missense_Mutation_p.V86G|TP53_uc002gii.1_Missense_Mutation_p.V86G|TP53_uc010cni.1_Missense_Mutation_p.V218G|TP53_uc010cnh.1_Missense_Mutation_p.V218G|TP53_uc002gij.2_Missense_Mutation_p.V218G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V125G|TP53_uc002gio.2_Missense_Mutation_p.V86G|TP53_uc010vug.2_Missense_Mutation_p.V179G|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V218E(16)|p.V218G(11)|p.?(11)|p.V218del(10)|p.0?(8)|p.V218M(7)|p.V218A(6)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.V218_E221delVPYE(2)|p.V218fs*26(2)|p.S215_V218>R(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.V217fs*33(1)|p.S215fs*27(1)|p.V217M(1)|p.V218_P219insX(1)|p.V218L(1)|p.V217fs*5(1)|p.S215_V218>RR(1)|p.V217V(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217del(1)|p.V218V(1)|p.T211fs*28(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATAGGGCACCACCACACT	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				10			10		0	0	0.001368	0	0
HNF4G	3174	broad.mit.edu	37	8	76465345	76465345	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:76465345C>T	uc003yaq.3	+	5	687	c.417C>T	c.(415-417)gtC>gtT	p.V139V	HNF4G_uc003yar.3_Silent_p.V176V	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	139					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTGGTGATGTCTGTGAATCTA	0.363000														30			40		0	0	0.005524	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916194	9916194	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:9916194G>A	uc010uym.2	-	10	2405	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GRIN2A_uc002czo.4_Missense_Mutation_p.P699S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P542S|GRIN2A_uc002czr.4_Missense_Mutation_p.P699S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	699					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCATGTAGGGATAGTTATTC	0.458000														58			19		0	0	0.007413	0	0
ODZ2	57451	broad.mit.edu	37	5	167642052	167642052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:167642052C>T	uc010jjd.3	+	20	3826	c.3826C>T	c.(3826-3828)Cca>Tca	p.P1276S	ODZ2_uc003lzr.4_Missense_Mutation_p.P1046S|ODZ2_uc003lzt.4_Missense_Mutation_p.P649S|ODZ2_uc010jje.3_Missense_Mutation_p.P540S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGCAACAACCCAGCACACAA	0.517000														22			4		0	0	0.000248	0	0
MYO3A	53904	broad.mit.edu	37	10	26377306	26377306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:26377306G>A	uc001isn.2	+	14	1894	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO3A_uc009xko.1_Missense_Mutation_p.E512K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E512K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	512	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.L511L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATCTCCTGGAAAAATCCCG	0.343000														25			10		0	0	0.001368	0	0
PACS1	55690	broad.mit.edu	37	11	66009114	66009114	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:66009114G>C	uc001oha.2	+	21	2780	c.2646G>C	c.(2644-2646)aaG>aaC	p.K882N	PACS1_uc010rou.2_Missense_Mutation_p.K418N	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	882				K -> L (in Ref. 1; AAQ67682).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCAAAGAAAAGAACAAGAAAG	0.572000														80			4		0	0	0.000248	0	0
PLA1A	51365	broad.mit.edu	37	3	119334882	119334882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:119334882G>A	uc003ecu.3	+	5	754	c.688G>A	c.(688-690)Gga>Aga	p.G230R	PLA1A_uc003ecv.3_Missense_Mutation_p.G214R|PLA1A_uc011bjc.2_Missense_Mutation_p.G57R|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	230					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTCCCGTTGGACATGTGGA	0.517000														26			13		0	0	0.003163	0	0
OR51B2	79345	broad.mit.edu	37	11	5345263	5345263	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:5345263C>T	uc001mao.1	-	0	320	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTAATCTCCCTGTGATTC	0.493000														21			44		0	0	0.008740	0	0
APOB	338	broad.mit.edu	37	2	21232161	21232161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:21232161C>T	uc002red.3	-	25	7707	c.7579G>A	c.(7579-7581)Gac>Aac	p.D2527N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2527					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)	TGCTGAATGTCCATTTGATAC	0.448000														648			159		0	0	0.003610	0	0
C10orf10	11067	broad.mit.edu	37	10	45473421	45473421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:45473421C>T	uc001jbr.4	-	1	348	c.58G>A	c.(58-60)Gag>Aag	p.E20K	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.E20K	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	20						mitochondrion				lung(1)	1						AGCATCTCCTCCGTGGTCTCC	0.607000														80			22		0	0	0.002780	0	0
PTPRC	5788	broad.mit.edu	37	1	198711073	198711073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:198711073G>A	uc001gur.1	+	23	2653	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	PTPRC_uc001gut.1_Missense_Mutation_p.D664N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	825	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTGCCTGAGGATCCTCACTT	0.453000														23			13		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82584073	82584073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82584073C>T	uc003uhx.2	-	4	6485	c.6196G>A	c.(6196-6198)Gaa>Aaa	p.E2066K	PCLO_uc003uhv.2_Missense_Mutation_p.E2066K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1997					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAGTTCTTCATAGGCAGCA	0.453000														69			28		0	0	0.002096	0	0
SORBS1	10580	broad.mit.edu	37	10	97096734	97096734	+	Silent	SNP	G	C	C	rs117778203	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:97096734G>C	uc001kkp.3	-	27	3228	c.3183C>G	c.(3181-3183)acC>acG	p.T1061T	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.T1015T|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1061					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTAGGGAGTAGGTTTTGTGTG	0.567000														54			17		0	0	0.008871	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926991	43926991	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:43926991C>T	uc010yny.2	+	7	977	c.894C>T	c.(892-894)tcC>tcT	p.S298S	PLEKHH2_uc002rte.3_Silent_p.S298S|PLEKHH2_uc002rtf.3_Silent_p.S297S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	298						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGGAAGATCCAAGTCCAGAT	0.517000														307			146		0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866026	30866026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:30866026G>A	uc003ahy.3	-	3	303	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.L13F|SEC14L3_uc003aib.3_Missense_Mutation_p.L13F	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	72						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGCCAATCAAGGATATGGTCA	0.547000														166			66		0	0	0.003610	0	0
SSH1	54434	broad.mit.edu	37	12	109182215	109182215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:109182215G>A	uc001tnm.3	-	14	2786	c.2699C>T	c.(2698-2700)cCt>cTt	p.P900L	SSH1_uc001tnl.3_Missense_Mutation_p.P588L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	900	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTAGAAGAAAGGAGGGGGGCT	0.587000														54			12		0	0	0.001368	0	0
CACNA1E	777	broad.mit.edu	37	1	181727964	181727964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:181727964C>T	uc009wxt.3	+	31	4760	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F	CACNA1E_uc001gow.3_Missense_Mutation_p.S1522F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1503F|CACNA1E_uc001gox.1_Missense_Mutation_p.S748F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1522					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGTGTTTTCCCTGGAATGT	0.478000														47			43		0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23913792	23913792	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:23913792A>G	uc001uon.2	-	9	4812	c.4223T>C	c.(4222-4224)cTt>cCt	p.L1408P	SACS_uc001uoo.2_Missense_Mutation_p.L1261P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1408					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAGTCATTAAGGTCATCAAC	0.378000														45			17		0	0	0.004990	0	0
FCGBP	8857	broad.mit.edu	37	19	40408528	40408528	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:40408528C>T	uc002omp.4	-	7	4319	c.4311G>A	c.(4309-4311)ggG>ggA	p.G1437G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1437	VWFD 3.					extracellular region	protein binding	p.P1436L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCCTCGCTCCCCGGCGGGC	0.647000														53			25		0	0	0.005443	0	0
HECW1	23072	broad.mit.edu	37	7	43484697	43484697	+	Silent	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:43484697T>C	uc003tid.1	+	10	2531	c.1926T>C	c.(1924-1926)aaT>aaC	p.N642N	HECW1_uc011kbi.1_Silent_p.N642N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	642					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCTGGCCAATGGCGCGGCCC	0.711000														18			11		0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	33954696	33954696	+	Silent	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:33954696G>T	uc001zhi.3	+	34	5035	c.4965G>T	c.(4963-4965)gtG>gtT	p.V1655V	RYR3_uc010bar.3_Silent_p.V1655V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1655	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCCTGGGGTGGGCCTGAGAA	0.557000														42			11		0.000978159	0.00109821	0.000978	1	0
BC071797	0	broad.mit.edu	37	21	9769012	9769012	+	RNA	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:9769012C>T	uc011abu.2	+	9		c.987C>T								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAAACGCTGCCCTTGAAAAG	0.338000														34			9		0	0	0.008291	0	0
SLIT3	6586	broad.mit.edu	37	5	168098445	168098445	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:168098445C>T	uc010jjg.3	-	33	4326	c.3906G>A	c.(3904-3906)acG>acA	p.T1302T	SLIT3_uc003mab.3_Silent_p.T1295T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1295	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCCGGTCCGTGCCCTGGC	0.667000														19			7		0	0	0.001984	0	0
TEX19	400629	broad.mit.edu	37	17	80320467	80320467	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:80320467G>A	uc002keq.3	+	1	751	c.441G>A	c.(439-441)tgG>tgA	p.W147*	TEX19_uc021ufp.1_Nonsense_Mutation_p.W147*	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	147						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GTCTTCCCTGGAGATTTGAGG	0.597000														27			30		0	0	0.007291	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895515	42895515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:42895515G>A	uc003gwt.3	+	0	233	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	78					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.D78G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAATGACCAGGATAGCTTGCT	0.458000														131			41		0	0	0.002522	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569509	76569509	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76569509C>T	uc002fex.1	+	16	2971	c.2832C>T	c.(2830-2832)acC>acT	p.T944T	CNTNAP4_uc002feu.1_Silent_p.T940T|CNTNAP4_uc002fev.1_Silent_p.T805T|CNTNAP4_uc010chb.1_Silent_p.T868T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	941	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGGATGACCCTGGATTTGG	0.507000														48			14		0	0	0.004990	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457413	6457413	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:6457413T>A	uc001qnw.3	-	11	2077	c.1813A>T	c.(1813-1815)Acc>Tcc	p.T605S	SCNN1A_uc001qnv.3_Missense_Mutation_p.T246S|SCNN1A_uc001qnx.3_Missense_Mutation_p.T546S|SCNN1A_uc010sfb.2_Missense_Mutation_p.T569S	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	546					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GACAGGAGGGTGACCATCTGT	0.592000														39			17		0	0	0.006122	0	0
MAST4	375449	broad.mit.edu	37	5	66416869	66416869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:66416869C>T	uc021xzk.1	+	13	1992	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	565						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313000														14			4		0	0	0.000602	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274653	42274653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:42274653G>A	uc002iga.3	-	2	390	c.299C>T	c.(298-300)cCc>cTc	p.P100L	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.P100L	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	100					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCAGATGGGGAGCAAAGCG	0.597000														99			27		0	0	0.005443	0	0
CNTN5	53942	broad.mit.edu	37	11	99690330	99690330	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:99690330T>G	uc001pga.3	+	3	615	c.111T>G	c.(109-111)atT>atG	p.I37M	CNTN5_uc009ywv.2_Missense_Mutation_p.I37M|CNTN5_uc001pfz.3_Missense_Mutation_p.I37M|CNTN5_uc021qpb.1_Missense_Mutation_p.I37M|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	37					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTTAAGAATTAAGAAGAGTT	0.383000														79			16		0	0	0.004990	0	0
PCNT	5116	broad.mit.edu	37	21	47783511	47783511	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:47783511G>A	uc002zji.4	+	13	2378	c.2271G>A	c.(2269-2271)gaG>gaA	p.E757E	PCNT_uc002zjj.3_Silent_p.E639E	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	757	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTATGAAGGAGGAGCTACAGC	0.413000														47			19		0	0	0.007413	0	0
CHST4	10164	broad.mit.edu	37	16	71571651	71571651	+	Silent	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:71571651G>T	uc021tkt.1	+	0	1071	c.1071G>T	c.(1069-1071)ctG>ctT	p.L357L	CHST4_uc002fan.3_Silent_p.L357L|CHST4_uc002fao.3_Silent_p.L357L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	357					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGAATTTGCTGGGCTACCGCC	0.517000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			10		1.58986e-06	1.79948e-06	0.008291	1	0
MYF6	4618	broad.mit.edu	37	12	81101829	81101829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:81101829G>A	uc001szf.2	+	0	422	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATCAACGAGGCCTTCGA	0.582000														42			9		0	0	0.006214	0	0
EDC4	23644	broad.mit.edu	37	16	67913992	67913992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:67913992C>T	uc002eur.3	+	16	2209	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	EDC4_uc010cer.3_Missense_Mutation_p.P276L|EDC4_uc010vkg.1_Missense_Mutation_p.P589L|EDC4_uc002eus.3_Missense_Mutation_p.P387L|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	657	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTTGAGCCCCAAGCTGCAG	0.652000														32			4		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13814899	13814899	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:13814899G>A	uc003jfd.2	-	42	7087	c.7045C>T	c.(7045-7047)Ctg>Ttg	p.L2349L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2349	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2349L(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATTCAGATTTTCAATC	0.393000									Kartagener syndrome					35			11		0	0	0.001368	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218848	134218848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:134218848C>T	uc001lll.4	+	1	873	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P282S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	282										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCTTCCGTCCCCAGCAGGC	0.706000														18			11		0	0	0.002450	0	0
HRH1	3269	broad.mit.edu	37	3	11301853	11301853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:11301853G>A	uc010hdr.3	+	1	1472	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	HRH1_uc010hds.3_Missense_Mutation_p.R377K|HRH1_uc010hdt.3_Missense_Mutation_p.R377K|HRH1_uc003bwb.4_Missense_Mutation_p.R377K|HRH1_uc021wtb.1_Missense_Mutation_p.R377K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	377					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCAAATTGAGGAGTGGGTCT	0.488000														22			26		0	0	0.003954	0	0
ITGA9	3680	broad.mit.edu	37	3	37574877	37574877	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:37574877T>G	uc003chd.3	+	13	1499	c.1446T>G	c.(1444-1446)tgT>tgG	p.C482W	ITGA9_uc003chc.3_Missense_Mutation_p.C482W	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	482					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CGCCTCAGTGTCACGACGGAC	0.552000														30			17		0	0	0.006122	0	0
RAB6B	51560	broad.mit.edu	37	3	133558452	133558452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:133558452G>A	uc003epy.3	-	4	680	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RAB6B_uc011blu.1_Missense_Mutation_p.S87F	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	100					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CTGTTGGAAGGAGTTGAGATC	0.557000														46			25		0	0	0.004656	0	0
OR8K1	390157	broad.mit.edu	37	11	56113718	56113718	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56113718C>T	uc010rjg.2	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(2)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTACTTTTTCCTTAGACATT	0.408000										HNSCC(65;0.19)				44			62		0	0	0.003610	0	0
ESPL1	9700	broad.mit.edu	37	12	53670519	53670519	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53670519A>G	uc001sck.2	+	7	1907	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	ESPL1_uc001scj.2_Missense_Mutation_p.I281V|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	606					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACGCTTCAACATCATCTGTGA	0.662000														54			7		0	0	0.001984	0	0
FRG1B	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	A	A	rs76435412	by1000genomes	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:29625895G>A	uc010ztl.1	+	1	81	c.49G>A	c.(49-51)Gga>Aga	p.G17R	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.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343000														58			7		0	0	0.008291	0	0
GYS1	2997	broad.mit.edu	37	19	49477978	49477978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:49477978G>A	uc002plp.3	-	10	1562	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	GYS1_uc010emm.3_Missense_Mutation_p.P377S|GYS1_uc010xzz.2_Missense_Mutation_p.P361S|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	441					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACACAGGGGGGAAAGACTGC	0.592000														57			11		0	0	0.003163	0	0
DST	667	broad.mit.edu	37	6	56327921	56327921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:56327921G>A	uc003pcy.4	-	81	15160	c.15052C>T	c.(15052-15054)Cca>Tca	p.P5018S	DST_uc003pcv.4_Missense_Mutation_p.P140S|DST_uc003pcw.4_Missense_Mutation_p.P101S|DST_uc003pcx.4_Intron	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7442					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCAACCATGGTTTACCATAA	0.418000														34			25		0	0	0.006320	0	0
FAM47C	442444	broad.mit.edu	37	X	37028775	37028775	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:37028775G>A	uc004ddl.2	+	0	2344	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	764								p.R763C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCGGAGCCTCCTG	0.622000														15			21		0	0	0.001523	0	0
NLRP8	126205	broad.mit.edu	37	19	56466504	56466504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56466504G>A	uc002qmh.3	+	2	1151	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	NLRP8_uc010etg.3_Missense_Mutation_p.M360I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	360	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTAATACGATGGAAAAAATCA	0.458000														44			36		0	0	0.003755	0	0
ZNF12	7559	broad.mit.edu	37	7	6731272	6731272	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:6731272T>C	uc003sqt.1	-	4	1855	c.1301A>G	c.(1300-1302)gAg>gGg	p.E434G	ZNF12_uc011jxa.1_Missense_Mutation_p.E272G|ZNF12_uc003sqs.1_Missense_Mutation_p.E396G	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	434					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATACGGTTTCTCTCCTGTGTG	0.428000														26			20		0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					54			30		0	0	0.008361	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775840	19775840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:19775840C>T	uc002ykw.3	-	0	131	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	34					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAATTAATCCAGCACAGAGC	0.453000														55			18		0	0	0.007413	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285354	44285354	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:44285354C>T	uc010qfe.1	-	0	512	c.482G>A	c.(481-483)aGg>aAg	p.R161K						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TCCACTCTGCCTGTCTTCCAT	0.328000														17			7		0	0	0.003080	0	0
