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
PROKR2	128674	broad.mit.edu	37	20	5282949	5282949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:5282949G>A	uc010zqw.2	-	1	900	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	PROKR2_uc010zqx.2_Missense_Mutation_p.R298C|PROKR2_uc010zqy.2_Missense_Mutation_p.R298C	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R298C(4)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGAAGTCACGAACGATGGTG	0.562000										HNSCC(71;0.22)				30			9		0	0	0.006214	0	0
NBEAL1	65065	broad.mit.edu	37	2	204003378	204003378	+	Silent	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:204003378G>T	uc002uzt.3	+	29	5001	c.4668G>T	c.(4666-4668)ctG>ctT	p.L1556L	NBEAL1_uc021vvj.1_Silent_p.L259L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1556							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGACTGTCTGTCAGTCTGCT	0.353000														289			74		3.30373e-36	3.49859e-36	0.014410	1	0
ABCG5	64240	broad.mit.edu	37	2	44053607	44053607	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:44053607G>A	uc002rtn.3	-	5	828	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Intron|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	230	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGACAATCTGATTAGCAGTC	0.532000														112			36		0	0	0.006999	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:19748188G>A	uc009zzj.3	-	4	1273	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647000														54			10		0	0	0.008291	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691861	8691861	+	Nonsense_Mutation	SNP	G	A	A	rs143517337	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:8691861G>A	uc001quo.1	-	2	337	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	58						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCAGGTAGCTGAAACTTTTTC	0.363000														89			19		0	0	0.012319	0	0
KIAA0146	23514	broad.mit.edu	37	8	48625418	48625418	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:48625418C>T	uc003xqd.3	+	14	2234	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	KIAA0146_uc011ldb.2_Silent_p.D724D|KIAA0146_uc010lxs.3_Silent_p.D199D|KIAA0146_uc011ldc.2_Silent_p.D654D|KIAA0146_uc011ldd.2_Silent_p.D664D|KIAA0146_uc003xqe.3_Silent_p.D199D|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.D413D|KIAA0146_uc010lxt.3_Silent_p.D413D|KIAA0146_uc011ldf.2_Silent_p.D229D|KIAA0146_uc011ldg.2_Silent_p.D214D|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	724										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TCTTCAAGGACGCTCTCCGTG	0.602000														62			23		0	0	0.014323	0	0
ROBO2	6092	broad.mit.edu	37	3	77645877	77645877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:77645877G>A	uc011bgk.2	+	19	3485	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	ROBO2_uc021xat.1_Missense_Mutation_p.E960K|ROBO2_uc003dpy.4_Missense_Mutation_p.E944K|ROBO2_uc003dpz.3_Missense_Mutation_p.E948K|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.E71K	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	944					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGCCCAAATGAGATTGGAAA	0.408000														52			16		0	0	0.007413	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:56757090G>A	uc010rjp.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000														47			16		0	0	0.004007	0	0
YY1	7528	broad.mit.edu	37	14	100728746	100728746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:100728746C>T	uc001ygy.1	+	1	1265	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	262	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AAACTTCCTCCTGGAGGAATA	0.378000														53			9		0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11520890	11520890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11520890G>A	uc002gne.3	+	4	1135	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	356	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTCCCCGGGAAGGCTGACT	0.617000														49			7		0	0	0.004482	0	0
KIF3C	3797	broad.mit.edu	37	2	26174711	26174711	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:26174711G>A	uc002rgu.2	-	4	2610	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.F651F	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	651	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGTCCAGGAAAAGCCGGT	0.562000														43			5		0	0	0.000602	0	0
EFR3A	23167	broad.mit.edu	37	8	133023050	133023050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:133023050C>T	uc003yte.3	+	22	2578	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	792						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCTCCCAGTCCATCAGGAAC	0.433000														19			6		0	0	0.001168	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139838938	139838938	+	Missense_Mutation	SNP	C	T	T	rs141407377		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:139838938C>T	uc003lfs.2	+	8	1824	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S557F|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S557F|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.S18F|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.S18F|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.S557F|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.S546F|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.S557F	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	557						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTGGCTTCTGGTATGTGG	0.403000														52			6		0	0	0.004482	0	0
WIPF1	7456	broad.mit.edu	37	2	175436728	175436728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:175436728G>A	uc002uiz.3	-	4	905	c.805C>T	c.(805-807)Cct>Tct	p.P269S	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P269S|WIPF1_uc010fqt.1_Missense_Mutation_p.P269S|WIPF1_uc002ujc.1_Missense_Mutation_p.P269S|WIPF1_uc002ujb.2_Missense_Mutation_p.P269S|WIPF1_uc010zep.1_Missense_Mutation_p.P269S	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	269	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCCACTGGAGGAGGTGGTGGA	0.662000														15			4		0	0	0.000602	0	0
TUT1	64852	broad.mit.edu	37	11	62349026	62349026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:62349026C>T	uc001nto.2	-	2	573	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	141					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCGCTCCTTTGGGGGAT	0.627000														27			9		0	0	0.006214	0	0
NOS3	4846	broad.mit.edu	37	7	150697609	150697609	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:150697609G>A	uc003wif.3	+	9	1451	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NOS3_uc011kuy.2_Silent_p.L179L|NOS3_uc011kva.2_Silent_p.L385L|NOS3_uc011kuz.2_Silent_p.L385L|NOS3_uc011kvb.2_Silent_p.L385L	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	385	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCATGGACCTGGATACCCGGA	0.602000														28			4		0	0	0.000602	0	0
HIBADH	11112	broad.mit.edu	37	7	27669065	27669065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:27669065G>A	uc003szf.3	-	3	622	c.409C>T	c.(409-411)Cct>Tct	p.P137S	HIBADH_uc003szg.3_Missense_Mutation_p.P88S|HIBADH_uc003szi.3_Missense_Mutation_p.P88S	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	137					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GAAACTGCAGGATCAATAGTG	0.333000														200			53		0	0	0.014410	0	0
CUL9	23113	broad.mit.edu	37	6	43155488	43155488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:43155488C>T	uc003ouk.3	+	6	1694	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	CUL9_uc003ouj.1_Missense_Mutation_p.S430F|CUL9_uc003oul.3_Missense_Mutation_p.S540F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	540					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						ATCTCTGTGTCCGTGGAAATG	0.507000														86			39		0	0	0.014410	0	0
RLIM	51132	broad.mit.edu	37	X	73812495	73812495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:73812495G>A	uc004ebu.3	-	4	945	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	RLIM_uc004ebw.3_Missense_Mutation_p.R219W	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	219					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGTTCTCCGATGGTCTGGG	0.478000														83			32		0	0	0.003755	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151821286G>A	uc004ffp.1	+	8	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	p.E481K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547000														128			6		0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11696952	11696952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11696952C>T	uc002gne.3	+	41	8262	c.8194C>T	c.(8194-8196)Cag>Tag	p.Q2732*	DNAH9_uc010coo.3_Nonsense_Mutation_p.Q2026*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATAAAATCCAGACAGAAGT	0.328000														42			4		0	0	0.000602	0	0
ZNF676	163223	broad.mit.edu	37	19	22364330	22364330	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:22364330G>A	uc002nqs.1	-	2	507	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S62Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCATTTTTTGGAAAGAATCTT	0.308000														19			4		0	0	0.009096	0	0
RHOXF2	84528	broad.mit.edu	37	X	119211062	119211062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:119211062C>T	uc004esj.4	-	1	461	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	AK123976_uc004esi.1_Intron	NM_032498	NP_001093155	Q9BQY4	RHXF2_HUMAN	Homo sapiens Rhox homeobox family, member 2 (RHOXF2), mRNA.	91						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E91K(1)|p.W90*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AGGTTTCCTTCCCATAGGTGG	0.607000														46			11		0	0	0.010729	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956649	102956649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:102956649G>A	uc002tbu.1	+	3	635	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_uc010ywa.2_Missense_Mutation_p.V5I|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.V122I	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	122	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343000														20			5		0	0	0.000602	0	0
AKR7A3	22977	broad.mit.edu	37	1	19612407	19612407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:19612407C>T	uc001bbv.1	-	2	559	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	161					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGATCCAGCCGTTGCTCTT	0.602000														22			12		0	0	0.004990	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041442	86041442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:86041442C>T	uc003ycw.3	+	9	1662	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.S392F|LRRCC1_uc010maa.2_Missense_Mutation_p.S186F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S465F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	485					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAGAGAAATTCCAAAGGACAA	0.294000														93			17		0	0	0.004990	0	0
CASP10	843	broad.mit.edu	37	2	202074178	202074178	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:202074178C>T	uc002uxj.1	+	8	1726	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.F369F|CASP10_uc002uxk.1_Silent_p.F393F|CASP10_uc002uxl.2_Silent_p.F436F|CASP10_uc002uxm.2_Silent_p.F393F	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	436					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AGGCTGACTTCCTACTTGGTC	0.517000														66			19		0	0	0.012319	0	0
GPR20	2843	broad.mit.edu	37	8	142367729	142367729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:142367729C>T	uc022bby.1	-	0	295	c.295G>A	c.(295-297)Gat>Aat	p.D99N	GPR20_uc003ywf.3_Missense_Mutation_p.D99N	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	99						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACCAGTAGATCGGTCACCACC	0.647000														27			6		0	0	0.001168	0	0
TRIM3	10612	broad.mit.edu	37	11	6478024	6478024	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:6478024T>C	uc001mdh.3	-	6	1328	c.932A>G	c.(931-933)aAt>aGt	p.N311S	TRIM3_uc001mdi.3_Missense_Mutation_p.N311S|TRIM3_uc010raj.2_Missense_Mutation_p.N192S|TRIM3_uc009yfd.3_Missense_Mutation_p.N311S|TRIM3_uc010rak.1_Missense_Mutation_p.N311S|TRIM3_uc001mdj.2_Missense_Mutation_p.N192S	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	311					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGCCCAGATTGAGCACCGA	0.667000														80			4		0	0	0.009096	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:55638912C>T	uc003pcq.3	-	3	1674	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_uc011dxf.2_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(2)|p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000														64			14		0	0	0.003163	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:100263983G>A	uc021xqi.1	-	5		c.882C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														182			44		0	0	0.014410	0	0
GLIS1	148979	broad.mit.edu	37	1	53980367	53980367	+	Missense_Mutation	SNP	G	C	C	rs142735388	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:53980367G>C	uc001cvr.1	-	6	1856	c.1289C>G	c.(1288-1290)cCg>cGg	p.P430R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	430					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCATCCAGCGGGTGGTGCCT	0.637000														44			7		0	0	0.003080	0	0
PRKD2	25865	broad.mit.edu	37	19	47192806	47192806	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:47192806G>A	uc002pfh.3	-	14	2301	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	PRKD2_uc010eks.3_Silent_p.F56F|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Silent_p.F496F|PRKD2_uc002pfi.3_Silent_p.F653F|PRKD2_uc002pfj.3_Silent_p.F653F|PRKD2_uc010xye.2_Silent_p.F653F|PRKD2_uc002pfk.3_Silent_p.F496F	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	653	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGGTGATGAGGAACTTGGTGA	0.607000														12			5		0	0	0.000602	0	0
SGSM1	129049	broad.mit.edu	37	22	25294253	25294253	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:25294253G>A	uc003abg.2	+	19	2659	c.2502G>A	c.(2500-2502)caG>caA	p.Q834Q	SGSM1_uc010guu.1_Silent_p.Q779Q|SGSM1_uc003abh.2_Silent_p.Q773Q|SGSM1_uc003abj.2_Silent_p.Q718Q|SGSM1_uc003abi.1_Silent_p.Q754Q	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	834	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGCCGTGCAGGACAGCCTGG	0.632000														19			8		0	0	0.004482	0	0
C17orf76-AS1	125144	broad.mit.edu	37	17	16342588	16342588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:16342588G>A	uc021tqz.1	+	0	288	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	C17orf76-AS1_uc021tqt.1_Missense_Mutation_p.G45R|C17orf76-AS1_uc021tqu.1_Intron|C17orf76-AS1_uc010vwf.2_Intron|C17orf76-AS1_uc021tqv.1_Intron|C17orf76-AS1_uc021tqw.1_Intron|C17orf76-AS1_uc002gqb.4_Intron|C17orf76-AS1_uc010vwk.2_Intron|C17orf76-AS1_uc010vwh.2_Intron|C17orf76-AS1_uc021tqx.1_Intron|C17orf76-AS1_uc010vwi.2_Intron|C17orf76-AS1_uc010cpd.3_Intron|C17orf76-AS1_uc021tqy.1_Intron|C17orf76-AS1_uc002gqc.3_Missense_Mutation_p.G45R|C17orf76-AS1_uc010vwg.2_Intron|C17orf76-AS1_uc010vwj.2_Intron|C17orf76-AS1_uc002gqa.4_Intron|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|SNORD49B_uc010cpf.3_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank					Homo sapiens C17orf76 antisense RNA 1 (non-protein coding) (C17orf76-AS1), transcript variant 31, non-coding RNA.																		GGGCAGCGCGGGGCCGAATCC	0.697000														50			11		0	0	0.001855	0	0
PPP6C	5537	broad.mit.edu	37	9	127915952	127915952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:127915952G>A	uc010mwv.3	-	6	861	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PPP6C_uc004bpg.4_Nonsense_Mutation_p.R177*|PPP6C_uc010mww.3_Nonsense_Mutation_p.R155*|PPP6C_uc011lzr.2_Nonsense_Mutation_p.R30*	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	177					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCGATGGTTCGAATTTGATCC	0.408000														14			5		0	0	0.001984	0	0
CP	1356	broad.mit.edu	37	3	148925395	148925395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:148925395C>T	uc003ewy.4	-	4	1044	c.791G>A	c.(790-792)gGa>gAa	p.G264E	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G45E|CP_uc003ewz.3_Missense_Mutation_p.G264E|CP_uc010hvf.1_5'UTR	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	264	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAAAGTGTATCCATTCACAGC	0.398000														39			7		0	0	0.006214	0	0
UNC13D	201294	broad.mit.edu	37	17	73836339	73836339	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:73836339C>A	uc002jpp.3	-	9	1205	c.825G>T	c.(823-825)caG>caT	p.Q275H	UNC13D_uc010wsk.1_Missense_Mutation_p.Q275H|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.Q72H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	275	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGGTGGCACTGGCCTCGGT	0.672000									Familial Hemophagocytic Lymphohistiocytosis					23			10		2.17888e-05	2.25894e-05	0.006214	1	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:43157211G>A	uc003xpz.1	+	4	834	c.791G>A	c.(790-792)gGa>gAa	p.G264E	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	264										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000														36			12		0	0	0.010729	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				89			23		1.9806e-07	2.06967e-07	0.014323	1	0
SYBU	55638	broad.mit.edu	37	8	110587741	110587741	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110587741G>A	uc010mcp.3	-	7	1748	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	SYBU_uc003yni.4_Silent_p.T459T|SYBU_uc003ynk.4_Silent_p.T343T|SYBU_uc003ynj.4_Silent_p.T462T|SYBU_uc010mco.3_Silent_p.T461T|SYBU_uc003ynl.4_Silent_p.T461T|SYBU_uc010mcq.3_Silent_p.T462T|SYBU_uc003yno.4_Silent_p.T343T|SYBU_uc010mcr.3_Silent_p.T462T|SYBU_uc003ynm.4_Silent_p.T461T|SYBU_uc003ynn.4_Silent_p.T461T|SYBU_uc010mcs.3_Silent_p.T343T|SYBU_uc010mct.3_Silent_p.T462T|SYBU_uc010mcu.3_Silent_p.T461T|SYBU_uc003ynp.4_Silent_p.T394T|SYBU_uc010mcv.3_Silent_p.T462T|SYBU_uc003ynh.4_Silent_p.T256T|SYBU_uc011lhw.2_Silent_p.T332T	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	462						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAGCCCCAGGGGTGGAATGCA	0.567000														40			4		0	0	0.009096	0	0
ATP12A	479	broad.mit.edu	37	13	25281469	25281469	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:25281469G>A	uc010aaa.3	+	16	2742	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	ATP12A_uc001upp.3_Silent_p.K797K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	797					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCTGACCAAGAACATTGCCG	0.502000														85			22		0	0	0.002780	0	0
ZNF514	84874	broad.mit.edu	37	2	95815990	95815990	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:95815990G>A	uc002sud.1	-	4	830	c.459C>T	c.(457-459)tcC>tcT	p.S153S	ZNF514_uc002sue.1_Silent_p.S80S	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTGATTCCTTGGATTTAGACC	0.353000														59			37		0	0	0.004289	0	0
NTRK3	4916	broad.mit.edu	37	15	88423566	88423566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:88423566C>T	uc002bme.2	-	18	2575	c.2269G>A	c.(2269-2271)Ggg>Agg	p.G757R	NTRK3_uc002bmh.2_Missense_Mutation_p.G735R|NTRK3_uc002bmf.2_Missense_Mutation_p.G743R|NTRK3_uc021sua.1_Missense_Mutation_p.G735R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	757	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGATCACCCCGAAGCTCCAT	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				52			13		0	0	0.013537	0	0
THEG	51298	broad.mit.edu	37	19	371237	371237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:371237G>A	uc002lol.3	-	5	764	c.721C>T	c.(721-723)Cgt>Tgt	p.R241C	THEG_uc002lom.3_Missense_Mutation_p.R217C	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	241					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AAGTTATCACGAATCTTCGGG	0.657000														106			25		0	0	0.005443	0	0
ATP7B	540	broad.mit.edu	37	13	52531657	52531657	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:52531657G>A	uc001vfw.2	-	8	2599	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	ATP7B_uc001vfy.2_Silent_p.I703I|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.I652I|ATP7B_uc010tgt.1_Silent_p.I814I|ATP7B_uc010tgu.1_Silent_p.I766I|ATP7B_uc010tgv.1_Silent_p.I736I|ATP7B_uc001vfv.2_Silent_p.I86I|ATP7B_uc010tgs.1_Silent_p.I86I	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	814					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCACCTGATGATTAAATTGT	0.438000									Wilson disease					44			18		0	0	0.008871	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192239	125192239	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:125192239G>A	uc010flu.3	+	4	1072	c.708G>A	c.(706-708)ggG>ggA	p.G236G	CNTNAP5_uc002tno.3_Silent_p.G236G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	236	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)		TCCAGAAGGGGAGGCTCGCCC	0.532000														13			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179641297	179641297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:179641297C>T	uc021vsy.1	-	27	5519	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D	TTN_uc021vsz.1_Missense_Mutation_p.G1719D|TTN_uc021vta.1_Missense_Mutation_p.G1719D|TTN_uc021vtb.1_Missense_Mutation_p.G1719D|TTN_uc002unb.2_Missense_Mutation_p.G1765D|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1765	Ig-like 8.						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)			ATATGCAACGCCATAATCAAG	0.443000														25			10		0	0	0.008291	0	0
RET	5979	broad.mit.edu	37	10	43609123	43609123	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:43609123G>A	uc001jal.3	+	10	2069	c.1879_splice	c.e10+1	p.D627_splice	RET_uc001jak.1_Splice_Site_p.D627_splice|RET_uc010qez.1_Splice_Site_p.D373_splice	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	627					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGACATCCAGGGTGAGTGGGT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					11			7		0	0	0.001984	0	0
CD33	945	broad.mit.edu	37	19	51742850	51742850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:51742850G>A	uc002pwa.2	+	6	1042	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.M207I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	334					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTGTGGAGATGGATGAGGAGC	0.522000														45			12		0	0	0.013537	0	0
PLG	5340	broad.mit.edu	37	6	161152095	161152095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:161152095G>A	uc003qtm.4	+	10	1381	c.1269G>A	c.(1267-1269)atG>atA	p.M423I		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	423	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.T422S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCTGACAATGAACTACTGCA	0.483000														34			11		0	0	0.013537	0	0
CBX6	23466	broad.mit.edu	37	22	39262274	39262274	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:39262274C>T	uc003awl.3	-	4	1242	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	393					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CAGCAGCCACCTTCTCGAAAT	0.637000														21			4		0	0	0.000602	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717912	142717912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:142717912G>A	uc022cfm.1	-	0	1013	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L	SLITRK4_uc022cfl.1_Missense_Mutation_p.P338L|SLITRK4_uc004fbx.3_Missense_Mutation_p.P338L|SLITRK4_uc004fby.3_Missense_Mutation_p.P338L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	338	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGTTAGAGGAGGCACCCT	0.458000														55			19		0	0	0.007413	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:141673292G>A	uc003vwx.1	-	0	282	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000														56			21		0	0	0.008871	0	0
RBBP6	5930	broad.mit.edu	37	16	24580295	24580295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:24580295C>T	uc002dmh.3	+	16	3324	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	RBBP6_uc010vcb.1_Missense_Mutation_p.P629S|RBBP6_uc002dmi.3_Missense_Mutation_p.P728S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P595S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	762					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGGTCACCCCCTTACAGACG	0.483000														27			4		0	0	0.009096	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:43381975C>T	uc003cms.4	+	4	1260	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_uc003cmt.4_Nonsense_Mutation_p.R310*|SNRK_uc010hik.3_Nonsense_Mutation_p.R310*|SNRK_uc011azr.2_Nonsense_Mutation_p.R104*	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000														18			5		0	0	0.001168	0	0
ZNF334	55713	broad.mit.edu	37	20	45130982	45130982	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:45130982C>T	uc002xsa.3	-	3	1527	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R	ZNF334_uc002xsb.3_Silent_p.R294R|ZNF334_uc002xsd.3_Silent_p.R294R|ZNF334_uc002xsc.3_Silent_p.R332R|ZNF334_uc010ghl.3_Silent_p.R331R			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGCTGACTTCCGAAAAAAGG	0.433000														49			13		0	0	0.013537	0	0
EYA4	2070	broad.mit.edu	37	6	133703567	133703567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:133703567C>T	uc011ecs.2	+	2	387	c.71C>T	c.(70-72)tCt>tTt	p.S24F	EYA4_uc011ecq.2_Missense_Mutation_p.S24F|EYA4_uc011ecr.2_Missense_Mutation_p.S24F|EYA4_uc003qec.4_Missense_Mutation_p.S24F|EYA4_uc003qed.4_Missense_Mutation_p.S24F|EYA4_uc003qee.4_Missense_Mutation_p.S24F	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	24					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTTCACAATCTCAGAATTCC	0.378000														93			31		0	0	0.003271	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448105	158448105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:158448105G>A	uc011kwe.1	-	19	2576	c.2431C>T	c.(2431-2433)Cgt>Tgt	p.R811C	NCAPG2_uc010lqu.1_Missense_Mutation_p.R603C|NCAPG2_uc003wnx.1_Missense_Mutation_p.R811C|NCAPG2_uc003wnv.1_Missense_Mutation_p.R811C|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.R312C|NCAPG2_uc011kwd.1_Missense_Mutation_p.R254C	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	811					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTGAAGCCACGAGGCTTCCCA	0.577000														83			27		0	0	0.004656	0	0
CXCR2	3579	broad.mit.edu	37	2	219000042	219000042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219000042C>T	uc002vgz.2	+	3	728	c.518C>T	c.(517-519)tCc>tTc	p.S173F	CXCR2_uc002vha.2_Missense_Mutation_p.S173F|CXCR2_uc002vhb.2_Missense_Mutation_p.S173F|CXCR2_uc021vwp.1_Missense_Mutation_p.S173F	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	173					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGGGTCTGTCCTTGCTCCTG	0.522000														30			6		0	0	0.003080	0	0
TEX33	339669	broad.mit.edu	37	22	37398065	37398065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:37398065G>A	uc003aqf.3	-	2	448	c.302C>T	c.(301-303)tCc>tTc	p.S101F	TEX33_uc003aqe.3_Missense_Mutation_p.S16F	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	101																	CTCTCTCGAGGAGGATCGAGA	0.652000														10			3		0	0	0.004672	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:97326937G>A	uc002bue.3	+	0	259	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000														41			7		0	0	0.001984	0	0
APOBR	55911	broad.mit.edu	37	16	28507134	28507134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28507134G>A	uc002dqb.2	+	1	805	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Intron	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	258	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAAGGCCTGTGAAAGCACTAG	0.637000														7			4		0	0	0.000602	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747343	62747343	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:62747343A>C	uc001nwk.3	-	6	1448	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	SLC22A6_uc001nwl.3_Missense_Mutation_p.V372G|SLC22A6_uc001nwj.3_Missense_Mutation_p.V372G|SLC22A6_uc001nwm.3_Missense_Mutation_p.V372G	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	372					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCAAAGATCACCTGGATTAG	0.562000														36			7		0	0	0.001984	0	0
MUC3A	4584	broad.mit.edu	37	7	100552193	100552193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100552193C>T	uc003uxl.1	+	0	1444	c.644C>T	c.(643-645)tCc>tTc	p.S215F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTATATTTCCCTTCCCTCC	0.488000														214			15		0	0	0.003163	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855988	12855988	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:12855988T>C	uc001auj.2	+	3	1371	c.1268T>C	c.(1267-1269)gTt>gCt	p.V423A		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	423										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)		AATTCCTTGGTTCGTGTCAAT	0.562000														155			14		0	0	0.007413	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967437	133967437	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:133967437G>A	uc001lkx.4	+	17	2157	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	JAKMIP3_uc009yba.1_Silent_p.K156K	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTAAGCAGAAGGGCTACCTGG	0.627000														31			5		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	62039337	62039337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:62039337C>T	uc001jky.3	-	1	513	c.175G>A	c.(175-177)Gac>Aac	p.D59N	ANK3_uc010qih.2_Missense_Mutation_p.D42N|ANK3_uc001jkz.4_Missense_Mutation_p.D53N|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	59					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTATGTAGTCGAGGGCCTTT	0.343000														66			25		0	0	0.005443	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185375161	185375161	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:185375161G>A	uc003fpo.3	-	11	1378	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	IGF2BP2_uc010hyi.3_Silent_p.F376F|IGF2BP2_uc010hyj.3_Silent_p.F370F|IGF2BP2_uc010hyk.3_Silent_p.F297F|IGF2BP2_uc010hyl.3_Silent_p.F327F|IGF2BP2_uc003fpp.3_Silent_p.F390F|IGF2BP2_uc003fpq.3_Silent_p.F438F	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	433	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGGTTGGGATGAAGAGATTCA	0.557000														164			33		0	0	0.013726	0	0
GPR158	57512	broad.mit.edu	37	10	25878032	25878032	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:25878032T>C	uc001isj.3	+	7	1910	c.1850T>C	c.(1849-1851)gTt>gCt	p.V617A		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	617						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTGTTGCAGTTCACAATGAG	0.413000														22			5		0	0	0.001168	0	0
ZFR	51663	broad.mit.edu	37	5	32407028	32407028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:32407028C>T	uc003jhr.1	-	5	963	c.883G>A	c.(883-885)Gct>Act	p.A295T	ZFR_uc010iun.1_Missense_Mutation_p.A295T	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	295	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		gcagcagcagcagctgctgct	0.488000														13			6		0	0	0.001168	0	0
MKI67	4288	broad.mit.edu	37	10	129903322	129903322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:129903322G>A	uc001lke.3	-	12	6977	c.6782C>T	c.(6781-6783)tCa>tTa	p.S2261L	MKI67_uc001lkf.3_Missense_Mutation_p.S1901L|MKI67_uc009yav.1_Missense_Mutation_p.S1836L|MKI67_uc009yaw.1_Missense_Mutation_p.S1411L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2261	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCCTACTGATGGTGTTCG	0.488000														106			32		0	0	0.008361	0	0
ZNF423	23090	broad.mit.edu	37	16	49671240	49671240	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:49671240G>T	uc002efs.3	-	4	2121	c.1823C>A	c.(1822-1824)tCc>tAc	p.S608Y	ZNF423_uc010vgn.2_Missense_Mutation_p.S491Y	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	608					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S607*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCACATCGGACGAGACTGG	0.562000														47			7		3.09899e-07	3.22556e-07	0.004482	1	0
SLC15A4	121260	broad.mit.edu	37	12	129278778	129278778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:129278778G>A	uc001uhu.2	-	7	1750	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	SLC15A4_uc001uhv.2_Non-coding_Transcript	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	566					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.R565Q(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ATTGGCTCTTGATCGCTGATG	0.498000														71			9		0	0	0.004482	0	0
OR51F2	119694	broad.mit.edu	37	11	4843347	4843347	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4843347C>T	uc010qyn.2	+	0	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGCTTCCTCAGAAGAGA	0.498000														40			8		0	0	0.003080	0	0
EPO	2056	broad.mit.edu	37	7	100320292	100320292	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100320292G>A	uc003uwi.3	+	3	433	c.252G>A	c.(250-252)ggG>ggA	p.G84G	EPO_uc011kkc.1_Silent_p.G84G	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	84					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			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)	TGTAGGTCGGGCAGCAGGCCG	0.657000														19			6		0	0	0.001168	0	0
OR4D1	26689	broad.mit.edu	37	17	56232787	56232787	+	Silent	SNP	G	A	A	rs17222013		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:56232787G>A	uc010wno.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACCAAGACGATCTCCTACC	0.498000														63			21		0	0	0.006320	0	0
TRHR	7201	broad.mit.edu	37	8	110131324	110131324	+	Nonsense_Mutation	SNP	G	A	A	rs143656279		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110131324G>A	uc003ymz.4	+	1	926	c.837G>A	c.(835-837)tgG>tgA	p.W279*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	279						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.W279*(2)|p.W279L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCTTTTATGGATGCCCTACA	0.388000														133			58		0	0	0.014410	0	0
ITGB8	3696	broad.mit.edu	37	7	20421376	20421377	+	Nonsense_Mutation	DNP	TA	CT	CT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:20421376_20421377TA>CT	uc003suu.3	+	5	1533_1534	c.828_829TA>CT	c.(826-831)gctaaa>gcCTaa	p.K277*	ITGB8_uc011jyh.2_Nonsense_Mutation_p.K142*|ITGB8_uc003sut.3_Nonsense_Mutation_p.K277*	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	277	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GAAAAGAGGCTAAAAGATTGCT	0.401000														26			14		0	0	0.004672	0	0
PEMT	10400	broad.mit.edu	37	17	17425608	17425608	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:17425608G>A	uc002grl.3	-	2	360	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PEMT_uc002grj.3_Silent_p.F65F|PEMT_uc002grk.3_Silent_p.F65F|PEMT_uc010vwx.2_Silent_p.F102F	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GCGAGCGCAGGAAGTTCAGGA	0.622000														21			4		0	0	0.009096	0	0
SCN11A	11280	broad.mit.edu	37	3	38938508	38938508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:38938508G>A	uc021wvy.1	-	13	2430	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	744					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCGTAAACATGAGACTGTCGG	0.483000														34			10		0	0	0.008291	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705057	77705057	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:77705057C>T	uc001xtf.2	+	9	884	c.672C>T	c.(670-672)atC>atT	p.I224I	TMEM63C_uc010asq.1_Silent_p.I224I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	224						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACTAATGATCACCTATGTGC	0.463000														33			10		0	0	0.013537	0	0
PIGK	10026	broad.mit.edu	37	1	77632478	77632478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:77632478C>T	uc001dhk.3	-	4	458	c.413G>A	c.(412-414)aGg>aAg	p.R138K	PIGK_uc010orj.2_Missense_Mutation_p.R62K|PIGK_uc009wbx.3_Missense_Mutation_p.R44K|PIGK_uc001dhl.1_Missense_Mutation_p.R138K	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	138					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGGTGGGATCCTCCCAGTTAA	0.338000														18			7		0	0	0.013537	0	0
DNAH17	8632	broad.mit.edu	37	17	76570813	76570813	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76570813C>T	uc010dhp.2	-	1	452	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACCGCGATCAGCTGGTCCA	0.612000														69			13		0	0	0.013537	0	0
CD86	942	broad.mit.edu	37	3	121838366	121838366	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:121838366T>G	uc003eet.3	+	6	1103	c.975T>G	c.(973-975)agT>agG	p.S325R	CD86_uc011bjo.2_Missense_Mutation_p.S243R|CD86_uc011bjp.2_Missense_Mutation_p.S213R|CD86_uc003eeu.3_Missense_Mutation_p.S319R|CD86_uc021xcz.1_Missense_Mutation_p.S271R	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	325					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GCGACAAAAGTGATACATGTT	0.343000														15			11		0	0	0.001855	0	0
HCN1	348980	broad.mit.edu	37	5	45267205	45267205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:45267205C>T	uc003jok.3	-	6	1794	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	590						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R590*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGATCTAGTCGGTCAATGGC	0.398000														37			13		0	0	0.004007	0	0
OTUD4	54726	broad.mit.edu	37	4	146062615	146062615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:146062615G>A	uc003ika.4	-	18	1942	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	666							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GGAAACCCAGGATAGAGTGGG	0.478000														45			13		0	0	0.001855	0	0
SULF2	55959	broad.mit.edu	37	20	46365545	46365545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:46365545G>A	uc002xto.3	-	2	647	c.317C>T	c.(316-318)aCc>aTc	p.T106I	SULF2_uc002xtr.3_Missense_Mutation_p.T106I|SULF2_uc002xtq.3_Missense_Mutation_p.T106I|SULF2_uc010ghv.1_Missense_Mutation_p.T106I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	106					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTTGGTGTAGGTGTTGTGGTT	0.602000														27			13		0	0	0.002450	0	0
SCEL	8796	broad.mit.edu	37	13	78167696	78167696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:78167696G>A	uc001vki.3	+	11	910	c.740G>A	c.(739-741)aGa>aAa	p.R247K	SCEL_uc010thx.2_Missense_Mutation_p.R225K|SCEL_uc001vkj.3_Intron	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	247					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCACTTCAGAGAAGTGACAAA	0.373000														12			8		0	0	0.008291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599645	136599645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:136599645G>A	uc003qgx.1	-	3	627	c.374C>T	c.(373-375)tCc>tTc	p.S125F	BCLAF1_uc003qgy.1_Missense_Mutation_p.S123F|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S123F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S125F	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	125					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCTTCTGGATCTTTGAGA	0.448000														129			13		0	0	0.003163	0	0
MED25	81857	broad.mit.edu	37	19	50333462	50333462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:50333462C>T	uc002ppw.2	+	6	869	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.P50L	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCCCCGTCCCCCCGCAGTAC	0.652000														13			3		0	0	0.004672	0	0
TRHR	7201	broad.mit.edu	37	8	110131514	110131514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110131514G>A	uc003ymz.4	+	1	1116	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	343						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.T342K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAAGCCAACAGAGAAACCTGC	0.458000														66			27		0	0	0.004656	0	0
GPR116	221395	broad.mit.edu	37	6	46874426	46874426	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:46874426C>T	uc003oyo.3	-	1	363	c.74G>A	c.(73-75)tGg>tAg	p.W25*	GPR116_uc003oyp.3_Nonsense_Mutation_p.W25*|GPR116_uc003oyq.3_Nonsense_Mutation_p.W25*|GPR116_uc003oyr.2_Nonsense_Mutation_p.W25*|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	25					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCGTAATTCCAGTTCAGTGC	0.378000														57			23		0	0	0.005443	0	0
HNF4G	3174	broad.mit.edu	37	8	76476297	76476297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:76476297C>T	uc003yaq.3	+	10	1463	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	HNF4G_uc003yar.3_Missense_Mutation_p.S435L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	398					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)			TCAGTCATTTCACACCAGCAT	0.418000														42			16		0	0	0.004990	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512224	47512224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:47512224G>A	uc001cqt.3	+	8	1409	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CYP4X1_uc001cqr.3_Missense_Mutation_p.D386N|CYP4X1_uc001cqs.3_Missense_Mutation_p.D322N	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	387						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R386K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATTTCCAGAGATCTCAGCAA	0.512000														34			16		0	0	0.003163	0	0
SCTR	6344	broad.mit.edu	37	2	120236446	120236447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:120236446_120236447GG>AA	uc002tma.3	-	2	467_468	c.241_242CC>TT	c.(241-243)ccg>TTg	p.P81L	SCTR_uc002tlz.3_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	81					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CATCCGGCCCGGCACAGAAGAG	0.619000														42			7		0	0	0.004672	0	0
TBC1D2	55357	broad.mit.edu	37	9	100983148	100983148	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:100983148G>A	uc011lvb.2	-	5	1521	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	TBC1D2_uc004ayq.3_Silent_p.F447F|TBC1D2_uc004ayr.3_Silent_p.F229F	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	447						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTGGCTCAGGAAGTCCCTGT	0.642000														25			11		0	0	0.008291	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696928	108696928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:108696928G>A	uc022cch.1	-	2	1278	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.S398L	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	398					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTTCCATTTGAATCTGTCCT	0.438000														35			9		0	0	0.004482	0	0
OR8D4	338662	broad.mit.edu	37	11	123777304	123777304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123777304C>T	uc010saa.2	+	0	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55R(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCGTCAACTTCATACCCCCAT	0.408000														94			21		0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9063534	9063534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:9063534G>A	uc002mkp.3	-	2	24116	c.23912C>T	c.(23911-23913)tCc>tTc	p.S7971F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7973	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7970H(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						CAGAGAAAAGGAAGGTCTAGT	0.478000														26			7		0	0	0.003080	0	0
NXF2	56001	broad.mit.edu	37	X	101615544	101615544	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:101615544T>G	uc022cav.1	-	26	2840	c.1859A>C	c.(1858-1860)gAg>gCg	p.E620A	NXF2_uc004eiz.4_3'UTR|NXF2_uc004ejb.4_Missense_Mutation_p.E620A|NXF2_uc004eiy.4_Missense_Mutation_p.E620A	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	620	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding	p.A619T(1)		endometrium(2)|lung(2)	4						CTTGAAGGCCTCCGCGGGGAT	0.517000														38			8		0	0	0.003080	0	0
PDE6B	5158	broad.mit.edu	37	4	629686	629686	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:629686G>A	uc003gap.3	+	2	692	c.639G>A	c.(637-639)ctG>ctA	p.L213L	PDE6B_uc003gao.4_Silent_p.L213L	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	213	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGAAGTACCTGAATTTTGCCA	0.502000														37			7		0	0	0.001984	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482566	54482566	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:54482566C>T	uc002rxr.2	-	0	844	c.723G>A	c.(721-723)agG>agA	p.R241R	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	241					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGATGTCATTCCTCTGCTCCA	0.552000														38			7		0	0	0.001984	0	0
ARIH2	10425	broad.mit.edu	37	3	49005999	49005999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:49005999C>T	uc003cvb.3	+	6	883	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	ARIH2_uc003cvc.3_Missense_Mutation_p.R191C|ARIH2_uc003cvf.3_Missense_Mutation_p.R109C|ARIH2_uc010hkl.3_Missense_Mutation_p.R191C	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	191					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTGTCCACTCCGTACACCAGA	0.507000														79			20		0	0	0.008871	0	0
XDH	7498	broad.mit.edu	37	2	31569643	31569643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:31569643C>T	uc002rnv.1	-	29	3422	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1115					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.W1114*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACCCAGTCTTCCCAGGAGCCA	0.512000														103			19		0	0	0.002780	0	0
PMEL	6490	broad.mit.edu	37	12	56349608	56349608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:56349608G>A	uc001sir.3	-	7	2174	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	PMEL_uc001siq.3_Missense_Mutation_p.S504F|PMEL_uc010spx.2_Missense_Mutation_p.S418F|PMEL_uc001sip.3_Missense_Mutation_p.S504F	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	504					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCTCACCGGACGGCACAGC	0.537000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			8		0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55540151	55540151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:55540151G>A	uc003xsd.1	+	3	3857	c.3709G>A	c.(3709-3711)Gga>Aga	p.G1237R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1237					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)			CTCTTTGGATGGAGGTTGCTC	0.448000														68			19		0	0	0.012319	0	0
EEPD1	80820	broad.mit.edu	37	7	36338663	36338663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:36338663G>A	uc003tfa.3	+	7	2198	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	520					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TTGGATTCCGGATAACTGGTC	0.587000														67			14		0	0	0.002450	0	0
PSG7	5676	broad.mit.edu	37	19	43429959	43429959	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:43429959C>T	uc002ovl.4	-	5	1308	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.K281K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	403	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.468000														42			56		0	0	0.014410	0	0
OR4C46	119749	broad.mit.edu	37	11	51515284	51515284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:51515284G>A	uc010ric.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGAAATACATGGAGAATAGGA	0.274000														32			5		0	0	0.001984	0	0
CDCA2	157313	broad.mit.edu	37	8	25361032	25361032	+	Silent	SNP	C	T	T	rs76687559	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:25361032C>T	uc003xep.1	+	13	2292	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.S605S|CDCA2_uc003xeq.1_Silent_p.S590S|CDCA2_uc003xer.1_Silent_p.S268S	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	605					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TGACACCTTCCATTCCGAGCA	0.428000														67			25		0	0	0.010818	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801522	128801522	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:128801522G>A	uc003vop.2	+	1	214	c.105G>A	c.(103-105)gtG>gtA	p.V35V		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	35						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTCCACAGGTGATTTCCATGG	0.557000														87			15		0	0	0.004007	0	0
SPTB	6710	broad.mit.edu	37	14	65253310	65253310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:65253310C>T	uc001xht.3	-	14	3424	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	SPTB_uc001xhr.3_Missense_Mutation_p.E1125K|SPTB_uc001xhs.3_Missense_Mutation_p.E1125K|SPTB_uc001xhu.3_Missense_Mutation_p.E1125K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1125					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATCACTTTCTCCCCAGACTCC	0.592000														15			3		0	0	0.004672	0	0
OR2L13	284521	broad.mit.edu	37	1	248262767	248262767	+	Silent	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248262767C>A	uc001ids.3	+	2	427	c.90C>A	c.(88-90)atC>atA	p.I30I	OR2L13_uc021pmc.1_Silent_p.I30I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TGTGCCTTATCATCCTCATAT	0.443000														97			23		1.10513e-12	1.16098e-12	0.014323	1	0
SH2B1	25970	broad.mit.edu	37	16	28883932	28883932	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28883932C>T	uc002dri.3	+	9	2242	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.L291L|SH2B1_uc002drj.3_Silent_p.L601L|SH2B1_uc002drk.3_Silent_p.L601L|SH2B1_uc002drl.3_Silent_p.L601L|SH2B1_uc010vdd.2_Silent_p.L265L|SH2B1_uc010vde.2_Silent_p.L601L|SH2B1_uc002drm.3_Silent_p.L601L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	601	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGATATGCTCGAGCACTTCC	0.612000														44			12		0	0	0.013537	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907759	164907759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:164907759G>A	uc003fej.4	-	1	1304	c.860C>T	c.(859-861)tCt>tTt	p.S287F	SLITRK3_uc003fek.3_Missense_Mutation_p.S287F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S287F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	287						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTACCTCAGAGTCAGACAA	0.473000										HNSCC(40;0.11)				62			17		0	0	0.007413	0	0
MCCC1	56922	broad.mit.edu	37	3	182733275	182733275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:182733275G>A	uc003fle.3	-	18	2266	c.2129C>T	c.(2128-2130)cCt>cTt	p.P710L	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.P593L|MCCC1_uc003flg.3_Missense_Mutation_p.P601L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	710	Biotinyl-binding.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTCGACTAAAGGAGTGTGTCT	0.448000														102			25		0	0	0.003954	0	0
FOLH1	2346	broad.mit.edu	37	11	49196459	49196459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:49196459C>T	uc001ngy.3	-	8	1351	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	FOLH1_uc009yly.3_Missense_Mutation_p.G349R|FOLH1_uc009ylz.3_Missense_Mutation_p.G349R|FOLH1_uc001ngz.3_Missense_Mutation_p.G364R|FOLH1_uc009yma.3_Missense_Mutation_p.G56R	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	364	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G364A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCCACTGCTCCTCTGAGAGTA	0.373000														25			4		0	0	0.009096	0	0
ZNF461	92283	broad.mit.edu	37	19	37130870	37130870	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:37130870A>G	uc002oem.3	-	5	605	c.377T>C	c.(376-378)gTt>gCt	p.V126A	ZNF461_uc002oen.3_Missense_Mutation_p.V95A|ZNF461_uc010xtj.2_Missense_Mutation_p.V103A	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCCATGTTAACCCACTGGGA	0.388000														92			22		0	0	0.014323	0	0
GART	2618	broad.mit.edu	37	21	34878379	34878379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:34878379G>A	uc002yrz.3	-	18	2796	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	GART_uc002yrx.3_Missense_Mutation_p.R829W|GART_uc010gmd.3_Missense_Mutation_p.R491W|GART_uc002yry.3_Missense_Mutation_p.R829W	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	829	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.R829L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.423000														32			10		0	0	0.008291	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:39581281G>A	uc003xni.3	+	18	2087	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E654K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	678					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)			CTTTTATACTGAAAAAGGCTA	0.299000														42			12		0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21245744	21245744	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:21245744G>A	uc002red.3	-	17	2903	c.2775C>T	c.(2773-2775)atC>atT	p.I925I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	925	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGAAGGAATGATAAACTTCA	0.502000														181			56		0	0	0.014410	0	0
DNMT1	1786	broad.mit.edu	37	19	10250810	10250810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:10250810G>A	uc002mng.3	-	31	3850	c.3670C>T	c.(3670-3672)Ccg>Tcg	p.P1224S	DNMT1_uc002mnf.3_Missense_Mutation_p.P148S|DNMT1_uc010xlc.2_Missense_Mutation_p.P1240S|DNMT1_uc002mnh.3_Missense_Mutation_p.P1119S|DNMT1_uc010xld.2_Missense_Mutation_p.P1224S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1224	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGGCAGGGCGGCCCGCCGCAC	0.612000														37			7		0	0	0.004482	0	0
COTL1	23406	broad.mit.edu	37	16	84600517	84600517	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:84600517C>T	uc002fid.3	-	3	512	c.363G>A	c.(361-363)gaG>gaA	p.E121E		NM_021149	NP_066972	Q14019	COTL1_HUMAN	Homo sapiens coactosin-like 1 (Dictyostelium) (COTL1), mRNA.	121	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.L120Q(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						TGAAATCTTCCTCCAGCTCCT	0.527000														69			16		0	0	0.006122	0	0
OR11G2	390439	broad.mit.edu	37	14	20665930	20665930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20665930G>A	uc010tlb.2	+	0	436	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTCTCCTTGGGCTCTACAGA	0.502000														33			4		0	0	0.009096	0	0
KLKB1	3818	broad.mit.edu	37	4	187157996	187157996	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:187157996G>A	uc003iyy.3	+	4	461	c.390G>A	c.(388-390)aaG>aaA	p.K130K	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Silent_p.K92K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	130	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATGTGTCTAAGGTTAGCAGTG	0.388000														38			10		0	0	0.008291	0	0
WDR65	149465	broad.mit.edu	37	1	43652402	43652402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:43652402G>A	uc021omk.1	+	5	1140	c.994G>A	c.(994-996)Gat>Aat	p.D332N	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.D321N|WDR65_uc001ciq.2_Missense_Mutation_p.D332N|WDR65_uc001cip.2_Missense_Mutation_p.D332N	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	332										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGAGCAATGATCCAAGTCA	0.488000														44			13		0	0	0.003163	0	0
CACNG2	10369	broad.mit.edu	37	22	37098431	37098431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:37098431C>T	uc003aps.2	-	0	260	c.191G>A	c.(190-192)tGg>tAg	p.W64*	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	64					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGGTTCTCCATAATCCGGA	0.527000														65			17		0	0	0.008871	0	0
abParts	0	broad.mit.edu	37	14	106967412	106967412	+	RNA	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:106967412C>T	uc021ser.1	-	263		c.10088G>A								Parts of antibodies, mostly variable regions.																		ATCCCTTCCTCAGCCCTGGAA	0.557000														46			14		0	0	0.001855	0	0
TTLL3	26140	broad.mit.edu	37	3	9867621	9867622	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:9867621_9867622CC>TT	uc003btg.3	+	7	1339_1340	c.863_864CC>TT	c.(862-864)tcc>tTT	p.S288F	TTLL3_uc003btd.4_Missense_Mutation_p.S349F|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Missense_Mutation_p.S76F|TTLL3_uc010hco.1_Missense_Mutation_p.S224F|TTLL3_uc003bth.4_Missense_Mutation_p.S76F|TTLL3_uc011atj.2_Missense_Mutation_p.S224F|TTLL3_uc003btj.4_Missense_Mutation_p.S76F|TTLL3_uc003bti.4_Missense_Mutation_p.S76F|TTLL3_uc003btk.3_Missense_Mutation_p.S91F	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	288	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGAGCCAAGTCCCGCGGACGAG	0.584000														18			3		0	0	0.004672	0	0
DYRK2	8445	broad.mit.edu	37	12	68052401	68052401	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:68052401T>C	uc001str.4	+	2	2116	c.1714T>C	c.(1714-1716)Tca>Cca	p.S572P	DYRK2_uc001sts.4_Missense_Mutation_p.S499P|DYRK2_uc021raa.1_Missense_Mutation_p.S499P	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	572					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACCTTCTAGCTCAGCTTCCAA	0.483000														136			30		0	0	0.008361	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193724	193724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:193724G>A	uc001loa.1	+	1	88	c.68G>A	c.(67-69)gGg>gAg	p.G23E		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	23						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGGCCACAGGGGAGGACAAC	0.582000														41			5		0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100350500	100350500	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100350500G>A	uc003uwj.3	+	13	2937	c.2772G>A	c.(2770-2772)acG>acA	p.T924T	ZAN_uc003uwk.3_Silent_p.T924T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	924	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCA	0.502000														26			8		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857265	140857265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140857265G>A	uc003lkv.2	+	0	1697	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	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_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.E528K|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	525	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)			CCTAGACTATGAGGATCGGCG	0.493000														34			11		0	0	0.001855	0	0
MB21D2	151963	broad.mit.edu	37	3	192517384	192517384	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:192517384G>A	uc011bsp.2	-	1	588	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	89										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CACCTCCAGAGAGCAACAGGT	0.463000														28			6		0	0	0.001984	0	0
PAXIP1	22976	broad.mit.edu	37	7	154790397	154790397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:154790397C>T	uc022aqg.1	-	1	222	c.179G>A	c.(178-180)gGa>gAa	p.G60E	PAXIP1_uc022aqf.1_Missense_Mutation_p.G60E|PAXIP1_uc022aqh.1_5'UTR|PAXIP1_uc022aqi.1_Missense_Mutation_p.G60E	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	60	BRCT 1.				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)		CCGAGCTTCTCCCACCTCTGG	0.413000														14			3		0	0	0.004672	0	0
AURKC	6795	broad.mit.edu	37	19	57743987	57743987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57743987G>A	uc002qoe.3	+	3	563	c.374G>A	c.(373-375)aGg>aAg	p.R125K	AURKC_uc002qoc.3_Missense_Mutation_p.R106K|AURKC_uc002qod.3_Missense_Mutation_p.R91K|AURKC_uc010etv.3_Missense_Mutation_p.R122K	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	125	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TATGCTCCAAGGGGTGAGCTC	0.512000														57			15		0	0	0.003163	0	0
KRT6A	3853	broad.mit.edu	37	12	52885419	52885419	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:52885419G>A	uc001sam.3	-	1	851	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	214	Linker 1.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTACTGCTCGAACAACGGCT	0.597000														52			13		0	0	0.001855	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129296	248129296	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248129296C>T	uc010pzd.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GACTTATTATCTTGCTACTAC	0.443000														21			14		0	0	0.001855	0	0
PAPPA	5069	broad.mit.edu	37	9	119115031	119115031	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:119115031C>T	uc004bjn.3	+	15	4392	c.4011C>T	c.(4009-4011)ttC>ttT	p.F1337F	PAPPA_uc011lxq.2_Silent_p.F712F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1337	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGGTCCTTCCCAGAGGCCC	0.602000														28			11		0	0	0.010729	0	0
ITLN1	55600	broad.mit.edu	37	1	160854622	160854622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:160854622C>T	uc001fxc.3	-	1	162	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	16					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTACTCCATCCTCTGGTGGTC	0.493000														127			23		0	0	0.004656	0	0
RNF213	57674	broad.mit.edu	37	17	78291019	78291019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:78291019C>T	uc002jyh.2	+	16	3133	c.2990C>T	c.(2989-2991)cCc>cTc	p.P997L	RNF213_uc002jyf.3_Missense_Mutation_p.P948L|RNF213_uc021uen.1_Missense_Mutation_p.P948L|RNF213_uc002jyg.1_Missense_Mutation_p.P679L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	948										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCCAATTCCCCGCGGAGCAT	0.562000														45			12		0	0	0.003163	0	0
LAX1	54900	broad.mit.edu	37	1	203734697	203734697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:203734697G>A	uc001haa.3	+	0	414	c.4G>A	c.(4-6)Gat>Aat	p.D2N	LAX1_uc010pql.2_Intron	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	2					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding	p.D2N(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATACAATGGATGGTGTCAC	0.517000														25			8		0	0	0.006214	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822407	26822407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:26822407G>A	uc001iss.3	+	8	1174	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	APBB1IP_uc009xks.1_Missense_Mutation_p.E285K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	285					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAAGCAAGGAAACTAATGA	0.333000														19			4		0	0	0.001168	0	0
LUZP2	338645	broad.mit.edu	37	11	25100118	25100118	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:25100118T>C	uc001mqs.3	+	11	1229	c.955T>C	c.(955-957)Tgc>Cgc	p.C319R	LUZP2_uc009yif.3_Missense_Mutation_p.C233R|LUZP2_uc009yig.3_Missense_Mutation_p.C277R	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	319						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGCCTCCTTGCTCTGAATG	0.328000														32			11		0	0	0.013537	0	0
KRT16	3868	broad.mit.edu	37	17	39767698	39767698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:39767698G>A	uc002hxg.4	-	2	809	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617000														42			7		0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21230175	21230175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:21230175G>A	uc002red.3	-	25	9693	c.9565C>T	c.(9565-9567)Cct>Tct	p.P3189S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3189	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACAGCCAAAGGATTTGTGATG	0.348000														237			70		0	0	0.014410	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504997	70504997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70504997C>T	uc011caq.2	-	2	1081	c.965G>A	c.(964-966)gGa>gAa	p.G322E	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.G121E|UGT2A1_uc021xox.1_Missense_Mutation_p.G121E|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	112					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAAGTTTTCCTAGTTCTTT	0.363000														56			14		0	0	0.002450	0	0
ZNF567	163081	broad.mit.edu	37	19	37210565	37210565	+	Silent	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:37210565A>G	uc010xtl.2	+	5	1161	c.939A>G	c.(937-939)gaA>gaG	p.E313E	ZNF567_uc002oeo.1_Silent_p.E313E|ZNF567_uc010xtk.1_Silent_p.E313E|ZNF567_uc002oep.4_Silent_p.E282E|ZNF567_uc002oeq.1_Silent_p.E282E	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTGCAATGAATGTGGTAAGT	0.423000														29			7		0	0	0.004482	0	0
TCF20	6942	broad.mit.edu	37	22	42605785	42605785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:42605785G>A	uc003bcj.1	-	0	5661	c.5527C>T	c.(5527-5529)Cct>Tct	p.P1843S	TCF20_uc003bck.1_Missense_Mutation_p.P1843S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTAGTTCAGGGATTTGTAAC	0.517000														98			29		0	0	0.007291	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47121384	47121384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:47121384C>T	uc002iom.3	+	10	1590	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	IGF2BP1_uc010dbj.3_Missense_Mutation_p.A280V	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	419	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGTGGGCGCCATCATCGGC	0.597000														58			16		0	0	0.004990	0	0
SOX30	11063	broad.mit.edu	37	5	157065541	157065541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:157065541G>A	uc003lxb.1	-	3	1919	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.S221F	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	526					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGCTTCAGAATGCAGCTG	0.527000														29			6		0	0	0.001168	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128647	150128648	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:150128647_150128648CC>TT	uc003exv.3	+	0	1860_1861	c.1510_1511CC>TT	c.(1510-1512)ccc>TTc	p.P504F	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.P504F	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	504							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCCGTGGTGCCCGGAGTTCCA	0.673000														22			7		0	0	0.004672	0	0
GPR98	84059	broad.mit.edu	37	5	90040865	90040865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:90040865C>T	uc003kju.3	+	50	10648	c.10552C>T	c.(10552-10554)Cac>Tac	p.H3518Y	GPR98_uc003kjt.3_Missense_Mutation_p.H1224Y|GPR98_uc003kjv.3_Missense_Mutation_p.H1118Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3518					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGCAGCCCACATACTTCT	0.413000														173			21		0	0	0.002780	0	0
KDM3B	51780	broad.mit.edu	37	5	137754723	137754723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:137754723C>T	uc003lcy.1	+	13	3717	c.3517C>T	c.(3517-3519)Cca>Tca	p.P1173S	KDM3B_uc010jew.1_Missense_Mutation_p.P829S|KDM3B_uc011cys.1_Missense_Mutation_p.P205S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1173					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGTAACAACTCCAGAGCCGGA	0.488000														44			4		0	0	0.009096	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638438	48638438	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:48638438G>A	uc003cub.1	-	7	981	c.936C>T	c.(934-936)ggC>ggT	p.G312G		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	312					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AGTCATAGTGGCCGATGATGG	0.607000														12			7		0	0	0.003080	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463757	24463757	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:24463757C>T	uc001biq.2	-	2	422	c.219G>A	c.(217-219)cgG>cgA	p.R73R	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.R73R	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	73	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCGGGTGATCCGCTGACAGC	0.632000														41			11		0	0	0.008291	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512954	69512954	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69512954G>A	uc021xow.1	-	5	1619	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	487					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGTGGTACTGGATCCAGGTGA	0.488000														60			13		0	0	0.013537	0	0
KLHL13	90293	broad.mit.edu	37	X	117043931	117043931	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:117043931C>T	uc011mtp.2	-	5	841	c.708G>A	c.(706-708)ttG>ttA	p.L236L	KLHL13_uc004eqk.3_Silent_p.L182L|KLHL13_uc004eql.3_Silent_p.L233L|KLHL13_uc011mtn.2_Silent_p.L73L|KLHL13_uc011mto.2_Silent_p.L227L|KLHL13_uc011mtq.2_Silent_p.L217L|KLHL13_uc004eqm.3_Silent_p.L191L|KLHL13_uc022cde.1_Silent_p.L217L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	233	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGGGAGTTTCAAGAACTCCC	0.458000														73			23		0	0	0.002780	0	0
VPS13C	54832	broad.mit.edu	37	15	62214711	62214711	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:62214711A>G	uc002agz.3	-	53	6951	c.6860T>C	c.(6859-6861)tTa>tCa	p.L2287S	VPS13C_uc002aha.3_Missense_Mutation_p.L2244S|VPS13C_uc002ahb.2_Missense_Mutation_p.L2287S|VPS13C_uc002ahc.2_Missense_Mutation_p.L2244S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2287					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCCACATTCTAAGGTAACTTG	0.383000														74			14		0	0	0.004007	0	0
GPR50	9248	broad.mit.edu	37	X	150345310	150345310	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:150345310C>T	uc010ntg.2	+	0	255	c.117C>T	c.(115-117)atC>atT	p.I39I	GPR50_uc011myc.2_Silent_p.I39I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	39					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTATCACCATCGTTGTAGACC	0.512000														103			27		0	0	0.007291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250091	140250091	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140250091C>A	uc003lia.2	+	0	2261	c.1403C>A	c.(1402-1404)cCa>cAa	p.P468Q	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_uc011dae.2_Missense_Mutation_p.P468Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	483	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)			GAGAACAACCCACCAGGCTGC	0.667000														81			24		7.87624e-14	8.30739e-14	0.002780	1	0
ASCC2	84164	broad.mit.edu	37	22	30209479	30209479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:30209479G>A	uc003agr.3	-	7	917	c.773C>T	c.(772-774)gCc>gTc	p.A258V	ASCC2_uc011akr.2_Missense_Mutation_p.A182V|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATCCAGAAAGGCCCAAAGTGT	0.448000														36			7		0	0	0.004482	0	0