SYNPO	11346	broad.mit.edu	37	5	150027788	150027788	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:150027788C>T	uc003lsn.3	+	2	1057	c.683C>T	c.(682-684)cCa>cTa	p.P228L	SYNPO_uc021yfu.1_Missense_Mutation_p.P228L|SYNPO_uc003lso.4_5'UTR|SYNPO_uc003lsp.3_5'UTR|SYNPO_uc021yfv.1_5'Flank	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	228					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCCCTCCACGGCACCCC	0.677000														16			5		0	0	0.000602	0	0
GRM2	2912	broad.mit.edu	37	3	51746528	51746528	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:51746528A>G	uc010hlv.3	+	2	729	c.490A>G	c.(490-492)Agc>Ggc	p.S164G	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	164					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCACAGATTAGCTACGCCTC	0.537000														72			44		0	0	0.003214	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299856	15299856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:15299856C>T	uc002nan.3	-	7	1398	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	NOTCH3_uc002nao.1_Missense_Mutation_p.R441Q	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	441	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCCTGGTTTCGGCAGGGCCC	0.657000														19			5		0	0	0.000602	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891364	62891364	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:62891364G>T	uc002yil.4	+	1	246	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	PCMTD2_uc002yim.4_Missense_Mutation_p.D16Y	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	16						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGAGCTGATAGATAATTTGAA	0.378000														78			14		3.52763e-06	3.98465e-06	0.004990	1	0
ACSL1	2180	broad.mit.edu	37	4	185684408	185684408	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:185684408G>A	uc003iww.2	-	16	1727	c.1433_splice	c.e16-1	p.G478_splice	ACSL1_uc011ckm.1_Splice_Site_p.G307_splice|ACSL1_uc003iwt.1_Splice_Site_p.G478_splice|ACSL1_uc003iwu.1_Splice_Site_p.G478_splice|ACSL1_uc011ckn.1_Splice_Site_p.G444_splice|ACSL1_uc003iws.1_Splice_Site_p.G48_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	478					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCCAACATGGCCTGTATATT	0.428000														25			8		0	0	0.006214	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850804	13850804	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:13850804C>T	uc010gcf.3	-	12	1232	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	SEL1L2_uc002woq.4_Missense_Mutation_p.G245R|SEL1L2_uc010zrl.2_Missense_Mutation_p.G384R|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	384						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTCCTTTTCCATGAAAGTAA	0.333000														53			28		0	0	0.002445	0	0
NBPF1	55672	broad.mit.edu	37	1	16907915	16907915	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:16907915C>T	uc009vos.1	-	15	2267	c.1379_splice	c.e15+1	p.R460_splice	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Splice_Site_p.R189_splice	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	460	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGTGTTACCTGGGGGCAGA	0.438000														441			55		0	0	0.003610	0	0
C10orf113	387638	broad.mit.edu	37	10	21414812	21414812	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:21414812G>A	uc001iqm.3	-	1	459	c.408C>T	c.(406-408)ttC>ttT	p.F136F	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	136										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTATGCCCTGGAATTTAAATC	0.433000														59			19		0	0	0.008871	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285493	44285493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:44285493C>T	uc010qfe.1	-	0	373	c.343G>A	c.(343-345)Gat>Aat	p.D115N						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TTCACAGAATCCTCTCTAGAA	0.408000														25			8		0	0	0.003080	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123118096	123118096	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:123118096C>T	uc003pzg.3	+	2	975	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	SMPDL3A_uc003pzh.3_Missense_Mutation_p.H21Y	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA.	152					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GCTGGGTAATCATGACTATTG	0.368000														28			22		0	0	0.004656	0	0
PSMA1	5682	broad.mit.edu	37	11	14529245	14529245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:14529245G>A	uc001mll.3	-	9	1055	c.710C>T	c.(709-711)cCa>cTa	p.P237L	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P231L	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCCAGGAATGGAGACACATC	0.363000														42			46		0	0	0.003610	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307974	46307974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:46307974C>T	uc002pdm.3	-	2	1360	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E133K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	397	Glu-rich.					intracellular		p.E396*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACGGccttctcctcgtcctcc	0.647000														18			14		0	0	0.001855	0	0
MORC1	27136	broad.mit.edu	37	3	108688522	108688522	+	Silent	SNP	G	A	A	rs138551884		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108688522G>A	uc003dxl.3	-	25	2685	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	MORC1_uc011bhn.2_Silent_p.F845F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	866					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTACCTGGTTGAAACACATTT	0.353000														41			25		0	0	0.008361	0	0
TBCE	6905	broad.mit.edu	37	1	235599136	235599136	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:235599136C>T	uc010pxr.1	+	9	1090	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.L272L|TBCE_uc001hxa.1_Silent_p.L272L|TBCE_uc001hxb.1_Silent_p.L159L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	272					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.S323L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCAGCTGTATCTGATAGCCCA	0.363000														64			38		0	0	0.006999	0	0
PDE1C	5137	broad.mit.edu	37	7	32109987	32109987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:32109987C>T	uc003tcm.2	-	0	480	c.19G>A	c.(19-21)Gag>Aag	p.E7K	PDE1C_uc003tcn.1_Missense_Mutation_p.E7K|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Missense_Mutation_p.E7K|PDE1C_uc003tcs.3_Missense_Mutation_p.E7K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	7					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTCAATCTCCTTGGTTGGC	0.537000														85			38		0	0	0.004289	0	0
ATPBD4	89978	broad.mit.edu	37	15	35830567	35830567	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:35830567T>C	uc001zja.3	-	2	282	c.220A>G	c.(220-222)Ata>Gta	p.I74V	ATPBD4_uc001zjb.2_Missense_Mutation_p.I74V	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	74										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		CTTCCTCTTATGGTTCGGCGA	0.458000														91			28		0	0	0.004656	0	0
POTEF	728378	broad.mit.edu	37	2	130832375	130832375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:130832375C>T	uc010fmh.2	-	16	3070	c.2670G>A	c.(2668-2670)atG>atA	p.M890I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	890	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGGATCTTCATGAGGTAGT	0.592000														114			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179639101C>T	uc021vsy.1	-	29	7115	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_uc021vsz.1_Missense_Mutation_p.G2251E|TTN_uc021vta.1_Missense_Mutation_p.G2251E|TTN_uc021vtb.1_Missense_Mutation_p.G2251E|TTN_uc002unb.2_Missense_Mutation_p.G2297E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2297	Ig-like 12.						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)			ATACCATTTTCCTTCTATATT	0.393000														73			32		0	0	0.001786	0	0
OR1B1	347169	broad.mit.edu	37	9	125391383	125391383	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:125391383G>A	uc011lyz.2	-	0	432	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CTAGTAAGCAGGCACACCGTT	0.542000														14			14		0	0	0.006122	0	0
EGLN1	54583	broad.mit.edu	37	1	231557539	231557539	+	Silent	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:231557539G>T	uc001huv.2	-	0	3252	c.96C>A	c.(94-96)cgC>cgA	p.R32R	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	32					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	AGCGGCTGCAGCGCAGCAGGT	0.692000														8			10		4.68919e-08	5.32906e-08	0.008291	1	0
NLRP4	147945	broad.mit.edu	37	19	56370377	56370377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56370377G>A	uc002qmd.4	+	2	2040	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	NLRP4_uc002qmf.3_Missense_Mutation_p.E465K|NLRP4_uc010etf.3_Missense_Mutation_p.E371K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	540							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGCTTAGGGGAGCGTGGCAA	0.453000														58			11		0	0	0.001368	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574609	101574609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:101574609C>T	uc003dvp.3	+	8	1802	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	NFKBIZ_uc003dvo.3_Missense_Mutation_p.H463Y|NFKBIZ_uc010hpo.3_Missense_Mutation_p.H463Y|NFKBIZ_uc003dvq.3_Missense_Mutation_p.H441Y	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	563	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AGTCATAGCCCACAATGCTGT	0.438000														68			11		0	0	0.001368	0	0
EPPK1	83481	broad.mit.edu	37	8	144945716	144945717	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:144945716_144945717GG>AA	uc003zaa.1	-	0	1718_1719	c.1705_1706CC>TT	c.(1705-1707)cca>TTa	p.P569L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	569						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTCTCCTGGTGTCACGGTG	0.644000														21			4		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182108	140182108	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140182108C>T	uc003lhf.2	+	0	1326	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S442S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	456	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCGTGTCCGTGGAGGTGG	0.652000														84			23		0	0	0.002780	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694361	153694361	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:153694361G>A	uc004flm.3	+	13	2789	c.2616G>A	c.(2614-2616)gtG>gtA	p.V872V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	872	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGAGAGGTGGGCCTGCGGG	0.662000														8			13		0	0	0.001855	0	0
TOP1	7150	broad.mit.edu	37	20	39750645	39750646	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:39750645_39750646GG>AA	uc002xjl.3	+	20	2292	c.2046_splice	c.e20-1	p.K682_splice	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	682					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding	p.?(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TATTCTTCTAGGGTAGTAGAGT	0.465000			T	NUP98	AML*									54			47		0	0	0.004672	0	0
PRR23B	389151	broad.mit.edu	37	3	138739346	138739346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:138739346G>A	uc003esy.1	-	0	423	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	53										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCGTCCACGGCCGGGTCCCC	0.751000														8			4		0	0	0.000602	0	0
PRSS35	167681	broad.mit.edu	37	6	84233463	84233463	+	Silent	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:84233463A>G	uc003pjz.3	+	1	543	c.303A>G	c.(301-303)caA>caG	p.Q101Q	PRSS35_uc010kbm.3_Silent_p.Q101Q|PRSS35_uc021zce.1_Silent_p.Q101Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGAAAGTTCAAGATTTGGTTC	0.458000														30			39		0	0	0.004289	0	0
QSOX2	169714	broad.mit.edu	37	9	139100772	139100772	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:139100772G>A	uc010nbi.2	-	11	1937	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	633					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGACTCTGGAGTTTCCCGT	0.657000														29			29		0	0	0.008361	0	0
MTMR7	9108	broad.mit.edu	37	8	17206493	17206493	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:17206493G>A	uc003wxm.3	-	4	805	c.566C>T	c.(565-567)cCt>cTt	p.P189L	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	189	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AGAAAGGACAGGAAATCGCCG	0.428000														38			16		0	0	0.006122	0	0
TET1	80312	broad.mit.edu	37	10	70446317	70446317	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:70446317C>T	uc001jok.4	+	10	5762	c.5257C>T	c.(5257-5259)Cgt>Tgt	p.R1753C		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1753					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCTGTTCCCCGTTCTGGAAA	0.502000														46			16		0	0	0.008871	0	0
BIN1	274	broad.mit.edu	37	2	127808019	127808019	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:127808019G>A	uc002tns.2	-	17	2036	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L	BIN1_uc010yzf.2_Missense_Mutation_p.P343L|BIN1_uc002tnt.2_Missense_Mutation_p.P367L|BIN1_uc010yzg.2_Missense_Mutation_p.P428L|BIN1_uc002tnu.2_Missense_Mutation_p.P382L|BIN1_uc002tnv.2_Missense_Mutation_p.P508L|BIN1_uc002tnw.2_Missense_Mutation_p.P455L|BIN1_uc002tnx.2_Missense_Mutation_p.P412L|BIN1_uc002tny.2_Missense_Mutation_p.P464L|BIN1_uc002tnz.2_Missense_Mutation_p.P476L|BIN1_uc002toa.2_Missense_Mutation_p.P440L|BIN1_uc002tob.2_Missense_Mutation_p.P397L|BIN1_uc002toc.2_Missense_Mutation_p.P433L	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	551	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTCTGGAAGGGGATCACCAG	0.662000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			62		0	0	0.003610	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220332762	220332762	+	Splice_Site	SNP	A	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:220332762A>T	uc010puk.1	-	29	3390	c.3226_splice	c.e29-1	p.V1076_splice	RAB3GAP2_uc021pjf.1_Splice_Site_p.V1076_splice|RAB3GAP2_uc001hmf.2_Splice_Site|RAB3GAP2_uc001hmg.2_Splice_Site_p.V656_splice	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1076					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGATTTTCCAACCTAAAATAA	0.269000														38			7		0	0	0.001984	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685037	27685037	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:27685037G>A	uc001bny.1	-	19	2898	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L	MAP3K6_uc009vsw.1_Silent_p.L875L|MAP3K6_uc001bnz.1_Silent_p.L406L	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	883	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGTTCGGAGGAGAAAGGCTT	0.637000														42			33		0	0	0.006230	0	0
ODZ3	55714	broad.mit.edu	37	4	183676186	183676186	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:183676186G>T	uc003ivd.1	+	20	4741	c.4666G>T	c.(4666-4668)Gtg>Ttg	p.V1556L	ODZ3_uc003ive.1_Missense_Mutation_p.V969L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1556					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TATTACTGCTGTGACAGACAG	0.408000														32			9		7.48243e-07	8.48617e-07	0.006214	1	0
ELF5	2001	broad.mit.edu	37	11	34502418	34502418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:34502418C>T	uc001mvo.1	-	5	832	c.602G>A	c.(601-603)gGa>gAa	p.G201E	ELF5_uc021qft.1_Missense_Mutation_p.G123E|ELF5_uc001mvp.2_Missense_Mutation_p.G191E|ELF5_uc009ykd.2_Missense_Mutation_p.G96E	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	201					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCGAAAAATTCCTTGTTCCCT	0.443000														40			49		0	0	0.003610	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230725	69230725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:69230725G>A	uc003dnv.2	-	20	2466	c.2176C>T	c.(2176-2178)Ctc>Ttc	p.L726F	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.L378F|FRMD4B_uc011bga.1_Missense_Mutation_p.L570F	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	726						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CCGTCATCGAGGATTTCTGTG	0.522000														76			37		0	0	0.004878	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673285	25673285	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:25673285G>A	uc003grr.3	+	8	1071	c.990G>A	c.(988-990)acG>acA	p.T330T	SLC34A2_uc003grs.3_Silent_p.T329T|SLC34A2_uc010iev.3_Silent_p.T329T	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	330				T -> V (in Ref. 6; BAC11354).	cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T330T(2)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTGTTGGACGGATGGCATCC	0.502000			T	ROS1	NSCLC									128			64		0	0	0.003610	0	0
NBR1	4077	broad.mit.edu	37	17	41345540	41345540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:41345540C>T	uc010whv.2	+	11	1492	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	NBR1_uc010czd.3_Missense_Mutation_p.P470L|NBR1_uc010diz.3_Missense_Mutation_p.P470L|NBR1_uc010whu.2_Missense_Mutation_p.P470L|NBR1_uc010whw.2_Missense_Mutation_p.P449L|NBR1_uc010whx.1_Missense_Mutation_p.P279L	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	470					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CAATTTGGGCCTCGGGTCTGG	0.502000														9			14		0	0	0.003163	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593915	31593915	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:31593915C>T	uc003nvb.4	+	8	1207	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Nonsense_Mutation_p.Q320*|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	320	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGTTGGATCAGGAGAATGA	0.453000														21			17		0	0	0.006122	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854129	12854129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:12854129G>A	uc001auj.2	+	2	456	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	118										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCCTGGAGCCTGGGCC	0.532000														375			12		0	0	0.003610	0	0
YARS2	51067	broad.mit.edu	37	12	32900275	32900275	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:32900275C>T	uc001rli.3	-	4	1376	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	433					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity	p.G433A(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGCTGACTCCGCCTTCTGTT	0.348000														49			21		0	0	0.003954	0	0
JAM2	58494	broad.mit.edu	37	21	27062285	27062285	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:27062285G>A	uc002ylp.1	+	3	786	c.241_splice	c.e3+1	p.G81_splice	JAM2_uc011ace.1_Splice_Site_p.G81_splice|JAM2_uc002ylq.1_Splice_Site|JAM2_uc011acf.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	81	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACTCTTCAAGGTAAGCAGCT	0.443000														75			24		0	0	0.003330	0	0
KIF6	221458	broad.mit.edu	37	6	39512353	39512353	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:39512353C>T	uc003oot.2	-	11	1499	c.1404G>A	c.(1402-1404)ctG>ctA	p.L468L	KIF6_uc010jxa.1_Silent_p.L259L|KIF6_uc011dua.1_Silent_p.L468L|KIF6_uc010jxb.1_Silent_p.L468L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	468					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTCTCTGTTTCAGAATATCTC	0.378000														24			18		0	0	0.007413	0	0
PRRX1	5396	broad.mit.edu	37	1	170695431	170695431	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:170695431C>T	uc001ghf.3	+	2	535	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PRRX1_uc001ghe.3_Missense_Mutation_p.S163F	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAACGCTTCCCTCCTCAAA	0.547000														23			19		0	0	0.008871	0	0
KCNT2	343450	broad.mit.edu	37	1	196577427	196577427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:196577427C>T	uc001gtd.1	-	0	73	c.13G>A	c.(13-15)Gag>Aag	p.E5K	KCNT2_uc001gte.1_Missense_Mutation_p.E5K|KCNT2_uc001gtf.1_Missense_Mutation_p.E5K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E5K|KCNT2_uc009wyv.1_Missense_Mutation_p.E5K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	5						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCGCTCTCCAAATCAACC	0.512000														59			17		0	0	0.006122	0	0
RAD17	5884	broad.mit.edu	37	5	68695977	68695977	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:68695977C>T	uc003jwo.3	+	13	1769	c.1707C>T	c.(1705-1707)acC>acT	p.T569T	RAD17_uc003jwg.3_Silent_p.T558T|RAD17_uc003jwi.3_Silent_p.T558T|RAD17_uc003jwh.3_Silent_p.T558T|RAD17_uc003jwj.3_Silent_p.T558T|RAD17_uc003jwk.3_Silent_p.T558T|RAD17_uc003jwl.3_Silent_p.T558T|RAD17_uc003jwm.3_Silent_p.T393T|RAD17_uc003jwn.3_Silent_p.T472T	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	569	Interaction with MCM7.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTCTACTAACCATTCCAATGA	0.353000								Other conserved DNA damage response genes						25			7		0	0	0.004482	0	0
ZNF596	169270	broad.mit.edu	37	8	195641	195641	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:195641A>G	uc003wot.3	+	5	1082	c.794A>G	c.(793-795)aAc>aGc	p.N265S	ZNF596_uc003wou.3_Missense_Mutation_p.N164S|ZNF596_uc003wov.3_Missense_Mutation_p.N265S|ZNF596_uc003wow.3_Missense_Mutation_p.N265S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAAAGTTCTAACCTTAGACGA	0.408000														19			8		0	0	0.004482	0	0
SEC16A	9919	broad.mit.edu	37	9	139370482	139370482	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:139370482C>T	uc004chx.3	-	2	1895	c.1586G>A	c.(1585-1587)aGc>aAc	p.S529N	SEC16A_uc004chv.4_Missense_Mutation_p.S156N|SEC16A_uc004chw.3_Missense_Mutation_p.S529N|SEC16A_uc010nbn.3_Missense_Mutation_p.S529N|SEC16A_uc010nbo.1_Missense_Mutation_p.S529N	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	351					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTTCCGTGGCTTCTGCTGCT	0.572000														21			21		0	0	0.004656	0	0
AX747417	0	broad.mit.edu	37	3	95374249	95374249	+	RNA	SNP	A	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:95374249A>T	uc003dro.1	-	4		c.1613T>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GCATTCCAACAATTTTTGACC	0.468000														16			17		0	0	0.004990	0	0
XIST	7503	broad.mit.edu	37	X	73066030	73066030	+	RNA	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:73066030C>T	uc004ebm.1	-	0		c.6559G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAAAAAGGGCCTTGGTGATCA	0.493000														27			27		0	0	0.008361	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50403276	50403276	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:50403276G>A	uc003daq.3	-	33	2939	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	CACNA2D2_uc003dap.3_Silent_p.F960F	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	967					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCAGGTTAAGGAAATCTGCAA	0.622000														35			8		0	0	0.008291	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127325	45127325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:45127325C>T	uc010wkj.1	+	1	877	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1311						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCACAAAACTCGCTCCCGCAT	0.408000														394			82		0	0	0.003610	0	0
GRIN2C	2905	broad.mit.edu	37	17	72850838	72850838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:72850838G>A	uc002jlt.1	-	1	550	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P132S|GRIN2C_uc002jlv.1_Missense_Mutation_p.P132S	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	132					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGCACCTTGGGGGTGAGGACC	0.622000														27			5		0	0	0.001168	0	0
SALL1	6299	broad.mit.edu	37	16	51173898	51173898	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:51173898C>T	uc021tif.1	-	1	2266	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	SALL1_uc021tid.1_Silent_p.T648T|SALL1_uc021tie.1_Silent_p.T745T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	745					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T745T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATTCCCTTTCGTGGTGAAAG	0.547000														28			13		0	0	0.001368	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294734	110294734	+	Silent	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:110294734G>T	uc001dyr.2	-	14	1542	c.1317C>A	c.(1315-1317)ccC>ccA	p.P439P	EPS8L3_uc001dys.2_Intron|EPS8L3_uc001dyq.2_Silent_p.P440P|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	439						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTGGAGTTGGGGTCCCCAG	0.562000														225			55		3.36121e-32	3.89119e-32	0.003610	1	0
PREX1	57580	broad.mit.edu	37	20	47274699	47274699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:47274699G>A	uc002xtw.1	-	16	1972	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	650	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCTGGACGGACTTCACCAC	0.647000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			178		0	0	0.003610	0	0
BGN	633	broad.mit.edu	37	X	152773823	152773823	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:152773823C>T	uc004fhr.2	+	7	1263	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	343						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCCGTGCCCTACTGGGA	0.592000														37			38		0	0	0.004878	0	0
MIA3	375056	broad.mit.edu	37	1	222832074	222832074	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:222832074C>G	uc001hnl.3	+	18	4627	c.4618C>G	c.(4618-4620)Caa>Gaa	p.Q1540E	MIA3_uc001hnm.3_Missense_Mutation_p.Q418E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1540					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)		GAAACTGAGTCAAGAAGAGTA	0.408000														336			9		0	0	0.006214	0	0
PDZD8	118987	broad.mit.edu	37	10	119042949	119042949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:119042949C>T	uc001lde.1	-	4	3494	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1099					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTATATCTTCAATGCCTGCT	0.358000														28			11		0	0	0.001368	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342025	69342025	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:69342025C>T	uc003hdz.4	+	6	640	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	192	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GTCTCAGGATCGTTGGTGGGA	0.512000														121			35		0	0	0.004878	0	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:53103940C>T	uc003tpz.3	+	0	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701000														59			30		0	0	0.002445	0	0
MCM8	84515	broad.mit.edu	37	20	5963742	5963742	+	Missense_Mutation	SNP	C	T	T	rs61752704		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:5963742C>T	uc002wmk.3	+	13	2161	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	MCM8_uc002wmi.3_Missense_Mutation_p.S555F|MCM8_uc002wmj.3_Missense_Mutation_p.S539F|MCM8_uc002wml.3_Missense_Mutation_p.S555F|MCM8_uc010gbp.3_Missense_Mutation_p.S508F|MCM8_uc002wmm.3_Missense_Mutation_p.S93F	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	555	MCM.				DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GCAAGAACTTCCATTATTGCT	0.388000														27			23		0	0	0.002780	0	0
CASP1	834	broad.mit.edu	37	11	104971360	104971360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:104971360C>T	uc001pir.1	-	1	171	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron	NM_001007232	NP_001007233	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA.	52	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CGGGCCTTATCCATAACTGTA	0.443000														41			38		0	0	0.005524	0	0
SYT10	341359	broad.mit.edu	37	12	33579237	33579237	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:33579237T>G	uc001rll.1	-	1	642	c.345A>C	c.(343-345)gaA>gaC	p.E115D	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	115						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCCTTAATTTCTTTTTTCT	0.418000														84			20		0	0	0.001882	0	0
SPAG16	79582	broad.mit.edu	37	2	214354720	214354720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:214354720C>T	uc002veq.3	+	9	1068	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SPAG16_uc010fuz.2_Missense_Mutation_p.P177S|SPAG16_uc002ver.3_Missense_Mutation_p.P272S|SPAG16_uc010zjk.2_Missense_Mutation_p.P232S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCAACCAAATCCAAACCTGAA	0.353000														79			86		0	0	0.003610	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845830	106845830	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:106845830C>T	uc022cce.1	+	0	2196	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1554						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTACTCTATCCCCATGAAGAT	0.577000														23			26		0	0	0.006320	0	0
CTSE	1510	broad.mit.edu	37	1	206318330	206318330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:206318330C>T	uc001hdu.3	+	1	206	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	CTSE_uc001hdv.3_Missense_Mutation_p.P30S|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	30					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGGAGGCATCCGTCCCTCAA	0.557000														44			36		0	0	0.004289	0	0
FABP7	2173	broad.mit.edu	37	6	123101437	123101437	+	Splice_Site	SNP	C	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:123101437C>A	uc003pzf.3	+	2	368	c.74_splice	c.e2-1	p.G25_splice	FABP7_uc003pzd.3_Splice_Site_p.G25_splice|FABP7_uc003pze.1_Splice_Site_p.G25_splice	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	25					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)|gamma-Homolinolenic acid(DB00154)	CTATTTTAGGCGTGGGCTTTG	0.448000														27			21		2.21704e-12	2.54548e-12	0.002780	1	0
ERBB4	2066	broad.mit.edu	37	2	212295699	212295699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:212295699C>T	uc002veg.1	-	20	2712	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	ERBB4_uc002veh.1_Missense_Mutation_p.E872K|ERBB4_uc010zji.1_Missense_Mutation_p.E862K|ERBB4_uc010zjj.1_Missense_Mutation_p.E862K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	872	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E872K(4)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TACTCTTTTTCATCTCCTTCC	0.378000										TSP Lung(8;0.080)				60			30		0	0	0.002445	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726979	145726979	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:145726979G>T	uc003zdd.3	+	10	2193	c.1280G>T	c.(1279-1281)cGa>cTa	p.R427L	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.R427L|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	427						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TACTCCAAGCGACTAGACCGG	0.647000														4			9		9.70103e-10	1.10926e-09	0.008291	1	0
SYNE1	23345	broad.mit.edu	37	6	152652612	152652612	+	Missense_Mutation	SNP	G	A	A	rs139490297		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:152652612G>A	uc021zhb.1	-	75	13431	c.13208C>T	c.(13207-13209)tCg>tTg	p.S4403L	SYNE1_uc003qot.4_Missense_Mutation_p.S4332L|SYNE1_uc003qou.4_Missense_Mutation_p.S4403L|SYNE1_uc010kiz.3_Missense_Mutation_p.S158L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4403					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S4403L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTATAAGCGATTTCAGGAG	0.522000										HNSCC(10;0.0054)				21			36		0	0	0.003755	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033392	95033392	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:95033392G>A	uc010avd.3	+	2	1120	c.846G>A	c.(844-846)atG>atA	p.M282I	SERPINA4_uc001ydk.3_Missense_Mutation_p.M245I|SERPINA4_uc001ydl.3_Missense_Mutation_p.M245I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	245					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGGTGCCCATGATGCTGCAGG	0.498000														48			14		0	0	0.001855	0	0
RGAG1	57529	broad.mit.edu	37	X	109694200	109694200	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:109694200C>T	uc004eor.2	+	2	601	c.355C>T	c.(355-357)Cca>Tca	p.P119S	RGAG1_uc011msr.1_Missense_Mutation_p.P119S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	119								p.M118L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTGCTAATGCCAGCCTTAGA	0.522000														40			44		0	0	0.002522	0	0
UNC13A	23025	broad.mit.edu	37	19	17756847	17756847	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:17756847C>T	uc021uqk.1	-	17	2157	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	706	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A704V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTTGGTCTTCCCGACCTGGA	0.567000														17			17		0	0	0.006122	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555877	125555877	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:125555877T>C	uc010flu.3	+	18	3561	c.3197T>C	c.(3196-3198)gTt>gCt	p.V1066A	CNTNAP5_uc002tno.3_Missense_Mutation_p.V1065A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1065	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACTTCGTGGTTGTTCTGCTC	0.502000														74			11		0	0	0.001368	0	0
SLC17A2	10246	broad.mit.edu	37	6	25926018	25926018	+	Missense_Mutation	SNP	C	T	T	rs141137330		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:25926018C>T	uc011dkb.2	-	0	90	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	SLC17A2_uc011dkc.2_Missense_Mutation_p.G3R|SLC17A2_uc003nfl.3_Missense_Mutation_p.G3R			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	3					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGCTTCCCGTCCATTTAG	0.458000														109			78		0	0	0.003610	0	0
CLK2P	1197	broad.mit.edu	37	7	23625422	23625422	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:23625422G>A	uc003swk.2	-	0	725	c.75C>T	c.(73-75)ttC>ttT	p.F25F						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TGTCTTTGAGGAAATCGAAGG	0.532000														30			23		0	0	0.002299	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573337	38573337	+	Missense_Mutation	SNP	G	A	A	rs141105353		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:38573337G>A	uc002ohk.3	+	2	1641	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	378					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGCTTCCGCCGCCTCGGCCAT	0.682000														26			10		0	0	0.006214	0	0
URB2	9816	broad.mit.edu	37	1	229770694	229770694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:229770694C>T	uc001hts.1	+	3	470	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	URB2_uc009xfd.1_Missense_Mutation_p.L112F	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	112						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAGTTCTCTCTTTCGGGATC	0.433000														43			14		0	0	0.006122	0	0
SLX4	84464	broad.mit.edu	37	16	3632685	3632685	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:3632685G>A	uc002cvp.2	-	14	5790	c.5163C>T	c.(5161-5163)tcC>tcT	p.S1721S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1721	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.|Poly-Ser.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAAACTCACAGGAGGAAGAAC	0.592000								Direct reversal of damage						19			3		0	0	0.004672	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22486958	22486958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:22486958C>T	uc001rfo.4	-	0	691	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	70					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCTGGTTCCTCCTCCACGC	0.652000														45			20		0	0	0.002780	0	0
SIPA1	6494	broad.mit.edu	37	11	65413395	65413395	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:65413395G>A	uc001ofb.2	+	5	1397	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	SIPA1_uc010rom.1_Silent_p.T410T|SIPA1_uc001ofd.2_Silent_p.T410T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	410	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGTGTCCACGATGCTGCCTT	0.602000														1			8		0	0	0.000978	0	0
CRLF1	9244	broad.mit.edu	37	19	18707559	18707560	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18707559_18707560GG>AA	uc010ebt.2	-	5	1090_1091	c.896_897CC>TT	c.(895-897)gcc>gTT	p.A299V		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	299	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTTTCAGGCCGGCCAGGCGGCA	0.644000														17			20		0	0	0.004672	0	0
C1orf123	54987	broad.mit.edu	37	1	53684129	53684129	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:53684129G>A	uc001cvd.3	-	3	228	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	Homo sapiens chromosome 1 open reading frame 123 (C1orf123), mRNA.	62										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						TCTGGACCATGGAAGCACTGC	0.527000														33			16		0	0	0.004007	0	0
CEP72	55722	broad.mit.edu	37	5	620264	620264	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:620264C>T	uc003jbf.3	+	2	363	c.291C>T	c.(289-291)ctC>ctT	p.L97L	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	97					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTTTCGGCTCCACGCCTTAA	0.532000														46			8		0	0	0.004482	0	0
URGCP	55665	broad.mit.edu	37	7	43917430	43917431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:43917430_43917431GG>AA	uc003tiw.3	-	5	1688_1689	c.1631_1632CC>TT	c.(1630-1632)ccc>cTT	p.P544L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P501L|URGCP_uc003tiv.3_Missense_Mutation_p.P469L|URGCP_uc003tix.3_Missense_Mutation_p.P535L|URGCP_uc003tiy.3_Missense_Mutation_p.P501L|URGCP_uc003tiz.3_Missense_Mutation_p.P501L|URGCP_uc011kbj.2_Missense_Mutation_p.P501L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	544				P -> S (in Ref. 1; AAL83710).	cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCCGAGGAGGGATCATGGCC	0.634000														42			14		0	0	0.004672	0	0
TTC23L	153657	broad.mit.edu	37	5	34880300	34880300	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:34880300T>C	uc003jiu.3	+	8	1067	c.964T>C	c.(964-966)Tat>Cat	p.Y322H	TTC23L_uc010iut.1_Silent_p.Y92Y	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	Homo sapiens tetratricopeptide repeat domain 23-like (TTC23L), mRNA.	322							binding	p.I321M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TGTTGAGATATATTTCATAAG	0.348000														32			13		0	0	0.001368	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178943	38178943	+	Silent	SNP	T	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:38178943T>G	uc002rqn.2	+	1	711	c.585T>G	c.(583-585)acT>acG	p.T195T	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						CAAACACTACTTCTCCAGCCT	0.338000														90			45		0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702042	26702042	+	Silent	SNP	G	A	A	rs142670064		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:26702042G>A	uc003acb.3	+	5	1642	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	SEZ6L_uc003acd.3_Silent_p.T482T|SEZ6L_uc011akd.2_Silent_p.T482T|SEZ6L_uc003ace.3_Silent_p.T482T|SEZ6L_uc011akc.2_Silent_p.T482T|SEZ6L_uc003acc.3_Silent_p.T482T|SEZ6L_uc003acf.1_Silent_p.T255T|SEZ6L_uc010gvc.1_Silent_p.T255T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	482	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCATCTGGACGATTGAAGCTC	0.562000														41			29		0	0	0.006320	0	0
KRT3	3850	broad.mit.edu	37	12	53186124	53186124	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53186124G>A	uc001say.3	-	4	1153	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	363	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGGAGCGATTATTGTCC	0.522000														30			12		0	0	0.001368	0	0
OTOF	9381	broad.mit.edu	37	2	26700578	26700578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:26700578C>T	uc002rhk.3	-	18	2381	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	OTOF_uc002rhh.3_Missense_Mutation_p.E5K|OTOF_uc002rhi.3_Missense_Mutation_p.E62K|OTOF_uc002rhj.3_Missense_Mutation_p.E5K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	752					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGACTTCTCCGTTTTGATC	0.632000														34			11		0	0	0.008291	0	0