ACAN	176	broad.mit.edu	37	15	89416190	89416190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:89416190G>A	uc010upo.1	+	15	7641	c.7267G>A	c.(7267-7269)Gag>Aag	p.E2423K	ACAN_uc010upp.1_Missense_Mutation_p.E2385K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2423					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATCTGGCACGAGAAGGGCGA	0.572000														16			6		0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:55539794C>T	uc003xsd.1	+	3	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1118					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)			TGTTCCCTTTCATTCTGCAAT	0.423000														32			4		0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136567447	136567447	+	Missense_Mutation	SNP	C	T	T	rs140434720		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:136567447C>T	uc002tuu.1	-	7	2481	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	824	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCTGCTGTCGCTGAAGTTG	0.507000														72			15		0	0	0.004007	0	0
ZNF808	388558	broad.mit.edu	37	19	53067399	53067399	+	RNA	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:53067399C>T	uc002pzq.2	+	3		c.3911C>T						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGTCCGATTTCCCAGTGGATT	0.428000														23			3		0	0	0.004672	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:222716972G>A	uc001hnh.1	-	1	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTCCAGGCACGAATAATAAAT	0.468000														384			112		0	0	0.014410	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140935	143140935	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:143140935C>T	uc011ktg.2	+	0	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	130					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCCTGTCTTCTTCTGGCTAA	0.493000														93			33		0	0	0.006230	0	0
IGF1	3479	broad.mit.edu	37	12	102811618	102811618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:102811618C>T	uc001tjp.4	-	3	785	c.566G>A	c.(565-567)tGc>tAc	p.C189Y	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	189					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TTTGCCTCTGCATTCAGCATT	0.458000														204			35		0	0	0.006230	0	0
SLIT2	9353	broad.mit.edu	37	4	20620555	20620555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:20620555G>A	uc003gpr.1	+	36	4717	c.4513G>A	c.(4513-4515)Gaa>Aaa	p.E1505K	SLIT2_uc003gps.1_Missense_Mutation_p.E1497K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1505	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.F1504F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATACTCTTTCGAATGCACTGA	0.562000														25			11		0	0	0.010729	0	0
SH2B1	25970	broad.mit.edu	37	16	28883930	28883930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28883930C>T	uc002dri.3	+	9	2240	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.L291F|SH2B1_uc002drj.3_Missense_Mutation_p.L601F|SH2B1_uc002drk.3_Missense_Mutation_p.L601F|SH2B1_uc002drl.3_Missense_Mutation_p.L601F|SH2B1_uc010vdd.2_Missense_Mutation_p.L265F|SH2B1_uc010vde.2_Missense_Mutation_p.L601F|SH2B1_uc002drm.3_Missense_Mutation_p.L601F	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	601	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTTCGATATGCTCGAGCACTT	0.607000														46			12		0	0	0.013537	0	0
DUSP2	1844	broad.mit.edu	37	2	96809623	96809623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:96809623G>A	uc002svk.4	-	3	970	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_004418	NP_004409	Q05923	DUS2_HUMAN	Homo sapiens dual specificity phosphatase 2 (DUSP2), mRNA.	295	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GAAGTTGGGGGAGATGACCCC	0.622000														14			4		0	0	0.009096	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279924	53279924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:53279924G>A	uc004dsd.3	-	4	2035	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	IQSEC2_uc004dsc.3_Missense_Mutation_p.R407C|IQSEC2_uc022bxf.1_Missense_Mutation_p.R375C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	602	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ACAGAGCCGCGATCTGAGCGG	0.652000														13			5		0	0	0.001168	0	0
CLCN5	1184	broad.mit.edu	37	X	49855004	49855005	+	Missense_Mutation	DNP	GG	AA	AA	rs140246004		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:49855004_49855005GG>AA	uc004dos.1	+	9	2014_2015	c.1766_1767GG>AA	c.(1765-1767)cgg>cAA	p.R589Q	CLCN5_uc004dor.1_Missense_Mutation_p.R659Q|CLCN5_uc004doq.1_Missense_Mutation_p.R659Q|CLCN5_uc004dot.1_Missense_Mutation_p.R589Q	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	589	CBS 1.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGAAACCCCGGAGAAATGATC	0.465000														58			9		0	0	0.004672	0	0
GRIK1	2897	broad.mit.edu	37	21	30961298	30961298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:30961298C>T	uc002yno.1	-	10	1894	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	GRIK1_uc002ynn.3_Missense_Mutation_p.G462E|GRIK1_uc011acs.2_Missense_Mutation_p.G477E|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.G320E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	477					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TAGGCAATATCCTTCAAATCT	0.363000														55			18		0	0	0.007413	0	0
COL5A1	1289	broad.mit.edu	37	9	137694743	137694743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:137694743G>A	uc004cfe.3	+	38	3398	c.3016G>A	c.(3016-3018)Gga>Aga	p.G1006R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1006	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.T1005M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTCCCACGGGAGAAACGGG	0.597000														12			6		0	0	0.001984	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221642	42221642	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42221642G>A	uc002orl.3	+	4	1348	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	CEACAM5_uc002orj.1_Silent_p.L408L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	409	Ig-like 4.					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)		CAGTCATCCTGAATGTCCTCT	0.517000														84			19		0	0	0.002780	0	0
WHSC1	7468	broad.mit.edu	37	4	1902596	1902596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:1902596C>T	uc003gdz.4	+	1	391	c.215C>T	c.(214-216)cCc>cTc	p.P72L	WHSC1_uc003geb.4_Missense_Mutation_p.P72L|WHSC1_uc003gec.4_Missense_Mutation_p.P72L|WHSC1_uc003ged.4_Missense_Mutation_p.P72L|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.P72L|WHSC1_uc003gdy.1_Missense_Mutation_p.P72L|WHSC1_uc010icd.1_Missense_Mutation_p.P72L|WHSC1_uc003gea.1_Missense_Mutation_p.P72L|WHSC1_uc010ice.1_Missense_Mutation_p.P72L|WHSC1_uc003geg.1_Missense_Mutation_p.P72L|WHSC1_uc003geh.1_Missense_Mutation_p.P72L	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	72					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACGCCCTGCCCTTTATTCCA	0.552000			T	IGH@	MM									45			14		0	0	0.004007	0	0
LCE3D	84648	broad.mit.edu	37	1	152552270	152552270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152552270G>A	uc021oza.1	-	0	143	c.143C>T	c.(142-144)tCc>tTc	p.S48F	LCE3D_uc001fab.3_Missense_Mutation_p.S48F	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCGCCCTCGGAGCTAGGGCC	0.667000														43			16		0	0	0.004990	0	0
GRM2	2912	broad.mit.edu	37	3	51751692	51751693	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51751692_51751693GG>AA	uc010hlv.3	+	4	2643_2644	c.2404_2405GG>AA	c.(2404-2406)ggc>AAc	p.G802N	GRM2_uc003dbo.4_Missense_Mutation_p.G184N|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	802					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)	CAGCCTCAGCGGCTCCGTGGTG	0.629000														19			8		0	0	0.004672	0	0
GBP7	388646	broad.mit.edu	37	1	89614989	89614989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:89614989G>A	uc001dna.2	-	6	1277	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	380						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTTCTTCTGAAATTCCTGG	0.408000														20			5		0	0	0.000602	0	0
SMS	6611	broad.mit.edu	37	X	22010804	22010804	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:22010804C>T	uc004dag.3	+	9	1263	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	345					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAAAGGAGATCGTCTGTGTCC	0.423000														46			9		0	0	0.010729	0	0
TRPV5	56302	broad.mit.edu	37	7	142612534	142612534	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:142612534A>G	uc003wby.1	-	9	1493	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	410					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGAGGCACCAACCCTGAAGAT	0.517000														57			17		0	0	0.006122	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33048570	33048570	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:33048570C>T	uc003ocu.2	+	1	338	c.222C>T	c.(220-222)ttC>ttT	p.F74F	HLA-DPA1_uc021ywg.1_5'Flank|HLA-DPA1_uc021ywh.1_5'Flank|HLA-DPB1_uc011dqn.2_Non-coding_Transcript|HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_5'UTR	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	74	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGGGGAGTTCCGGGCGGTGA	0.627000														49			5		0	0	0.001984	0	0
NOL8	55035	broad.mit.edu	37	9	95069259	95069259	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:95069259T>G	uc022bjx.1	-	10	3071	c.2734A>C	c.(2734-2736)Aaa>Caa	p.K912Q	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.K844Q	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	912					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCTTTCTTTTTTTCTTCAGCA	0.348000														46			16		0	0	0.003163	0	0
TNRC6C	57690	broad.mit.edu	37	17	76063945	76063945	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76063945C>T	uc002jud.2	+	5	3319	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	TNRC6C_uc002juf.2_Nonsense_Mutation_p.Q904*|TNRC6C_uc002jue.2_Nonsense_Mutation_p.Q904*	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	907	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCTGCTTCCCAAGAAAGCAC	0.517000														42			10		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447941	96447941	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:96447941C>T	uc001kjv.4	+	2	717	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	CYP2C19_uc001kjw.4_Silent_p.L131L|CYP2C19_uc009xus.1_5'UTR|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	131					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTCATGACTCTGCGGAATTT	0.502000														32			7		0	0	0.001984	0	0
SMS	6611	broad.mit.edu	37	X	22002442	22002442	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:22002442C>T	uc004dag.3	+	7	999	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	257					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	AAGACTGTATCCCGGTACTGA	0.398000														64			20		0	0	0.002780	0	0
SYNE1	23345	broad.mit.edu	37	6	152841601	152841601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:152841601C>T	uc021zhb.1	-	3	525	c.302G>A	c.(301-303)gGa>gAa	p.G101E	SYNE1_uc003qot.4_Missense_Mutation_p.G101E|SYNE1_uc003qou.4_Missense_Mutation_p.G101E|SYNE1_uc010kjb.1_Missense_Mutation_p.G101E|SYNE1_uc003qpa.1_Missense_Mutation_p.G101E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	101	Actin-binding.|CH 1.				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.E100K(1)		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)		TACCTTTCTTCCTTCGAGGAA	0.453000										HNSCC(10;0.0054)				76			26		0	0	0.012213	0	0
PWP2	5822	broad.mit.edu	37	21	45537723	45537723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:45537723G>A	uc002zeb.3	+	7	949	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	287						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAAAGAAGGGGATTTTAACAA	0.493000														64			26		0	0	0.003330	0	0
PNPLA5	150379	broad.mit.edu	37	22	44287012	44287012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:44287012G>A	uc003beg.3	-	1	489	c.356C>T	c.(355-357)tCg>tTg	p.S119L	PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.S119L|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_5'UTR	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	119	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCGGGTCAGCGAAATGCCCAG	0.687000														25			11		0	0	0.002450	0	0
OR10P1	121130	broad.mit.edu	37	12	56031319	56031320	+	Missense_Mutation	DNP	TT	AC	AC			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:56031319_56031320TT>AC	uc010spq.2	+	0	644_645	c.644_645TT>AC	c.(643-645)att>aAC	p.I215N		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCTCTCTGATTGTCACCTCTT	0.569000														68			16		0	0	0.004672	0	0
MAGI2	9863	broad.mit.edu	37	7	78256458	78256458	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:78256458G>A	uc003ugx.3	-	2	770	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MAGI2_uc003ugy.3_Silent_p.L172L|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_Silent_p.L9L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	172	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACTTTCTAGGAGAGCACCAC	0.443000														22			4		0	0	0.001168	0	0
IL17A	3605	broad.mit.edu	37	6	52052501	52052502	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:52052501_52052502GG>AA	uc003pak.1	+	1	173_174	c.128_129GG>AA	c.(127-129)cgg>cAA	p.R43Q		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	43					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.R43R(1)|p.P42L(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACTTCCCCCGGACTGTGATGG	0.500000														102			29		0	0	0.004672	0	0
LAMB3	3914	broad.mit.edu	37	1	209805940	209805940	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:209805940G>A	uc001hhg.3	-	6	1200	c.810C>T	c.(808-810)tcC>tcT	p.S270S	LAMB3_uc009xco.3_Silent_p.S270S|LAMB3_uc001hhh.3_Silent_p.S270S|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Silent_p.S206S	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	270	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.P269S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCACAGCGGTGGAGGGGCCTG	0.632000														52			15		0	0	0.004990	0	0
L1CAM	3897	broad.mit.edu	37	X	153136579	153136579	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:153136579C>T	uc004fjb.3	-	4	564	c.456G>A	c.(454-456)gaG>gaA	p.E152E	L1CAM_uc004fjc.3_Silent_p.E152E|L1CAM_uc010nuo.3_Silent_p.E147E|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Silent_p.E147E	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	152	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACCACTGACTCCCCTTCCT	0.632000														35			12		0	0	0.013537	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798741	55798741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55798741C>T	uc010riw.2	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGTATTTCCCATGTTTAA	0.348000														28			8		0	0	0.004482	0	0
TRIB1	10221	broad.mit.edu	37	8	126445567	126445567	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:126445567C>T	uc003yrx.3	+	1	951	c.369C>T	c.(367-369)ccC>ccT	p.P123P	TRIB1_uc011lis.2_5'UTR|TRIB1_uc010mdn.3_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	123	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGGTGTTTCCCATTAAACACT	0.522000														259			51		0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	51013311	51013311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:51013311G>A	uc002lfe.2	+	25	4497	c.3881G>A	c.(3880-3882)gGa>gAa	p.G1294E	DCC_uc010dpf.2_Missense_Mutation_p.G929E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1294					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGAGGTTTCGGAGCAGGAAGA	0.468000														36			12		0	0	0.010729	0	0
STOML3	161003	broad.mit.edu	37	13	39542552	39542552	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:39542552C>T	uc001uwx.3	-	5	774	c.636G>A	c.(634-636)cgG>cgA	p.R212R	STOML3_uc010tez.2_Silent_p.R203R	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane		p.R212Q(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CTCTCGCTTCCCGGGTGGCCT	0.567000														49			9		0	0	0.006214	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446612	107446612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:107446612G>A	uc002tdq.3	-	4	1347	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ST6GAL2_uc002tdr.3_Missense_Mutation_p.H410Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H410Y	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	410					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						AATTTAGGATGAAGAATGTAA	0.373000														51			30		0	0	0.006320	0	0
MEGF8	1954	broad.mit.edu	37	19	42839536	42839536	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42839536C>T	uc002otl.4	+	5	1463	c.828_splice	c.e5+1	p.P276_splice	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	276						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTCCTGCCCCGGTATGGACC	0.612000														45			7		0	0	0.006214	0	0
ABCC12	94160	broad.mit.edu	37	16	48174678	48174679	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:48174678_48174679GG>AA	uc002efc.1	-	3	922_923	c.576_577CC>TT	c.(574-579)atccgg>atTTgg	p.R193W	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R193W|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	193	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACCTTCAACCGGATGGCCGTGC	0.530000														73			11		0	0	0.004672	0	0
LSM14A	26065	broad.mit.edu	37	19	34699852	34699852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:34699852C>T	uc002nvb.4	+	3	630	c.434C>T	c.(433-435)tCc>tTc	p.S145F	LSM14A_uc002nva.4_Missense_Mutation_p.S145F|LSM14A_uc010xru.2_Intron|LSM14A_uc002nvc.4_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	145					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCTTTGACATCCTTTGGAACA	0.323000														17			5		0	0	0.000602	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806033	97806033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:97806033G>A	uc011bgs.2	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATATCAGAGGGAAATAAGACT	0.373000														62			16		0	0	0.003163	0	0
DENND1A	57706	broad.mit.edu	37	9	126144351	126144351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:126144351G>A	uc011lzm.1	-	20	2637	c.2423C>T	c.(2422-2424)aCc>aTc	p.T808I	DENND1A_uc011lzl.1_Missense_Mutation_p.T615I|DENND1A_uc004bny.1_Missense_Mutation_p.T579I|DENND1A_uc004bnz.1_Missense_Mutation_p.T797I|DENND1A_uc010mwh.1_Missense_Mutation_p.T218I	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	797	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGACGGGAGGGTGCTGCCTGA	0.701000														19			7		0	0	0.004482	0	0
STK19	8859	broad.mit.edu	37	6	31940487	31940487	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:31940487C>A	uc003nyv.3	+	2	648	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.Q131K|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.Q174K|STK19_uc011dox.1_Missense_Mutation_p.Q131K|STK19_uc003nyw.3_Missense_Mutation_p.Q174K|STK19_uc010jtn.1_Intron	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	174						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCTGAGGAGCCAGGTGTACAG	0.662000														54			27		8.58068e-18	9.07462e-18	0.007291	1	0
LRRC17	10234	broad.mit.edu	37	7	102579963	102579963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:102579963G>A	uc003vau.3	+	2	1248	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.E287K	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	287					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCGACCCAAGGAATTTGAAGA	0.383000														52			13		0	0	0.013537	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22134223G>A	uc010tmd.2	+	0	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000														18			3		0	0	0.004672	0	0
ACCSL	390110	broad.mit.edu	37	11	44074611	44074611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:44074611G>A	uc001mxw.1	+	6	997	c.941G>A	c.(940-942)aGg>aAg	p.R314K	ACCSL_uc009ykr.2_Missense_Mutation_p.R133K	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	314							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTGAAGCTAGGCTTGAGGTA	0.458000														39			12		0	0	0.010729	0	0
LYNX1	66004	broad.mit.edu	37	8	143846092	143846092	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:143846092G>A	uc003yxb.3	-	4	955	c.327C>T	c.(325-327)atC>atT	p.I109I	LYNX1_uc003yxa.3_Silent_p.I75I	NM_023946	NP_076435	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 1, mRNA.	75						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCAGGCTGGGGATATCGGGGC	0.637000														65			18		0	0	0.006122	0	0
PCDH1	5097	broad.mit.edu	37	5	141243308	141243308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:141243308G>A	uc003llp.3	-	2	2705	c.2588C>T	c.(2587-2589)gCc>gTc	p.A863V	PCDH1_uc011dbf.2_Missense_Mutation_p.A841V|PCDH1_uc003llq.3_Missense_Mutation_p.A863V	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	863					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAAGGCCACGGCCACCACACC	0.582000														172			28		0	0	0.009535	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55563223C>T	uc010rim.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000														46			7		0	0	0.001984	0	0
C1orf74	148304	broad.mit.edu	37	1	209956302	209956302	+	Silent	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:209956302A>G	uc001hhp.1	-	1	921	c.678T>C	c.(676-678)agT>agC	p.S226S	C1orf74_uc021pio.1_Silent_p.S226S	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	226										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CTGGGAACAAACTCTCTGGGA	0.498000														50			20		0	0	0.008871	0	0
SHANK2	22941	broad.mit.edu	37	11	70336410	70336410	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:70336410C>A	uc001oqc.3	-	18	2436	c.2324G>T	c.(2323-2325)cGa>cTa	p.R775L	SHANK2_uc010rqn.2_Missense_Mutation_p.R251L|SHANK2_uc001opz.3_Missense_Mutation_p.R246L|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.R243L|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.R54L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	462					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCGTACCTCGAGGGATGCC	0.562000														60			13		9.05144e-12	9.4962e-12	0.001855	1	0
TGM7	116179	broad.mit.edu	37	15	43571937	43571937	+	Missense_Mutation	SNP	G	A	A	rs143155861	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:43571937G>A	uc001zrf.1	-	9	1569	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	522					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ATGGGCCCCCGAGGGTGGGTG	0.662000														44			11		0	0	0.008291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882704	144882704	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:144882704G>A	uc021ouh.1	-	23	3617	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L1105L|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Silent_p.L112L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1105					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTTCCCTGGAGCTTTCTGA	0.478000			T	PDGFRB	MPD									173			36		0	0	0.006230	0	0
C6	729	broad.mit.edu	37	5	41159253	41159253	+	Missense_Mutation	SNP	C	T	T	rs148521858	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:41159253C>T	uc003jmk.2	-	11	1997	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	C6_uc003jml.1_Missense_Mutation_p.R596Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	596	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCCCTCCTCGTTGGGGGGC	0.502000														67			8		0	0	0.008291	0	0
COL1A2	1278	broad.mit.edu	37	7	94037187	94037187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:94037187G>A	uc003ung.1	+	12	1094	c.623G>A	c.(622-624)gGa>gAa	p.G208E	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	208					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGAAAATGGAACTCCAGGT	0.338000										HNSCC(75;0.22)				24			6		0	0	0.001984	0	0
ZFP112	7771	broad.mit.edu	37	19	44891904	44891904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:44891904C>T	uc010xxa.2	-	3	567	c.524G>A	c.(523-525)gGa>gAa	p.G175E	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.G168E	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CATGTAAATTCCCTTATATCT	0.468000														62			19		0	0	0.008871	0	0
TRAK1	22906	broad.mit.edu	37	3	42243952	42243952	+	Silent	SNP	G	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:42243952G>C	uc003cky.3	+	12	1668	c.1452G>C	c.(1450-1452)ccG>ccC	p.P484P	TRAK1_uc011azh.2_Silent_p.P484P|TRAK1_uc011azi.2_Silent_p.P484P|TRAK1_uc003ckz.4_Silent_p.P410P|TRAK1_uc011azj.2_Silent_p.P410P|TRAK1_uc003cla.3_Silent_p.P426P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	484	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GTAAGAAGCCGGGGACGCCGG	0.642000														43			4		0	0	0.001168	0	0
CST9	128822	broad.mit.edu	37	20	23586408	23586408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:23586408C>T	uc002wtl.3	-	0	203	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	32						extracellular region	cysteine-type endopeptidase inhibitor activity	p.E32K(2)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATTTCCTCTTCAGAACACCAG	0.512000														64			18		0	0	0.004990	0	0
DOCK10	55619	broad.mit.edu	37	2	225739407	225739407	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225739407G>A	uc010fwz.1	-	8	1232	c.993C>T	c.(991-993)aaC>aaT	p.N331N	DOCK10_uc002vob.2_Silent_p.N325N|DOCK10_uc002vod.1_Silent_p.N331N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	331							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTGTAGGTTGTTCTCTGAAG	0.338000														76			11		0	0	0.001855	0	0
OR2W3	343171	broad.mit.edu	37	1	248058987	248058987	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248058987C>T	uc010pzb.2	+	0	99	c.99C>T	c.(97-99)atC>atT	p.I33I	OR2W3_uc001idp.1_Silent_p.I33I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATCCTGATCGCGTACCTCC	0.567000														66			20		0	0	0.008871	0	0
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:42356113C>T	uc001wvm.3	+	2	1483	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_uc010ana.3_Silent_p.F95F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348000										HNSCC(30;0.082)				38			10		0	0	0.013537	0	0
PTPRK	5796	broad.mit.edu	37	6	128505719	128505719	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:128505719G>A	uc003qbk.3	-	6	1387	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	PTPRK_uc010kfc.3_Silent_p.T340T|PTPRK_uc003qbj.3_Silent_p.T340T|PTPRK_uc011ebu.2_Silent_p.T340T|PTPRK_uc003qbl.1_Silent_p.T210T|PTPRK_uc011ebv.1_Silent_p.T340T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	340	Fibronectin type-III 1.				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)		TGACTGCATGGGTTTCTGTCC	0.438000														88			23		0	0	0.005443	0	0
DCC	1630	broad.mit.edu	37	18	50683815	50683815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:50683815C>T	uc002lfe.2	+	7	1967	c.1351C>T	c.(1351-1353)Cca>Tca	p.P451S	DCC_uc010xdr.1_Missense_Mutation_p.P299S|DCC_uc010dpf.2_Missense_Mutation_p.P106S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	451	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCTGGCGCCCACCTGCAGA	0.498000														52			7		0	0	0.001984	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172032	32172032	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:32172032C>T	uc003obb.3	-	18	3139	c.3000G>A	c.(2998-3000)ggG>ggA	p.G1000G	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1000	EGF-like 25.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCGTAGCCCCACAAAGC	0.597000														170			73		0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11572782	11572782	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11572782C>A	uc002gne.3	+	16	3092	c.3024C>A	c.(3022-3024)agC>agA	p.S1008R	DNAH9_uc010coo.3_Missense_Mutation_p.S302R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1008	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTATCAGAGCACCTTCAGCC	0.542000														53			12		0.000978159	0.00100881	0.010729	1	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:3254555C>T	uc010uwu.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000														100			23		0	0	0.003954	0	0
EEF2	1938	broad.mit.edu	37	19	3979950	3979950	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:3979950G>A	uc002lze.3	-	9	1544	c.1461C>T	c.(1459-1461)acC>acT	p.T487T		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	487						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCTCGAAGGTGGTGATGG	0.627000														20			6		0	0	0.001168	0	0
ARAF	369	broad.mit.edu	37	X	47426077	47426077	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:47426077C>T	uc011mlp.2	+	6	791	c.597C>T	c.(595-597)ttC>ttT	p.F199F	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Silent_p.F65F|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	199					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACTTCCCCTTCCCTGCCCCAG	0.637000														11			4		0	0	0.000602	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721967	24721967	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:24721967G>A	uc001iru.4	+	3	1000	c.597G>A	c.(595-597)agG>agA	p.R199R	KIAA1217_uc001irs.3_Silent_p.R119R|KIAA1217_uc001irt.4_Silent_p.R199R|KIAA1217_uc010qcy.2_Silent_p.R199R|KIAA1217_uc010qcz.2_Silent_p.R199R|KIAA1217_uc001irv.1_Silent_p.R49R|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	199					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCAGCTCAGGATGCCGAATG	0.493000														38			5		0	0	0.003080	0	0
BMPER	168667	broad.mit.edu	37	7	34118566	34118566	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:34118566A>T	uc011kap.2	+	12	1550	c.1176A>T	c.(1174-1176)aaA>aaT	p.K392N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	392	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTTGACAAAAGACTGCTCCT	0.582000														73			15		0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126370209	126370209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:126370209G>A	uc003ifj.4	+	8	8038	c.8038G>A	c.(8038-8040)Gaa>Aaa	p.E2680K	FAT4_uc011cgp.2_Missense_Mutation_p.E978K|FAT4_uc003ifi.1_Missense_Mutation_p.E158K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2680	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAATATTGGAAAACCTTTC	0.373000														73			8		0	0	0.003080	0	0
RTDR1	27156	broad.mit.edu	37	22	23401850	23401850	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:23401850C>A	uc002zwt.3	-	6	995	c.837G>T	c.(835-837)gaG>gaT	p.E279D		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	279							binding	p.L278L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGTGCAGCAGCTCCAGGAGCA	0.657000														66			12		0.00316338	0.00325824	0.003163	1	0
OR2W1	26692	broad.mit.edu	37	6	29012592	29012592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29012592C>T	uc003nlw.2	-	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTAAAACGATCATAGGACATA	0.403000														17			12		0	0	0.013537	0	0
AGXT2	64902	broad.mit.edu	37	5	35035371	35035371	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35035371C>T	uc003jjf.3	-	4	780	c.537G>A	c.(535-537)ctG>ctA	p.L179L	AGXT2_uc011com.2_Silent_p.L179L|AGXT2_uc011con.2_Silent_p.L87L	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	179					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCCTGGCCATCAGCATGGCCA	0.433000														122			16		0	0	0.004007	0	0
OR51B2	79345	broad.mit.edu	37	11	5345070	5345070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:5345070G>A	uc001mao.1	-	0	513	c.458C>T	c.(457-459)tCc>tTc	p.S153F	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.	153					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)		AGGCAGGATGGATACAAAACC	0.413000														33			10		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	140990796	140990796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:140990796G>A	uc002tvj.1	-	90	14731	c.13759C>T	c.(13759-13761)Cca>Tca	p.P4587S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4587					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4587Q(1)		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)		ATTTTCTTTGGAAGCAGTTCT	0.323000										TSP Lung(27;0.18)				20			5		0	0	0.001168	0	0
APBA1	320	broad.mit.edu	37	9	72067068	72067068	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:72067068G>A	uc004ahh.2	-	8	2214	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	646					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGAGAAGTGGATCAGGTCAT	0.522000														68			23		0	0	0.003954	0	0
INO80D	54891	broad.mit.edu	37	2	206869967	206869967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:206869967G>A	uc002vaz.4	-	10	2614	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	737					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGCAGAACGGAGCAGGTTC	0.522000														37			6		0	0	0.001984	0	0
HPX	3263	broad.mit.edu	37	11	6461515	6461515	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:6461515C>T	uc001mdg.2	-	4	276	c.215_splice	c.e4-1	p.G72_splice	HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.G72_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	72	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACACAAACTCCCCTGAAAAAA	0.483000														37			7		0	0	0.004482	0	0
RANBP2	5903	broad.mit.edu	37	2	109379918	109379918	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:109379918T>C	uc002tem.4	+	19	3049	c.2923T>C	c.(2923-2925)Ttg>Ctg	p.L975L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	975					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATCCACCTTTGCCAGAACC	0.408000														37			13		0	0	0.013537	0	0
PTPRB	5787	broad.mit.edu	37	12	70988417	70988417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:70988417C>T	uc001swb.4	-	3	722	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	PTPRB_uc010sto.2_Missense_Mutation_p.R231Q|PTPRB_uc010stp.2_Missense_Mutation_p.R231Q|PTPRB_uc001swc.4_Missense_Mutation_p.R449Q|PTPRB_uc001swa.4_Missense_Mutation_p.R449Q|PTPRB_uc001swd.4_Missense_Mutation_p.R448Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R328Q|PTPRB_uc001swe.3_Missense_Mutation_p.R449Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	231	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGCCGGTATCGTTCCACATT	0.473000														44			6		0	0	0.001984	0	0
LIPF	8513	broad.mit.edu	37	10	90427359	90427359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:90427359G>A	uc001kfg.2	+	2	253	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LIPF_uc009xtk.3_Missense_Mutation_p.E47K|LIPF_uc001kfh.2_Missense_Mutation_p.E57K|LIPF_uc010qmt.2_Missense_Mutation_p.E57K|LIPF_uc010qmu.2_Missense_Mutation_p.E47K	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	47					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATACCCAAATGAAGAATATGA	0.294000														56			12		0	0	0.003163	0	0
STARD13	90627	broad.mit.edu	37	13	33700224	33700224	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:33700224G>A	uc001uuw.3	-	6	2202	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	STARD13_uc001uuu.3_Silent_p.L684L|STARD13_uc001uuv.3_Silent_p.L574L|STARD13_uc001uux.3_Silent_p.L657L|STARD13_uc021rhz.1_Silent_p.L684L|STARD13_uc021ria.1_Silent_p.L574L	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	692	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.L692L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTGATCGAGGCAGTTGC	0.552000														47			11		0	0	0.008291	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177649486	177649486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:177649486C>T	uc003miz.3	-	7	1049	c.797G>A	c.(796-798)gGa>gAa	p.G266E	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.G225E|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.G124E	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	266						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAAGTCTTTTCCCTGGAGCTG	0.607000														52			6		0	0	0.001168	0	0
GP2	2813	broad.mit.edu	37	16	20329707	20329707	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:20329707C>A	uc002dgv.3	-	7	1145	c.1062G>T	c.(1060-1062)agG>agT	p.R354S	GP2_uc002dgw.3_Missense_Mutation_p.R351S|GP2_uc002dgx.3_Missense_Mutation_p.R207S|GP2_uc002dgy.3_Missense_Mutation_p.R204S	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	354	ZP.					anchored to membrane|extracellular region|plasma membrane		p.L354F(1)|p.A353V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGAGGGCCATCCTGACAATGA	0.483000														95			19		5.35047e-06	5.56167e-06	0.003330	1	0
GMPR2	51292	broad.mit.edu	37	14	24706750	24706750	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:24706750G>T	uc001wnr.3	+	7	1061	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	GMPR2_uc001wnu.2_Missense_Mutation_p.D191Y|GMPR2_uc001wns.3_Missense_Mutation_p.D227Y|GMPR2_uc001wnv.3_Missense_Mutation_p.D64Y|GMPR2_uc010alk.1_Missense_Mutation_p.D227Y|GMPR2_uc001wnw.3_Missense_Mutation_p.D227Y|GMPR2_uc001wnx.3_Missense_Mutation_p.D245Y|GMPR2_uc010all.3_Missense_Mutation_p.D199Y|GMPR2_uc010toe.1_Missense_Mutation_p.D227Y	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	227					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CTGTCCTGGGGATGTGGCCAA	0.502000														72			20		1.00905e-13	1.06286e-13	0.008871	1	0
CKM	1158	broad.mit.edu	37	19	45811753	45811753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:45811753C>T	uc002pbd.3	-	5	864	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	231	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)	TGATCCTCCTCGTTCACCCAC	0.602000														53			20		0	0	0.002780	0	0
WWC2	80014	broad.mit.edu	37	4	184182164	184182164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:184182164C>T	uc010irx.3	+	10	1570	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	WWC2_uc003ivk.4_Missense_Mutation_p.S258F|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.S145F|WWC2_uc003ivn.4_Missense_Mutation_p.S27F	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	463	Ser-rich.									NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCACTCAACTCCCTCAGTTCC	0.517000														12			4		0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152674513	152674513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:152674513G>A	uc021zhb.1	-	66	11361	c.11138C>T	c.(11137-11139)tCc>tTc	p.S3713F	SYNE1_uc003qot.4_Missense_Mutation_p.S3698F|SYNE1_uc003qou.4_Missense_Mutation_p.S3713F|SYNE1_uc010kja.2_Missense_Mutation_p.S418F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3713					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			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)		GGAACTGAGGGATGATTCTGA	0.378000										HNSCC(10;0.0054)				42			16		0	0	0.006122	0	0
MS4A8B	83661	broad.mit.edu	37	11	60470945	60470945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:60470945G>A	uc001npv.3	+	2	517	c.314G>A	c.(313-315)gGa>gAa	p.G105E	MS4A8B_uc009yne.1_Missense_Mutation_p.G105E	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	105						integral to membrane	receptor activity	p.Y104*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCATTCTACGGAGGCTTTCCC	0.562000														78			17		0	0	0.008871	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319155	21319155	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:21319155C>T	uc021tss.1	+	2	871	c.501C>T	c.(499-501)atC>atT	p.I167I	KCNJ18_uc002gyv.1_Silent_p.I167I|KCNJ18_uc021tst.1_Silent_p.I167I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	167						integral to membrane	inward rectifier potassium channel activity										CCCAGTCCATCGTGGGCTGCA	0.617000														36			4		0	0	0.009096	0	0
OR6T1	219874	broad.mit.edu	37	11	123814338	123814339	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123814338_123814339CC>AT	uc010sab.2	-	0	207_208	c.207_208GG>AT	c.(205-210)ctggag>ctATag	p.E70*		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCAACAGCTCCAGGAAGGAGA	0.495000														65			9		0	0	0.004672	0	0
USP26	83844	broad.mit.edu	37	X	132160520	132160520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:132160520G>A	uc011mvf.2	-	0	1781	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	USP26_uc010nrm.1_Nonsense_Mutation_p.R577*	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	577					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCATCTTTCGAATAACTTTT	0.398000														34			4		0	0	0.001168	0	0
ZNF709	163051	broad.mit.edu	37	19	12576106	12576106	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:12576106G>A	uc002mtv.4	-	3	791	c.630C>T	c.(628-630)acC>acT	p.T210T	ZNF709_uc002mtw.4_Silent_p.T178T|ZNF709_uc002mtx.4_Silent_p.T210T	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTCCTCGAAAGGTTGTGTGAT	0.408000														45			15		0	0	0.003163	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095806	83095806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:83095806G>A	uc003uhy.2	-	3	1069	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	SEMA3E_uc022agy.1_Missense_Mutation_p.H90Y	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	150	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACCTCCAAATGATATCCAACT	0.378000														14			8		0	0	0.003080	0	0
NIN	51199	broad.mit.edu	37	14	51243724	51243724	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:51243724G>A	uc001wyi.3	-	6	800	c.609C>T	c.(607-609)aaC>aaT	p.N203N	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.N203N|NIN_uc001wyk.3_Silent_p.N203N|NIN_uc001wyo.3_Silent_p.N203N|NIN_uc001wyp.1_Silent_p.N165N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	203	EF-hand 3.			N -> D (in Ref. 2; AAG33512).	centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTTCTTCCGGTTCAGGTGAC	0.458000			T	PDGFRB	MPD									49			9		0	0	0.006214	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185196	127185196	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:127185196G>A	uc004eum.3	-	0	1187	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	330						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGAAGCTGTGATCTTGATGG	0.522000														66			18		0	0	0.004990	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829553	146829553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:146829553C>T	uc003weu.2	+	7	1816	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	434	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGGGTGTTCACATCAACAT	0.428000										HNSCC(39;0.1)				18			6		0	0	0.004482	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687308	8687308	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:8687308T>C	uc001quo.1	-	5	751	c.586A>G	c.(586-588)Acc>Gcc	p.T196A		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	196	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGGAAACAGGTTACATCATTC	0.418000														45			16		0	0	0.003163	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55735767G>A	uc010rit.2	-	0	173	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(2)|p.S58S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000														32			13		0	0	0.004007	0	0
APOA4	337	broad.mit.edu	37	11	116692323	116692323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:116692323C>T	uc001pps.1	-	2	555	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGCAGCTGCTCGGCCTGCGTG	0.687000														100			22		0	0	0.012319	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300099	15300099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15300099C>T	uc002nan.3	-	6	1253	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	NOTCH3_uc002nao.1_Missense_Mutation_p.D393N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	393	EGF-like 10; 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)			GAGCACTCGTCCACATCCTGG	0.632000														65			18		0	0	0.010504	0	0
ZNF254	9534	broad.mit.edu	37	19	24309748	24309748	+	Missense_Mutation	SNP	C	T	T	rs146986501		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:24309748C>T	uc002nru.3	+	3	1080	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	ZNF254_uc010xrk.2_Missense_Mutation_p.H231Y	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	316					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAGAAAATTCATACTAGAAA	0.383000														17			4		0	0	0.009096	0	0
FAM193A	8603	broad.mit.edu	37	4	2702142	2702142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:2702142C>T	uc010ick.3	+	17	3971	c.3970C>T	c.(3970-3972)Cct>Tct	p.P1324S	FAM193A_uc003gfd.3_Missense_Mutation_p.P1124S|FAM193A_uc011bvm.2_Missense_Mutation_p.P1146S|FAM193A_uc011bvn.2_Missense_Mutation_p.P1124S|FAM193A_uc010icl.3_Missense_Mutation_p.P1124S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P978S	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1124										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAACCCAACCCCTATGGAGCC	0.473000														26			6		0	0	0.001984	0	0
PSG5	5673	broad.mit.edu	37	19	43680107	43680107	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:43680107C>T	uc002ovu.3	-	2	755	c.624G>A	c.(622-624)acG>acA	p.T208T	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.T208T	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	208	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTCATTTCTCGTGACACTGG	0.498000														125			23		0	0	0.008361	0	0
GAP43	2596	broad.mit.edu	37	3	115394989	115394989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:115394989G>A	uc003ebr.2	+	2	942	c.268G>A	c.(268-270)Gag>Aag	p.E90K	GAP43_uc003ebq.2_Missense_Mutation_p.E54K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	54					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTCAAAGGAGAGAAGAAGGA	0.473000														25			9		0	0	0.004482	0	0
SCN11A	11280	broad.mit.edu	37	3	38950535	38950535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:38950535C>T	uc021wvy.1	-	8	1451	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	418					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AACATCTTTTCCTTGGCCTCT	0.512000														91			33		0	0	0.003755	0	0
GABRA1	2554	broad.mit.edu	37	5	161292770	161292770	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:161292770C>T	uc010jiw.3	+	4	699	c.231C>T	c.(229-231)ttC>ttT	p.F77F	GABRA1_uc010jix.3_Silent_p.F77F|GABRA1_uc010jiy.3_Silent_p.F77F|GABRA1_uc003lyx.4_Silent_p.F77F|GABRA1_uc010jiz.3_Silent_p.F77F|GABRA1_uc010jja.3_Silent_p.F77F|GABRA1_uc010jjb.3_Silent_p.F77F	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	77					gamma-aminobutyric acid signaling pathway|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(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACCAGTTTCGGACCCGTTT	0.378000														96			12		0	0	0.004007	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38189091	38189091	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:38189091T>A	uc003xli.3	-	4	1441	c.923A>T	c.(922-924)tAt>tTt	p.Y308F	WHSC1L1_uc011lbm.2_Missense_Mutation_p.Y308F|WHSC1L1_uc010lwe.3_Missense_Mutation_p.Y308F|WHSC1L1_uc003xlj.3_Missense_Mutation_p.Y308F	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	308	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGGACATGATATTCTCGGGC	0.398000			T	NUP98	AML									21			9		0	0	0.008291	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276318	15276318	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15276318G>A	uc002nan.3	-	30	5752	c.5676C>T	c.(5674-5676)atC>atT	p.I1892I		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1892					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)			AGCGGTTTCGGATGAGAATCT	0.587000														24			4		0	0	0.000602	0	0
OR6N2	81442	broad.mit.edu	37	1	158746909	158746909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158746909C>T	uc010pir.2	-	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGTTGGATTTCATTGTAAGCA	0.473000														25			10		0	0	0.006214	0	0
LDB3	11155	broad.mit.edu	37	10	88476105	88476105	+	Missense_Mutation	SNP	C	T	T	rs141870580	by1000genomes	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:88476105C>T	uc001kdv.3	+	8	1276	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LDB3_uc010qml.1_Missense_Mutation_p.P355L|LDB3_uc010qmm.2_Missense_Mutation_p.P423L|LDB3_uc009xsz.3_Missense_Mutation_p.P47L|LDB3_uc001kdu.3_Missense_Mutation_p.P308L|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	418						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACCTACAGCCCGTCCCCAGGG	0.592000														24			6		0	0	0.003080	0	0
LAMA1	284217	broad.mit.edu	37	18	6973109	6973109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:6973109C>T	uc002knm.3	-	46	6815	c.6721G>A	c.(6721-6723)Gat>Aat	p.D2241N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1717N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2241	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTACATCCAGAACATTA	0.373000														62			10		0	0	0.013537	0	0
FGD6	55785	broad.mit.edu	37	12	95603337	95603337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:95603337G>A	uc001tdp.4	-	1	1947	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	575					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCTGAAAAGGGTAAAATAGGA	0.463000														70			22		0	0	0.002780	0	0
ATP7B	540	broad.mit.edu	37	13	52534368	52534368	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:52534368G>A	uc001vfw.2	-	6	2194	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	ATP7B_uc001vfy.2_Silent_p.H568H|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc010tgt.1_Silent_p.H679H|ATP7B_uc010tgu.1_Silent_p.H679H|ATP7B_uc010tgv.1_Silent_p.H679H|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	679					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCATGGACTGGTGGGGCTCGT	0.463000									Wilson disease					36			9		0	0	0.004482	0	0
CUL1	8454	broad.mit.edu	37	7	148496393	148496393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:148496393G>A	uc010lpg.3	+	20	2689	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	CUL1_uc003wey.3_Missense_Mutation_p.M721I|CUL1_uc003wez.3_Missense_Mutation_p.M611I|CUL1_uc003wfa.3_Missense_Mutation_p.M382I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	721					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATGAAGATGAGGAAGGTTC	0.453000														27			7		0	0	0.006214	0	0
RLBP1	6017	broad.mit.edu	37	15	89753551	89753551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:89753551C>T	uc002bnl.3	-	8	1299	c.919G>A	c.(919-921)Ggc>Agc	p.G307S		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	307					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.G307G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCCTGGGGGCCAAAGAGCTGC	0.557000														53			14		0	0	0.008871	0	0
SPNS1	83985	broad.mit.edu	37	16	28992876	28992876	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28992876C>G	uc010vdi.1	+	6	889	c.749C>G	c.(748-750)tCa>tGa	p.S250*	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Nonsense_Mutation_p.S177*|SPNS1_uc002dsa.2_Nonsense_Mutation_p.S250*|SPNS1_uc002drz.2_Nonsense_Mutation_p.S250*|SPNS1_uc010byp.2_Nonsense_Mutation_p.S228*|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	250					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GAGCGCCACTCAGATTTGCCA	0.627000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			10		0	0	0.006214	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015542	41015542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:41015542C>T	uc003jmj.4	-	28	3413	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E530K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	975							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCCAGCCCTTCCTGCAAACCC	0.418000														21			9		0	0	0.006214	0	0
KRT33A	3883	broad.mit.edu	37	17	39506827	39506827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:39506827C>T	uc002hwk.1	-	0	230	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	65	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622000														82			11		0	0	0.013537	0	0
PPRC1	23082	broad.mit.edu	37	10	103900969	103900969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:103900969C>T	uc001kum.3	+	4	2743	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	PPRC1_uc001kun.3_Missense_Mutation_p.L782F|PPRC1_uc010qqj.2_Missense_Mutation_p.L902F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	902	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTCCTAGTCTTCCATTGTC	0.592000														33			10		0	0	0.008291	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120435	120435	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrGL000209.1:120435T>C	uc010yie.2	+	3	398	c.387T>C	c.(385-387)ccT>ccC	p.P129P	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Silent_p.P126P|KIR2DL2_uc002qum.3_Silent_p.P129P	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	129					regulation of immune response	integral to membrane|plasma membrane	receptor activity										ATGAGAAACCTTCTCTCTCAG	0.562000														11			16		0	0	0.007291	0	0
ICAM5	7087	broad.mit.edu	37	19	10402719	10402719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:10402719C>T	uc002mnu.4	+	3	747	c.682C>T	c.(682-684)Ccg>Tcg	p.P228S	ICAM5_uc002mnv.4_Missense_Mutation_p.P103S	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	228	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCCCTGTCTCCGGATGCCCC	0.562000														35			6		0	0	0.003080	0	0
OR4K2	390431	broad.mit.edu	37	14	20344937	20344937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20344937C>T	uc001vwh.1	+	0	511	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTGTGGTCCCTATGAGGT	0.478000														314			44		0	0	0.014410	0	0
CCBE1	147372	broad.mit.edu	37	18	57115224	57115224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:57115224C>T	uc002lib.3	-	6	836	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	CCBE1_uc010dpq.3_Silent_p.R31R|CCBE1_uc002lia.3_Missense_Mutation_p.G109S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	256	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCGGGAGGGCCCTGGCCCCCA	0.582000														58			14		0	0	0.004007	0	0
CBS	875	broad.mit.edu	37	21	44492159	44492159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:44492159G>A	uc002zcu.2	-	2	390	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	CBS_uc002zct.2_Missense_Mutation_p.P49S|CBS_uc002zcw.3_Missense_Mutation_p.P49S|CBS_uc002zcv.2_Missense_Mutation_p.P49S	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	49			P -> L (in CBSD).		L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CACCTGCTCGGAGCATCGGGC	0.657000														196			61		0	0	0.014410	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35065841G>A	uc003jjm.3	-	9	1778	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H306Y|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	407					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000														89			32		0	0	0.003755	0	0
EVX2	344191	broad.mit.edu	37	2	176948384	176948384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:176948384C>T	uc010zeu.2	-	0	307	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	41						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TGCGAATTTTCCAGGGCCTCG	0.602000														39			17		0	0	0.004990	0	0
OR51A2	401667	broad.mit.edu	37	11	4976283	4976283	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4976283G>A	uc010qyt.2	-	0	661	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGAGGATCAGGGTGTAAGAC	0.428000														35			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167787	140167787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140167787G>A	uc003lhb.2	+	0	1912	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.D638N	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	649	Cadherin 6.				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)			TCGTGTCCTGGACGAGGCTGA	0.652000														50			14		0	0	0.003163	0	0
FOXA1	3169	broad.mit.edu	37	14	38061747	38061747	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:38061747G>T	uc001wuf.3	-	1	554	c.242C>A	c.(241-243)gCa>gAa	p.A81E	FOXA1_uc010tpz.2_Missense_Mutation_p.A48E	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	81					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCCGGCTACTGCGCCGGGACT	0.687000														37			13		2.27111e-07	2.36699e-07	0.013537	1	0
DENND3	22898	broad.mit.edu	37	8	142200413	142200413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:142200413G>A	uc003yvy.3	+	19	3314	c.3036G>A	c.(3034-3036)atG>atA	p.M1012I	DENND3_uc010mep.3_Missense_Mutation_p.M973I|DENND3_uc003ywa.1_Missense_Mutation_p.M62I|DENND3_uc003ywb.3_Missense_Mutation_p.M62I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1012										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACGGCATGGTGCTGGTGT	0.587000														48			15		0	0	0.004007	0	0
ELTD1	64123	broad.mit.edu	37	1	79392696	79392696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:79392696G>A	uc001diq.4	-	7	1114	c.958C>T	c.(958-960)Caa>Taa	p.Q320*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	320					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCATAATTTTGAGGTTTCAAT	0.318000														30			4		0	0	0.009096	0	0
GFRA3	2676	broad.mit.edu	37	5	137593625	137593625	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:137593625A>C	uc003lcn.3	-	3	628	c.488T>G	c.(487-489)cTc>cGc	p.L163R	GFRA3_uc003lco.3_Missense_Mutation_p.L132R	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	163					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCAAACTTGAGGCAGAGGTC	0.652000														17			4		0	0	0.000602	0	0
ZW10	9183	broad.mit.edu	37	11	113608318	113608318	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:113608318G>A	uc001poe.3	-	13	2089	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	664					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTTTGCCAATGACCTCAGAAA	0.423000														61			16		0	0	0.004990	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627726	65627726	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:65627726G>A	uc002aos.2	-	3	840	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	196	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAAGTCCTGTGATCTGCAGGA	0.572000														54			16		0	0	0.004990	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123777295C>T	uc010saa.2	+	0	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000														88			18		0	0	0.007413	0	0
ST14	6768	broad.mit.edu	37	11	130066550	130066550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:130066550G>A	uc001qfw.3	+	10	1502	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	ST14_uc010sca.1_Missense_Mutation_p.D247N	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	437	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.T436T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTCCTACACCGACACCGGCTT	0.582000														42			8		0	0	0.008291	0	0
ACTL8	81569	broad.mit.edu	37	1	18149517	18149517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:18149517C>T	uc001bat.3	+	1	230	c.14C>T	c.(13-15)aCc>aTc	p.T5I		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	5						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCTGCAAGAACCGTTATCATT	0.587000														25			4		0	0	0.009096	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033436	82033436	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:82033436C>T	uc002fgu.3	-	2	590	c.462G>A	c.(460-462)cgG>cgA	p.R154R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	154					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTGACTTTGTCCGAGAGTAGT	0.532000														49			5		0	0	0.000602	0	0
OR2A12	346525	broad.mit.edu	37	7	143792314	143792314	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:143792314G>A	uc011kty.2	+	0	114	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L38M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCTTAACCCTGATGGGAAATG	0.493000														42			10		0	0	0.006214	0	0
OR1N1	138883	broad.mit.edu	37	9	125289540	125289540	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:125289540G>A	uc004bmn.1	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTCCTCGGAGGAAAAATTCAG	0.473000														12			3		0	0	0.004672	0	0
FGD3	89846	broad.mit.edu	37	9	95768347	95768347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:95768347C>T	uc004asz.2	+	5	1250	c.722C>T	c.(721-723)gCc>gTc	p.A241V	FGD3_uc004asw.2_Missense_Mutation_p.A241V|FGD3_uc004asx.2_Missense_Mutation_p.A241V|FGD3_uc004ata.3_Missense_Mutation_p.A44V	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	241	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGAAGCTGGCCCCATTCCTG	0.547000														53			16		0	0	0.004007	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587228	33587228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:33587228C>T	uc002nug.1	+	6	1042	c.728C>T	c.(727-729)cCc>cTc	p.P243L		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	243						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCCTGGATCCCCACCAGGCA	0.453000														79			50		0	0	0.014410	0	0
ZC3H6	376940	broad.mit.edu	37	2	113060816	113060816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:113060816C>T	uc002thq.1	+	2	618	c.224C>T	c.(223-225)cCa>cTa	p.P75L	ZC3H6_uc002thr.1_Missense_Mutation_p.H53Y	NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	75							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CATAATTCCCCATCTAGTGAT	0.363000														83			10		0	0	0.010729	0	0
CCDC135	84229	broad.mit.edu	37	16	57760123	57760123	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:57760123C>T	uc002emi.3	+	12	1991	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	CCDC135_uc002emj.3_Silent_p.F634F|CCDC135_uc002emk.3_Silent_p.F569F	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	634						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCGCGAGTTCCTGCGGCGCA	0.657000														32			9		0	0	0.008291	0	0
TRIM58	25893	broad.mit.edu	37	1	248023996	248023996	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248023996A>C	uc001ido.3	+	1	546	c.498A>C	c.(496-498)aaA>aaC	p.K166N		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	166						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGTGGGGAAAAAGACTGTCA	0.478000														54			17		0	0	0.007413	0	0
CCDC147	159686	broad.mit.edu	37	10	106128220	106128220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:106128220C>T	uc001kyh.3	+	5	966	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	278										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CGAGCAATTTCAGATGAGAAA	0.408000														21			8		0	0	0.003080	0	0
GLI2	2736	broad.mit.edu	37	2	121732575	121732575	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:121732575G>T	uc010flp.3	+	7	1288	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	GLI2_uc002tmq.1_Missense_Mutation_p.D92Y|GLI2_uc002tmr.1_Missense_Mutation_p.D75Y|GLI2_uc002tmt.4_Missense_Mutation_p.D92Y|GLI2_uc002tmu.4_Missense_Mutation_p.D75Y|GLI2_uc010flo.1_Missense_Mutation_p.D278Y|GLI2_uc002tmw.1_Missense_Mutation_p.D403Y	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	420					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCAAGGAAGATCTGGACAG	0.582000														47			11		4.68919e-08	4.90657e-08	0.008291	1	0
DSP	1832	broad.mit.edu	37	6	7570790	7570790	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:7570790C>T	uc003mxp.1	+	12	1974	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	DSP_uc003mxq.1_Silent_p.I565I|DSP_uc021yle.1_Silent_p.I565I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	565	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCATGACAATCGCCAAGGTAT	0.557000														71			15		0	0	0.004007	0	0
VPS35	55737	broad.mit.edu	37	16	46715297	46715297	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:46715297G>A	uc002eef.4	-	3	414	c.315C>T	c.(313-315)atC>atT	p.I105I	VPS35_uc002eed.3_5'Flank|VPS35_uc002eee.3_Silent_p.I66I	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	105					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACAGCCTTGGGATAATGTTTC	0.363000														46			6		0	0	0.003080	0	0
LCK	3932	broad.mit.edu	37	1	32742299	32742299	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:32742299G>C	uc001bux.3	+	8	1014	c.876G>C	c.(874-876)atG>atC	p.M292I	LCK_uc001buy.3_Missense_Mutation_p.M292I|LCK_uc001buz.3_Missense_Mutation_p.M292I|LCK_uc010ohc.1_Missense_Mutation_p.M336I|LCK_uc001bva.3_Missense_Mutation_p.M299I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	292	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity	p.M292I(2)|p.M299I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CCAACCTCATGAAGCAGCTGC	0.607000			T	TRB@	T-ALL									32			4		0	0	0.001168	0	0
DCST2	127579	broad.mit.edu	37	1	155002970	155002970	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155002970G>A	uc001fgm.3	-	5	1037	c.957C>T	c.(955-957)gtC>gtT	p.V319V	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	319						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCTCTCGGACACGGTGCA	0.642000														29			5		0	0	0.000602	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810674	65810674	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:65810674G>A	uc001ogv.3	-	1	760	c.600C>T	c.(598-600)ttC>ttT	p.F200F	GAL3ST3_uc001ogw.3_Silent_p.F200F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	200					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGTTGTGTGCGAACATGGCGA	0.706000														44			12		0	0	0.001855	0	0
LMX1A	4009	broad.mit.edu	37	1	165218718	165218718	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:165218718C>T	uc001gcz.2	-	3	617	c.423G>A	c.(421-423)caG>caA	p.Q141Q	LMX1A_uc021pdz.1_Silent_p.Q141Q	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	141	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCAGAGCAGCTGCCCCTCCT	0.607000														41			17		0	0	0.006122	0	0
OR4A16	81327	broad.mit.edu	37	11	55111031	55111031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55111031G>A	uc010rie.2	+	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GATGGCCTATGATCGCTATGT	0.458000														109			18		0	0	0.008871	0	0
THSD7A	221981	broad.mit.edu	37	7	11452340	11452340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:11452340C>T	uc021zzo.1	-	17	3877	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	THSD7A_uc021zzn.1_Missense_Mutation_p.E1207K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1209	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTTCTTTCTCAACAGCATTA	0.418000										HNSCC(18;0.044)				23			5		0	0	0.000602	0	0
ZFP42	132625	broad.mit.edu	37	4	188924380	188924380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:188924380C>T	uc003izh.1	+	3	827	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZFP42_uc003izi.1_Missense_Mutation_p.S140L|ZFP42_uc021xvm.1_Missense_Mutation_p.S140L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAGAGAATTCGCTTGAGTAT	0.423000														56			16		0	0	0.003163	0	0
OR11G2	390439	broad.mit.edu	37	14	20666414	20666414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20666414G>A	uc010tlb.2	+	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		aatgaagctggaaagcagaag	0.453000														80			9		0	0	0.006214	0	0
SLC4A10	57282	broad.mit.edu	37	2	162761303	162761303	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:162761303C>T	uc002ubx.4	+	13	1819	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.L526L|SLC4A10_uc002uby.4_Silent_p.L515L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	545					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGAATCTCTCTTTGGAGCAT	0.408000														65			16		0	0	0.004007	0	0
CBL	867	broad.mit.edu	37	11	119170400	119170400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:119170400C>T	uc001pwe.3	+	15	2768	c.2630C>T	c.(2629-2631)gCt>gTt	p.A877V		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	877	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATCCAGAAAGCTTTGGTCATT	0.532000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					190			35		0	0	0.005524	0	0
FOXK1	221937	broad.mit.edu	37	7	4780522	4780522	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:4780522A>G	uc003snc.1	+	1	624	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	FOXK1_uc003sna.1_Missense_Mutation_p.Y42C|FOXK1_uc003snb.1_Missense_Mutation_p.Y205C	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	205					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACGTCGCTCTATCACAAAGAA	0.617000														106			28		0	0	0.006320	0	0
F11	2160	broad.mit.edu	37	4	187201430	187201430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:187201430G>A	uc003iza.1	+	8	1252	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	307	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGAAGAACTGGATATTGTTGC	0.488000														106			22		0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9012861	9012861	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:9012861G>A	uc002mkp.3	-	33	38787	c.38583C>T	c.(38581-38583)ttC>ttT	p.F12861F	MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12863	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGATGGTGAAGTTGAGGG	0.532000														105			27		0	0	0.004656	0	0
GFPT2	9945	broad.mit.edu	37	5	179743970	179743970	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:179743970G>A	uc003mlw.1	-	10	1145	c.1047C>T	c.(1045-1047)acC>acT	p.T349T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	349					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TACCTGTGTTGGTTTCAAAAT	0.483000														47			6		0	0	0.001984	0	0