HIPK1	204851	broad.mit.edu	37	1	114512713	114512713	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:114512713G>A	uc001eem.3	+	13	3068	c.2907G>A	c.(2905-2907)ttG>ttA	p.L969L	HIPK1_uc001eel.3_Silent_p.L969L|HIPK1_uc001een.3_Silent_p.L969L|HIPK1_uc001eeo.3_Silent_p.L595L|HIPK1_uc001eep.3_Silent_p.L575L|HIPK1_uc001eeq.3_Silent_p.L261L	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	969	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCCGTTTTGGAGGGGCCTG	0.527000														115			35		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179396737	179396737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179396737C>T	uc021vsy.1	-	306	97126	c.96901G>A	c.(96901-96903)Gaa>Aaa	p.E32301K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25996K|TTN_uc021vta.1_Missense_Mutation_p.E25929K|TTN_uc021vtb.1_Missense_Mutation_p.E25804K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33228	Protein kinase.						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)			GTGTCATCTTCGTATTCCTCA	0.527000														29			8		0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451278	110451278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:110451278G>A	uc003yne.3	+	31	4017	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1305	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAAAACATGATATCTATGT	0.403000										HNSCC(38;0.096)				98			105		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9064474	9064474	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9064474G>A	uc002mkp.3	-	2	23176	c.22972C>T	c.(22972-22974)Cca>Tca	p.P7658S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7660	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGGTGTGGAAATCCCTGA	0.517000														34			11		0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237791188	237791188	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:237791188C>G	uc001hyl.1	+	40	6368	c.6248C>G	c.(6247-6249)gCc>gGc	p.A2083G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2083	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGTGAGGGCCATGTTTGTG	0.547000														21			11		0	0	0.001368	0	0
OR6F1	343169	broad.mit.edu	37	1	247875240	247875240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:247875240G>A	uc001idj.1	-	0	818	c.818C>T	c.(817-819)gCt>gTt	p.A273V		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACGTGGACAGCTTTGATCAG	0.478000														57			39		0	0	0.004878	0	0
C19orf63	284361	broad.mit.edu	37	19	50983964	50983964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:50983964G>A	uc002psl.3	+	4	595	c.529G>A	c.(529-531)Gac>Aac	p.D177N	C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Missense_Mutation_p.D177N	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	177						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		GGAGGACGTGGACCTGGAGCT	0.711000														12			4		0	0	0.000248	0	0
FLJ00285	0	broad.mit.edu	37	16	15224550	15224550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:15224550G>A	uc002ddh.2	-	1	723	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Missense_Mutation_p.R111C					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		GACTCTGGGCGGATCCTCCTG	0.677000														25			6		0	0	0.001168	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580888	11580888	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:11580888C>T	uc001ash.4	+	9	2483	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	PTCHD2_uc001asi.1_Missense_Mutation_p.S782F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	782					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGGCATCTCCTGCATCACC	0.637000														10			11		0	0	0.008291	0	0
SF3A2	8175	broad.mit.edu	37	19	2246990	2246990	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:2246990C>T	uc002lvg.3	+	6	637	c.515C>T	c.(514-516)gCc>gTc	p.A172V	AMH_uc002lvh.2_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	172					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCATGGCCGCCGAGCCC	0.637000														63			14		0	0	0.007413	0	0
APLNR	187	broad.mit.edu	37	11	57003509	57003509	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:57003509G>A	uc001njo.3	-	0	1419	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	324						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCACAGCAGAGCATGGAGGTG	0.642000														28			14		0	0	0.002450	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785647	1785647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:1785647C>T	uc002ltw.3	-	25	3448	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ATP8B3_uc002ltv.3_Missense_Mutation_p.E1035K|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1072					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGAGCTCGTCCTTCTGC	0.607000														24			11		0	0	0.001855	0	0
ATF7	11016	broad.mit.edu	37	12	53918499	53918499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53918499C>T	uc001sdy.3	-	8	1028	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R325H|ATF7_uc010sol.2_Missense_Mutation_p.R304H	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	336	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						ATCTACTGTGCGCCGCCGTCG	0.602000														17			7		0	0	0.001984	0	0
PARL	55486	broad.mit.edu	37	3	183551569	183551569	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:183551569G>A	uc003fmd.3	-	7	932	c.873C>T	c.(871-873)atC>atT	p.I291I	PARL_uc003fme.3_Silent_p.I241I	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	291					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCCTTCTGGGATCTTAGTGC	0.478000														67			19		0	0	0.002299	0	0
RNF103	7844	broad.mit.edu	37	2	86839319	86839319	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:86839319T>A	uc002srn.3	-	2	1436	c.445A>T	c.(445-447)Ata>Tta	p.I149L	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.I10L|RNF103_uc021vkg.1_Missense_Mutation_p.I145L|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	149					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCTGTACGTATTCCAAATCTT	0.378000														77			23		0	0	0.003330	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565009	58565009	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:58565009C>T	uc002qrc.1	+	5	1064	c.817C>T	c.(817-819)Caa>Taa	p.Q273*		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGTGGTACCCAAGAGGCTGT	0.627000														65			12		0	0	0.002450	0	0
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	T	T	rs148654261		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:91769874C>T	uc002bqv.3	+	2	1272	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_uc002bqt.3_Silent_p.F127F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512000														457			206		0	0	0.003610	0	0
TTC29	83894	broad.mit.edu	37	4	147830247	147830248	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:147830247_147830248CC>TT	uc003ikx.4	-	5	658_659	c.408_409GG>AA	c.(406-411)ctggag>ctAAag	p.E137K	TTC29_uc003ikw.4_Missense_Mutation_p.E111K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E111K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	111							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGCTGCTCCTCCAGGGGCTTCT	0.574000														66			24		0	0	0.004672	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369027	60369027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:60369027C>T	uc003jsp.4	+	1	330	c.203C>T	c.(202-204)cCa>cTa	p.P68L	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	68						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				GGGGATATTCCAACAGAATGG	0.313000														115			37		0	0	0.006999	0	0
DDX60	55601	broad.mit.edu	37	4	169229235	169229235	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:169229235G>A	uc003irp.3	-	3	478	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	62							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAAGAAATGGAGGTTCTGCC	0.343000														78			17		0	0	0.007413	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764859	130764859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:130764859G>A	uc003kvn.2	-	26	4722	c.4516C>T	c.(4516-4518)Ccc>Tcc	p.P1506S	RAPGEF6_uc003kvp.2_Missense_Mutation_p.P1556S|RAPGEF6_uc003kvo.2_Intron|RAPGEF6_uc010jdi.2_Missense_Mutation_p.P1514S|RAPGEF6_uc010jdj.2_Intron|RAPGEF6_uc003kvm.2_Missense_Mutation_p.P429S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1506					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGAGGAGTGGGAGGTGGCTCC	0.448000														45			22		0	0	0.005443	0	0
C15orf53	400359	broad.mit.edu	37	15	38990376	38990376	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:38990376C>T	uc001zkf.1	+	1	180	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	57										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		gaacatctaacccagggccac	0.428000														28			9		0	0	0.004482	0	0
MAML3	55534	broad.mit.edu	37	4	140811906	140811906	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:140811906G>A	uc021xsg.1	-	1	1436	c.684C>T	c.(682-684)ccC>ccT	p.P228P	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	228					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGTTCTGCAAGGGCAAAGAAG	0.483000														42			15		0	0	0.003163	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41447372	41447372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:41447372G>A	uc010ehh.1	+	4	825	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GCTCCACATGGAAAAAGTGGG	0.567000														50			31		0	0	0.008361	0	0
CKAP5	9793	broad.mit.edu	37	11	46797807	46797807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:46797807C>T	uc001ndi.2	-	23	3115	c.2989G>A	c.(2989-2991)Gag>Aag	p.E997K	CKAP5_uc009ylg.1_Missense_Mutation_p.E883K|CKAP5_uc001ndj.2_Missense_Mutation_p.E997K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	997					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATACTAACCTCTTGCCTCAAG	0.408000														19			17		0	0	0.006122	0	0
MGAT4A	11320	broad.mit.edu	37	2	99342746	99342746	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:99342746G>A	uc002sze.3	-	1	364	c.50C>T	c.(49-51)tCc>tTc	p.S17F	MGAT4A_uc010fil.3_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	17					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTAAGGAAGGAAGTGATAAA	0.408000														32			13		0	0	0.006122	0	0
GATAD1	57798	broad.mit.edu	37	7	92080050	92080050	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:92080050C>T	uc003ulx.1	+	2	690	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA.	137							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACTATAATCACTGCAGAAT	0.388000														39			15		0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82595691	82595691	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82595691G>A	uc003uhx.2	-	3	3702	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	PCLO_uc003uhv.2_Missense_Mutation_p.P1138L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1077					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGGAACAGGCATAGGAGA	0.428000														69			32		0	0	0.002096	0	0
CYP3A4	1576	broad.mit.edu	37	7	99375658	99375658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:99375658C>T	uc003urv.2	-	2	318	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	CYP3A4_uc003urw.2_Missense_Mutation_p.V71M|CYP3A4_uc011kiz.2_Missense_Mutation_p.V71M	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	71					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CACCCCCACACTTTTCCATAC	0.388000														30			20		0	0	0.003954	0	0
CUX2	23316	broad.mit.edu	37	12	111749989	111749989	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:111749989C>T	uc001tsa.2	+	15	2140	c.1986C>T	c.(1984-1986)atC>atT	p.I662I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	662						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAAGGAGATCGAGTCGCAGA	0.612000														10			4		0	0	0.000248	0	0
TP73	7161	broad.mit.edu	37	1	3638759	3638759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:3638759G>A	uc001akp.3	+	4	714	c.604G>A	c.(604-606)Gac>Aac	p.D202N	TP73_uc021ofb.1_Missense_Mutation_p.D202N|TP73_uc021ofc.1_Missense_Mutation_p.D202N|TP73_uc021ofd.1_Missense_Mutation_p.D202N|TP73_uc021ofe.1_Missense_Mutation_p.D202N|TP73_uc021off.1_Missense_Mutation_p.D202N|TP73_uc010nzj.2_Missense_Mutation_p.D153N|TP73_uc021ofg.1_Missense_Mutation_p.D153N|TP73_uc021ofh.1_Missense_Mutation_p.D153N|TP73_uc021ofi.1_Missense_Mutation_p.D153N|TP73_uc001akr.3_Missense_Mutation_p.D153N|TP73_uc009vlk.2_Missense_Mutation_p.D153N|TP73_uc001aks.3_Missense_Mutation_p.D153N|TP73_uc010nzk.2_Missense_Mutation_p.D131N	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	202	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCTCGGGAGGGACTTCAACGA	0.657000														37			11		0	0	0.000978	0	0
CD300A	11314	broad.mit.edu	37	17	72470746	72470746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:72470746C>T	uc002jkv.3	+	2	776	c.455C>T	c.(454-456)tCa>tTa	p.S152L	CD300A_uc002jkw.3_Missense_Mutation_p.S39L|CD300A_uc010dfr.3_Missense_Mutation_p.S39L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	152					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCACCTGTATCATCCACTACC	0.527000														45			46		0	0	0.002852	0	0
EPHB6	2051	broad.mit.edu	37	7	142563272	142563272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142563272C>T	uc011kst.2	+	7	1776	c.989C>T	c.(988-990)cCc>cTc	p.P330L	EPHB6_uc011ksu.2_Missense_Mutation_p.P330L|EPHB6_uc003wbs.3_Missense_Mutation_p.P38L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.P38L|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	330	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGAATGCTCCCTGCTCACCA	0.662000														29			15		0	0	0.004007	0	0
TIAM2	26230	broad.mit.edu	37	6	155451385	155451385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:155451385C>T	uc003qqb.3	+	5	2301	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	TIAM2_uc003qqe.3_Missense_Mutation_p.S343F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	343					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATGTGCCCTCCAGAGTGGCA	0.562000														32			27		0	0	0.008361	0	0
BANK1	55024	broad.mit.edu	37	4	102951268	102951268	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:102951268G>A	uc003hvy.4	+	9	2020	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	BANK1_uc003hvx.4_Silent_p.E567E|BANK1_uc010ill.3_Silent_p.E449E|BANK1_uc003hvz.4_Silent_p.E552E	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	582					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTTTGCTGAGATTGATGACA	0.403000														27			16		0	0	0.004007	0	0
COQ4	51117	broad.mit.edu	37	9	131094457	131094458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:131094457_131094458CC>TT	uc004bur.4	+	4	775_776	c.428_429CC>TT	c.(427-429)ccc>cTT	p.P143L	COQ4_uc010mxy.3_Missense_Mutation_p.P119L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	143					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						ACCCGAGCACCCACCCGCTTCG	0.599000														4			3		0	0	0.004672	0	0
NCOR2	9612	broad.mit.edu	37	12	124856641	124856641	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:124856641G>A	uc021rga.1	-	19	2851	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	NCOR2_uc021rgb.1_Missense_Mutation_p.P895S|NCOR2_uc010tbb.2_Missense_Mutation_p.P912S|NCOR2_uc010tbc.2_Missense_Mutation_p.P894S|NCOR2_uc021rgc.1_Missense_Mutation_p.P894S|NCOR2_uc010tba.2_Missense_Mutation_p.P912S|NCOR2_uc001ugj.1_Missense_Mutation_p.P912S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	912					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTCCTGGGGGGCGCCCGAG	0.711000														43			8		0	0	0.001855	0	0
PTPRN2	5799	broad.mit.edu	37	7	157903556	157903556	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:157903556G>A	uc003wno.3	-	9	1729	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	PTPRN2_uc003wnp.3_Silent_p.L519L|PTPRN2_uc003wnq.3_Intron|PTPRN2_uc003wnr.3_Silent_p.L498L|PTPRN2_uc011kwa.2_Silent_p.L559L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	536						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L536L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCACCTGCAGGAGGCGGGCGA	0.662000														9			7		0	0	0.003080	0	0
IFNA1	3439	broad.mit.edu	37	9	21441071	21441071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:21441071G>A	uc003zpd.2	+	0	619	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_024013	NP_076918	P01562	IFNA1_HUMAN	Homo sapiens interferon, alpha 1 (IFNA1), mRNA.	189					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGGAGGAAGGAATAACATCT	0.408000														85			45		0	0	0.003610	0	0
AP2A2	161	broad.mit.edu	37	11	984647	984647	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:984647C>T	uc001lst.2	+	6	921	c.708C>T	c.(706-708)atC>atT	p.I236I	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.I236I	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	236					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCTTACAGATCGTGACGTCTG	0.557000														65			57		0	0	0.003610	0	0
GRHL1	29841	broad.mit.edu	37	2	10101265	10101265	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:10101265C>T	uc002raa.3	+	3	540	c.369C>T	c.(367-369)gtC>gtT	p.V123V	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	123					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTAACATTGTCCTTCCCCATG	0.473000														24			5		0	0	0.000602	0	0
ODZ1	10178	broad.mit.edu	37	X	123805540	123805540	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:123805540C>T	uc010nqy.3	-	5	1225	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	ODZ1_uc011muj.2_Silent_p.E386E|ODZ1_uc004euj.3_Silent_p.E387E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	387					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D386N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TACCTTTTTTCTCTGATTTAT	0.378000														16			23		0	0	0.002299	0	0
SLC4A9	83697	broad.mit.edu	37	5	139742515	139742515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:139742515C>T	uc003lfm.2	+	6	933	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276C|SLC4A9_uc011czg.1_Missense_Mutation_p.R276C|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276C|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276C	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	300						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R300C(3)|p.R274C(1)|p.R274S(1)|p.R300S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTCAGTTCGTCGGGCCAG	0.542000											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			32		0	0	0.003755	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086035	31086035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:31086035G>A	uc009yjk.1	-	7	985	c.916C>T	c.(916-918)Cct>Tct	p.P306S	DCDC5_uc009yjl.1_Missense_Mutation_p.P234S|DCDC5_uc001msu.2_Missense_Mutation_p.P477S	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GAAGCCTTAGGATGTTTCTCT	0.453000														82			67		0	0	0.003610	0	0
DDX60L	91351	broad.mit.edu	37	4	169343713	169343713	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:169343713C>T	uc021xuh.1	-	14	2316	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	DDX60L_uc003irq.4_Missense_Mutation_p.D736N|DDX60L_uc003irr.1_Missense_Mutation_p.D736N|DDX60L_uc003irs.1_Missense_Mutation_p.D463N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	736							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCCTGGGATCCCGATCTTTT	0.388000														14			4		0	0	0.000602	0	0
PHKA1	5255	broad.mit.edu	37	X	71822120	71822120	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:71822120C>T	uc004eax.4	-	26	3222	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	PHKA1_uc004eay.4_Missense_Mutation_p.R974H|PHKA1_uc011mqi.2_Missense_Mutation_p.R915H	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	974					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R974S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCAGTGGGACGAACTATGTA	0.363000														3			4		0	0	0.000248	0	0
KIAA1033	23325	broad.mit.edu	37	12	105534683	105534684	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:105534683_105534684GT>AA	uc010swr.2	+	16	1657_1658	c.1570_1571GT>AA	c.(1570-1572)gtg>AAg	p.V524K	KIAA1033_uc001tld.3_Missense_Mutation_p.V523K|KIAA1033_uc010sws.2_Missense_Mutation_p.V335K	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	523					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAAGAAAAGAGTGATTTCTGAC	0.356000														49			11		0	0	0.004672	0	0
NSL1	25936	broad.mit.edu	37	1	212964981	212964981	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:212964981G>A	uc001hjn.3	-	0	159	c.125C>T	c.(124-126)tCg>tTg	p.S42L	NSL1_uc001hjm.3_Missense_Mutation_p.S42L|NSL1_uc010pti.2_Missense_Mutation_p.S42L|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	42					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AGCCCGCTTCGAGGTGCAGCG	0.642000														78			46		0	0	0.002852	0	0
MSTN	2660	broad.mit.edu	37	2	190922360	190922360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:190922360G>A	uc002urp.3	-	2	885	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	251					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTCTAAAAACGGATTCTGTTT	0.368000														31			12		0	0	0.001855	0	0
DDX49	54555	broad.mit.edu	37	19	19032527	19032527	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:19032527C>T	uc002nkq.2	+	2	362	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	99	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GCCTCTAGGGCTGAAAGACTG	0.647000														60			31		0	0	0.005524	0	0