DPP10	57628	broad.mit.edu	37	2	116257132	116257132	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:116257132G>A	uc002tle.3	+	3	351	c.330G>A	c.(328-330)ctG>ctA	p.L110L	DPP10_uc002tla.2_Silent_p.L106L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Silent_p.L56L|DPP10_uc002tlc.2_Silent_p.L102L|DPP10_uc002tlf.2_Silent_p.L99L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	106					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCATTAAACTGAATATAGAAA	0.289000														27			6		0	0	0.001984	0	0
PCTP	58488	broad.mit.edu	37	17	53851191	53851191	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:53851191T>G	uc002iul.4	+	3	571	c.446T>G	c.(445-447)gTg>gGg	p.V149G	PCTP_uc002ium.4_Missense_Mutation_p.V77G|PCTP_uc010dch.3_Non-coding_Transcript	NM_021213	NP_001095872	Q9UKL6	PPCT_HUMAN	Homo sapiens phosphatidylcholine transfer protein (PCTP), transcript variant 1, mRNA.	149	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			AGGTCTGGGGTGATCCGGGTG	0.597000														15			4		0	0	0.009096	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434112	22434112	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22434112C>T	uc021rpm.1	+	1	203	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		TTCAATACTTCATGTGGTACA	0.463000														74			14		0	0	0.001855	0	0
PRG4	10216	broad.mit.edu	37	1	186276717	186276717	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:186276717G>A	uc001gru.4	+	6	1917	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K581K|PRG4_uc009wyl.3_Silent_p.K529K|PRG4_uc009wym.3_Silent_p.K488K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	622	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCCCCAAGAAGCTCACGC	0.667000														6			5		0	0	0.000602	0	0
C4orf26	152816	broad.mit.edu	37	4	76489650	76489650	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:76489650G>A	uc011cbo.2	+	2	473	c.438G>A	c.(436-438)gaG>gaA	p.E146E	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_3'UTR	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGAAAGCTGAGAGGGAAGAGA	0.378000														77			11		0	0	0.013537	0	0
GBP7	388646	broad.mit.edu	37	1	89613373	89613373	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:89613373T>C	uc001dna.2	-	7	1381	c.1242A>G	c.(1240-1242)tcA>tcG	p.S414S	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	414						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCAAGAGCTCTGAAAGCCGCT	0.428000														108			21		0	0	0.010504	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:125261995C>T	uc010flu.3	+	7	1553	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R396*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T397T(1)		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)		TTTCCAGTTTCGAACATGGAA	0.552000														43			9		0	0	0.008291	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558382	140558382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140558382G>A	uc011dai.2	+	0	1012	c.767G>A	c.(766-768)aGt>aAt	p.S256N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGAGGACAGTCCAATAAGC	0.458000														107			23		0	0	0.005443	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412625	38412625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:38412625G>A	uc003jlc.2	+	10	1715	c.1369G>A	c.(1369-1371)Gtt>Att	p.V457I	EGFLAM_uc003jlb.2_Missense_Mutation_p.V457I|EGFLAM_uc003jle.2_Missense_Mutation_p.V223I|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	457	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGAACTGGGGTTGCCATCAT	0.483000														54			11		0	0	0.013537	0	0
TPTE	7179	broad.mit.edu	37	21	10933925	10933925	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:10933925G>A	uc002yip.1	-	16	1322	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F300F|TPTE_uc002yir.1_Silent_p.F280F|TPTE_uc010gkv.1_Silent_p.F180F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	318	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTCCTTGGTGAAAACCACCA	0.328000														228			20		0	0	0.014323	0	0
IL17F	112744	broad.mit.edu	37	6	52103617	52103617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:52103617C>T	uc003pam.1	-	1	236	c.165G>A	c.(163-165)atG>atA	p.M55I	IL17F_uc003pal.1_Missense_Mutation_p.M1I	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	55					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGTCAAGCTTCATACTACCTC	0.502000														33			27		0	0	0.005443	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218091	7218091	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:7218091G>A	uc009xio.2	-	16	1936	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	SFMBT2_uc001ijn.2_Silent_p.I615I|SFMBT2_uc010qay.2_Silent_p.I450I	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	615					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGTCCGTACGATTTTGACCA	0.453000														51			9		0	0	0.006214	0	0
MYH4	4622	broad.mit.edu	37	17	10350414	10350414	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10350414G>A	uc002gmn.3	-	34	5196	c.5085C>T	c.(5083-5085)tcC>tcT	p.S1695S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1695					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1694A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCGTTCCAGGGATGCCCTGA	0.517000														39			9		0	0	0.008291	0	0
LOC646214	646214	broad.mit.edu	37	15	21937005	21937005	+	RNA	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:21937005C>T	uc010tzj.1	-	0		c.3735G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCCTTCCATTCCCAAAAGTAC	0.473000														141			6		0	0	0.001168	0	0
SLC22A5	6584	broad.mit.edu	37	5	131728290	131728290	+	Missense_Mutation	SNP	C	T	T	rs72552735		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:131728290C>T	uc003kwx.4	+	8	1769	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	SLC22A5_uc003kww.4_Missense_Mutation_p.P478L|SLC22A5_uc010jdr.1_Missense_Mutation_p.P98L	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	478					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTGTCTCCCTACTTCGTT	0.542000														18			8		0	0	0.004482	0	0
C15orf2	23742	broad.mit.edu	37	15	24921455	24921455	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:24921455G>A	uc001ywo.3	+	0	915	c.441G>A	c.(439-441)gaG>gaA	p.E147E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	147					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCTCCTGGAGGAGACCGAGG	0.607000														27			6		0	0	0.001984	0	0
HRH1	3269	broad.mit.edu	37	3	11301561	11301562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:11301561_11301562CC>TT	uc010hdr.3	+	1	1180_1181	c.838_839CC>TT	c.(838-840)ccc>TTc	p.P280F	HRH1_uc010hds.3_Missense_Mutation_p.P280F|HRH1_uc010hdt.3_Missense_Mutation_p.P280F|HRH1_uc003bwb.4_Missense_Mutation_p.P280F|HRH1_uc021wtb.1_Missense_Mutation_p.P280F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	280					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)	ATCCCAAACCCCCAAGGAGATG	0.495000														43			6		0	0	0.004672	0	0
DDR2	4921	broad.mit.edu	37	1	162740135	162740135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:162740135C>T	uc001gcf.3	+	12	1802	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	DDR2_uc001gcg.3_Missense_Mutation_p.S446F	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	446					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCAGCCTTTCCCTGCCAAGT	0.493000														89			30		0	0	0.012213	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69535692C>T	uc021xow.1	-	0	803	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000														72			24		0	0	0.014323	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366011	7366011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7366011G>A	uc002ghc.4	-	3	2540	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	ZBTB4_uc002ghd.4_Missense_Mutation_p.R764C	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGTAAAGCGGGTGGAGGGC	0.706000														62			14		0	0	0.002450	0	0
CDR1	1038	broad.mit.edu	37	X	139866447	139866447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:139866447C>T	uc004fbg.1	-	0	277	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	29	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAACAAAGGT	0.443000														158			40		0	0	0.013114	0	0
BMP5	653	broad.mit.edu	37	6	55739532	55739532	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:55739532C>T	uc003pcq.3	-	0	844	c.132G>A	c.(130-132)cgG>cgA	p.R44R	BMP5_uc011dxf.2_Silent_p.R44R	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	44					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R44L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCGTGGTTCCGTAGTCTTC	0.458000														75			12		0	0	0.010729	0	0
FGF13	2258	broad.mit.edu	37	X	137717626	137717627	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:137717626_137717627GG>AA	uc004fam.3	-	3	1254_1255	c.592_593CC>TT	c.(592-594)cca>TTa	p.P198L	FGF13_uc004fan.3_Missense_Mutation_p.P145L|FGF13_uc011mwi.2_Missense_Mutation_p.P179L|FGF13_uc004faq.3_Missense_Mutation_p.P208L|FGF13_uc004far.3_Missense_Mutation_p.P179L|FGF13_uc011mwj.2_Missense_Mutation_p.P208L|FGF13_uc011mwk.2_Missense_Mutation_p.P152L	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	198					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTCAGTGGTTTAGGCAGA	0.391000														65			21		0	0	0.004672	0	0
GLRB	2743	broad.mit.edu	37	4	158057765	158057765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:158057765G>A	uc003ipj.2	+	4	644	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GLRB_uc021xtp.1_Missense_Mutation_p.E148K|GLRB_uc021xtq.1_Missense_Mutation_p.E148K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	148					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGCAAATGAAAAAAGTGC	0.393000														75			24		0	0	0.005443	0	0
BUB1	699	broad.mit.edu	37	2	111399362	111399362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:111399362G>A	uc002tgc.3	-	20	2594	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	BUB1_uc010yxh.2_Missense_Mutation_p.P808S|BUB1_uc010fkb.3_Missense_Mutation_p.P828S	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	828	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATTCCCAGGGGTTGGCAGGC	0.403000														90			33		0	0	0.004289	0	0
LARP1	23367	broad.mit.edu	37	5	154092534	154092534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:154092534G>A	uc003lvo.3	+	0	73	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	280							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCTCACCCAGAGCTGGATTT	0.592000														49			7		0	0	0.003080	0	0
AKAP12	9590	broad.mit.edu	37	6	151670948	151670948	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:151670948G>A	uc011eep.2	+	3	1662	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	AKAP12_uc003qoe.3_Silent_p.E474E|AKAP12_uc003qof.3_Silent_p.E376E|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.E369E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	474	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTTCCGGAGAGGACCCTACAC	0.532000														38			17		0	0	0.004007	0	0
RNF25	64320	broad.mit.edu	37	2	219528774	219528774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219528774C>T	uc002vit.3	-	9	1374	c.1286G>A	c.(1285-1287)gGt>gAt	p.G429D	RNF25_uc010fvw.3_Missense_Mutation_p.G317D	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	429					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAGGAAGAACCGGGTGTCCG	0.667000														105			26		0	0	0.004656	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286633	55286633	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55286633T>C	uc010erz.1	+	3	425	c.387T>C	c.(385-387)ccT>ccC	p.P129P	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Silent_p.P129P	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	129					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATGAGAAACCTTCTCTCTCAG	0.547000														79			28		0	0	0.006999	0	0
ITPKB	3707	broad.mit.edu	37	1	226924549	226924549	+	Missense_Mutation	SNP	G	A	A	rs137905849		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:226924549G>A	uc010pvo.2	-	1	951	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ITPKB_uc001hqh.3_Missense_Mutation_p.S204F	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	204							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A203T(1)|p.A203A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTCCCCCCAGGACTTTGTCCT	0.647000														53			19		0	0	0.007413	0	0
CLK1	1195	broad.mit.edu	37	2	201721506	201721506	+	Missense_Mutation	SNP	G	A	A	rs146248641		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:201721506G>A	uc002uwe.2	-	8	1137	c.956C>T	c.(955-957)cCa>cTa	p.P319L	CLK1_uc010zhi.1_Missense_Mutation_p.P361L|CLK1_uc002uwf.2_Missense_Mutation_p.P93L|CLK1_uc002uwg.2_Missense_Mutation_p.P168L	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	319	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTAATATCTGGATTTATTAA	0.318000														30			9		0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167160792	167160792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:167160792G>A	uc010fpl.3	-	5	985	c.644C>T	c.(643-645)aCt>aTt	p.T215I	SCN9A_uc002udr.1_Missense_Mutation_p.T86I|SCN9A_uc002uds.1_Intron|SCN9A_uc002udt.1_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	215						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R214G(1)|p.R214*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACTCTGAAAGTTCGAAGAGC	0.338000														19			4		0	0	0.000602	0	0
MCF2L2	23101	broad.mit.edu	37	3	182937681	182937681	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:182937681A>C	uc003fli.1	-	20	2423	c.2333T>G	c.(2332-2334)aTg>aGg	p.M778R		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	778	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTCTATCTCCATATCTTCAGG	0.363000														45			5		0	0	0.001168	0	0
HOOK2	29911	broad.mit.edu	37	19	12874531	12874531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:12874531G>A	uc002muy.2	-	20	2060	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	HOOK2_uc002muz.2_Missense_Mutation_p.S628F	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding	p.S630A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGTCCTCAGGGAATGGAGTTC	0.602000														52			10		0	0	0.008291	0	0
RGPD3	653489	broad.mit.edu	37	2	107084678	107084678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:107084678G>A	uc010ywi.1	-	0	124	c.67C>T	c.(67-69)Cga>Tga	p.R23*		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	23					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCACCTTTCGAGGCGACGGG	0.716000														8			5		0	0	0.000602	0	0
GNAZ	2781	broad.mit.edu	37	22	23438161	23438161	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:23438161C>T	uc002zwu.1	+	1	816	c.279C>T	c.(277-279)atC>atT	p.I93I	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	93						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCCTCAGGATCGACTTCCACA	0.642000														87			25		0	0	0.004656	0	0
OR4C3	256144	broad.mit.edu	37	11	48347004	48347004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:48347004G>A	uc010rhv.2	+	0	512	c.512G>A	c.(511-513)gGg>gAg	p.G171E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATGCTTGTAGGGGTGGCTTGG	0.527000														55			16		0	0	0.003163	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703514	55703514	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:55703514C>T	uc021tio.1	+	1	363	c.312C>T	c.(310-312)atC>atT	p.I104I	SLC6A2_uc002eif.3_Silent_p.I104I|SLC6A2_uc002eig.3_Silent_p.I104I|SLC6A2_uc002eii.3_5'Flank	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	104					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCTTATCATCGCGGGGATGC	0.572000														46			4		0	0	0.009096	0	0
ESPNP	284729	broad.mit.edu	37	1	17033787	17033787	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:17033787T>C	uc001azn.1	-	3	692	c.578A>G	c.(577-579)aAc>aGc	p.N193S	ESPNP_uc010ocj.1_3'UTR					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TCGTACCAGGTTCTCCACCGT	0.647000														10			4		0	0	0.001168	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637187	124637187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124637187G>A	uc001qba.1	-	3	1588	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	MSANTD2_uc001qaz.1_Missense_Mutation_p.S470F|MSANTD2_uc010sap.1_Missense_Mutation_p.S242F|MSANTD2_uc001qay.1_Missense_Mutation_p.S292F	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	522																	GGATTTGGGGGAAACTCCGGG	0.408000														53			10		0	0	0.010729	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654985	15654985	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15654985T>G	uc002nbh.4	+	9	1198	c.1031T>G	c.(1030-1032)aTc>aGc	p.I344S		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	344						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.I344I(1)|p.G343G(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCCAGTGGGATCTCTTGGATG	0.507000														61			17		0	0	0.006122	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313571	233313571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233313571G>A	uc001hvl.2	-	16	3485	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1084						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCTTCTTGGGGAGAGGGTCA	0.443000														36			6		0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141526857	141526857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:141526857C>T	uc002tvj.1	-	34	6655	c.5683G>A	c.(5683-5685)Gaa>Aaa	p.E1895K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1895					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)		TCACTTGGTTCAAGAGGTATT	0.413000										TSP Lung(27;0.18)				19			7		0	0	0.001984	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749546	49749546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:49749546C>T	uc001vcm.3	+	12	1704	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	FNDC3A_uc001vcn.3_Missense_Mutation_p.P467S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.P393S|FNDC3A_uc001vcq.3_Missense_Mutation_p.P411S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	467	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGGCTGTGCTCCTTCTATGCC	0.383000														23			8		0	0	0.008291	0	0
TGFBI	7045	broad.mit.edu	37	5	135396580	135396580	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:135396580A>C	uc003lbf.4	+	13	2022	c.1861A>C	c.(1861-1863)Aca>Cca	p.T621P	TGFBI_uc003lbg.4_Missense_Mutation_p.T354P|TGFBI_uc003lbh.4_Missense_Mutation_p.T447P|TGFBI_uc011cyb.2_Missense_Mutation_p.T447P|TGFBI_uc010jee.3_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	621	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCATGGCCACAAATGGCGT	0.473000														10			5		0	0	0.001984	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185252	127185252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:127185252C>T	uc004eum.3	-	0	1131	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	312						cytoplasm|cytoskeleton		p.E311V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGAGCCTTTCCTCCAGCCCA	0.507000														71			13		0	0	0.013537	0	0
SCAF8	22828	broad.mit.edu	37	6	155153768	155153768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:155153768C>T	uc003qqa.3	+	20	3287	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	TIAM2_uc003qqb.3_5'Flank|SCAF8_uc011efj.2_Missense_Mutation_p.P1085S|SCAF8_uc011efk.2_Missense_Mutation_p.P1064S|SCAF8_uc003qpz.3_Missense_Mutation_p.P1019S|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	1019	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTACCGGTTTCCTCCTATAGA	0.468000														38			13		0	0	0.001855	0	0
KCNK5	8645	broad.mit.edu	37	6	39159415	39159415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:39159415C>T	uc003oon.3	-	4	1115	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	251					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGTGGACTTCCACAAACATG	0.587000														83			11		0	0	0.010729	0	0
HYDIN	54768	broad.mit.edu	37	16	70954782	70954782	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:70954782C>T	uc002ezr.3	-	45	7645	c.7494G>A	c.(7492-7494)caG>caA	p.Q2498Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2499										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAAGGGGACCTGGCGCTGGT	0.667000														10			5		0	0	0.000602	0	0
PDCD11	22984	broad.mit.edu	37	10	105185072	105185072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:105185072C>T	uc001kwy.1	+	19	3182	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1032					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGAAGCACACCCTCTCCATC	0.522000														42			14		0	0	0.003163	0	0
FOLR4	390243	broad.mit.edu	37	11	94040624	94040624	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:94040624C>T	uc021qou.1	+	3	519	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	173						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCAGTGCCTCCCTTTCTCCC	0.597000														37			7		0	0	0.001984	0	0
FER1L6	654463	broad.mit.edu	37	8	125061950	125061950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:125061950G>A	uc003yqw.3	+	21	3033	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	943						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CATCTTTTGTGGGAATCTCTC	0.522000														62			9		0	0	0.006214	0	0
GON4L	54856	broad.mit.edu	37	1	155630427	155630427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155630427G>A	uc010pgi.2	-	9	1880	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L	GON4L_uc021paz.1_Missense_Mutation_p.P405L|GON4L_uc010pgg.2_Missense_Mutation_p.P310L|GON4L_uc010pgh.2_Missense_Mutation_p.P414L|GON4L_uc009wqt.3_Missense_Mutation_p.P394L|GON4L_uc001flh.3_Missense_Mutation_p.P543L|GON4L_uc001fll.3_Missense_Mutation_p.P425L|GON4L_uc001flk.3_Missense_Mutation_p.P414L|GON4L_uc001flm.3_Missense_Mutation_p.P414L|GON4L_uc009wqu.3_Missense_Mutation_p.P258L|GON4L_uc009wqv.3_Missense_Mutation_p.P142L|GON4L_uc009wqw.3_Missense_Mutation_p.P394L|GON4L_uc001flj.3_Missense_Mutation_p.P405L|GON4L_uc001fli.3_Missense_Mutation_p.P425L|GON4L_uc001flo.3_Missense_Mutation_p.P359L|GON4L_uc001fln.3_Missense_Mutation_p.P471L|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.P425L	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1014	Asp-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.E563*(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTGAAGCTGGGCTGGAGAGA	0.557000														89			26		0	0	0.005443	0	0
MCHR1	2847	broad.mit.edu	37	22	41077399	41077399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:41077399C>T	uc003ayz.3	+	1	1004	c.736C>T	c.(736-738)Cct>Tct	p.P246S	MCHR1_uc003aza.3_Missense_Mutation_p.P135S	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	246					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	p.P246P(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCATCACCCCTGTGTGGCT	0.617000														53			12		0	0	0.010729	0	0
ADAM29	11086	broad.mit.edu	37	4	175898164	175898164	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:175898164G>A	uc003iuc.3	+	4	2158	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K	ADAM29_uc003iud.3_Silent_p.K496K|ADAM29_uc010irr.3_Silent_p.K496K|ADAM29_uc011cki.2_Silent_p.K496K|ADAM29_uc021xuo.1_Silent_p.K496K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	496	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCTATGAAAAGAGCTGTCATG	0.458000														82			16		0	0	0.004007	0	0
OR5W2	390148	broad.mit.edu	37	11	55681168	55681168	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55681168C>T	uc010rir.2	-	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGCCTCTTTCACATCCTTGT	0.328000														10			6		0	0	0.001168	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695555	219695555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219695555C>T	uc002vjb.1	-	2	162	c.143G>A	c.(142-144)aGa>aAa	p.R48K	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.R48K|PRKAG3_uc010zko.1_Missense_Mutation_p.R48K	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	48					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.R48I(2)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACGGATTCTTTCTGAGCT	0.567000														61			20		0	0	0.003954	0	0
NBPF15	284565	broad.mit.edu	37	1	148591246	148591246	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:148591246G>A	uc001esb.2	+	17	2473	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	NBPF15_uc001esc.2_Silent_p.Q437Q	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	437	NBPF 4.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AAGTCTTGCAGGACTCACTGG	0.463000														53			10		0	0	0.003163	0	0
ACAP1	9744	broad.mit.edu	37	17	7252386	7252386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7252386C>T	uc002ggd.2	+	17	1957	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	KCTD11_uc002gge.4_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	584	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CATCCTCCATCTCTTCCCACC	0.602000														45			7		0	0	0.003080	0	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:197390665C>T	uc001gtz.3	+	5	1916	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_uc010poz.2_Silent_p.F500F|CRB1_uc009wza.3_Silent_p.F457F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F569F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F50F|CRB1_uc001gub.1_Silent_p.F218F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	569	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F569F(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGCATTTCGTGGAGGTAA	0.453000														77			26		0	0	0.003954	0	0
KRT82	3888	broad.mit.edu	37	12	52799828	52799828	+	Silent	SNP	G	A	A	rs142775418		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:52799828G>A	uc001sai.1	-	0	349	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	78	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTCGGTACCCGAAGCCAGGCA	0.652000														26			6		0	0	0.001168	0	0
CIT	11113	broad.mit.edu	37	12	120222828	120222828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:120222828G>A	uc001txj.2	-	10	1393	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.S446F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	446					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTTTCCATGGAGCTAGTCTT	0.507000														21			13		0	0	0.013537	0	0
OR14I1	401994	broad.mit.edu	37	1	248845249	248845249	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248845249G>A	uc001ieu.1	-	0	357	c.357C>T	c.(355-357)gaC>gaT	p.D119D		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAACATAGCGGTCATAAGACA	0.502000														26			10		0	0	0.008291	0	0
OLFM4	10562	broad.mit.edu	37	13	53624636	53624636	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:53624636G>A	uc001vhl.3	+	4	1359	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	421	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TAAACACTTGGTATACCAAGC	0.413000														48			9		0	0	0.010729	0	0
ANK3	288	broad.mit.edu	37	10	61956324	61956324	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:61956324G>A	uc001jky.3	-	14	2087	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	ANK3_uc010qih.2_Silent_p.L566L|ANK3_uc001jkz.4_Silent_p.L577L|ANK3_uc001jlb.1_Silent_p.L112L|ANK3_uc001jlc.1_Silent_p.L244L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	583					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTAGCAGGAGATTGGCGA	0.418000														37			11		0	0	0.002450	0	0
CLPS	1208	broad.mit.edu	37	6	35762990	35762990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:35762990G>A	uc003ole.2	-	2	328	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CLPS_uc021yyz.1_Missense_Mutation_p.T77I|CLPS_uc003olf.2_Missense_Mutation_p.T50I	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	91					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GCCCACGATGGTCTTGTCTCC	0.567000														32			12		0	0	0.013537	0	0
AADACL4	343066	broad.mit.edu	37	1	12711285	12711285	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:12711285G>A	uc001auf.3	+	1	312	c.312G>A	c.(310-312)ccG>ccA	p.P104P		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	104						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		TGTTCCAGCCGAAGGCAGCAT	0.532000														28			19		0	0	0.012319	0	0
DCTN1	1639	broad.mit.edu	37	2	74598270	74598271	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:74598270_74598271GG>AA	uc002skx.3	-	8	996_997	c.678_679CC>TT	c.(676-681)gacctg>gaTTtg	p.226_227DL>DL	DCTN1_uc002skv.3_Silent_p.92_93DL>DL|DCTN1_uc002sku.3_Silent_p.92_93DL>DL|DCTN1_uc002skw.2_Silent_p.219_220DL>DL|DCTN1_uc010ffd.3_Silent_p.206_207DL>DL|DCTN1_uc002sky.3_Silent_p.189_190DL>DL	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	226					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCTCCTCCAGGTCCCGCACCT	0.569000														177			40		0	0	0.004672	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247248	142247248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:142247248C>T	uc003vyd.4	-	1	233	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GCACCCGTGCCTTGGAAGTAA	0.542000														45			12		0	0	0.013537	0	0
WDR44	54521	broad.mit.edu	37	X	117527160	117527162	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:117527160_117527162CC>TA	uc004eqn.3	+	3	1183_1185	c.752_754CC>TA	c.(751-756)tctcga>tTAga	p.251_252SR>L	WDR44_uc004eqo.3_Missense_Mutation_p.251_252SR>L|WDR44_uc011mtr.2_Missense_Mutation_p.226_227SR>L|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	251	Pro-rich.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm		p.R252R(1)|p.P250H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCACCTCCTTCTCGACCTGCTCC	0.463000														125			21		0	0	0.004672	0	0
DENND1B	163486	broad.mit.edu	37	1	197479747	197479747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:197479747G>A	uc021pgu.1	-	22	2509	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AACAAAAGTCGATGAATGCCG	0.423000														58			16		0	0	0.003163	0	0
PDE4D	5144	broad.mit.edu	37	5	58511677	58511677	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:58511677G>A	uc003jsa.2	-	1	745	c.573C>T	c.(571-573)ttC>ttT	p.F191F	PDE4D_uc003jrx.2_Silent_p.F55F|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Silent_p.F127F|PDE4D_uc003jsb.3_Silent_p.F130F|PDE4D_uc003jsc.3_Silent_p.F127F|PDE4D_uc003jrv.2_Silent_p.F61F|PDE4D_uc003jrw.2_Silent_p.F69F|PDE4D_uc010iwi.1_Silent_p.F23F	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	191					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	ATCGATACAGGAAGGACTCCC	0.527000														40			5		0	0	0.000602	0	0
LOC440563	440563	broad.mit.edu	37	1	13183595	13183595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:13183595C>T	uc010obg.2	-	1	521	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	93						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.498000														37			6		0	0	0.001984	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428954	19428954	+	RNA	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:19428954C>A	uc010tcj.1	-	0		c.17156G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTCCTTTTCCATGGGAAGGT	0.393000														67			5		3.59834e-05	3.72567e-05	0.001168	1	0
SH3RF1	57630	broad.mit.edu	37	4	170028035	170028035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:170028035G>A	uc003isa.1	-	10	2796	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	821						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTCAAGACAGGACCCAGGGAG	0.502000														62			9		0	0	0.004482	0	0
DCTD	1635	broad.mit.edu	37	4	183812630	183812630	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:183812630C>T	uc003ivf.3	-	6	633	c.459_splice	c.e6-1	p.R153_splice	DCTD_uc003ivg.3_Splice_Site_p.R164_splice|DCTD_uc010irw.3_Splice_Site_p.R94_splice|DCTD_uc003ivh.3_Splice_Site_p.R94_splice	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	153					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		GTATGAATTTCCTAAAAATAA	0.328000														55			12		0	0	0.010729	0	0
AGXT2	64902	broad.mit.edu	37	5	35010122	35010122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35010122C>T	uc003jjf.3	-	11	1564	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	AGXT2_uc003jje.1_Missense_Mutation_p.E94K|AGXT2_uc011com.2_Missense_Mutation_p.E366K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	441					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCACCATTTCTATGCCTATC	0.453000														34			4		0	0	0.009096	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853762	51853762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:51853762C>T	uc001rys.1	+	7	1061	c.883C>T	c.(883-885)Cct>Tct	p.P295S	SLC4A8_uc010sni.2_Missense_Mutation_p.P242S|SLC4A8_uc001rym.3_Missense_Mutation_p.P242S|SLC4A8_uc001ryn.3_Missense_Mutation_p.P242S|SLC4A8_uc001ryo.2_Missense_Mutation_p.P242S|SLC4A8_uc001ryp.1_Missense_Mutation_p.P242S|SLC4A8_uc010snj.2_Missense_Mutation_p.P322S|SLC4A8_uc001ryq.4_Missense_Mutation_p.P295S|SLC4A8_uc001ryr.3_Missense_Mutation_p.P295S|SLC4A8_uc010snk.2_Missense_Mutation_p.P242S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	295					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAAAAAATTCCTACTGGGGC	0.423000														100			19		0	0	0.008871	0	0
FZD10	11211	broad.mit.edu	37	12	130648678	130648678	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:130648678C>T	uc001uii.3	+	0	1675	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	397					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCACCGGCTTCGTGCTCATTC	0.642000														43			13		0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48431653	48431653	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:48431653C>T	uc003toq.2	+	37	11814	c.11790C>T	c.(11788-11790)ctC>ctT	p.L3930L	ABCA13_uc010kys.1_Silent_p.L1004L|ABCA13_uc003tos.1_Silent_p.L756L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3930	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.S3930F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGACAACCTCACCGTCCGGG	0.507000														33			7		0	0	0.004482	0	0
GPR174	84636	broad.mit.edu	37	X	78426611	78426611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:78426611G>A	uc004edg.1	+	0	143	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	36						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I35K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGTCTCATAGGGAATATATTA	0.373000										HNSCC(63;0.18)				11			7		0	0	0.003080	0	0
CXCR2	3579	broad.mit.edu	37	2	219000288	219000288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219000288C>T	uc002vgz.2	+	3	974	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CXCR2_uc002vha.2_Missense_Mutation_p.A255V|CXCR2_uc002vhb.2_Missense_Mutation_p.A255V|CXCR2_uc021vwp.1_Missense_Mutation_p.A255V	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	255					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTCATCTTTGCTGTCGTCCTC	0.597000														111			35		0	0	0.005524	0	0