C1orf49	84066	broad.mit.edu	37	1	178489992	178489992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:178489992C>T	uc001glt.2	+	6	638	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	C1orf49_uc021pfd.1_Missense_Mutation_p.H176Y|C1orf49_uc001glu.1_Missense_Mutation_p.H176Y|C1orf49_uc021pfe.1_Missense_Mutation_p.H176Y|C1orf49_uc001glw.2_Missense_Mutation_p.H184Y|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	176						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						TCCCCTTCATCACTGTGGGAC	0.577000														32			15		0	0	0.004990	0	0
RYR3	6263	broad.mit.edu	37	15	33927852	33927852	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:33927852C>T	uc001zhi.3	+	25	3283	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I	RYR3_uc010bar.3_Silent_p.I1071I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1071	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGACAAGATCCGATTTTTCC	0.493000														19			8		0	0	0.004482	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539167	95539167	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:95539167G>A	uc003ygo.2	-	7	1376	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	KIAA1429_uc003ygp.3_Silent_p.T435T|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	435					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGCTTGCATGGTCCAGTCTA	0.398000														55			56		0	0	0.003610	0	0
BEST2	54831	broad.mit.edu	37	19	12865723	12865723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:12865723G>A	uc002mux.3	+	3	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	172					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAAGAAGTTTGAAAACCTGAA	0.622000														19			6		0	0	0.001984	0	0
MYCN	4613	broad.mit.edu	37	2	16086120	16086120	+	Silent	SNP	C	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:16086120C>A	uc002rci.3	+	2	1596	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	MYCN_uc010yjr.2_Silent_p.S432S	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	432	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ATGTCCACTCCCTCCAGGCCG	0.512000			A		neuroblastoma									182			45		6.68952e-21	7.7123e-21	0.003214	1	0
RIMS1	22999	broad.mit.edu	37	6	72596778	72596778	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:72596778C>T	uc003pga.3	+	0	129	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	18					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTGCCTCCCCCCATGCAAGA	0.632000														18			4		0	0	0.000248	0	0
ABCA4	24	broad.mit.edu	37	1	94485300	94485300	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:94485300C>T	uc001dqh.3	-	35	5138	c.5034G>A	c.(5032-5034)gtG>gtA	p.V1678V	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1678					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCATCCACTGAAGTGG	0.532000														8			9		0	0	0.004482	0	0
NOV	4856	broad.mit.edu	37	8	120429133	120429133	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:120429133G>A	uc003yoq.2	+	1	455	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	78	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCAGATCTGGAGCCATGCG	0.672000											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			27		0	0	0.006320	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516048	138516048	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:138516048G>A	uc010nbd.1	-	4	980	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	242					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.D241Y(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATTCTTTGATGAAGTCTAAAA	0.398000														53			38		0	0	0.007835	0	0
CACNA1S	779	broad.mit.edu	37	1	201039473	201039473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:201039473C>T	uc001gvv.3	-	16	2514	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	763					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCTGCAGCTCAGCCAGGGGA	0.607000														110			24		0	0	0.006320	0	0
CKM	1158	broad.mit.edu	37	19	45810756	45810756	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:45810756C>T	uc002pbd.3	-	6	1103	c.930G>A	c.(928-930)gaG>gaA	p.E310E		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	310	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTGAGGATCTCCTCGAACT	0.642000														32			10		0	0	0.006214	0	0
IQCH	64799	broad.mit.edu	37	15	67629324	67629324	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:67629324G>A	uc002aqo.2	+	4	496	c.399G>A	c.(397-399)tcG>tcA	p.S133S	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	133										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TAAAGGTTTCGAAGTTAATCA	0.343000														41			15		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9083586	9083586	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9083586C>T	uc002mkp.3	-	0	8433	c.8229G>A	c.(8227-8229)tcG>tcA	p.S2743S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2743L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACTGTGATCGAACCTTCAT	0.463000														86			54		0	0	0.003610	0	0
DET1	55070	broad.mit.edu	37	15	89073862	89073862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:89073862G>A	uc002bmq.2	-	2	1297	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.P359S|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	359						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACCTGTGATGGATCTGTGACT	0.448000														61			24		0	0	0.004656	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45960014	45960014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:45960014G>A	uc002zfh.1	-	0	65	c.20C>T	c.(19-21)tCc>tTc	p.S7F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	7						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAGCAGACGGACATGGTGGA	0.662000														56			19		0	0	0.008871	0	0
CAB39L	81617	broad.mit.edu	37	13	49924970	49924970	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:49924970G>A	uc001vcw.3	-	4	972	c.474C>T	c.(472-474)atC>atT	p.I158I	CAB39L_uc001vcx.3_Silent_p.I158I|CAB39L_uc010adf.3_Silent_p.I155I	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	158					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.I158V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAAAGAGGATGATTTTGGCAA	0.368000														45			14		0	0	0.003163	0	0
PSME4	23198	broad.mit.edu	37	2	54115873	54115873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:54115873G>A	uc002rxp.2	-	37	4429	c.4373C>T	c.(4372-4374)tCc>tTc	p.S1458F	PSME4_uc010yop.1_Missense_Mutation_p.S1344F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.S833F|PSME4_uc010fbv.1_Missense_Mutation_p.S602F|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1458					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCTACAAAGGATCCTCCTTC	0.353000														90			35		0	0	0.005524	0	0
JMJD1C	221037	broad.mit.edu	37	10	64949134	64949134	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:64949134G>A	uc001jmn.3	-	17	6664	c.6364C>T	c.(6364-6366)Cca>Tca	p.P2122S	JMJD1C_uc001jml.3_Missense_Mutation_p.P1885S|JMJD1C_uc001jmm.3_Missense_Mutation_p.P1834S|JMJD1C_uc010qiq.2_Missense_Mutation_p.P1940S|JMJD1C_uc009xpi.3_Missense_Mutation_p.P1940S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_Missense_Mutation_p.P29S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2122					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTACTTGGTGGAATTTTGTTT	0.318000														54			10		0	0	0.008291	0	0
FREM2	341640	broad.mit.edu	37	13	39262764	39262764	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:39262764T>A	uc001uwv.3	+	0	1592	c.1283T>A	c.(1282-1284)aTg>aAg	p.M428K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	428					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGCCTTCATGGTAGTGGTG	0.547000														47			21		0	0	0.001882	0	0
LAMA5	3911	broad.mit.edu	37	20	60911420	60911421	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:60911420_60911421GG>AA	uc002ycq.3	-	17	2365_2366	c.2298_2299CC>TT	c.(2296-2301)agcccc>agTTcc	p.P767S	LAMA5_uc021wfw.1_Missense_Mutation_p.P767S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	767	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTGCTGGGGCTCAGTCCCC	0.624000														90			7		0	0	0.004672	0	0
MYEOV	26579	broad.mit.edu	37	11	69063157	69063157	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:69063157C>T	uc001oov.3	+	2	690	c.240C>T	c.(238-240)ctC>ctT	p.L80L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Silent_p.L80L|MYEOV_uc001oow.3_Silent_p.L22L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	80										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGGGCCGCCTCTGTCTCTCCC	0.622000														52			45		0	0	0.002852	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038588	1038588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:1038588C>T	uc001ift.3	+	1	279	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_5'UTR|GTPBP4_uc010qae.2_Missense_Mutation_p.P23S	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	70					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AACAGATTTCCCCAAATTGGA	0.353000														13			3		0	0	0.004672	0	0
CDC42	998	broad.mit.edu	37	1	22413183	22413183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:22413183C>T	uc001bfq.3	+	5	602	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	CDC42_uc009vqg.1_Missense_Mutation_p.H104Y|CDC42_uc001bfp.3_Missense_Mutation_p.H104Y|CDC42_uc009vqh.3_Missense_Mutation_p.H63Y|CDC42_uc001bfr.3_Missense_Mutation_p.H104Y|CDC42_uc010odr.2_Missense_Mutation_p.H149Y|CDC42_uc010ods.2_Missense_Mutation_p.H146Y	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	104					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GATAACTCACCACTGTCCAAA	0.378000														233			45		0	0	0.002522	0	0
EPHA6	285220	broad.mit.edu	37	3	97124098	97124098	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:97124098G>A	uc010how.1	+	5	1754	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	476						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E477K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGACTACGAGATCAAGTA	0.388000														20			5		0	0	0.001168	0	0
KCNB1	3745	broad.mit.edu	37	20	48098557	48098557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:48098557G>A	uc002xur.1	-	0	627	c.461C>T	c.(460-462)aCc>aTc	p.T154I	KCNB1_uc002xus.1_Missense_Mutation_p.T154I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	154					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCCCGTAGGGTCTCGGCCTC	0.577000														115			16		0	0	0.004007	0	0
ACTN2	88	broad.mit.edu	37	1	236917271	236917271	+	Missense_Mutation	SNP	G	A	A	rs138452803	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:236917271G>A	uc001hyf.2	+	15	2068	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	ACTN2_uc001hyg.2_Missense_Mutation_p.D414N|ACTN2_uc009xgi.1_Missense_Mutation_p.D622N|ACTN2_uc010pxu.1_Missense_Mutation_p.D311N	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	622					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCCATCCGCGATCAATCCCT	0.582000														78			49		0	0	0.003610	0	0
C16orf7	9605	broad.mit.edu	37	16	89777064	89777064	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:89777064G>A	uc002fom.1	-	9	1313	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	C16orf7_uc002fol.1_Silent_p.G326G|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	396					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTACCCCACGGCCCCGGCCCT	0.682000														11			8		0	0	0.004482	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090463	238090463	+	RNA	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:238090463C>T	uc010pyc.2	+	11		c.1969C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		CTGCCCGAACCCCAAGGCCAA	0.582000														15			20		0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179640134	179640134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179640134C>T	uc021vsy.1	-	27	6682	c.6457G>A	c.(6457-6459)Gcc>Acc	p.A2153T	TTN_uc021vsz.1_Missense_Mutation_p.A2107T|TTN_uc021vta.1_Missense_Mutation_p.A2107T|TTN_uc021vtb.1_Missense_Mutation_p.A2107T|TTN_uc002unb.2_Missense_Mutation_p.A2153T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2153	Ig-like 10.						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)			ATGTTGATGGCTTTTACCATG	0.448000														50			18		0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56244333	56244333	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56244333C>T	uc002qly.3	-	1	892	c.864G>A	c.(862-864)cgG>cgA	p.R288R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	288	NACHT.					cytoplasm	ATP binding	p.R288W(2)|p.R288Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTTGGATGCCGCAACATAA	0.383000														36			32		0	0	0.008361	0	0
SGK223	157285	broad.mit.edu	37	8	8235332	8235332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:8235332G>A	uc003wsh.4	-	1	587	c.587C>T	c.(586-588)cCt>cTt	p.P196L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	196							ATP binding|non-membrane spanning protein tyrosine kinase activity										GTCTTGGTAAGGAAATGAGGG	0.627000														48			14		0	0	0.003163	0	0
OR1D2	4991	broad.mit.edu	37	17	2995981	2995982	+	Silent	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:2995981_2995982GG>AA	uc010vrb.2	-	0	309_310	c.309_310CC>TT	c.(307-312)ttcctg>ttTTtg	p.103_104FL>FL		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	103					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.Y102*(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AAGGAGACCAGGAAGTAGAGCT	0.545000														75			69		0	0	0.004672	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250839	79250839	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:79250839A>G	uc002jzz.1	-	6	1096	c.721T>C	c.(721-723)Tac>Cac	p.Y241H	SLC38A10_uc002jzy.1_Missense_Mutation_p.Y159H|SLC38A10_uc002kab.3_Missense_Mutation_p.Y241H	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	241					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCATGACGTAGAAGGTGGTG	0.592000														30			25		0	0	0.005443	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468534	72468534	+	Splice_Site	SNP	C	T	T	rs145552242		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:72468534C>T	uc001jrg.3	+	4	870	c.870_splice	c.e4+1	p.I290_splice	ADAMTS14_uc001jrh.3_Splice_Site_p.I290_splice	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	290	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCATGAATATCGTGAGTGTCC	0.602000														53			14		0	0	0.003163	0	0
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:131795943G>A	uc003ytd.4	-	16	3518	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_uc010mds.3_Missense_Mutation_p.R957W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512000										HNSCC(32;0.087)				24			21		0	0	0.001882	0	0
STAB2	55576	broad.mit.edu	37	12	104138991	104138991	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:104138991C>T	uc001tjw.3	+	56	6258	c.6072C>T	c.(6070-6072)atC>atT	p.I2024I	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2024					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGATGGCATCACGGGCTCCG	0.592000														54			14		0	0	0.001855	0	0
OR6C4	341418	broad.mit.edu	37	12	55945560	55945560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:55945560G>A	uc010spp.2	+	0	550	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GCCTCTCGTGGAGCTTGCCTG	0.473000														77			25		0	0	0.004656	0	0
NPAS1	4861	broad.mit.edu	37	19	47542741	47542741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:47542741C>T	uc002pfw.3	+	7	1077	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NPAS1_uc002pfy.3_Missense_Mutation_p.P294L|NPAS1_uc010xyj.2_Missense_Mutation_p.P118L	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	294	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCCCGGCCCCCCTGGCTGAG	0.667000														37			6		0	0	0.001984	0	0
MED12L	116931	broad.mit.edu	37	3	150908586	150908586	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:150908586C>G	uc003eyp.3	+	12	1965	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	MED12L_uc011bnz.2_Missense_Mutation_p.F472L|MED12L_uc003eyn.3_Missense_Mutation_p.F612L|MED12L_uc003eyo.3_Missense_Mutation_p.F612L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	612					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGATGTCTTCTCCCATGACG	0.488000														35			26		0	0	0.005443	0	0
AADACL3	126767	broad.mit.edu	37	1	12785679	12785679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:12785679G>A	uc009vnn.1	+	3	1002	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	AADACL3_uc001aug.1_Missense_Mutation_p.E187K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	257							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTACTTGGAAGTAAGTGT	0.502000														111			34		0	0	0.003755	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														609			44		0	0	0.003610	0	0
FNDC9	408263	broad.mit.edu	37	5	156770010	156770010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:156770010G>A	uc003lwu.2	-	1	723	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.P179S	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	179						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCACCAGGGGGAGCCCCTGC	0.622000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			24		0	0	0.002780	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325570	150325570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:150325570C>T	uc022apv.1	-	2	806	c.326G>A	c.(325-327)aGg>aAg	p.R109K	GIMAP6_uc003whn.3_Missense_Mutation_p.R39K|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	39							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCAGTCTCCTTGGGGTCTT	0.517000														284			133		0	0	0.003610	0	0
PLCE1	51196	broad.mit.edu	37	10	95931163	95931163	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:95931163C>T	uc001kjk.3	+	3	2353	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	PLCE1_uc010qnx.2_Silent_p.P573P|PLCE1_uc001kjm.3_Silent_p.P265P	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	573	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCCTTGCCCTGCCTCAAAG	0.507000														79			31		0	0	0.007291	0	0
TRANK1	9881	broad.mit.edu	37	3	36899476	36899476	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:36899476G>A	uc003cgj.3	-	11	1853	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	535					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGAGGTAGTCGAATTCAGTGG	0.498000														32			14		0	0	0.002450	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887001	9887001	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:9887001G>A	uc002koi.4	+	1	974	c.525G>A	c.(523-525)aaG>aaA	p.K175K	TXNDC2_uc002koh.4_Silent_p.K108K|TXNDC2_uc021ugx.1_Silent_p.K108K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	175	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCAGCCCAAGGAGGGTGACA	0.562000														94			38		0	0	0.004878	0	0
NXF1	10482	broad.mit.edu	37	11	62562463	62562464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:62562463_62562464CC>TT	uc001nvf.1	-	17	1656_1657	c.1520_1521GG>AA	c.(1519-1521)cgg>cAA	p.R507Q	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.R550Q	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	507	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAAAGAATCCCGGGACTTTCC	0.436000														26			32		0	0	0.004672	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:20043470G>A	uc002dgu.1	-	1	811	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	GPR139_uc010vaw.1_Missense_Mutation_p.R124C	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000														39			17		0	0	0.004007	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528908	76528908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76528908G>A	uc002fex.1	+	12	2330	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G727R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G592R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G655R|CNTNAP4_uc002few.2_Missense_Mutation_p.G703R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	728	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTAGAGGGAAACTGCAT	0.403000														83			24		0	0	0.003954	0	0
MECOM	2122	broad.mit.edu	37	3	168845762	168845762	+	Missense_Mutation	SNP	T	A	A	rs145122238		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:168845762T>A	uc011bpj.1	-	4	1103	c.700A>T	c.(700-702)Act>Tct	p.T234S	MECOM_uc010hwk.1_Missense_Mutation_p.T69S|MECOM_uc003ffj.3_Missense_Mutation_p.T110S|MECOM_uc003ffi.3_Missense_Mutation_p.T46S|MECOM_uc011bpi.1_Missense_Mutation_p.T46S|MECOM_uc003ffn.3_Missense_Mutation_p.T46S|MECOM_uc003ffk.2_Missense_Mutation_p.T46S|MECOM_uc003ffl.2_Missense_Mutation_p.T206S|MECOM_uc011bpk.1_Missense_Mutation_p.T46S|MECOM_uc010hwn.2_Missense_Mutation_p.T234S|MECOM_uc003ffm.1_Missense_Mutation_p.T110S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGTGAGGAGTACTGCATGGA	0.433000														72			43		0	0	0.007835	0	0
ENPP3	5169	broad.mit.edu	37	6	131958601	131958601	+	Splice_Site	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:131958601T>A	uc003qcu.4	+	2	425	c.78_splice	c.e2+1	p.I26_splice	ENPP3_uc010kfn.1_Splice_Site|ENPP3_uc011ecc.1_Splice_Site|ENPP3_uc010kfo.1_Splice_Site|ENPP3_uc010kfp.1_Splice_Site|ENPP3_uc003qcv.3_Splice_Site_p.I26_splice|ENPP3_uc010kfq.3_Splice_Site	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	26					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATAGCTTGCATTGTAAGTACA	0.313000														23			28		0	0	0.005443	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460106	107460106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:107460106C>T	uc002tdq.3	-	1	447	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E110K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E110K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	110					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAAAACTCTTTATGTTCA	0.567000														82			145		0	0	0.003610	0	0
HOXA2	3199	broad.mit.edu	37	7	27140593	27140593	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:27140593G>A	uc003syh.3	-	1	1158	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	295						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGCAGTTGGGAACAGTGGGT	0.493000														93			50		0	0	0.003610	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711624	155711624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:155711624G>A	uc002tyv.1	+	2	1500	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	435					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACTTGCCCATGAAACTTCAAC	0.428000														67			50		0	0	0.003610	0	0
EPHA3	2042	broad.mit.edu	37	3	89456425	89456425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:89456425C>T	uc003dqy.3	+	7	1826	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	EPHA3_uc021xbf.1_Missense_Mutation_p.S534F	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	534						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAGCTTTCTCCATCTCTGGT	0.368000										TSP Lung(6;0.00050)				28			18		0	0	0.008871	0	0
ZNF208	7757	broad.mit.edu	37	19	22156959	22156959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:22156959C>T	uc021urr.1	-	3	1026	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACTAAAGGCTTTGCCACAT	0.398000														42			12		0	0	0.002450	0	0
NPHS1	4868	broad.mit.edu	37	19	36322622	36322622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:36322622C>T	uc002oby.3	-	23	3365	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	NPHS1_uc010eem.1_Intron	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1070					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGAAGCCCCCCAAGAGCGAA	0.647000														2			4		0	0	0.001168	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448446	142448446	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142448446G>A	uc011ksl.1	+	1	71	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Missense_Mutation_p.V10M					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTAGGCTCTGTGTTCAGTGC	0.502000														90			46		0	0	0.003610	0	0
TOP2B	7155	broad.mit.edu	37	3	25640942	25640942	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:25640942G>A	uc003cdj.2	-	34	4722	c.4679C>T	c.(4678-4680)tCc>tTc	p.S1560F	TOP2B_uc011awm.1_Missense_Mutation_p.S417F	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1565					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTTGTTTTGGATGTTTTCCT	0.383000														11			12		0	0	0.002450	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253797	36253797	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:36253797T>C	uc011cow.2	-	12	1687	c.1194A>G	c.(1192-1194)atA>atG	p.I398M	RANBP3L_uc003jkh.3_Missense_Mutation_p.I373M	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	373	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAGTAGCTGTTATTCGTACAT	0.348000														57			23		0	0	0.001882	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950932	12950932	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:12950932A>C	uc003bxt.2	-	10	2470	c.2461T>G	c.(2461-2463)Tac>Gac	p.Y821D	IQSEC1_uc003bxu.3_Missense_Mutation_p.Y699D|IQSEC1_uc011auw.1_Missense_Mutation_p.Y807D	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	821	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATTGGGGTAGTCTGCAAAA	0.537000														42			38		0	0	0.006999	0	0
GNAS	2778	broad.mit.edu	37	20	57430019	57430019	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:57430019G>A	uc002xzw.3	+	0	1984	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACTACGATGAAGGGGTGGC	0.687000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				18			12		0	0	0.002450	0	0
EPAS1	2034	broad.mit.edu	37	2	46607658	46607658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:46607658C>T	uc002ruv.3	+	11	2357	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	EPAS1_uc002ruw.3_Missense_Mutation_p.S82F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	616					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAAAGCATCCCTGCCACCG	0.592000														98			54		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82545198	82545198	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82545198T>C	uc003uhx.2	-	6	12393	c.12104A>G	c.(12103-12105)tAt>tGt	p.Y4035C	PCLO_uc003uhv.2_Missense_Mutation_p.Y4035C|PCLO_uc010lec.3_Missense_Mutation_p.Y1000C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3966					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATATCTGCATAGAAAGAATC	0.403000														77			39		0	0	0.004289	0	0
VPS54	51542	broad.mit.edu	37	2	64160857	64160857	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:64160857G>A	uc002scq.3	-	11	1852	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	VPS54_uc002scp.3_Silent_p.S551S|VPS54_uc002sco.3_Silent_p.S48S|VPS54_uc010fct.3_Silent_p.S410S	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	563					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTCTTTGCTGGATGAAGAAT	0.418000														47			30		0	0	0.003755	0	0
SSTR3	6753	broad.mit.edu	37	22	37603254	37603254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:37603254C>T	uc003ara.3	-	1	651	c.589G>A	c.(589-591)Gag>Aag	p.E197K	SSTR3_uc003arb.3_Missense_Mutation_p.E197K|SSTR3_uc021wos.1_Missense_Mutation_p.E197K	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	197					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCCGCCGGCTCGGGCCACTGC	0.692000														15			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	107062278	107062278	+	RNA	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:107062278C>T	uc021ser.1	-	150		c.6708G>A								Parts of antibodies, mostly variable regions.																		TTTCCCCAATCCACTCCAGCC	0.567000														37			21		0	0	0.001523	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:49393605G>A	uc001jgi.3	-	17	2681	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	FRMPD2_uc001jgh.3_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.3_Missense_Mutation_p.R753C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.R784C(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502000														66			12		0	0	0.001368	0	0
CUL9	23113	broad.mit.edu	37	6	43188593	43188593	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:43188593G>C	uc003ouk.3	+	32	6607	c.6532G>C	c.(6532-6534)Ggg>Cgg	p.G2178R	CUL9_uc003oul.3_Missense_Mutation_p.G2150R|CUL9_uc010jyk.3_Missense_Mutation_p.G1330R|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2178					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGGGCTGTGGGACCACCTG	0.652000														10			5		0	0	0.001984	0	0
FNDC8	54752	broad.mit.edu	37	17	33454267	33454268	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:33454267_33454268CC>TG	uc002hix.3	+	1	498_499	c.416_417CC>TG	c.(415-417)ccc>cTG	p.P139L		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	139										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GCGCTCGGCCCCTGCCCATGCC	0.569000														64			72		0	0	0.004672	0	0
TRPS1	7227	broad.mit.edu	37	8	116599332	116599332	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:116599332G>A	uc003yny.3	-	4	3174	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	TRPS1_uc011lhy.2_Silent_p.L857L|TRPS1_uc003ynz.3_Silent_p.L853L|TRPS1_uc010mcy.3_Silent_p.L853L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	853					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCCCCTGCAGGAATCCCTTG	0.577000									Langer-Giedion syndrome					31			22		0	0	0.002780	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915816	13915816	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:13915816C>T	uc002mxh.1	+	2	755	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ZSWIM4_uc010xng.1_5'UTR	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	189							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCCATCTCCGAGACGCTC	0.637000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			15		0	0	0.004990	0	0
DEFA6	1671	broad.mit.edu	37	8	6782349	6782349	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:6782349G>A	uc003wqt.3	-	1	335	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	98					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTCAGAGGCAGCAGAATCTGT	0.413000														45			8		0	0	0.004482	0	0
TPO	7173	broad.mit.edu	37	2	1480872	1480872	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:1480872C>T	uc002qwr.3	+	7	920	c.834C>T	c.(832-834)gcC>gcT	p.A278A	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.A278A|TPO_uc002qwx.3_Silent_p.A278A|TPO_uc002qwu.3_Silent_p.A278A|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.A278A	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	278					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGGAGGCCCGGCCGGCCG	0.701000														28			6		0	0	0.001984	0	0
LGALS13	29124	broad.mit.edu	37	19	40095857	40095857	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:40095857G>A	uc002omb.3	+	2	172	c.132G>A	c.(130-132)atG>atA	p.M44I		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	44	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACACTGACATGGATGAGGATT	0.517000														24			24		0	0	0.003954	0	0
ZFP106	64397	broad.mit.edu	37	15	42743290	42743290	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:42743290T>A	uc001zpw.3	-	1	1438	c.1111A>T	c.(1111-1113)Aag>Tag	p.K371*	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.K154*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.K394*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	371						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		ATTTCTGACTTGTTACCAGTG	0.453000														71			22		0	0	0.002299	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802161	140802161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140802161C>T	uc003lkq.2	+	0	1625	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.S456F|PCDHGC5_uc003lkp.2_Missense_Mutation_p.S456F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	457	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTCACTCCTCTTACTCT	0.547000														99			28		0	0	0.008361	0	0
TRPM7	54822	broad.mit.edu	37	15	50884498	50884498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:50884498G>A	uc001zyt.4	-	25	4216	c.3934C>T	c.(3934-3936)Cct>Tct	p.P1312S	TRPM7_uc010bew.2_Missense_Mutation_p.P1312S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1312					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAATGAAAAGGATTATTACTT	0.343000														44			14		0	0	0.001855	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285825	248285825	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:248285825G>C	uc001idy.1	+	0	388	c.388G>C	c.(388-390)Gtt>Ctt	p.V130L						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATTTGAAAAGGTTATTTTCAT	0.413000														112			84		0	0	0.003610	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:126730864A>C	uc003ejg.3	+	8	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	726					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652000														63			7		0	0	0.004990	0	0
HTT	3064	broad.mit.edu	37	4	3208296	3208296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:3208296C>T	uc021xkv.1	+	42	5937	c.5792C>T	c.(5791-5793)tCc>tTc	p.S1931F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1931					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCAGCCTTTCCCACGAGCCT	0.473000														32			15		0	0	0.003163	0	0
NCAM1	4684	broad.mit.edu	37	11	113078638	113078638	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:113078638T>G	uc021qqp.1	+	6	1196	c.824T>G	c.(823-825)gTg>gGg	p.V275G	NCAM1_uc001pno.3_Missense_Mutation_p.V159G|NCAM1_uc001pnp.3_Missense_Mutation_p.V275G|NCAM1_uc021qqo.1_Missense_Mutation_p.V275G|NCAM1_uc001pnq.3_Missense_Mutation_p.V275G|NCAM1_uc001pnr.3_Missense_Mutation_p.V275G	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	277	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATCAAAAAGGTGGATAAGAAC	0.502000														3			8		0	0	0.003080	0	0
CFH	3075	broad.mit.edu	37	1	196876452	196876452	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:196876452C>T	uc001gtp.3	+	4	760	c.623C>T	c.(622-624)tCa>tTa	p.S208L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S207L|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	565	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGATTCTTCAGAAAACTGT	0.373000														24			7		0	0	0.003080	0	0
HRASLS	57110	broad.mit.edu	37	3	192973511	192973512	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:192973511_192973512CC>TT	uc003fta.3	+	1	477_478	c.72_73CC>TT	c.(70-75)ttccgt>ttTTgt	p.R25C		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	25								p.R25H(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TCGAAGTGTTCCGTCCTGGCTA	0.490000														149			45		0	0	0.004672	0	0
ADAM18	8749	broad.mit.edu	37	8	39467047	39467047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:39467047C>T	uc003xni.3	+	4	366	c.311C>T	c.(310-312)tCa>tTa	p.S104L	ADAM18_uc003xnh.3_Missense_Mutation_p.S104L|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S104L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	104					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTCCAAATTCATTTGTGACA	0.318000														22			30		0	0	0.003271	0	0
CBX8	57332	broad.mit.edu	37	17	77768979	77768979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:77768979C>T	uc002jxd.2	-	4	743	c.625G>A	c.(625-627)Gac>Aac	p.D209N		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	209					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTGAGGGGTCCGGGAGCTCC	0.662000														14			11		0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55540389	55540389	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:55540389C>T	uc003xsd.1	+	3	4095	c.3947C>T	c.(3946-3948)gCt>gTt	p.A1316V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1316					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGCTTGTGCTCAAAAGGAG	0.413000														117			27		0	0	0.007291	0	0
ARID1A	8289	broad.mit.edu	37	1	27101084	27101084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:27101084C>T	uc001bmv.1	+	17	4739	c.4366C>T	c.(4366-4368)Cca>Tca	p.P1456S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1455S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.P1073S|ARID1A_uc001bmx.1_Missense_Mutation_p.P302S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1456					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAACCAATTTCCATTCCAGTT	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									106			20		0	0	0.001523	0	0
HGD	3081	broad.mit.edu	37	3	120394654	120394654	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:120394654G>A	uc003edw.3	-	1	532	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	24					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.G23D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTCTGGCAGGGAACCTGGGC	0.473000														70			55		0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130411868	130411868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:130411868C>T	uc004ewe.4	-	12	2580	c.2297G>A	c.(2296-2298)tGg>tAg	p.W766*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W761*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W752*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W741*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	761					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGCTCAGACCACTTGAAGGG	0.532000														11			18		0	0	0.007413	0	0
UPK3A	7380	broad.mit.edu	37	22	45691447	45691447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:45691447G>A	uc003bfy.3	+	5	738	c.711G>A	c.(709-711)atG>atA	p.M237I	UPK3A_uc010gzy.3_Missense_Mutation_p.M116I	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	237					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACAGGGACATGGGGAGTTCTG	0.552000														161			65		0	0	0.003610	0	0
ELAC2	60528	broad.mit.edu	37	17	12903502	12903502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:12903502C>T	uc002gnz.4	-	14	1511	c.1394G>A	c.(1393-1395)aGg>aAg	p.R465K	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Missense_Mutation_p.R93K|ELAC2_uc002gnx.4_Missense_Mutation_p.R225K|ELAC2_uc010vvo.2_Missense_Mutation_p.R263K|ELAC2_uc010vvp.2_Missense_Mutation_p.R446K|ELAC2_uc010vvq.2_Missense_Mutation_p.R464K|ELAC2_uc010vvr.2_Missense_Mutation_p.R425K	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	465					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTGCGCACTCCTCCTGTACTC	0.567000														19			23		0	0	0.002299	0	0
EPO	2056	broad.mit.edu	37	7	100320703	100320703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:100320703C>T	uc003uwi.3	+	4	710	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	EPO_uc011kkc.1_Missense_Mutation_p.R176W	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	177					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.R177W(2)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CAATTTCCTCCGGGGAAAGCT	0.572000														105			56		0	0	0.003610	0	0
KCTD14	65987	broad.mit.edu	37	11	77728067	77728067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:77728067C>T	uc001oyw.4	-	1	365	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	114	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGCTTGATTTCGTAGAACTGA	0.562000														30			13		0	0	0.003163	0	0
ARRB2	409	broad.mit.edu	37	17	4624283	4624283	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:4624283G>A	uc010vsg.2	+	14	1470	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ARRB2_uc002fyj.3_Silent_p.R393R|ARRB2_uc002fyk.3_Silent_p.R378R|ARRB2_uc002fyl.3_Silent_p.R405R|ARRB2_uc002fym.3_Silent_p.R390R|ARRB2_uc002fyn.3_Silent_p.R201R	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	393					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACTTTGCCCGGCTTCGGCTGA	0.562000														64			58		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661150	77661150	+	Silent	SNP	T	G	G	rs143936832	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:77661150T>G	uc011cbx.2	+	4	2777	c.1824T>G	c.(1822-1824)gcT>gcG	p.A608A	SHROOM3_uc011cbz.1_Silent_p.A432A|SHROOM3_uc003hkf.1_Silent_p.A483A|SHROOM3_uc003hkg.3_Silent_p.A386A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	608					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCTCAGGCTCAGGCCTGGC	0.562000														121			32		0	0	0.001786	0	0
CFI	3426	broad.mit.edu	37	4	110682768	110682768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:110682768C>T	uc011cft.2	-	3	771	c.563G>A	c.(562-564)gGa>gAa	p.G188E	CFI_uc003hzq.3_5'UTR|CFI_uc003hzr.4_Missense_Mutation_p.G188E	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	188	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGTCTCTAATCCTCGGCAATG	0.393000														47			21		0	0	0.008871	0	0
SSX8	280659	broad.mit.edu	37	X	52659398	52659398	+	RNA	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:52659398G>A	uc011moa.1	+	6		c.895G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		AGAACGATGGGAAACAGCTGC	0.463000														51			77		0	0	0.003610	0	0