CACNA1S	779	broad.mit.edu	37	1	201042677	201042677	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:201042677C>T	uc001gvv.3	-	15	2384	c.2157_splice	c.e15+1	p.K719_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	719					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)	AGGTGCTCACCTTGGCAGTGG	0.572000														246			86		0	0	0.014410	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543123	34543123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:34543123C>T	uc001zhw.3	-	9	1633	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	SLC12A6_uc001zhv.3_Missense_Mutation_p.G439E|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.G475E|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.G431E|SLC12A6_uc001zib.3_Missense_Mutation_p.G481E|SLC12A6_uc001zic.3_Missense_Mutation_p.G490E|SLC12A6_uc010bau.3_Missense_Mutation_p.G490E|SLC12A6_uc001zid.3_Missense_Mutation_p.G431E|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Missense_Mutation_p.G302E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	490					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAAGAAGATTCCCACCAGAAG	0.428000														31			4		0	0	0.009096	0	0
FFAR3	2865	broad.mit.edu	37	19	35850335	35850335	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:35850335C>T	uc002nzd.3	+	1	618	c.543C>T	c.(541-543)ctC>ctT	p.L181L	FFAR3_uc021usm.1_Silent_p.L181L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	181						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TAGCCATCCTCCTGCCCGTGC	0.612000														22			4		0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032123	10032123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:10032123C>T	uc010uym.2	-	3	1010	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GRIN2A_uc002czo.4_Missense_Mutation_p.D234N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D77N|GRIN2A_uc002czr.4_Missense_Mutation_p.D234N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	234					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)	ACAGCCTCGTCTTTGGAACAG	0.512000														38			14		0	0	0.002450	0	0
ACOT2	10965	broad.mit.edu	37	14	74009759	74009759	+	Silent	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:74009759A>G	uc001xol.1	+	2	864	c.666A>G	c.(664-666)aaA>aaG	p.K222K	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Intron	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	284					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.G221G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTCAGGTAAAAGGTCCAGGAG	0.502000														38			3		0	0	0.009096	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388219	46388219	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:46388219G>C	uc002pds.1	-	0	1158	c.814C>G	c.(814-816)Ctg>Gtg	p.L272V		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AAGAGCTTCAGCTCGAACTCG	0.622000														41			9		0	0	0.004482	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564728	100564729	+	RNA	DNP	CT	TC	TC			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:100564728_100564729CT>TC	uc021rcm.1	-	1		c.269_270AG>GA			GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		TAACTGCTCCCTTAGGGCTCCC	0.485000														49			11		0	0	0.004672	0	0
GPR83	10888	broad.mit.edu	37	11	94129668	94129668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:94129668C>T	uc001pet.2	-	1	582	c.410G>A	c.(409-411)tGg>tAg	p.W137*		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	137						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.W137*(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCCAAATATCCATGTGCTGTT	0.542000														26			12		0	0	0.001855	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160755202	160755202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:160755202G>A	uc002ubb.4	-	1	537	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	LY75-CD302_uc010fos.3_Missense_Mutation_p.H155Y|LY75-CD302_uc002ubc.4_Missense_Mutation_p.H155Y|LY75-CD302_uc010fot.2_Missense_Mutation_p.H155Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	155	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TACTCACCATGATAAGGCTGG	0.448000														55			11		0	0	0.003163	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969392	140969392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:140969392C>T	uc011mwp.2	+	3	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	240	MAGE 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)					TTTGGCATTTCCCTGACAGAA	0.473000														85			19		0	0	0.007413	0	0
YBX1	4904	broad.mit.edu	37	1	43166637	43166637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:43166637C>T	uc001chs.3	+	6	1097	c.926C>T	c.(925-927)cCa>cTa	p.P309L		NM_004559	NP_004550	P67809	YBOX1_HUMAN	Homo sapiens Y box binding protein 1 (YBX1), mRNA.	309					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|U12-type spliceosomal complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule	RNA binding|double-stranded DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGATCCACCAGCTGAGAAT	0.567000														19			8		0	0	0.006214	0	0
ERF	2077	broad.mit.edu	37	19	42753161	42753161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42753161G>A	uc002ote.4	-	3	1261	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	ERF_uc002otd.4_Missense_Mutation_p.S99F	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	368	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGAAGAAGAAGAGGATGACGA	0.687000														77			15		0	0	0.004007	0	0
LILRA1	11024	broad.mit.edu	37	19	55086898	55086898	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55086898G>A	uc010ern.3	+	5	1300	c.831G>A	c.(829-831)caG>caA	p.Q277Q	LILRA1_uc002qgg.4_Silent_p.Q277Q|LILRA1_uc002qgf.3_Silent_p.Q277Q|LILRA1_uc010yfe.1_Silent_p.Q277Q|LILRA1_uc010yff.1_Silent_p.Q265Q|LILRA1_uc010ero.3_Silent_p.Q265Q|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	279	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGCTCTCCCAGGCCAACTTCA	0.622000														50			20		0	0	0.008871	0	0
CRNN	49860	broad.mit.edu	37	1	152382907	152382907	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152382907C>T	uc001ezx.2	-	2	725	c.651G>A	c.(649-651)caG>caA	p.Q217Q		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	217	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTCTGTCCTGTTCCCTGG	0.577000														156			66		0	0	0.014410	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491797	4491797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:4491797C>T	uc002mao.3	+	5	736	c.643C>T	c.(643-645)Cca>Tca	p.P215S	HDGFRP2_uc002map.3_Missense_Mutation_p.P215S|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	215	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGTCCGGGCGCCACGGAGGGG	0.627000														58			14		0	0	0.003163	0	0
ELANE	1991	broad.mit.edu	37	19	852888	852888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:852888C>T	uc002lqb.3	+	1	118	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	27					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACCGCGCTGGCCTCGGAGATT	0.726000														16			3		0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82579080	82579080	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:82579080G>A	uc003uhx.2	-	5	11113	c.10824C>T	c.(10822-10824)tcC>tcT	p.S3608S	PCLO_uc003uhv.2_Silent_p.S3608S|PCLO_uc010lec.3_Silent_p.S573S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3539					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						GCTGTACTGTGGAATCTGCCC	0.493000														40			13		0	0	0.013537	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701967	96701967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:96701967G>A	uc001kka.4	+	2	375	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C9_uc009xut.3_Missense_Mutation_p.G117E|CYP2C9_uc001kjz.3_Missense_Mutation_p.G117E	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	117					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTCAGCAATGGAAAGAAATGG	0.522000														26			9		0	0	0.010729	0	0
THSD7B	80731	broad.mit.edu	37	2	137814542	137814542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:137814542C>T	uc002tva.1	+	1	599	c.599C>T	c.(598-600)tCc>tTc	p.S200F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S90F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCCCATTTCCTGTCCTCTT	0.458000														125			27		0	0	0.006320	0	0
OR5K1	26339	broad.mit.edu	37	3	98189118	98189118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:98189118G>A	uc003dsm.3	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAAAGAGGGAAGGGCCAAA	0.343000														35			14		0	0	0.001855	0	0
GPR179	440435	broad.mit.edu	37	17	36484681	36484681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:36484681C>T	uc002hpz.3	-	10	4792	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1591						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGACAGATTTCTGTTTTGGCA	0.502000														106			21		0	0	0.002780	0	0
TAF1L	138474	broad.mit.edu	37	9	32633900	32633900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:32633900G>A	uc003zrg.1	-	0	1768	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	560					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGCCCAAGAGAATTCGACTC	0.448000														92			40		0	0	0.006999	0	0
OR2W1	26692	broad.mit.edu	37	6	29012544	29012544	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29012544T>G	uc003nlw.2	-	0	409	c.409A>C	c.(409-411)Aac>Cac	p.N137H	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATGTGGGTTCATGACTACA	0.398000														30			5		0	0	0.000602	0	0
MEFV	4210	broad.mit.edu	37	16	3304734	3304734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:3304734C>T	uc002cun.1	-	1	374	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	112					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCTTGTTCTCCCCCAGGGAG	0.607000														36			9		0	0	0.008291	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179163	38179163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:38179163C>T	uc002rqn.2	+	1	931	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	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						TCCACAGCATCCCTCTCAAAG	0.388000														44			8		0	0	0.003080	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560026	32560026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:32560026C>T	uc001wrl.3	+	1	390	c.151C>T	c.(151-153)Cca>Tca	p.P51S	ARHGAP5_uc001wrm.3_Missense_Mutation_p.P51S|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P51S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	51					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGAATATTATCCAGAGCATAC	0.388000														34			10		0	0	0.008291	0	0
METTL15	196074	broad.mit.edu	37	11	28311899	28311899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:28311899C>T	uc001msh.2	+	4	1009	c.554C>T	c.(553-555)tCc>tTc	p.S185F	METTL15_uc001msg.2_Missense_Mutation_p.S185F|METTL15_uc001mse.2_Missense_Mutation_p.S185F	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	Homo sapiens methyltransferase like 15 (METTL15), transcript variant 1, mRNA.	185							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGAGGTTTTTCCCTTCGGAAA	0.408000														95			22		0	0	0.004656	0	0
INTS1	26173	broad.mit.edu	37	7	1527398	1527399	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:1527398_1527399GG>AA	uc003skn.2	-	18	2614_2615	c.2513_2514CC>TT	c.(2512-2514)ccc>cTT	p.P838L	INTS1_uc003skp.1_Missense_Mutation_p.P185L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	838					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGCGTACTGGGGGTCCAGGCT	0.693000														13			6		0	0	0.004672	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296051	233296051	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233296051C>T	uc001hvl.2	-	18	3730	c.3495G>A	c.(3493-3495)gaG>gaA	p.E1165E	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1165						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTGATGATACTCTTTGTTTT	0.443000														34			10		0	0	0.010729	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542123	40542123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:40542123G>A	uc002omu.3	-	4	708	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H67Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAAATTTCTGA	0.373000														30			5		0	0	0.000602	0	0
CES3	23491	broad.mit.edu	37	16	67003606	67003606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:67003606G>A	uc002eqt.3	+	8	1166	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	CES3_uc010cdz.3_Missense_Mutation_p.E363K|CES3_uc010viw.2_Missense_Mutation_p.E2K	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	363						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGATACAATGGAGCAGATGAG	0.627000														11			4		0	0	0.009096	0	0
MORC2	22880	broad.mit.edu	37	22	31332988	31332988	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:31332988A>T	uc003aje.1	-	16	2713	c.1349T>A	c.(1348-1350)cTg>cAg	p.L450Q		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	512							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CACAGAACTCAGCTGGAAGGG	0.498000														37			6		0	0	0.001984	0	0
WDR31	114987	broad.mit.edu	37	9	116093332	116093332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:116093332G>A	uc004bhe.3	-	3	486	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	WDR31_uc004bhc.3_Missense_Mutation_p.H60Y|WDR31_uc004bhd.3_Intron|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	61										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTATCCATGTGAGCTGGGCTA	0.438000														31			9		0	0	0.004482	0	0
PANX3	116337	broad.mit.edu	37	11	124489648	124489648	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124489648C>T	uc001qah.3	+	3	996	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	332					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TCCTTCTTTTCCTCCGAGCTA	0.438000														33			7		0	0	0.001984	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256386	24256386	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:24256386G>A	uc003xdz.2	+	9	983	c.763_splice	c.e9-1	p.I255_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.I176_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.I176_splice	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	255	Peptidase M12B.				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)		TCTTTCCACAGATATATAACA	0.413000														29			5		0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020298	156020298	+	Silent	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:156020298A>C	uc001fna.3	-	3	549	c.525T>G	c.(523-525)tcT>tcG	p.S175S	UBQLN4_uc010pgx.2_Silent_p.S155S	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	175						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGAAGTTGGCAGAGCCCAGGC	0.592000														49			6		0	0	0.001168	0	0
BATF	10538	broad.mit.edu	37	14	76012890	76012890	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:76012890T>G	uc001xrr.3	+	2	496	c.254T>G	c.(253-255)gTg>gGg	p.V85G		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	85						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		TTCACGTCGGTGCTGAACAGC	0.622000														12			5		0	0	0.000602	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692684	47692684	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:47692684G>A	uc002zir.1	-	7	2292	c.2256C>T	c.(2254-2256)acC>acT	p.T752T		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	752					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.T752S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTGAAACCGGGTGCACTTCT	0.552000														55			14		0	0	0.001855	0	0
DEAF1	10522	broad.mit.edu	37	11	674755	674755	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:674755G>A	uc001lqq.1	-	9	1977	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.V339V	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	428	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TCGGGGGTGGGACCGCCAGCG	0.537000														82			22		0	0	0.003954	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132797	64132797	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:64132797T>C	uc003dmf.3	-	6	1955	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	457						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGTCCTGTCATGGCCAGTGAC	0.557000														72			19		0	0	0.008871	0	0
OR10G4	390264	broad.mit.edu	37	11	123886830	123886830	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123886830C>T	uc010sac.2	+	0	549	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183I(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACCGCCCATCCTGAAACTGG	0.537000														72			30		0	0	0.005524	0	0
DDX20	11218	broad.mit.edu	37	1	112309250	112309250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:112309250G>A	uc001ebs.3	+	10	2561	c.2204G>A	c.(2203-2205)cGg>cAg	p.R735Q	DDX20_uc010owf.2_Missense_Mutation_p.R497Q|DDX20_uc001ebt.3_Missense_Mutation_p.R343Q	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	735					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCAGAGCCGGAGAAACCTA	0.478000														22			6		0	0	0.001168	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853802	22853802	+	Silent	SNP	C	T	T	rs149365181		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:22853802C>T	uc001yuq.2	+	11	1570	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	TUBGCP5_uc001yur.4_Silent_p.I480I|TUBGCP5_uc010axz.1_Silent_p.I67I	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	480					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.I480I(2)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACGAGTGGATCGTGCACGGGC	0.607000														18			4		0	0	0.009096	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361251	70361251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70361251G>A	uc003hek.4	-	0	376	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.S110L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	110					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTACTTGTGAAAAATATGA	0.323000														8			4		0	0	0.009096	0	0
RIC3	79608	broad.mit.edu	37	11	8161542	8161542	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:8161542A>T	uc010rbm.1	-	1	377	c.323T>A	c.(322-324)tTt>tAt	p.F108Y	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Missense_Mutation_p.F58Y|RIC3_uc001mgd.2_Missense_Mutation_p.F108Y|RIC3_uc001mgc.2_Missense_Mutation_p.F108Y|RIC3_uc009yfm.2_Missense_Mutation_p.F108Y|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Missense_Mutation_p.F108Y	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	108						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TATATATAAAAAAATCCCAAA	0.363000														29			9		0	0	0.008291	0	0
TBX18	9096	broad.mit.edu	37	6	85472362	85472362	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:85472362G>A	uc003pkl.1	-	1	397	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	TBX18_uc010kbq.2_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	133					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCGAGGGCAGAGGGGTCCCG	0.697000														26			7		0	0	0.001984	0	0
ZNF45	7596	broad.mit.edu	37	19	44418288	44418288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:44418288G>A	uc002oxu.2	-	3	1399	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	ZNF45_uc002oxw.2_Missense_Mutation_p.H434Y	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	434					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACTCTAAAATGAATGTTAAAA	0.473000														60			28		0	0	0.010818	0	0
SIRPG	55423	broad.mit.edu	37	20	1630035	1630035	+	Silent	SNP	C	T	T	rs150700648	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:1630035C>T	uc002wfm.1	-	1	158	c.93G>A	c.(91-93)gaG>gaA	p.E31E	SIRPG_uc002wfn.1_Silent_p.E31E|SIRPG_uc002wfo.1_Silent_p.E31E	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	31	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCATCTGTAGCTCCTCCTCAC	0.473000														35			12		0	0	0.013537	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124413431C>T	uc010sam.2	-	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000														40			5		0	0	0.000602	0	0
KCND3	3752	broad.mit.edu	37	1	112524895	112524895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:112524895C>T	uc001ebu.1	-	1	934	c.454G>A	c.(454-456)Gac>Aac	p.D152N	KCND3_uc001ebv.1_Missense_Mutation_p.D152N	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	152						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)		TTCTCCGAGTCGTTGTCGTCC	0.632000														16			5		0	0	0.000602	0	0
CABIN1	23523	broad.mit.edu	37	22	24515511	24515511	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:24515511T>C	uc002zzi.1	+	27	4605	c.4478T>C	c.(4477-4479)tTc>tCc	p.F1493S	CABIN1_uc021wnc.1_Missense_Mutation_p.F1443S|CABIN1_uc002zzj.1_Missense_Mutation_p.F1414S|CABIN1_uc002zzl.2_Missense_Mutation_p.F1493S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1493					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGTGGCCTTCCCCCAGGGG	0.667000														34			11		0	0	0.013537	0	0
RTEL1	51750	broad.mit.edu	37	20	62324619	62324619	+	Missense_Mutation	SNP	C	T	T	rs143967591	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:62324619C>T	uc021wge.1	+	28	3145	c.2975C>T	c.(2974-2976)cCg>cTg	p.P992L	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.P992L|RTEL1_uc011abd.2_Missense_Mutation_p.P1016L|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.P769L|RTEL1_uc002yfx.1_Missense_Mutation_p.P237L|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	992					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGGCACAGCCGGTCCTGGAC	0.637000														64			15		0	0	0.006122	0	0
GPR78	27201	broad.mit.edu	37	4	8588793	8588793	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:8588793C>T	uc003glk.3	+	2	1288	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	265					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCGGAGCTCGTGCCCTTCG	0.637000														10			9		0	0	0.004482	0	0
MYO3B	140469	broad.mit.edu	37	2	171256809	171256809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:171256809G>A	uc002ufy.3	+	16	2046	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	MYO3B_uc002ufv.3_Missense_Mutation_p.E622K|MYO3B_uc010fqb.1_Missense_Mutation_p.E635K|MYO3B_uc002ufz.3_Missense_Mutation_p.E635K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	635	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCCCAATGCTGAAGCTTTGCA	0.398000														67			13		0	0	0.001855	0	0
GLP2R	9340	broad.mit.edu	37	17	9792967	9792967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:9792967G>A	uc002gmd.1	+	12	1607	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	536					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGCAGTGAGGGGGATGTCACC	0.627000														7			3		0	0	0.004672	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479611	156479611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:156479611C>T	uc010jij.1	-	3	619	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.R145Q|HAVCR1_uc021ygj.1_Missense_Mutation_p.R145Q|HAVCR1_uc021ygk.1_5'UTR|HAVCR1_uc011ddm.2_Missense_Mutation_p.R145Q	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	145	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.R145Q(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCTCGTTCGAACAGTCGT	0.463000														446			66		0	0	0.014410	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407095	47407095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:47407095G>A	uc001cqp.4	-	0	62	c.11C>T	c.(10-12)tCt>tTt	p.S4F	CYP4A11_uc001cqq.2_Missense_Mutation_p.S4F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	4					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTCAGCACAGAGACACTCAT	0.597000														48			13		0	0	0.002450	0	0
SGPP2	130367	broad.mit.edu	37	2	223389666	223389666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:223389666C>T	uc010zlo.2	+	3	562	c.562C>T	c.(562-564)Cca>Tca	p.P188S	SGPP2_uc010zlp.2_Missense_Mutation_p.P60S	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	188					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCCACAGTATCCATTTGTGTT	0.458000														27			7		0	0	0.003080	0	0
RSF1	51773	broad.mit.edu	37	11	77412910	77412910	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:77412910A>T	uc001oyn.3	-	5	1484	c.1364T>A	c.(1363-1365)tTt>tAt	p.F455Y	RSF1_uc001oym.3_Missense_Mutation_p.F203Y	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	455					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTGTCTTAAAATTTGGAGC	0.408000														41			9		0	0	0.004482	0	0
HOXD3	3232	broad.mit.edu	37	2	177036546	177036546	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:177036546C>T	uc002ukt.1	+	2	1019	c.843C>T	c.(841-843)gcC>gcT	p.A281A		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	281					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCACGTGGCCTACTCCGGCC	0.697000														22			6		0	0	0.001168	0	0
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57327145G>A	uc002qnu.2	-	6	3016	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	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.R860C|PEG3_uc002qnv.2_Missense_Mutation_p.R889C|PEG3_uc002qnw.2_Missense_Mutation_p.R765C|PEG3_uc002qnx.2_Missense_Mutation_p.R763C|PEG3_uc010etr.2_Missense_Mutation_p.R889C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	889					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N888I(1)		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)		TCATAGTTGCGATTCTTACTG	0.443000														42			28		0	0	0.005443	0	0
SSX8	280659	broad.mit.edu	37	X	52662430	52662430	+	RNA	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:52662430C>T	uc011mob.1	+	7		c.879C>T								Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		GACACATGCCCATGATGAGAA	0.507000														28			5		0	0	0.000602	0	0
PARP15	165631	broad.mit.edu	37	3	122353928	122353928	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:122353928A>T	uc003efm.2	+	10	1700	c.1634A>T	c.(1633-1635)gAt>gTt	p.D545V	PARP15_uc003efn.2_Missense_Mutation_p.D350V|PARP15_uc003efo.1_Missense_Mutation_p.D292V|PARP15_uc003efp.1_Missense_Mutation_p.D311V|PARP15_uc011bjt.1_Missense_Mutation_p.D242V	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	523	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGGCAAATGGATATCAAGAAT	0.403000														30			5		0	0	0.000602	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751747	73751747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:73751747G>A	uc011dyh.2	+	2	925	c.578G>A	c.(577-579)gGa>gAa	p.G193E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G193E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G193E|KCNQ5_uc010kat.3_Missense_Mutation_p.G193E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G193E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G193E|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	193					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGATGGCAAGGAAGACTGAGG	0.438000														87			23		0	0	0.002780	0	0
KCNK5	8645	broad.mit.edu	37	6	39159374	39159374	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:39159374C>T	uc003oon.3	-	4	1156	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	264					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAAAGGACTCCTTCCGTCGCC	0.562000														104			18		0	0	0.006122	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:48559767C>T	uc002iqw.1	+	3	846	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			9		0	0	0.006214	0	0
FOLH1	2346	broad.mit.edu	37	11	49170281	49170281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:49170281G>A	uc001ngy.3	-	17	2234	c.1973C>T	c.(1972-1974)cCa>cTa	p.P658L	FOLH1_uc001ngx.3_Intron|FOLH1_uc009yly.3_Missense_Mutation_p.P643L|FOLH1_uc009ylz.3_Intron|FOLH1_uc001ngz.3_Intron|FOLH1_uc009yma.3_Missense_Mutation_p.P350L	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	658					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TAATACTATTGGGCTGAGAAA	0.303000														19			5		0	0	0.000602	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:50475286G>A	uc010ybk.1	+	2	317	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000														44			11		0	0	0.013537	0	0
TAF1L	138474	broad.mit.edu	37	9	32633616	32633616	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:32633616T>C	uc003zrg.1	-	0	2052	c.1962A>G	c.(1960-1962)tcA>tcG	p.S654S	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	654					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGTTGGACTGAATGGGGAC	0.498000														40			7		0	0	0.004482	0	0
CEP250	11190	broad.mit.edu	37	20	34091909	34091909	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:34091909G>A	uc021wco.1	+	29	6359	c.5712G>A	c.(5710-5712)ttG>ttA	p.L1904L	CEP250_uc010zve.2_Silent_p.L1272L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1904	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCTCTGTTGGCCCTCCAGC	0.647000														15			7		0	0	0.001984	0	0
XIRP1	165904	broad.mit.edu	37	3	39228015	39228015	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:39228015G>A	uc003cjk.2	-	1	3151	c.2922C>T	c.(2920-2922)ccC>ccT	p.P974P	XIRP1_uc003cji.3_Silent_p.P974P|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.P974P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	974							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTCCAGTGGGGGAACATGGA	0.667000														35			8		0	0	0.004482	0	0
USP34	9736	broad.mit.edu	37	2	61484347	61484347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:61484347G>A	uc002sbe.3	-	44	6005	c.5983C>T	c.(5983-5985)Ccc>Tcc	p.P1995S	USP34_uc002sbf.3_Missense_Mutation_p.P145S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1995					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCAGTTCGGGAGACATTTCT	0.313000														36			10		0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	68972915	68972915	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:68972915G>A	uc003xxv.1	+	11	1266	c.1239_splice	c.e11-1	p.S413_splice	PREX2_uc003xxu.1_Splice_Site_p.S413_splice|PREX2_uc011lez.1_Splice_Site_p.S348_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	413	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.E414K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCAGCGAATTTGTGTC	0.418000														28			5		0	0	0.001984	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116310	9116310	+	RNA	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:9116310G>A	uc010rbv.1	+	0		c.401G>A								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GTGCGCCCAGGAGAAGGAGCA	0.572000														10			3		0	0	0.004672	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:134134532G>A	uc003vrp.1	-	3	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000														79			24		0	0	0.005443	0	0
PUS1	80324	broad.mit.edu	37	12	132426184	132426184	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:132426184G>T	uc001ujf.3	+	4	1347	c.892G>T	c.(892-894)Gtc>Ttc	p.V298F	PUS1_uc001ujg.3_Missense_Mutation_p.V270F|PUS1_uc001ujh.3_Missense_Mutation_p.V270F|PUS1_uc001uji.3_Missense_Mutation_p.V245F	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	298						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGAAGATGGTCGGCCTGGT	0.617000														68			21		3.8784e-16	4.09618e-16	0.012319	1	0
DNAH3	55567	broad.mit.edu	37	16	21156557	21156557	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:21156557T>C	uc010vbe.2	-	2	393	c.393A>G	c.(391-393)caA>caG	p.Q131Q	DNAH3_uc002die.2_Silent_p.Q102Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	131	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTGGCCGGTTGGTAGACCT	0.562000														15			3		0	0	0.004672	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307998	46307998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:46307998C>T	uc002pdm.3	-	2	1336	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E125K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	389	Glu-rich.					intracellular				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						ccctcctcctcgccgtgcgcc	0.672000														10			4		0	0	0.009096	0	0
COG1	9382	broad.mit.edu	37	17	71202924	71202924	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:71202924T>A	uc002jjg.3	+	11	2733	c.2697T>A	c.(2695-2697)caT>caA	p.H899Q	COG1_uc002jjf.1_Missense_Mutation_p.H899Q|COG1_uc002jjh.3_Missense_Mutation_p.H899Q	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	899					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGAACCCCATAACATCCTGC	0.572000														27			5		0	0	0.000602	0	0
PLBD1	79887	broad.mit.edu	37	12	14695164	14695164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:14695164C>T	uc001rcc.1	-	2	558	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	133					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCACTTTATCCATGATGGAA	0.333000														29			5		0	0	0.001984	0	0
OR10G7	390265	broad.mit.edu	37	11	123909160	123909160	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123909160G>A	uc001pzq.1	-	0	549	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCAGTTTCAGGATGGGCGGTG	0.537000														162			8		0	0	0.004007	0	0
CCBP2	1238	broad.mit.edu	37	3	42906654	42906654	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:42906654C>T	uc003cme.3	+	2	838	c.660C>T	c.(658-660)ctC>ctT	p.L220L	CCBP2_uc003cmf.3_Silent_p.L220L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L220L	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	220					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TAGGGTTTCTCCTTCCACTCC	0.552000														87			20		0	0	0.010504	0	0
CTNND2	1501	broad.mit.edu	37	5	11346714	11346714	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:11346714G>A	uc003jfa.1	-	8	1543	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	CTNND2_uc010itt.2_Silent_p.S375S|CTNND2_uc011cmy.1_Silent_p.S129S|CTNND2_uc011cmz.1_Silent_p.S33S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.S33S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	466					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAAGGGGACGGAGTCGACAC	0.602000														20			6		0	0	0.001984	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437347	5437347	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:5437347G>A	uc001ihy.3	-	2	377	c.339C>T	c.(337-339)ggC>ggT	p.G113G	TUBAL3_uc001ihz.3_Silent_p.G73G	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	113					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGAGTAACGGCCTCGCGCGT	0.637000														89			10		0	0	0.008291	0	0
ABLIM1	3983	broad.mit.edu	37	10	116247758	116247758	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:116247758G>C	uc021pyx.1	-	7	1099	c.1000C>G	c.(1000-1002)Ccc>Gcc	p.P334A	ABLIM1_uc021pyw.1_Missense_Mutation_p.P334A|ABLIM1_uc021pyy.1_Missense_Mutation_p.P274A|ABLIM1_uc021pyz.1_Missense_Mutation_p.P268A|ABLIM1_uc021pza.1_Missense_Mutation_p.P274A|ABLIM1_uc021pze.1_Missense_Mutation_p.P258A|ABLIM1_uc021pzf.1_Missense_Mutation_p.P268A|ABLIM1_uc021pyv.1_Missense_Mutation_p.P11A|ABLIM1_uc021pzb.1_Missense_Mutation_p.P11A|ABLIM1_uc021pzc.1_Missense_Mutation_p.P11A|ABLIM1_uc021pzd.1_Missense_Mutation_p.P182A|ABLIM1_uc021pyu.1_Missense_Mutation_p.P18A	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	334	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTACAGTCGGGATGCCAAACG	0.483000														82			6		0	0	0.001984	0	0
GABRE	2564	broad.mit.edu	37	X	151123933	151123933	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151123933G>A	uc004ffi.3	-	7	1098	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	348					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAGACGAAGCAGATGG	0.488000														41			11		0	0	0.008291	0	0
ZNF677	342926	broad.mit.edu	37	19	53740413	53740413	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:53740413C>G	uc002qbg.1	-	4	1718	c.1567G>C	c.(1567-1569)Gct>Cct	p.A523P	ZNF677_uc002qbf.1_Missense_Mutation_p.A523P	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A523S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGGGTAAAAGCTTTGCCACAT	0.343000														32			7		0	0	0.001984	0	0
ALOX12B	242	broad.mit.edu	37	17	7989341	7989341	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7989341C>T	uc002gjy.1	-	1	606	c.345G>A	c.(343-345)gaG>gaA	p.E115E	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	115	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TACCTGTGGCCTCCCGGAGTG	0.617000										Multiple Myeloma(8;0.094)				33			15		0	0	0.004007	0	0
OR52M1	119772	broad.mit.edu	37	11	4567353	4567353	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4567353G>A	uc010qyf.2	+	0	933	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATACCAAGGATAGAAATGA	0.413000														20			7		0	0	0.003080	0	0
FOXO4	4303	broad.mit.edu	37	X	70316611	70316611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:70316611G>A	uc004dys.2	+	0	613	c.233G>A	c.(232-234)gGg>gAg	p.G78E	FOXO4_uc004dyt.2_Intron	NM_005938	NP_005929	P98177	FOXO4_HUMAN	Homo sapiens forkhead box O4 (FOXO4), transcript variant 1, mRNA.	78					G1 phase of mitotic cell cycle|cell cycle arrest|cell differentiation|embryo development|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GAGCCGGCCGGGGGCCCCCAG	0.662000														8			3		0	0	0.004672	0	0
ZNF609	23060	broad.mit.edu	37	15	64968417	64968417	+	Silent	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:64968417C>A	uc002ann.3	+	3	3364	c.3364C>A	c.(3364-3366)Cga>Aga	p.R1122R		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1122						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGTGTGGTCGACAGGCAGA	0.542000														40			14		7.07596e-05	7.31676e-05	0.006122	1	0
TBX21	30009	broad.mit.edu	37	17	45822488	45822488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:45822488C>T	uc002ilv.1	+	5	1575	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	455					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGGACTCTGCCCATGGAACCC	0.687000														20			3		0	0	0.009096	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896164	89896164	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:89896164A>G	uc001pdf.4	+	8	1146	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	NAALAD2_uc009yvx.3_Missense_Mutation_p.Y313C|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	346	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAAGGATTTACAATGTAGTT	0.264000														70			4		0	0	0.009096	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108813	75108813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:75108813G>A	uc002ayt.1	+	2	378	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	LMAN1L_uc010bkd.2_Missense_Mutation_p.G54R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.G126R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	126	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTCCTTGGGGGGCTGGC	0.672000														74			17		0	0	0.010504	0	0
GPR39	2863	broad.mit.edu	37	2	133175151	133175151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:133175151C>T	uc002ttl.3	+	0	1005	c.536C>T	c.(535-537)cCc>cTc	p.P179L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	179						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGAGTACCCCCTGGTGAAC	0.622000														22			9		0	0	0.006214	0	0
ZFP57	346171	broad.mit.edu	37	6	29641432	29641432	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29641432G>A	uc011dlw.2	-	3	607	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGGCAGATAGGGGGCACTGGC	0.557000														67			36		0	0	0.004289	0	0
ARNT	405	broad.mit.edu	37	1	150788808	150788808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:150788808G>A	uc001evr.2	-	18	2078	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ARNT_uc010pck.2_Missense_Mutation_p.S115F|ARNT_uc001evs.2_Missense_Mutation_p.S611F|ARNT_uc009wmd.2_Missense_Mutation_p.S611F|ARNT_uc009wmb.2_Missense_Mutation_p.S612F|ARNT_uc009wmc.2_Missense_Mutation_p.S624F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	626					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGTGGCGGGAAATCTGGGC	0.522000			T	ETV6	AML									29			13		0	0	0.013537	0	0
OR2T2	401992	broad.mit.edu	37	1	248616126	248616126	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248616126T>A	uc001iek.1	+	0	28	c.28T>A	c.(28-30)Tcc>Acc	p.S10T		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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;0.0265)			TCTCCAGAACTCCACTAACTT	0.502000														114			20		0	0	0.006999	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877120	24877120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:24877120C>T	uc001wpf.4	+	2	562	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	82					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAAGAGGTTCGCTACCCACC	0.637000														47			10		0	0	0.010729	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477462	110477462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:110477462G>A	uc001pkz.1	-	9	1072	c.787C>T	c.(787-789)Cca>Tca	p.P263S	ARHGAP20_uc001pky.1_Missense_Mutation_p.P240S|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P227S|ARHGAP20_uc001pla.1_Missense_Mutation_p.P227S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	263	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTCCATATGGATATTCATGC	0.438000														65			21		0	0	0.010504	0	0
GPX6	257202	broad.mit.edu	37	6	28483506	28483506	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:28483506G>A	uc021yrx.1	-	0	65	c.15C>T	c.(13-15)ttC>ttT	p.F5F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	5					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGGAGGCCTGGAACTGCTGGA	0.542000														28			4		0	0	0.000602	0	0
FAT3	120114	broad.mit.edu	37	11	92086925	92086925	+	Silent	SNP	C	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:92086925C>G	uc001pdj.4	+	0	1664	c.1647C>G	c.(1645-1647)gcC>gcG	p.A549A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	549	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T548T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGTTAGAGCCTCTGACTGGG	0.403000										TCGA Ovarian(4;0.039)				308			92		0	0	0.014410	0	0
NR3C2	4306	broad.mit.edu	37	4	149002580	149002580	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:149002580G>T	uc003ilj.4	-	8	3233	c.2870C>A	c.(2869-2871)cCc>cAc	p.P957H	NR3C2_uc003ilk.4_Missense_Mutation_p.P840H|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	957	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CAGCATTGCGGGGAACTCTAC	0.602000														16			9		1.12685e-05	1.16979e-05	0.004482	1	0
PPARG	5468	broad.mit.edu	37	3	12458497	12458497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:12458497G>A	uc003bwx.3	+	5	1205	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	PPARG_uc003bwr.3_Missense_Mutation_p.G344S|PPARG_uc003bws.3_Missense_Mutation_p.G344S|PPARG_uc003bwu.3_Missense_Mutation_p.G344S|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	372	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATATCCGAGGGCCAAGGCTT	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							310			79		0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10352002	10352002	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10352002C>T	uc002gmn.3	-	31	4575	c.4464G>A	c.(4462-4464)gtG>gtA	p.V1488V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1488					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGCATTCTTCACCTTGAACA	0.443000														51			15		0	0	0.002450	0	0
CHAT	1103	broad.mit.edu	37	10	50835666	50835666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:50835666G>A	uc001jhz.2	+	6	1099	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CHAT_uc001jhv.1_Missense_Mutation_p.D198N|CHAT_uc001jhx.1_Missense_Mutation_p.D198N|CHAT_uc001jhy.1_Missense_Mutation_p.D198N|CHAT_uc001jia.2_Missense_Mutation_p.D234N|CHAT_uc010qgs.1_Missense_Mutation_p.D198N	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	316					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTTTGTCTTGGATGTTGTCAT	0.512000														52			27		0	0	0.010818	0	0
PCDH20	64881	broad.mit.edu	37	13	61986959	61986959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:61986959C>T	uc001vid.4	-	1	1637	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PCDH20_uc010thj.2_Missense_Mutation_p.E425K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	398	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A425A(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACAATTTCAGGGGGTCTG	0.448000														63			20		0	0	0.010504	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555209	141555209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:141555209G>A	uc010ioj.3	-	15	2911	c.2639C>T	c.(2638-2640)cCt>cTt	p.P880L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	880						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACATGCCCAAGGAAAGAGAAG	0.507000														21			3		0	0	0.004672	0	0
CD163L1	283316	broad.mit.edu	37	12	7521994	7521994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:7521994C>T	uc010sge.2	-	14	4054	c.4028G>A	c.(4027-4029)aGt>aAt	p.S1343N	CD163L1_uc001qsy.3_Missense_Mutation_p.S1333N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1333	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACAGTCACTCTGTCCCCA	0.517000														70			19		0	0	0.008871	0	0
NEK11	79858	broad.mit.edu	37	3	130947488	130947488	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:130947488A>T	uc003eny.3	+	14	1842	c.1516A>T	c.(1516-1518)Atc>Ttc	p.I506F	NEK11_uc003eoa.3_Missense_Mutation_p.I506F|NEK11_uc003enz.3_Missense_Mutation_p.I324F|NEK11_uc011blk.2_Missense_Mutation_p.I322F|NEK11_uc011bll.2_Missense_Mutation_p.I401F	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	506					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAGAAAGAAATCAGGAATGA	0.448000														27			6		0	0	0.003080	0	0
ZNF185	7739	broad.mit.edu	37	X	152085689	152085689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:152085689G>A	uc011myg.2	+	3	287	c.239G>A	c.(238-240)aGg>aAg	p.R80K	ZNF185_uc011myi.2_Missense_Mutation_p.R80K|ZNF185_uc011myj.2_Missense_Mutation_p.R80K|ZNF185_uc011myh.2_Missense_Mutation_p.R80K|ZNF185_uc011myk.2_Missense_Mutation_p.R80K|ZNF185_uc010ntv.2_Missense_Mutation_p.R80K|ZNF185_uc004fgw.4_5'Flank|ZNF185_uc004fgu.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	80						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGCACAAGGGCTCCCACT	0.597000														56			18		0	0	0.003954	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107502	69107502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69107502C>T	uc003hdw.4	-	1	165	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	10					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGCCAAGATCTTTGGGAAGA	0.403000														51			6		0	0	0.001984	0	0
NFIA	4774	broad.mit.edu	37	1	61554110	61554110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:61554110C>T	uc010oos.2	+	2	534	c.452C>T	c.(451-453)tCc>tTc	p.S151F	NFIA_uc001czy.3_Missense_Mutation_p.S98F|NFIA_uc001czw.3_Missense_Mutation_p.S106F|NFIA_uc001czv.3_Missense_Mutation_p.S106F	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	106					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGTGTTCTTTCCAACCCAGAC	0.448000														57			10		0	0	0.008291	0	0
C12orf40	283461	broad.mit.edu	37	12	40078685	40078685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:40078685G>A	uc001rmc.3	+	9	1470	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	435								p.S434L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATACCTTCGGAAGAATTGCA	0.368000														21			5		0	0	0.001168	0	0
STARD7	56910	broad.mit.edu	37	2	96852638	96852638	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:96852638G>A	uc002svm.4	-	7	1344	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	STARD7_uc021vli.1_5'Flank|STARD7_uc002svl.3_Silent_p.L93L	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	315	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGCTTCTCCAGGAAATCTGGC	0.443000														34			11		0	0	0.013537	0	0
USP26	83844	broad.mit.edu	37	X	132159888	132159888	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:132159888G>A	uc011mvf.2	-	0	2413	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S	USP26_uc010nrm.1_Silent_p.S787S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	787					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTGCAAGTAGGGAATTCCTGT	0.398000														76			14		0	0	0.004007	0	0
IMPG1	3617	broad.mit.edu	37	6	76751689	76751689	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:76751689G>A	uc003pik.1	-	1	352	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	74					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCCCCGTTGGGAAAAATGCGG	0.368000														40			8		0	0	0.003080	0	0
ART3	419	broad.mit.edu	37	4	77003159	77003159	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:77003159C>T	uc003hjo.3	+	2	386	c.252C>T	c.(250-252)atC>atT	p.I84I	ART3_uc003hji.3_Silent_p.I84I|ART3_uc003hjj.3_Silent_p.I84I|ART3_uc003hjk.3_Silent_p.I84I|ART3_uc010ija.2_Silent_p.I84I|ART3_uc003hjn.3_Silent_p.I84I|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Silent_p.I54I|ART3_uc010ijc.3_Silent_p.I54I|ART3_uc010ijd.3_Silent_p.I54I	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	84					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGACTCAAATCTTTCTCCCTA	0.433000														27			8		0	0	0.004482	0	0
RLF	6018	broad.mit.edu	37	1	40702247	40702247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:40702247C>T	uc001cfc.4	+	7	1904	c.1873C>T	c.(1873-1875)Caa>Taa	p.Q625*	RLF_uc001cfd.4_Nonsense_Mutation_p.Q316*	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	625					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAAGGCTCTCAAAAGGGTAT	0.408000														30			5		0	0	0.000602	0	0
NOC2L	26155	broad.mit.edu	37	1	889264	889264	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:889264G>A	uc009vjq.3	-	7	845	c.786C>T	c.(784-786)tcC>tcT	p.S262S	NOC2L_uc001aby.4_Silent_p.S59S|NOC2L_uc001abz.4_Silent_p.S262S	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	262						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGACAGACAGGACACCAGCT	0.627000														24			4		0	0	0.009096	0	0
RPTN	126638	broad.mit.edu	37	1	152127768	152127768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152127768C>T	uc001ezs.1	-	2	1872	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	603	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCTTGTTCCTTCAGTCCCT	0.453000														113			42		0	0	0.008740	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	T	T	rs143101113		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:201354881C>T	uc001gwm.3	-	3	1314	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_uc009wzu.1_Missense_Mutation_p.R382Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			29		0	0	0.009535	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:28233336C>T	uc009xky.3	-	11	1656	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_uc010qds.2_Missense_Mutation_p.E45K|ARMC4_uc010qdt.2_Missense_Mutation_p.E212K|ARMC4_uc001itz.3_Missense_Mutation_p.E520K|ARMC4_uc010qdu.1_Missense_Mutation_p.E212K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000														21			6		0	0	0.001984	0	0
PRPF4	9128	broad.mit.edu	37	9	116046646	116046646	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:116046646C>T	uc004bgx.3	+	6	839	c.729C>T	c.(727-729)tcC>tcT	p.S243S	PRPF4_uc004bgy.3_Silent_p.S242S	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	243						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTCCCAATTCCAAGATGCTGG	0.388000														32			9		0	0	0.006214	0	0
COL4A1	1282	broad.mit.edu	37	13	110814651	110814651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:110814651C>T	uc001vqw.4	-	47	4510	c.4388G>A	c.(4387-4389)gGg>gAg	p.G1463E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1463	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATTTTGGTCCCAGAAGGACA	0.532000														172			34		0	0	0.004878	0	0
IFT46	56912	broad.mit.edu	37	11	118428546	118428546	+	Silent	SNP	A	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:118428546A>C	uc001pto.2	-	3	524	c.105T>G	c.(103-105)gtT>gtG	p.V35V	IFT46_uc001ptp.2_Intron	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	15	Asp/Glu-rich (highly acidic).				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GGGCAGGTGGAACAGGGTCCA	0.542000														111			27		0	0	0.008361	0	0
SERPINE3	647174	broad.mit.edu	37	13	51936089	51936089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:51936089G>A	uc001vfh.2	+	6	1291	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	SERPINE3_uc010tgp.2_Intron|INTS6_uc001vfi.3_3'UTR|INTS6_uc001vfj.3_3'UTR|INTS6_uc001vfk.3_3'UTR|INTS6_uc001vfl.3_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	411					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TAGCAACAAGGGCTCATTTGT	0.388000														45			8		0	0	0.004482	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359259	64359259	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:64359259C>T	uc001oam.1	+	0	978	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC22A12_uc009ypr.1_Silent_p.I77I|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.I77I|SLC22A12_uc001oan.1_Silent_p.I77I|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	77					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTATTTCCATCCCGCCGGGCC	0.687000														23			6		0	0	0.001984	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70359506G>A	uc003hek.4	-	1	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000														34			12		0	0	0.010729	0	0
PTGER2	5732	broad.mit.edu	37	14	52781333	52781333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:52781333G>A	uc001wzr.3	+	0	318	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	23						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TCCCCCAGGCGAAAGCCCAGC	0.667000														15			3		0	0	0.004672	0	0
SLC7A9	11136	broad.mit.edu	37	19	33321549	33321549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:33321549G>A	uc002ntv.4	-	12	1558	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.P481S|SLC7A9_uc021usa.1_Missense_Mutation_p.P481S|SLC7A9_uc002ntw.4_Missense_Mutation_p.P272S	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	481					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCCTCCGGTGGGACCACTTCC	0.393000														59			21		0	0	0.004656	0	0
YSK4	80122	broad.mit.edu	37	2	135744719	135744719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:135744719G>A	uc002tue.1	-	6	1754	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P462S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P303S|YSK4_uc002tui.4_Missense_Mutation_p.P592S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	575							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCCAAAGCCGGGAAAATTTGT	0.438000														38			15		0	0	0.002450	0	0
TRPS1	7227	broad.mit.edu	37	8	116599243	116599243	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:116599243G>A	uc003yny.3	-	4	3263	c.2685C>T	c.(2683-2685)tcC>tcT	p.S895S	TRPS1_uc011lhy.2_Silent_p.S886S|TRPS1_uc003ynz.3_Silent_p.S882S|TRPS1_uc010mcy.3_Silent_p.S882S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	882					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)			ACAGGGACTGGGATTCATCCT	0.498000									Langer-Giedion syndrome					62			20		0	0	0.010504	0	0
DDX27	55661	broad.mit.edu	37	20	47850207	47850207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:47850207C>T	uc002xuh.3	+	10	1388	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	443						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATCCGGATCCGGCCTAATCG	0.567000														73			10		0	0	0.006214	0	0
SYT17	51760	broad.mit.edu	37	16	19278239	19278239	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:19278239C>T	uc002dfw.3	+	7	1597	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	SYT17_uc002dfx.3_Silent_p.I361I|SYT17_uc002dfy.3_Silent_p.I418I	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	422	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGACTTCATCGGGAGGATCG	0.577000														30			15		0	0	0.007413	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339169	11339169	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:11339169C>T	uc001qzr.1	-	0	375	c.375G>A	c.(373-375)agG>agA	p.R125R	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	125					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTCCGTTCATCCTCCACCTCA	0.383000														18			4		0	0	0.009096	0	0
XKR3	150165	broad.mit.edu	37	22	17264938	17264938	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:17264938G>A	uc002zlv.3	-	3	1049	c.951C>T	c.(949-951)atC>atT	p.I317I	XKR3_uc011agf.2_Silent_p.I317I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	317						integral to membrane|plasma membrane		p.A316A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGAGAAGTTGATGGCAGCAT	0.443000														42			5		0	0	0.001984	0	0
MLL2	8085	broad.mit.edu	37	12	49445231	49445231	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:49445231G>A	uc001rta.4	-	9	2235	c.2235C>T	c.(2233-2235)ccC>ccT	p.P745P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	745	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E745*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCTCAGGCCGGGGTGACAGGT	0.697000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				30			11		0	0	0.013537	0	0
GSTM5	2949	broad.mit.edu	37	1	110256309	110256309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:110256309C>T	uc001dyn.3	+	4	357	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	GSTM5_uc010ovu.1_Missense_Mutation_p.R55C	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	96	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.R96C(2)|p.R96L(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGAGAAGATTCGTGTGGACAT	0.542000														25			11		0	0	0.003163	0	0
DAB1	1600	broad.mit.edu	37	1	57481077	57481077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:57481077G>A	uc009vzx.1	-	11	1243	c.923C>T	c.(922-924)cCg>cTg	p.P308L	DAB1_uc001cyt.1_Missense_Mutation_p.P306L|DAB1_uc001cyq.1_Missense_Mutation_p.P306L|DAB1_uc001cyr.1_Missense_Mutation_p.P222L|DAB1_uc009vzw.1_Missense_Mutation_p.P290L|DAB1_uc001cys.1_Missense_Mutation_p.P308L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	341					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAGAAGGACGGGAGGACAGC	0.592000														20			9		0	0	0.004482	0	0
CRCT1	54544	broad.mit.edu	37	1	152487900	152487900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152487900C>T	uc021oyy.1	+	0	41	c.41C>T	c.(40-42)tCc>tTc	p.S14F	CRCT1_uc001ezz.3_Missense_Mutation_p.S14F	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	14										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGGCTTTTCCAAGGGGTCG	0.687000														17			5		0	0	0.000602	0	0
TGM3	7053	broad.mit.edu	37	20	2312688	2312688	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:2312688G>A	uc002wfx.4	+	9	1471	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	458					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGGCTTTGGGGAAACTTAAAC	0.527000														35			8		0	0	0.004482	0	0
CHD6	84181	broad.mit.edu	37	20	40086061	40086061	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:40086061G>T	uc002xka.1	-	17	2850	c.2672C>A	c.(2671-2673)gCc>gAc	p.A891D	CHD6_uc002xkd.2_Missense_Mutation_p.A869D	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	891	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGACATCGGGCCTGAGCCTG	0.512000														16			3		0.00909568	0.00935623	0.009096	1	0
MS4A4A	51338	broad.mit.edu	37	11	60068490	60068490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:60068490C>T	uc001noz.3	+	3	482	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MS4A4A_uc001npa.3_Missense_Mutation_p.S97F|MS4A4A_uc001npc.3_Missense_Mutation_p.S116F	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	116						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ATTTCAGGATCCTTGTCAATT	0.279000														17			5		0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158585013	158585013	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158585013G>A	uc001fst.1	-	47	6980	c.6781C>T	c.(6781-6783)Cag>Tag	p.Q2261*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2261					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACTTGGCCTGGATCTGTTGC	0.527000														135			33		0	0	0.003755	0	0
ZNF142	7701	broad.mit.edu	37	2	219508926	219508926	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219508926G>A	uc002vin.3	-	7	2749	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ZNF142_uc002vil.3_Silent_p.S732S|ZNF142_uc010fvt.3_Silent_p.S608S|ZNF142_uc002vim.3_Silent_p.S608S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCCTCTAAGGATGGAGGAT	0.493000														75			16		0	0	0.004990	0	0
ITIH5	80760	broad.mit.edu	37	10	7679438	7679438	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:7679438C>T	uc021pmv.1	-	4	511	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ITIH5_uc001ijr.2_Silent_p.E135E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	135	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTCCCCTTCTCTCTGTCAG	0.547000														38			14		0	0	0.004990	0	0
PRSS45	377047	broad.mit.edu	37	3	46784534	46784534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:46784534C>T	uc010hjl.3	-	2	357	c.322G>A	c.(322-324)Gag>Aag	p.E108K	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	140	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACCTCAGCCTCCTGCAGCTCT	0.577000														39			12		0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38950122	38950122	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:38950122G>A	uc021yzh.1	+	86	12944	c.12835_splice	c.e86-1	p.E4279_splice	DNAH8_uc003ooe.2_Splice_Site_p.E4062_splice|DNAH8_uc003oog.1_Splice_Site_p.E511_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTTTAAGGAGCGACGAAA	0.328000														77			18		0	0	0.002780	0	0
LRRC7	57554	broad.mit.edu	37	1	70587489	70587489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:70587489G>A	uc001dep.3	+	24	4563	c.4533G>A	c.(4531-4533)atG>atA	p.M1511I	LRRC7_uc009wbg.3_Missense_Mutation_p.M795I|LRRC7_uc001deq.3_Missense_Mutation_p.M705I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1511	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGTACATATGGAACATGAAA	0.308000														27			7		0	0	0.008291	0	0
ITGA10	8515	broad.mit.edu	37	1	145535871	145535871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:145535871C>T	uc001eoa.3	+	15	2135	c.2059C>T	c.(2059-2061)Cgt>Tgt	p.R687C	ITGA10_uc010oyv.2_Missense_Mutation_p.R556C|ITGA10_uc009wiw.3_Missense_Mutation_p.R544C|ITGA10_uc010oyw.2_Missense_Mutation_p.R632C	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	687					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTGACCTCCCGTACTCCTGG	0.547000														53			12		0	0	0.001855	0	0
IFNA8	3445	broad.mit.edu	37	9	21409424	21409424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:21409424G>A	uc003zpc.1	+	0	279	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_002170	NP_002161	P32881	IFNA8_HUMAN	Homo sapiens interferon, alpha 8 (IFNA8), mRNA.	83					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TCCATGAGATGATCCAGCAGA	0.478000														47			22		0	0	0.014323	0	0
ASB17	127247	broad.mit.edu	37	1	76397802	76397802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:76397802C>T	uc001dhe.2	-	0	315	c.175G>A	c.(175-177)Gac>Aac	p.D59N	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	59					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CCATCCAAGTCCACATACCTC	0.393000														72			23		0	0	0.003330	0	0
FRMD7	90167	broad.mit.edu	37	X	131228139	131228139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:131228139C>T	uc004ewn.3	-	4	491	c.313G>A	c.(313-315)Gat>Aat	p.D105N	FRMD7_uc022cdy.1_5'UTR|FRMD7_uc011muy.2_Missense_Mutation_p.D90N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	105	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCAAATCCTTCTTTATT	0.393000														78			18		0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	138425405	138425405	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:138425405C>T	uc002tva.1	+	25	4623	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGATTTTCCTAATATTTA	0.313000														5			4		0	0	0.000602	0	0
CRLF3	51379	broad.mit.edu	37	17	29120513	29120513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:29120513G>A	uc002hfr.4	-	4	890	c.781C>T	c.(781-783)Cct>Tct	p.P261S	CRLF3_uc010wbr.2_Missense_Mutation_p.P145S	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	261	Fibronectin type-III.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ACACTCCAAGGACTCCACTCC	0.468000														46			9		0	0	0.010729	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967416	41967416	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:41967416G>A	uc010skn.2	+	9	2843	c.2835G>A	c.(2833-2835)gaG>gaA	p.E945E	PDZRN4_uc001rmq.4_Silent_p.E687E|PDZRN4_uc009zjz.3_Silent_p.E685E|PDZRN4_uc001rmr.3_Silent_p.E572E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	945							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAAAGAGGAGAGAAAGCAGC	0.552000														21			6		0	0	0.003080	0	0
COLEC12	81035	broad.mit.edu	37	18	346919	346919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:346919G>A	uc002kkm.3	-	4	918	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	235					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGATTCGCTGGATAGCCTGG	0.507000														71			6		0	0	0.003080	0	0
DGCR5	26220	broad.mit.edu	37	22	18979491	18979491	+	RNA	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:18979491C>T	uc021wku.1	+	3		c.672C>T			DGCR5_uc002zon.2_Non-coding_Transcript|DGCR5_uc021wkv.1_Non-coding_Transcript					Homo sapiens DiGeorge syndrome critical region gene 5 (non-protein coding) (DGCR5), transcript variant 1, non-coding RNA.																		TGGAACCATTCCCTGGCGTAA	0.582000														17			5		0	0	0.000602	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057913	63057913	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:63057913C>T	uc009yor.3	+	0	484	c.276C>T	c.(274-276)gtC>gtT	p.V92V	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.V40V	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	92						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCGCTTTGTCCATCCCCAGT	0.493000														58			15		0	0	0.003163	0	0
PDZD4	57595	broad.mit.edu	37	X	153069974	153069974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:153069974C>T	uc004fja.1	-	7	1412	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	PDZD4_uc004fiy.1_Missense_Mutation_p.G307R|PDZD4_uc004fiz.1_Missense_Mutation_p.G382R|PDZD4_uc004fix.2_Missense_Mutation_p.G286R|PDZD4_uc011mze.1_Missense_Mutation_p.G273R|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	382						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTGCCTCCGGAGGCCCGG	0.627000														35			7		0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11539999	11539999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11539999G>A	uc002gne.3	+	8	1752	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	562	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTAGCGAGGGATACATCTGA	0.453000														60			12		0	0	0.013537	0	0
ZNF236	7776	broad.mit.edu	37	18	74620486	74620486	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:74620486G>A	uc002lmi.3	+	13	2700	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	834					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGAAGCAGGGCTGGGCCAGC	0.582000														48			15		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61833536	61833536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:61833536C>T	uc001jky.3	-	36	7441	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2368					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTAATATCTCCCCGGGATAA	0.388000														37			7		0	0	0.001984	0	0
RYR1	6261	broad.mit.edu	37	19	38991599	38991599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:38991599C>T	uc002oit.3	+	46	7713	c.7583C>T	c.(7582-7584)cCc>cTc	p.P2528L	RYR1_uc002oiu.3_Missense_Mutation_p.P2528L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2528	6 X approximate repeats.				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)	GGGTTCCTGCCCGACATGAGG	0.642000														29			5		0	0	0.001168	0	0
SNAP47	116841	broad.mit.edu	37	1	227935643	227935643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:227935643C>T	uc001hrf.2	+	1	755	c.341C>T	c.(340-342)aCc>aTc	p.T114I	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.T114I|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	114						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGCTCCATCACCATCCTGGAG	0.522000														63			11		0	0	0.008291	0	0
ZNF766	90321	broad.mit.edu	37	19	52794264	52794264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:52794264G>A	uc002pyt.1	+	4	1642	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	ZNF766_uc002pyr.1_Missense_Mutation_p.G407E|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATTCACACTGGAGAGAAACCT	0.383000														21			3		0	0	0.004672	0	0
OR6N1	128372	broad.mit.edu	37	1	158736065	158736065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158736065C>T	uc010piq.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTGTTGGGGTCATGAGGGTTG	0.527000														23			7		0	0	0.004482	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602168	58602168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:58602168G>A	uc001nnd.4	-	5	750	c.619C>T	c.(619-621)Cca>Tca	p.P207S	GLYATL2_uc009ymq.3_Missense_Mutation_p.P207S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	207						mitochondrion	glycine N-acyltransferase activity	p.G206C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGGCCCTCTGGACCCAGCACA	0.468000														14			8		0	0	0.003080	0	0