FAM131B	9715	broad.mit.edu	37	7	143054391	143054391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:143054391C>T	uc010lpa.3	-	5	736	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	FAM131B_uc010loz.3_Missense_Mutation_p.E138K|FAM131B_uc003wct.3_Missense_Mutation_p.E170K|FAM131B_uc003wcu.4_Missense_Mutation_p.E170K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	170										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCATCAGTTCCTGGTAGTTG	0.542000														120			61		0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28725700	28725700	+	Silent	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:28725700T>C	uc002kwn.3	-	6	1075	c.813A>G	c.(811-813)gaA>gaG	p.E271E	DSC1_uc002kwm.3_Silent_p.E271E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	271	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAGTGTCAGGTTCGTCAAGGT	0.378000														55			20		0	0	0.002780	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101883	82101883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:82101883G>A	uc002fgv.3	+	1	546	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	125					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGGAATTGCGAAGAACCTGC	0.527000														38			10		0	0	0.008291	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376550	49376550	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:49376550C>T	uc002pky.4	+	1	329	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	20	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCCTTTCTTCCTCCTGTCCC	0.612000														29			20		0	0	0.002299	0	0
HMGB4	127540	broad.mit.edu	37	1	34330204	34330205	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:34330204_34330205GA>AC	uc021oky.1	+	0	412_413	c.412_413GA>AC	c.(412-414)gag>ACg	p.E138T	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.E138T|HMGB4_uc001bxq.3_Missense_Mutation_p.E64T	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	138						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GACAGACCTGGAGAAGCACCCT	0.525000														31			41		0	0	0.004672	0	0
GPR133	283383	broad.mit.edu	37	12	131498747	131498747	+	Silent	SNP	C	T	T	rs144882598	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:131498747C>T	uc010tbm.2	+	13	1990	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	GPR133_uc001uit.4_Silent_p.I445I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577000														39			9		0	0	0.008291	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12923992	12923992	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:12923992C>T	uc002mvg.1	+	6	793	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	245					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCAGACCATCCTGGAGAAAGA	0.592000														17			12		0	0	0.002450	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24693	24693	+	RNA	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrGL000241.1:24693A>C	uc011mgv.2	-	4		c.520T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TAGGGCCCTCATCAACTATTG	0.308000														16			9		0	0	0.006214	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533539	15533539	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:15533539T>A	uc003nbm.3	-	7	788	c.599A>T	c.(598-600)gAg>gTg	p.E200V	DTNBP1_uc003nbl.3_Missense_Mutation_p.E119V|DTNBP1_uc010jph.3_Missense_Mutation_p.E187V|DTNBP1_uc003nbp.3_Missense_Mutation_p.E200V	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	200	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GAAGGCTTCCTCAAAAAACTT	0.577000									Hermansky-Pudlak syndrome					56			65		0	0	0.003610	0	0
AKAP4	8852	broad.mit.edu	37	X	49957642	49957642	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:49957642G>A	uc004dow.1	-	4	1846	c.1722C>T	c.(1720-1722)acC>acT	p.T574T	AKAP4_uc004dou.1_Silent_p.T565T|AKAP4_uc004dov.1_Silent_p.T191T|AKAP4_uc010njp.1_Silent_p.T396T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	574					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATAGCCCATGGTGGAACCAG	0.483000														17			23		0	0	0.002299	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:42224866C>T	uc002orl.3	+	7	1917	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	CEACAM5_uc002orj.1_Missense_Mutation_p.S598F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547000														110			78		0	0	0.003610	0	0
PKLR	5313	broad.mit.edu	37	1	155264147	155264147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:155264147C>T	uc001fkb.4	-	6	1034	c.995G>A	c.(994-996)gGc>gAc	p.G332D	PKLR_uc001fka.4_Missense_Mutation_p.G301D	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	332			G -> S (in PKRD; loss of catalytical activity).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.G332V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACCATGATGCCGTCGCTCAC	0.572000														39			7		0	0	0.001984	0	0
LPHN3	23284	broad.mit.edu	37	4	62863907	62863907	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:62863907C>T	uc010ihh.3	+	17	3288	c.3115C>T	c.(3115-3117)Ctt>Ttt	p.L1039F	LPHN3_uc003hcq.4_Missense_Mutation_p.L1039F|LPHN3_uc003hct.3_Missense_Mutation_p.L432F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1026					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTAATCTTCCTTGGGATTGC	0.308000														36			9		0	0	0.006214	0	0
MDGA2	161357	broad.mit.edu	37	14	47351265	47351265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:47351265G>A	uc001wwj.4	-	10	2556	c.2398C>T	c.(2398-2400)Cgt>Tgt	p.R800C	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.R502C|MDGA2_uc010ani.3_Missense_Mutation_p.R291C	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	731	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R502C(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGATCACACGAATTGTTGAA	0.299000														8			4		0	0	0.000248	0	0
STIL	6491	broad.mit.edu	37	1	47746374	47746374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:47746374C>T	uc001crd.1	-	11	1911	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E539K|STIL_uc010omo.1_Missense_Mutation_p.E586K|STIL_uc001crc.1_Missense_Mutation_p.E586K|STIL_uc001cre.1_Missense_Mutation_p.E586K|STIL_uc001crf.1_Missense_Mutation_p.E199K|STIL_uc001crg.1_Missense_Mutation_p.E539K	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	586	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATCTGAAGTTCCATTGGTCTT	0.438000														71			41		0	0	0.008740	0	0
abParts	0	broad.mit.edu	37	14	107170333	107170333	+	RNA	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:107170333G>T	uc021ser.1	-	42		c.2633C>A								Parts of antibodies, mostly variable regions.																		TGTAGCTGCTGCCACCACAAA	0.522000														43			5		2.7689e-08	3.1596e-08	0.001984	1	0
CYP4F12	66002	broad.mit.edu	37	19	15791260	15791260	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:15791260G>A	uc002nbl.3	+	4	575	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F12_uc010xoo.2_Silent_p.T152T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGATGCTGACGCCCGCCTTCC	0.542000														33			20		0	0	0.007413	0	0
KDR	3791	broad.mit.edu	37	4	55961114	55961114	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:55961114C>T	uc003has.3	-	20	3128	c.2826G>A	c.(2824-2826)ggG>ggA	p.G942G	KDR_uc003hat.1_Silent_p.G942G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	942	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGAATCGTGCCCCTTTGGTCT	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				53			10		0	0	0.006214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813401	106813401	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:106813401G>A	uc003ymd.3	+	7	1114	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	ZFPM2_uc011lhs.2_Missense_Mutation_p.R95Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	364					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTGCCTTCCGATGTAATCAC	0.507000														115			118		0	0	0.003610	0	0
XPO4	64328	broad.mit.edu	37	13	21371181	21371181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:21371181G>A	uc001unq.4	-	16	2374	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	780					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATCGCTGCTGAAGTGGCTGA	0.408000														28			8		0	0	0.004482	0	0
SLC41A3	54946	broad.mit.edu	37	3	125741705	125741705	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:125741705G>A	uc003eij.3	-	5	895	c.669C>T	c.(667-669)ccC>ccT	p.P223P	SLC41A3_uc003eii.3_Silent_p.P197P|SLC41A3_uc003eil.3_Silent_p.P223P|SLC41A3_uc003eik.3_Silent_p.P187P|SLC41A3_uc011bkh.2_Silent_p.P106P|SLC41A3_uc010hsd.1_Silent_p.P238P	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	223						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCTGCAATGGGCGTGGCAA	0.507000														182			48		0	0	0.003610	0	0
C7orf58	79974	broad.mit.edu	37	7	120935499	120935499	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:120935499G>A	uc003vjq.4	+	22	3321	c.2874G>A	c.(2872-2874)gtG>gtA	p.V958V		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	958						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TACAGGTAGTGAAATCAAAGT	0.328000														8			5		0	0	0.000602	0	0
ACTN2	88	broad.mit.edu	37	1	236925828	236925829	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:236925828_236925829GG>AA	uc001hyf.2	+	20	2798_2799	c.2594_2595GG>AA	c.(2593-2595)agg>aAA	p.R865K	ACTN2_uc001hyg.2_Missense_Mutation_p.R657K|ACTN2_uc009xgi.1_Missense_Mutation_p.R865K|ACTN2_uc010pxu.1_Missense_Mutation_p.R554K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	865					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCATCAAGAGGATGCCCGCCT	0.594000														50			11		0	0	0.004672	0	0
NBAS	51594	broad.mit.edu	37	2	15615855	15615855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:15615855G>A	uc002rcc.1	-	13	1323	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	433										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGACTTGAGGTGATGGTTCA	0.368000														30			16		0	0	0.008871	0	0
KPRP	448834	broad.mit.edu	37	1	152733110	152733110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:152733110C>T	uc001fal.1	+	1	1104	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	KPRP_uc021ozf.1_Missense_Mutation_p.P349L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	349	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGATTCCTCCCATCAGACGC	0.652000														40			8		0	0	0.006214	0	0
MAST4	375449	broad.mit.edu	37	5	66461599	66461600	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:66461599_66461600CC>TT	uc021xzk.1	+	28	6900_6901	c.6592_6593CC>TT	c.(6592-6594)cct>TTt	p.P2198F	MAST4_uc003jut.2_Missense_Mutation_p.P2009F|MAST4_uc003juw.3_Missense_Mutation_p.P1937F|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2201	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGGCCTGGCCCTGACCCGGGC	0.658000														5			4		0	0	0.004672	0	0
C19orf46	163183	broad.mit.edu	37	19	36499198	36499199	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:36499198_36499199CC>TT	uc002ocq.1	-	1	288_289	c.199_200GG>AA	c.(199-201)ggc>AAc	p.G67N	C19orf46_uc021utd.1_Missense_Mutation_p.G67N|C19orf46_uc002ocr.1_Missense_Mutation_p.G67N|C19orf46_uc002ocs.1_Missense_Mutation_p.G67N|C19orf46_uc010een.1_Intron	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	67					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGCTCATTGCCCCTTGGCCCA	0.658000														67			19		0	0	0.004672	0	0
RFWD2	64326	broad.mit.edu	37	1	176050324	176050324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:176050324G>A	uc001gku.1	-	10	1497	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	RFWD2_uc001gkv.1_Missense_Mutation_p.A390V|RFWD2_uc001gkw.1_Missense_Mutation_p.A174V|RFWD2_uc009wwv.2_Missense_Mutation_p.A213V|RFWD2_uc001gkt.1_Missense_Mutation_p.A253V	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	414					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGATCACTAGCATATGACAA	0.353000														174			29		0	0	0.008361	0	0
AOAH	313	broad.mit.edu	37	7	36552800	36552800	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:36552800G>A	uc022abu.1	-	21	2306	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTGTGGAATGAGTTTACCCA	0.547000														72			16		0	0	0.006122	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969259	140969259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:140969259C>T	uc011mwp.2	+	3	586	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	196	MAGE 1.							p.L196I(2)|p.L195R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTTTCTTCTCCTCAAATA	0.443000														39			34		0	0	0.004289	0	0
PAN3	255967	broad.mit.edu	37	13	28748517	28748517	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:28748517A>T	uc001urz.3	+	1	691	c.539A>T	c.(538-540)tAt>tTt	p.Y180F	PAN3_uc010tdo.1_Missense_Mutation_p.Y180F|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.Y34F	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	180	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAACAAAATATCCCCTGATG	0.373000														27			5		0	0	0.001168	0	0
KIAA2026	158358	broad.mit.edu	37	9	5924688	5924688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:5924688C>T	uc003zjq.4	-	6	2872	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	KIAA2026_uc010mht.3_Missense_Mutation_p.D61N	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	886										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCAGGATATCCAGAGGTTCT	0.383000														104			21		0	0	0.003330	0	0
CD209	30835	broad.mit.edu	37	19	7809871	7809871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:7809871C>T	uc002mht.2	-	4	923	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	CD209_uc010xju.1_Missense_Mutation_p.E125K|CD209_uc010dvp.2_Missense_Mutation_p.E262K|CD209_uc002mhr.2_Missense_Mutation_p.E262K|CD209_uc002mhs.2_Missense_Mutation_p.E216K|CD209_uc002mhu.2_Missense_Mutation_p.E194K|CD209_uc010dvq.2_Missense_Mutation_p.E286K|CD209_uc002mhq.2_Missense_Mutation_p.E286K|CD209_uc002mhv.2_Missense_Mutation_p.E262K|CD209_uc002mhx.2_Missense_Mutation_p.E242K|CD209_uc002mhw.2_Missense_Mutation_p.E150K|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	286	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCCCCACTTCTTTGCAGGCG	0.587000														71			12		0	0	0.002450	0	0
LTA4H	4048	broad.mit.edu	37	12	96415987	96415987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:96415987G>A	uc001ten.1	-	4	591	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	LTA4H_uc010suy.1_Missense_Mutation_p.R137C|LTA4H_uc010suz.1_Missense_Mutation_p.R137C|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	175					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TCTCCATCACGAATAGCACTC	0.378000														25			8		0	0	0.000978	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														13			10		0	0	0.006214	0	0
OR2L2	26246	broad.mit.edu	37	1	248201713	248201713	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:248201713C>T	uc001idw.3	+	0	240	c.144C>T	c.(142-144)atC>atT	p.I48I	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTTCTCATCTTTTTGGACA	0.393000														237			55		0	0	0.003610	0	0
LSM4	25804	broad.mit.edu	37	19	18420504	18420504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18420504C>T	uc002niq.3	-	3	483	c.312G>A	c.(310-312)atG>atA	p.M104I	LSM4_uc021uqn.1_Missense_Mutation_p.M90I	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	Homo sapiens LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM4), transcript variant 1, mRNA.	104					RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing	U6 snRNP|cytosol	RNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)	6						CAGCGCCGCCCATGCCGCGGC	0.677000														52			17		0	0	0.008871	0	0
DSG3	1830	broad.mit.edu	37	18	29052340	29052340	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:29052340G>A	uc002kws.3	+	12	2100	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	664					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGCTCAGAAGGAACAATTCAT	0.458000														53			17		0	0	0.006122	0	0
KCND3	3752	broad.mit.edu	37	1	112329705	112329705	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:112329705G>T	uc001ebu.1	-	2	1610	c.1130C>A	c.(1129-1131)aCg>aAg	p.T377K	KCND3_uc001ebv.1_Missense_Mutation_p.T377K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	377						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCCTGCAATCGTCTTAGGCAC	0.527000														42			31		2.42023e-17	2.78451e-17	0.003271	1	0
C1QC	714	broad.mit.edu	37	1	22973793	22973793	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:22973793G>A	uc001bgc.4	+	2	358	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C1QC_uc001bga.4_Silent_p.G85G	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	85	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCATCCTGGGAAAAATGGCC	0.622000														27			25		0	0	0.004656	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17934436	17934436	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:17934436C>T	uc001ban.3	+	6	732	c.573C>T	c.(571-573)gtC>gtT	p.V191V	ARHGEF10L_uc009vpe.1_Silent_p.V191V|ARHGEF10L_uc001bao.3_Silent_p.V191V|ARHGEF10L_uc001bap.3_Silent_p.V191V|ARHGEF10L_uc010ocr.1_5'UTR	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	191					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGTCGAGGTCGAGCCCGCCA	0.692000														6			5		0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760578	176760578	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:176760578G>A	uc001gkz.3	+	18	6144	c.4980G>A	c.(4978-4980)ctG>ctA	p.L1660L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1660M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCAGAGCTGAATTCTGTGG	0.443000														26			21		0	0	0.001882	0	0
KEL	3792	broad.mit.edu	37	7	142658181	142658181	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142658181C>T	uc003wcb.3	-	3	444	c.234G>A	c.(232-234)gaG>gaA	p.E78E		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	78					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACACAGATGTCTCACAGGGGC	0.552000														59			9		0	0	0.004482	0	0
POT1	25913	broad.mit.edu	37	7	124469334	124469334	+	Missense_Mutation	SNP	G	A	A	rs139388603		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:124469334G>A	uc003vlm.3	-	15	2169	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Intron|POT1_uc003vlo.3_Missense_Mutation_p.S392L	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	523					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGGAATCCACGATGTTTTATC	0.308000														95			40		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141215198	141215198	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:141215198C>T	uc002tvj.1	-	60	10620	c.9648G>A	c.(9646-9648)ggG>ggA	p.G3216G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3216					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGCAATCACCCCTGGAATAT	0.423000										TSP Lung(27;0.18)				133			30		0	0	0.002096	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892272	9892272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:9892272G>A	uc003gmc.3	-	8	1238	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	SLC2A9_uc003gmd.3_Missense_Mutation_p.L364F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	393					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCAAAGAAGAGGCCCATGAGC	0.522000														28			6		0	0	0.001984	0	0
OR8K1	390157	broad.mit.edu	37	11	56114096	56114096	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56114096C>T	uc010rjg.2	+	0	582	c.582C>T	c.(580-582)ctC>ctT	p.L194L		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCCATACTCTGTTCTGACA	0.338000										HNSCC(65;0.19)				48			51		0	0	0.003610	0	0
ARMC6	93436	broad.mit.edu	37	19	19168362	19168362	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:19168362C>T	uc002nld.3	+	8	1863	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	ARMC6_uc002nlc.3_Silent_p.A452A|ARMC6_uc010xql.2_Silent_p.A384A|ARMC6_uc010xqm.2_Silent_p.A477A	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	477							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGCCAAGGCCGCCCTGCGGG	0.677000														76			18		0	0	0.006122	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:51411637G>A	uc001nhi.2	-	0	812	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000														12			19		0	0	0.008871	0	0
EXOC6	54536	broad.mit.edu	37	10	94653221	94653221	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:94653221T>A	uc010qnr.2	+	2	408	c.265T>A	c.(265-267)Ttt>Att	p.F89I	EXOC6_uc001kie.3_Missense_Mutation_p.F68I|EXOC6_uc001kif.4_Missense_Mutation_p.F73I|EXOC6_uc001kig.3_Missense_Mutation_p.F73I|EXOC6_uc009xub.3_Missense_Mutation_p.F73I|EXOC6_uc009xuc.3_Missense_Mutation_p.F73I	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	73					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TCATCAGGGTTTTGTAGATGC	0.323000														362			103		0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7710634	7710634	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7710634G>A	uc002giu.1	+	60	9623	c.9609G>A	c.(9607-9609)atG>atA	p.M3203I	DNAH2_uc010cnm.1_Missense_Mutation_p.M141I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3203	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCGGGCCATGGAGGTAAAGG	0.667000														39			33		0	0	0.002836	0	0
GABRB3	2562	broad.mit.edu	37	15	26792988	26792988	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:26792988G>A	uc001zbb.3	-	9	1645	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	GABRB3_uc021sgg.1_Silent_p.F387F|GABRB3_uc021sgh.1_Silent_p.F373F|GABRB3_uc001zaz.3_Silent_p.F458F|GABRB3_uc001zba.3_Silent_p.F458F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	458					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGAAAAAGTGAATGGAAACA	0.373000														44			13		0	0	0.001855	0	0
DSC1	1823	broad.mit.edu	37	18	28713961	28713961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:28713961G>A	uc002kwn.3	-	12	2271	c.2009C>T	c.(2008-2010)cCa>cTa	p.P670L	DSC1_uc002kwm.3_Missense_Mutation_p.P670L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	670	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACACTCAGATGGAGTTGAACA	0.363000														89			24		0	0	0.006320	0	0
SPEM1	374768	broad.mit.edu	37	17	7324662	7324662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7324662G>A	uc002ggv.3	+	2	693	c.668G>A	c.(667-669)gGg>gAg	p.G223E	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	223					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AAGAACGGTGGGGAGGGGGCG	0.642000														22			18		0	0	0.008871	0	0
KSR2	283455	broad.mit.edu	37	12	118199237	118199237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:118199237G>A	uc001two.2	-	3	533	c.478C>T	c.(478-480)Ccg>Tcg	p.P160S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.C160C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGATCCACGGGGTGGGCTCC	0.637000														51			30		0	0	0.002445	0	0
CCDC73	493860	broad.mit.edu	37	11	32635935	32635935	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:32635935C>T	uc001mtv.3	-	15	1973	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	643										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AACTATATTTCTGACATGGAA	0.308000														18			14		0	0	0.002450	0	0
MORC1	27136	broad.mit.edu	37	3	108776192	108776192	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108776192G>A	uc003dxl.3	-	12	1260	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	MORC1_uc011bhn.2_Silent_p.S391S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	391					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATACTCACAAGGACTTCAGTT	0.393000														55			20		0	0	0.002780	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449345	104449345	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:104449345G>A	uc004bbp.2	-	1	1438	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GRIN3A_uc004bbq.1_Silent_p.F279F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	279					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAAGGAGGAGGAAGTCGGTGA	0.473000														57			57		0	0	0.003610	0	0
GAN	8139	broad.mit.edu	37	16	81411074	81411074	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:81411074A>C	uc002fgo.3	+	10	1815	c.1667A>C	c.(1666-1668)cAc>cCc	p.H556P		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	556					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ACCTGGCACCACACTAAACCA	0.488000														113			36		0	0	0.004878	0	0
TAPBPL	55080	broad.mit.edu	37	12	6562851	6562851	+	Silent	SNP	A	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:6562851A>T	uc001qog.4	+	2	772	c.534A>T	c.(532-534)ccA>ccT	p.P178P	CD27-AS1_uc001qob.2_5'Flank|CD27-AS1_uc009zel.1_5'Flank|CD27-AS1_uc001qof.3_5'Flank|CD27-AS1_uc009zem.2_5'Flank|TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	178					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TGAACTTGCCACTGAGCCCCC	0.557000														23			12		0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82764399	82764399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82764399G>A	uc003uhx.2	-	2	2756	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R823*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	769	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R823L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGCAGGTCGAGGTATGGCT	0.438000														154			81		0	0	0.003610	0	0
OR5T2	219464	broad.mit.edu	37	11	56000188	56000188	+	Silent	SNP	A	G	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56000188A>G	uc010rjc.2	-	0	474	c.474T>C	c.(472-474)gcT>gcC	p.A158A		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGCGATCATAAGCCATTGCAG	0.443000														52			61		0	0	0.003610	0	0
C3orf64	285203	broad.mit.edu	37	3	69047162	69047162	+	Splice_Site	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:69047162G>T	uc003dnl.3	-	10	1236	c.831_splice	c.e10+1	p.T277_splice	C3orf64_uc003dnj.3_Splice_Site|C3orf64_uc003dnk.3_Splice_Site_p.T277_splice|C3orf64_uc011bfw.2_Intron|C3orf64_uc003dnm.1_Splice_Site	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	277						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TCTTACTTACGGTGTCCCACA	0.378000														95			5		3.59834e-05	4.04813e-05	0.001168	1	0
B4GALNT3	283358	broad.mit.edu	37	12	662611	662611	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:662611G>T	uc001qii.1	+	13	1522	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L	B4GALNT3_uc001qij.1_Missense_Mutation_p.V411L|B4GALNT3_uc001qik.1_Missense_Mutation_p.V57L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	508						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCACATTCCAGTGCAGCAGCC	0.622000														27			18		6.94344e-10	7.95573e-10	0.006122	1	0
ITGAM	3684	broad.mit.edu	37	16	31332564	31332564	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:31332564G>A	uc002ebr.3	+	14	1811	c.1713G>A	c.(1711-1713)cgG>cgA	p.R571R	ITGAM_uc002ebq.3_Silent_p.R570R|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_5'UTR|ITGAM_uc002ebs.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	570					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R570Q(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCCTCAGCGGATAGCAGGCT	0.522000														138			41		0	0	0.003610	0	0
CCDC39	339829	broad.mit.edu	37	3	180377473	180377473	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:180377473T>C	uc010hxe.3	-	4	716	c.601A>G	c.(601-603)Agc>Ggc	p.S201G	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	201					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACCTGTGCGCTTATAGTCTCT	0.323000														43			29		0	0	0.001786	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787024	121787024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:121787024C>T	uc003ksw.1	+	9	2688	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P386S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P462S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P875S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P462S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P424S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P462S|SNCAIP_uc003kta.1_Missense_Mutation_p.P460S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P522S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P768S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P344S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	828					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GATGGAGCAGCCTAGCCTTGA	0.493000														47			18		0	0	0.007413	0	0
CDH17	1015	broad.mit.edu	37	8	95186333	95186333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:95186333C>T	uc003ygh.2	-	5	705	c.580G>A	c.(580-582)Gag>Aag	p.E194K	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.E194K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	194	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACTTACCCTCTCGGGTAAGA	0.478000														97			63		0	0	0.003610	0	0
LIMA1	51474	broad.mit.edu	37	12	50642531	50642532	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:50642531_50642532CC>TT	uc001rwj.4	-	1	177_178	c.3_4GG>AA	c.(1-6)atggaa>atAAaa	p.1_2ME>IK	LIMA1_uc001rwk.4_Missense_Mutation_p.1_2ME>IK|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	1					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGATGATTCCATCTTGTCTA	0.411000														83			26		0	0	0.004672	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915610	202915610	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:202915610G>A	uc001gyq.4	-	3	654	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADIPOR1_uc010pqd.2_Silent_p.F53F|ADIPOR1_uc001gyr.4_Missense_Mutation_p.S18F|ADIPOR1_uc001gys.4_Silent_p.F129F	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	129					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TATGAATGCGGAAGATGCTCT	0.493000														84			19		0	0	0.007413	0	0
SAP130	79595	broad.mit.edu	37	2	128747140	128747140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:128747140G>A	uc010fmd.2	-	12	1988	c.1856C>T	c.(1855-1857)tCa>tTa	p.S619L	SAP130_uc002tpn.2_Missense_Mutation_p.S380L|SAP130_uc002tpp.2_Missense_Mutation_p.S619L|SAP130_uc002tpq.1_Missense_Mutation_p.S592L	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	619					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433000														67			100		0	0	0.003610	0	0
PTPRK	5796	broad.mit.edu	37	6	128294823	128294823	+	Silent	SNP	C	T	T	rs138416879		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:128294823C>T	uc003qbk.3	-	27	4483	c.4116G>A	c.(4114-4116)acG>acA	p.T1372T	PTPRK_uc010kfc.3_Silent_p.T1379T|PTPRK_uc003qbj.3_Silent_p.T1373T|PTPRK_uc011ebu.2_Silent_p.T1395T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1372	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGTGGATAATCGTCCGGCCTT	0.483000														56			45		0	0	0.003610	0	0
PITHD1	57095	broad.mit.edu	37	1	24106421	24106421	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:24106421G>A	uc001bhq.3	+	2	440	c.310G>A	c.(310-312)Gag>Aag	p.E104K	LOC100506963_uc001bhp.2_5'Flank|PITHD1_uc010oeb.2_Missense_Mutation_p.E11K	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	Homo sapiens PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 (PITHD1), mRNA.	104	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						ACACCCCTCTGAGATGAGACT	0.413000														51			44		0	0	0.003610	0	0
MCM7	4176	broad.mit.edu	37	7	99693042	99693042	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:99693042G>A	uc003usw.1	-	11	2157	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	MCM7_uc003usv.1_Silent_p.S373S|MCM7_uc003usx.1_Silent_p.S373S|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	549	Interaction with RAD17.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTTCAAACTGGGAGGGGGGCT	0.587000														24			18		0	0	0.008871	0	0
RYR1	6261	broad.mit.edu	37	19	38969090	38969090	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:38969090C>T	uc002oit.3	+	30	4600	c.4470C>T	c.(4468-4470)aaC>aaT	p.N1490N	RYR1_uc002oiu.3_Silent_p.N1490N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1490	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGTAGCAACTGCTACATGG	0.607000														26			23		0	0	0.005443	0	0
DZIP3	9666	broad.mit.edu	37	3	108363192	108363192	+	Silent	SNP	C	T	T	rs149165938		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108363192C>T	uc003dxd.3	+	13	1745	c.1323C>T	c.(1321-1323)acC>acT	p.T441T	DZIP3_uc003dxf.1_Silent_p.T441T|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.T441T|DZIP3_uc003dxg.1_Silent_p.T164T	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	441					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCTTTGGACCAATCATCCTT	0.408000														48			37		0	0	0.004878	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864234	128864234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:128864234C>T	uc003kvb.1	+	5	1174	c.1174C>T	c.(1174-1176)Cat>Tat	p.H392Y	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATTGGGCATCATGGAGAAAA	0.343000														27			13		0	0	0.003163	0	0
C5orf48	389320	broad.mit.edu	37	5	125971803	125971803	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:125971803G>A	uc003kub.1	+	2	288	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	92										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTTTGCCATGGGGAAGATCGT	0.423000														93			26		0	0	0.005443	0	0
GJB4	127534	broad.mit.edu	37	1	35227190	35227190	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:35227190A>T	uc001bxw.4	+	0	335	c.335A>T	c.(334-336)aAt>aTt	p.N112I	GJB4_uc001bxv.1_Missense_Mutation_p.N112I	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	112					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CACGGGCCCAATGCCCCGTCC	0.627000														56			19		0	0	0.007413	0	0
ABCA10	10349	broad.mit.edu	37	17	67146127	67146127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:67146127G>A	uc010dfa.1	-	37	5354	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	ABCA10_uc002jhz.3_Intron|ABCA10_uc010wqs.1_Missense_Mutation_p.A484V|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1492					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAACTTACTCGCCTCTAACTT	0.353000														35			5		0	0	0.000602	0	0
SMG9	56006	broad.mit.edu	37	19	44242349	44242349	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:44242349G>A	uc002oxj.2	-	7	1177	c.834C>T	c.(832-834)atC>atT	p.I278I	SMG9_uc002oxk.2_Silent_p.I278I|SMG9_uc010eiy.1_Silent_p.I278I	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	278					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GATGGTCTAGGATAGAAGGGC	0.507000														67			29		0	0	0.007291	0	0
FNDC4	64838	broad.mit.edu	37	2	27715590	27715590	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:27715590C>T	uc002rkx.3	-	5	1018	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	204						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCCCTTCTCCTTGGGATTGT	0.542000														65			43		0	0	0.002852	0	0
DNAJC13	23317	broad.mit.edu	37	3	132247127	132247127	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:132247127T>C	uc003eor.3	+	53	6541	c.6476T>C	c.(6475-6477)aTt>aCt	p.I2159T		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	2159							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGGCTCAGATTGTTAAAGCT	0.453000														49			34		0	0	0.002836	0	0
KRT2	3849	broad.mit.edu	37	12	53042059	53042059	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53042059G>A	uc001sat.3	-	4	1053	c.1020C>T	c.(1018-1020)agC>agT	p.S340S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	340	Linker 12.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCAGGTTGCGGCTGTTGTCCA	0.547000														117			33		0	0	0.002836	0	0
RECK	8434	broad.mit.edu	37	9	36105242	36105242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:36105242C>T	uc003zyv.3	+	12	1624	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L	RECK_uc003zyw.3_Missense_Mutation_p.P385L|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	513						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAAGGATGTCCATCTGGAGAT	0.448000														55			37		0	0	0.008740	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063206	17063206	+	Silent	SNP	C	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:17063206C>A	uc003wxe.3	+	6	916	c.519C>A	c.(517-519)ctC>ctA	p.L173L		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	173						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGTTCTTTCTCCTTTTCTTGG	0.328000														65			41		2.19358e-23	2.5342e-23	0.005524	1	0
FRZB	2487	broad.mit.edu	37	2	183707234	183707234	+	Silent	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:183707234C>T	uc002upa.2	-	2	782	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	188	NTR.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAAATAGGTCTTCTGTGTAG	0.358000														71			34		0	0	0.003271	0	0
CHST8	64377	broad.mit.edu	37	19	34263781	34263781	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:34263781G>A	uc002nus.4	+	4	1593	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHST8_uc002nut.4_Missense_Mutation_p.R363H|CHST8_uc002nuu.3_Missense_Mutation_p.R363H	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	363					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCCTCATCCGCGCGCCGCGG	0.632000														35			10		0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	95791914	95791914	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:95791914C>T	uc001kjk.3	+	1	1745	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	PLCE1_uc010qnx.2_Missense_Mutation_p.P371S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	371					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAAATGGTCCCTTACTGCC	0.488000														30			10		0	0	0.008291	0	0
MMP13	4322	broad.mit.edu	37	11	102826002	102826002	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:102826002G>T	uc001phl.3	-	1	370	c.341C>A	c.(340-342)tCc>tAc	p.S114Y		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	114					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATTCATTTTGGACCATTTAAG	0.358000														50			19		2.94398e-08	3.35254e-08	0.007413	1	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	A	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:17496474G>A	uc001mnc.3	-	1	375	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_uc010rcy.1_Silent_p.F83F|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000														270			257		0	0	0.003610	0	0
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	-	-	rs8469	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:74687550delT	uc002slj.2	+	3	755	c.552delT	c.(550-552)cctfs	p.P184fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	184							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612													---	170	---	---	7	---					
ARMC8	25852	broad.mit.edu	37	3	137964016	137964016	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:137964016delC	uc003esa.1	+	12	1450	c.1083delC	c.(1081-1083)atcfs	p.I361fs	ARMC8_uc003erw.3_Frame_Shift_Del_p.I361fs|ARMC8_uc003erx.3_Frame_Shift_Del_p.I361fs|ARMC8_uc003ery.3_Frame_Shift_Del_p.I333fs|ARMC8_uc011bmf.1_Frame_Shift_Del_p.I344fs|ARMC8_uc011bmg.1_Frame_Shift_Del_p.I308fs|ARMC8_uc011bmh.1_Frame_Shift_Del_p.I302fs|ARMC8_uc003esb.1_Frame_Shift_Del_p.I333fs|ARMC8_uc003esc.1_Frame_Shift_Del_p.I133fs	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	375							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATGAAGACATCCGGAAGAAGG	0.517													---	394	---	---	169	---					
UPF2	26019	broad.mit.edu	37	10	11990430	11990432	+	In_Frame_Del	DEL	CTT	-	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:11990430_11990432delCTT	uc001ila.3	-	14	3584_3586	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_uc001ilb.3_In_Frame_Del_p.E1037del|UPF2_uc001ilc.3_In_Frame_Del_p.E1037del	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				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)				tcagccccaccttcttcttcttc	0.374													---	604	---	---	10	---					
CDKL1	8814	broad.mit.edu	37	14	50824772	50824772	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:50824772delG	uc010anu.2	-	14	2196	c.2196delC	c.(2194-2196)cccfs	p.P732fs	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACTTCAGGAAGGGACCCCCTC	0.532													---	25	---	---	7	---					
ZNF155	7711	broad.mit.edu	37	19	44500692	44500711	+	Frame_Shift_Del	DEL	GAGAGAAACCATTCAAATGT	-	-	rs143866640	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:44500692_44500711delGAGAGAAACCATTCAAATGT	uc010xwt.1	+	5	900_919	c.716_735delGAGAGAAACCATTCAAATGT	c.(715-735)ggagagaaaccattcaaatgtfs	p.G239fs	ZNF155_uc002oxy.1_Frame_Shift_Del_p.G228fs|ZNF155_uc002oxz.1_Frame_Shift_Del_p.G228fs	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	228						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F241L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GTCCACACTGGAGAGAAACCATTCAAATGTGAGCAATGTG	0.436													---	98	---	---	26	---					
ERAS	3266	broad.mit.edu	37	X	48688189	48688189	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:48688189delC	uc004dky.1	+	0	907	c.656delC	c.(655-657)accfs	p.T219fs		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	Homo sapiens ES cell expressed Ras (ERAS), mRNA.	219					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						AGGGAGAAGACCCGGCACCAG	0.592													---	4	---	---	2	---					