OR5H2	79310	broad.mit.edu	37	3	98002107	98002107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:98002107G>A	uc003dsj.1	+	0	376	c.376G>A	c.(376-378)Gat>Aat	p.D126N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATGGCATATGATCGCTATGT	0.373000														44			8		0	0	0.004482	0	0
NUAK2	81788	broad.mit.edu	37	1	205272979	205272979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:205272979G>A	uc001hce.3	-	6	1613	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	496					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGCGATGGAGGAGCAGCCCT	0.617000														39			15		0	0	0.006122	0	0
PCBP4	57060	broad.mit.edu	37	3	51994051	51994051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51994051G>A	uc003dcc.2	-	3	1160	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	PCBP4_uc003dcb.2_Intron|PCBP4_uc003dcf.2_Intron|PCBP4_uc003dce.2_Intron|PCBP4_uc003dcg.2_Intron|PCBP4_uc003dcj.2_Intron|PCBP4_uc003dck.2_Intron|PCBP4_uc003dch.2_Intron|PCBP4_uc003dci.2_Intron			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	128	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCAAACAGAGAACAGGGGCC	0.602000														29			15		0	0	0.003163	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55594880C>T	uc001nhy.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)				126			29		0	0	0.009535	0	0
DNAH2	146754	broad.mit.edu	37	17	7661813	7661813	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7661813G>A	uc002giu.1	+	13	2066	c.2052_splice	c.e13-1	p.R684_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	684	Stem (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)				TTATGCACAGGATTATTGCCA	0.502000														99			19		0	0	0.008871	0	0
DOCK10	55619	broad.mit.edu	37	2	225751242	225751242	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225751242T>C	uc010fwz.1	-	4	662	c.423A>G	c.(421-423)gaA>gaG	p.E141E	DOCK10_uc002vob.2_Silent_p.E135E|DOCK10_uc002vod.1_Silent_p.E141E	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	141							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGGTTTGTATTCTGCTCTGA	0.343000														18			8		0	0	0.004482	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821090	26821090	+	Missense_Mutation	SNP	C	T	T	rs45546232		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:26821090C>T	uc010wan.2	+	7	1367	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.2_Missense_Mutation_p.P341S|SLC13A2_uc002hbh.3_Missense_Mutation_p.P385S|SLC13A2_uc010wao.2_Missense_Mutation_p.P342S|SLC13A2_uc002hbi.3_Missense_Mutation_p.P314S	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	385						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTTCATCATACCCTCCAAGTT	0.602000														49			5		0	0	0.001168	0	0
F2RL1	2150	broad.mit.edu	37	5	76128859	76128859	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:76128859T>A	uc003keo.3	+	1	602	c.427T>A	c.(427-429)Tat>Aat	p.Y143N		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	143					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAACTGGATTTATGGGGAAGC	0.458000														429			120		0	0	0.014410	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164947	30164947	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:30164947C>T	uc002nsi.4	+	1	554	c.456C>T	c.(454-456)atC>atT	p.I152I	PLEKHF1_uc002nsh.4_Silent_p.I67I|PLEKHF1_uc021ury.1_Silent_p.I67I	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 1 (PLEKHF1), mRNA.	67					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ATGGCAGCATCGTGCTCAACA	0.602000														42			8		0	0	0.003080	0	0
DSG1	1828	broad.mit.edu	37	18	28914045	28914045	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:28914045G>A	uc002kwp.3	+	7	1097	c.885G>A	c.(883-885)ttG>ttA	p.L295L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.D294H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAATTGATTTGGATGAAGAGT	0.323000														41			13		0	0	0.013537	0	0
AEBP1	165	broad.mit.edu	37	7	44151903	44151903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:44151903C>T	uc003tkb.3	+	16	2505	c.2200C>T	c.(2200-2202)Ctt>Ttt	p.L734F	AEBP1_uc003tkc.4_Missense_Mutation_p.L309F|AEBP1_uc003tkd.3_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	734	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGAACGCTACCTTTCGCCAGA	0.612000														27			7		0	0	0.003080	0	0
RXFP4	339403	broad.mit.edu	37	1	155911936	155911936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155911936G>A	uc010pgs.2	+	0	457	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	146						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTGGCCATGGCTGCGGGGCC	0.637000														38			17		0	0	0.004007	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303974	151303974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151303974G>A	uc022cgz.1	-	0	119	c.119C>T	c.(118-120)tCa>tTa	p.S40L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.S40L|MAGEA10_uc004ffm.2_Missense_Mutation_p.S40L|MAGEA10_uc004ffl.3_Missense_Mutation_p.S40L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	40										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGGATGATGAAGCATC	0.562000														39			10		0	0	0.006214	0	0
OR2M7	391196	broad.mit.edu	37	1	248487554	248487554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248487554G>A	uc010pzk.2	-	0	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I105V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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;0.0265)			GCCAAGCAATGATATATAGAA	0.458000														161			51		0	0	0.014410	0	0
HMGB3	3149	broad.mit.edu	37	X	150154590	150154590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:150154590C>T	uc004fep.3	+	2	309	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	HMGB3_uc004feq.3_Missense_Mutation_p.R73W|HMGB3_uc004fer.3_Missense_Mutation_p.R73W	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	73					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTATGATCGGGAAATGAA	0.438000														16			6		0	0	0.001168	0	0
OR5T1	390155	broad.mit.edu	37	11	56043507	56043507	+	Silent	SNP	T	C	C	rs147254260	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:56043507T>C	uc001nio.1	+	0	393	c.393T>C	c.(391-393)gcT>gcC	p.A131A		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGCAATGGCTTATGATCGCT	0.423000														106			30		0	0	0.008361	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919200	56919200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:56919200G>A	uc003pdj.3	+	3	2073	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KIAA1586_uc011dxm.2_Missense_Mutation_p.E608K	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	635							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGATTTGCTGGAACCTTCCAC	0.308000														32			4		0	0	0.009096	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691146	18691146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:18691146G>A	uc001rdt.3	+	23	3373	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G1127E|PIK3C2G_uc010sic.2_Missense_Mutation_p.G905E	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGAGGGTGGGAAAAACCCA	0.398000														53			12		0	0	0.013537	0	0
AGAP9	642517	broad.mit.edu	37	10	47193377	47193377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:47193377T>C	uc009xnf.2	-	7	854	c.742A>G	c.(742-744)Atg>Gtg	p.M248V	AGAP9_uc001jei.3_Non-coding_Transcript	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	248					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACCAGCGCATGGACAGCTTG	0.582000														1			3		0	0	0.009096	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142601967	142601967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:142601967G>A	uc011dbj.2	+	22	2436	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	ARHGAP26_uc003lmt.3_Missense_Mutation_p.G746R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G709R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	801	SH3.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTCTGAACGGAAAGACTGG	0.532000														46			6		0	0	0.003080	0	0
IDUA	3425	broad.mit.edu	37	4	998111	998111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:998111C>T	uc003gby.3	+	13	1980	c.1892C>T	c.(1891-1893)cCc>cTc	p.P631L	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Missense_Mutation_p.P653L	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	631					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CGACCAGGCCCCTTCTCGGAC	0.647000														32			4		0	0	0.000602	0	0
KCNK1	3775	broad.mit.edu	37	1	233802600	233802600	+	Silent	SNP	C	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233802600C>A	uc010pxo.1	+	1	783	c.615C>A	c.(613-615)gtC>gtA	p.V205V		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	205						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTTCTCAGTCCTGGAGGATG	0.532000														76			12		4.93089e-13	5.18696e-13	0.002450	1	0
MYH2	4620	broad.mit.edu	37	17	10432309	10432309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10432309C>T	uc010coi.3	-	26	3570	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1148K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1148					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCCAGCTCCCGGGAGAGG	0.617000														84			19		0	0	0.008871	0	0
GK	2710	broad.mit.edu	37	X	30738986	30738986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:30738986G>A	uc022buj.1	+	17	1554	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	GK_uc004dch.4_Missense_Mutation_p.E459K|GK_uc010ngj.3_Missense_Mutation_p.E453K|GK_uc004dci.4_Missense_Mutation_p.E453K|GK_uc011mjz.2_Missense_Mutation_p.E254K|GK_uc011mka.2_Missense_Mutation_p.E296K|GK_uc010ngk.3_Missense_Mutation_p.E248K	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	459					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTCAATGCCCGAAACCACTGC	0.527000														16			6		0	0	0.001168	0	0
ZIM3	114026	broad.mit.edu	37	19	57646329	57646329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57646329C>T	uc002qnz.1	-	4	1762	c.1376G>A	c.(1375-1377)aGg>aAg	p.R459K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGTATGACCTGTCAGCGAA	0.418000														102			14		0	0	0.004990	0	0
KCNV1	27012	broad.mit.edu	37	8	110980682	110980682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110980682G>A	uc003ynr.4	-	2	1942	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	KCNV1_uc010mcw.3_Missense_Mutation_p.P380S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	380						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCACAAGGGACACTTGTG	0.478000														48			11		0	0	0.010729	0	0
KCNV1	27012	broad.mit.edu	37	8	110980336	110980336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110980336C>T	uc003ynr.4	-	2	2288	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	KCNV1_uc010mcw.3_Missense_Mutation_p.G495E	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	495						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.G494R(1)|p.G494W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAAATCATCTCCCCCGCTGCT	0.368000														18			5		0	0	0.000602	0	0
DNAH2	146754	broad.mit.edu	37	17	7697628	7697628	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7697628C>T	uc002giu.1	+	47	7640	c.7626C>T	c.(7624-7626)tcC>tcT	p.S2542S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2542	AAA 3 (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)				CTGTCATCTCCCCAAGGCTAC	0.602000														40			14		0	0	0.003163	0	0
NOL9	79707	broad.mit.edu	37	1	6605139	6605139	+	Silent	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:6605139A>G	uc001ans.3	-	3	942	c.846T>C	c.(844-846)ctT>ctC	p.L282L	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	282					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGCTGAAAGGGTACTCT	0.443000														72			27		0	0	0.007291	0	0
C15orf2	23742	broad.mit.edu	37	15	24922786	24922786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:24922786C>T	uc001ywo.3	+	0	2246	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	591					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ATTTTCACATCTTCCCTAAGC	0.483000														43			7		0	0	0.004482	0	0
TSHB	7252	broad.mit.edu	37	1	115576094	115576094	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:115576094T>C	uc001efs.1	+	1	179	c.111T>C	c.(109-111)gcT>gcC	p.A37A		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	37					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GAGAGTGTGCTTATTGCCTAA	0.413000														84			12		0	0	0.001855	0	0
LASP1	3927	broad.mit.edu	37	17	37070713	37070713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:37070713C>T	uc002hra.3	+	4	824	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	LASP1_uc010cvq.3_Silent_p.S42S|LASP1_uc010wdz.2_Missense_Mutation_p.P109S	NM_006148	NP_006139	Q14847	LASP1_HUMAN	Homo sapiens LIM and SH3 protein 1 (LASP1), mRNA.	165						cortical actin cytoskeleton	SH3/SH2 adaptor activity|ion transmembrane transporter activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TCACCACATCCCGACCAGTGC	0.672000			T	MLL	AML									32			10		0	0	0.013537	0	0
CUL3	8452	broad.mit.edu	37	2	225367750	225367750	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225367750T>A	uc010fwy.1	-	9	1488	c.1435A>T	c.(1435-1437)Atg>Ttg	p.M479L	CUL3_uc010zls.1_Missense_Mutation_p.M407L|CUL3_uc002vny.2_Missense_Mutation_p.M473L	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	473					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCCTAAACATTCCTTCCAGT	0.368000														130			37		0	0	0.006999	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411557	105411557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:105411557C>T	uc010axc.1	-	6	10351	c.10231G>A	c.(10231-10233)Gtg>Atg	p.V3411M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V3311M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3411						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGATGTCCACCTGGGGGCTC	0.622000														160			40		0	0	0.007835	0	0
CYTH3	9265	broad.mit.edu	37	7	6210176	6210176	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:6210176G>A	uc003spt.3	-	8	917	c.813C>T	c.(811-813)ctC>ctT	p.L271L	CYTH3_uc011jws.2_Silent_p.L186L	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	271	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CCAGCTTCAGGAGCCAGCCCT	0.632000														20			7		0	0	0.006214	0	0
OR2W5	441932	broad.mit.edu	37	1	247654744	247654744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:247654744G>A	uc001icz.2	+	0	375	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACATCTACATGATGCTGGGCT	0.597000														52			31		0	0	0.010818	0	0
FAM71B	153745	broad.mit.edu	37	5	156589974	156589974	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:156589974C>T	uc003lwn.3	-	1	1402	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	434						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCTGTCCTTCTTTTCTCTTC	0.502000														318			35		0	0	0.003271	0	0
HERC1	8925	broad.mit.edu	37	15	63932434	63932434	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:63932434G>A	uc002amp.3	-	60	11966	c.11818C>T	c.(11818-11820)Ctg>Ttg	p.L3940L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3940					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCATTGGTCAGGGCTTCGGCA	0.463000														70			19		0	0	0.010504	0	0
PDPN	10630	broad.mit.edu	37	1	13936941	13936941	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:13936941A>T	uc001avd.3	+	2	538	c.489A>T	c.(487-489)gaA>gaT	p.E163D	PDPN_uc001avc.3_Missense_Mutation_p.E163D|PDPN_uc009vob.3_Missense_Mutation_p.E45D|PDPN_uc009voc.3_Missense_Mutation_p.E45D|PDPN_uc001ave.3_Missense_Mutation_p.E45D|PDPN_uc001avf.3_Missense_Mutation_p.E45D	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	87					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		p.E163Q(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CAACTTCAGAAAGCACAGTCC	0.507000														27			9		0	0	0.006214	0	0
PDGFC	56034	broad.mit.edu	37	4	157693945	157693945	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:157693945A>G	uc003iph.2	-	3	1087	c.596T>C	c.(595-597)cTt>cCt	p.L199P	PDGFC_uc003ipi.2_Missense_Mutation_p.L36P|PDGFC_uc011cis.2_Missense_Mutation_p.L36P|PDGFC_uc011cir.2_Missense_Mutation_p.L43P	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	199					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.D198N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATATCGAATAAGGTCTTCCAA	0.428000														23			6		0	0	0.001984	0	0
DNAH17	8632	broad.mit.edu	37	17	76525710	76525710	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76525710C>T	uc010dhp.2	-	21	3476	c.3351G>A	c.(3349-3351)ggG>ggA	p.G1117G		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCATAGTCCCCCTCCTTGA	0.567000														42			9		0	0	0.008291	0	0
TLN2	83660	broad.mit.edu	37	15	63029239	63029239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:63029239C>T	uc002alb.4	+	25	3521	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1174	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAAGCAGGCCCTGATTGCA	0.552000														36			4		0	0	0.000602	0	0
TMEM225	338661	broad.mit.edu	37	11	123756020	123756020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123756020G>A	uc001pzi.3	-	0	321	c.113C>T	c.(112-114)tCa>tTa	p.S38L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	38						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCATCTTCTGAAATCAATTC	0.443000														59			7		0	0	0.001984	0	0
A1CF	29974	broad.mit.edu	37	10	52573658	52573658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:52573658G>A	uc001jjj.3	-	9	1494	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	A1CF_uc010qho.2_Missense_Mutation_p.P444S|A1CF_uc010qhn.2_Missense_Mutation_p.P436S|A1CF_uc009xov.3_Missense_Mutation_p.P428S|A1CF_uc001jji.3_Missense_Mutation_p.P428S|A1CF_uc001jjh.3_Missense_Mutation_p.P436S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	436					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.P428S(1)|p.P436S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AATGTGACAGGATTCATTGGG	0.438000														50			15		0	0	0.004990	0	0
TNXB	7148	broad.mit.edu	37	6	32037989	32037989	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:32037989C>T	uc003nzl.2	-	13	5395	c.5193G>A	c.(5191-5193)ctG>ctA	p.L1731L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1813	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGGCATCCAGAGGGGTGA	0.632000														115			23		0	0	0.003330	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675966	22675966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22675966C>T	uc001wdk.2	+	1	290	c.278C>T	c.(277-279)tCc>tTc	p.S93F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		CAGCAAAGTTCCCTGCATATC	0.488000														40			12		0	0	0.002450	0	0
OR1C1	26188	broad.mit.edu	37	1	247921004	247921004	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:247921004C>T	uc010pza.2	-	0	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAACAGCTCTCTGCTTGCCCT	0.522000														27			7		0	0	0.004482	0	0
DNAH2	146754	broad.mit.edu	37	17	7660431	7660431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7660431G>A	uc002giu.1	+	11	1941	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	643	Stem (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)				TCTCTTTGCGGAAATTGACTA	0.552000														155			34		0	0	0.004878	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516153	140516153	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140516153G>A	uc003liq.3	+	0	1354	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGTAGGATGATTTGCT	0.488000														43			10		0	0	0.010729	0	0
ISL1	3670	broad.mit.edu	37	5	50680437	50680437	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:50680437A>T	uc003jor.3	+	1	639	c.91A>T	c.(91-93)Agg>Tgg	p.R31W		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	31	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTATATTCTGAGGGTTTCTCC	0.408000														56			11		0	0	0.010729	0	0
NLRP7	199713	broad.mit.edu	37	19	55449492	55449492	+	Silent	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55449492T>C	uc002qih.4	-	4	2125	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	NLRP7_uc010esk.3_Silent_p.K683K|NLRP7_uc002qig.4_Silent_p.K655K|NLRP7_uc002qii.4_Silent_p.K683K|NLRP7_uc010esl.3_Silent_p.K711K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	683							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAAGCTTTGTTTCACTTCCA	0.493000														114			63		0	0	0.014410	0	0
DNER	92737	broad.mit.edu	37	2	230282888	230282888	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:230282888C>T	uc002vpv.3	-	8	1692	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	515	EGF-like 8; calcium-binding (Potential).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGCTGCATTCAGGCATGGAG	0.547000														35			7		0	0	0.003080	0	0
LILRP2	79166	broad.mit.edu	37	19	55221644	55221645	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55221644_55221645CC>TT	uc002qgs.1	+	0		c.2044_2045CC>TT			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGGTGAGGAGCCCAGCAGGTTC	0.673000														15			18		0	0	0.004672	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187807	37187807	+	RNA	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:37187807G>A	uc002hrd.1	+	0		c.1649G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GCACCCTAAAGTGACACTTCC	0.478000														66			17		0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168108395	168108395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:168108395C>T	uc002udx.3	+	8	10582	c.10493C>T	c.(10492-10494)aCc>aTc	p.T3498I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T3323I|XIRP2_uc010fpq.3_Missense_Mutation_p.T3276I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3323					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGATATGCAACCGCAGATGCT	0.373000														23			8		0	0	0.003080	0	0
PDZD2	23037	broad.mit.edu	37	5	32101303	32101303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:32101303G>A	uc003jhl.3	+	23	8699	c.8311G>A	c.(8311-8313)Gtg>Atg	p.V2771M	PDZD2_uc003jhm.3_Missense_Mutation_p.V2771M|PDZD2_uc003jhn.3_Non-coding_Transcript	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2771	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAATCATCGGTGACGGGAGA	0.512000														26			7		0	0	0.001984	0	0
SUSD2	56241	broad.mit.edu	37	22	24583706	24583706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:24583706C>T	uc002zzn.1	+	11	2103	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	687					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGGGGACGATCATTTCTGCAA	0.627000														47			10		0	0	0.006214	0	0
SCG2	7857	broad.mit.edu	37	2	224462447	224462447	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:224462447G>A	uc021vxk.1	-	0	1554	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	SCG2_uc002vnm.3_Silent_p.I518I	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	518					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTGAATTAATGATCTCAGGGT	0.428000														47			13		0	0	0.013537	0	0
LINGO4	339398	broad.mit.edu	37	1	151773751	151773751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:151773751C>T	uc001ezf.1	-	1	1620	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	LINGO4_uc021oyu.1_Missense_Mutation_p.R477Q	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	477	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTCTGTCCCGTAGCTGCAC	0.592000														117			32		0	0	0.013726	0	0
ARID2	196528	broad.mit.edu	37	12	46285682	46285682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:46285682C>T	uc001ros.1	+	16	5042	c.5042C>T	c.(5041-5043)tCt>tTt	p.S1681F	ARID2_uc001ror.3_Missense_Mutation_p.S1681F|ARID2_uc009zkg.1_Missense_Mutation_p.S1137F|ARID2_uc009zkh.1_Missense_Mutation_p.S1308F|ARID2_uc001rou.1_Missense_Mutation_p.S1015F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1681					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCGGTTTTCTTTTATTACC	0.408000			"""N, S, F"""		hepatocellular carcinoma									64			16		0	0	0.007413	0	0
GPR158	57512	broad.mit.edu	37	10	25887246	25887246	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:25887246G>A	uc001isj.3	+	10	2751	c.2691G>A	c.(2689-2691)tcG>tcA	p.S897S	GPR158_uc001isk.3_Silent_p.S272S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	897						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACGAACATCGATGTTACAGA	0.522000														70			13		0	0	0.001855	0	0
DNMT3B	1789	broad.mit.edu	37	20	31368192	31368192	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:31368192C>T	uc002wyc.3	+	1	384	c.63C>T	c.(61-63)atC>atT	p.I21I	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.I21I|DNMT3B_uc002wye.3_Silent_p.I21I|DNMT3B_uc010ztz.2_Silent_p.I21I|DNMT3B_uc010zua.2_Silent_p.I21I|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.I33I	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	21	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.S20L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGACTCGATCCTCGTCAACG	0.632000														24			4		0	0	0.009096	0	0
C1orf106	55765	broad.mit.edu	37	1	200869256	200869256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:200869256G>A	uc001gvo.3	+	3	502	c.460G>A	c.(460-462)Gag>Aag	p.E154K	C1orf106_uc010ppm.2_Missense_Mutation_p.E69K	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	154										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTGCCAGCGGAGTATCCCCT	0.622000														15			4		0	0	0.009096	0	0
NHS	4810	broad.mit.edu	37	X	17745908	17745908	+	Missense_Mutation	SNP	C	T	T	rs138311675		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:17745908C>T	uc011mix.2	+	6	4020	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	NHS_uc004cxx.3_Missense_Mutation_p.R1207C|NHS_uc004cxy.3_Missense_Mutation_p.R1051C|NHS_uc004cxz.3_Missense_Mutation_p.R1030C|NHS_uc004cya.3_Missense_Mutation_p.R930C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1207						nucleus		p.R1207C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGTGAAGAATCGCTGCGATCC	0.403000														96			20		0	0	0.010504	0	0
KDELR3	11015	broad.mit.edu	37	22	38877506	38877506	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:38877506T>A	uc003avu.3	+	3	797	c.641T>A	c.(640-642)cTa>cAa	p.L214Q	KDELR3_uc003avv.3_Intron	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GACACTGGCCTAAGGAGTTAC	0.433000														45			16		0	0	0.004007	0	0
CACNA1A	773	broad.mit.edu	37	19	13476158	13476158	+	Missense_Mutation	SNP	G	A	A	rs121908228		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:13476158G>A	uc002mwy.3	-	4	993	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	CACNA1A_uc010xnd.2_Missense_Mutation_p.H253Y|CACNA1A_uc021ups.1_Missense_Mutation_p.H253Y|CACNA1A_uc010xne.2_Missense_Mutation_p.H253Y|CACNA1A_uc010dze.2_Missense_Mutation_p.H253Y|CACNA1A_uc021upt.1_Missense_Mutation_p.H253Y	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	253			H -> Y (in EA2; dbSNP:rs121908228).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGTGGTATGAAATTTTCCC	0.453000														64			16		0	0	0.004990	0	0
ERC2	26059	broad.mit.edu	37	3	56114943	56114943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:56114943C>T	uc021wzo.1	-	5	1683	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	ERC2_uc003dhr.1_Missense_Mutation_p.D515N|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	515						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGTGAGGTCCTGTAGCTGT	0.393000														23			4		0	0	0.000602	0	0
ST18	9705	broad.mit.edu	37	8	53073946	53073946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:53073946G>A	uc003xqz.2	-	8	1739	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L	ST18_uc011ldq.1_Missense_Mutation_p.P175L|ST18_uc011ldr.1_Missense_Mutation_p.P493L|ST18_uc011lds.1_Missense_Mutation_p.P433L|ST18_uc003xra.2_Missense_Mutation_p.P528L|ST18_uc003xrb.2_Missense_Mutation_p.P528L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	528						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCAGGAAATGGTGGTGTTTT	0.443000														46			9		0	0	0.010729	0	0
HMCN1	83872	broad.mit.edu	37	1	186158759	186158759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:186158759C>T	uc001grq.1	+	106	16886	c.16657C>T	c.(16657-16659)Cgg>Tgg	p.R5553W	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R1005W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5553					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATTTAATCCGGCTGGTTGC	0.468000														34			10		0	0	0.008291	0	0
ELAC2	60528	broad.mit.edu	37	17	12901793	12901793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:12901793G>A	uc002gnz.4	-	15	1573	c.1456C>T	c.(1456-1458)Ctt>Ttt	p.L486F	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Missense_Mutation_p.L114F|ELAC2_uc002gnx.4_Missense_Mutation_p.L246F|ELAC2_uc010vvo.2_Missense_Mutation_p.L284F|ELAC2_uc010vvp.2_Missense_Mutation_p.L467F|ELAC2_uc010vvq.2_Missense_Mutation_p.L485F|ELAC2_uc010vvr.2_Missense_Mutation_p.L446F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	486					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						CCTGTTCCAAGGAAGATGATT	0.453000														43			7		0	0	0.001984	0	0
C15orf23	90417	broad.mit.edu	37	15	40675068	40675068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:40675068G>A	uc001zll.3	+	0	147	c.32G>A	c.(31-33)aGa>aAa	p.R11K	C15orf23_uc001zlo.3_Missense_Mutation_p.R11K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.R11K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	11						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCCCTGGACAGAGTTTTCCGT	0.592000														14			6		0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882871	228882871	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:228882871T>C	uc002vpq.2	-	6	2746	c.2699A>G	c.(2698-2700)aAc>aGc	p.N900S	SPHKAP_uc002vpp.2_Missense_Mutation_p.N900S|SPHKAP_uc010zlx.1_Missense_Mutation_p.N900S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	900						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGACAGGTTGACTTGAAC	0.483000														110			26		0	0	0.003954	0	0
RAD54L2	23132	broad.mit.edu	37	3	51696603	51696603	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51696603T>A	uc011bdt.2	+	21	3696	c.3571T>A	c.(3571-3573)Tcc>Acc	p.S1191T	RAD54L2_uc003dbh.3_Missense_Mutation_p.S780T|RAD54L2_uc011bdu.2_Missense_Mutation_p.S885T|RAD54L2_uc003dbj.3_Missense_Mutation_p.S517T	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1191						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCCCGGGAATCCCGTCAGAG	0.652000														33			4		0	0	0.000602	0	0
NID2	22795	broad.mit.edu	37	14	52520650	52520650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:52520650G>A	uc001wzo.3	-	4	1310	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NID2_uc010tqs.2_Missense_Mutation_p.S359F|NID2_uc010tqt.1_Missense_Mutation_p.S359F|NID2_uc001wzp.3_Missense_Mutation_p.S359F	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	359						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCAAGGTGGAAGATTCTGT	0.502000														54			9		0	0	0.006214	0	0
ZNF594	84622	broad.mit.edu	37	17	5087335	5087335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:5087335G>A	uc010cla.1	-	1	373	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	ZNF594_uc021tol.1_Missense_Mutation_p.P73S	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTTTCTGGGGGATAATATGC	0.448000														53			8		0	0	0.004482	0	0
EML1	2009	broad.mit.edu	37	14	100344868	100344868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:100344868C>T	uc001ygr.3	+	4	556	c.487C>T	c.(487-489)Cga>Tga	p.R163*	EML1_uc010avt.1_Nonsense_Mutation_p.R131*|EML1_uc010tww.2_Nonsense_Mutation_p.R132*|EML1_uc001ygq.3_Nonsense_Mutation_p.R163*|EML1_uc001ygs.3_Nonsense_Mutation_p.R144*	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	144	Poly-Ser.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCTGGGGGTCGAAGGGAAAG	0.483000														74			13		0	0	0.013537	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200398	72200398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:72200398C>T	uc001xms.3	+	18	5301	c.4940C>T	c.(4939-4941)tCg>tTg	p.S1647L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1626L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1626L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1647L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S1101L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1647					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCTCAGCCTCGGACAGCTCC	0.572000														41			9		0	0	0.006214	0	0
BCAS3	54828	broad.mit.edu	37	17	59067551	59067551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:59067551C>T	uc002iyv.4	+	14	1550	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	BCAS3_uc010wow.1_Missense_Mutation_p.P268S|BCAS3_uc002iyu.4_Missense_Mutation_p.P481S|BCAS3_uc002iyw.4_Missense_Mutation_p.P477S|BCAS3_uc002iyx.1_Missense_Mutation_p.P296S|BCAS3_uc002iyy.4_Missense_Mutation_p.P252S|BCAS3_uc002iyz.4_Missense_Mutation_p.P35S|BCAS3_uc002iza.4_Missense_Mutation_p.P35S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	481						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCGCTGTAGCCCTGTTCCAGG	0.478000														36			14		0	0	0.002450	0	0
FAM113B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:47628897C>T	uc001rpq.3	+	1	576	c.51C>T	c.(49-51)ttC>ttT	p.F17F	FAM113B_uc001rpn.3_Silent_p.F17F|FAM113B_uc021qxi.1_Silent_p.F17F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	17							hydrolase activity	p.F17F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACAATAAGTTCGTGGTCATCC	0.592000														17			5		0	0	0.000602	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811309	5811309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:5811309G>A	uc010ndi.3	-	6	2575	c.2111C>T	c.(2110-2112)aCc>aTc	p.T704I	NLGN4X_uc004crp.3_Missense_Mutation_p.T687I|NLGN4X_uc010ndh.3_Missense_Mutation_p.T667I|NLGN4X_uc004crq.3_Missense_Mutation_p.T667I|NLGN4X_uc004crr.3_Missense_Mutation_p.T667I|NLGN4X_uc010ndj.3_Missense_Mutation_p.T667I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	667					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.R704C(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTTGGTTTCAATGAG	0.502000														130			27		0	0	0.009535	0	0
ACADM	34	broad.mit.edu	37	1	76198547	76198547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:76198547C>T	uc001dgw.4	+	3	656	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	ACADM_uc010orc.1_Missense_Mutation_p.P76S|ACADM_uc010ord.2_5'UTR|ACADM_uc009wbr.3_Missense_Mutation_p.P76S|ACADM_uc010ore.2_Missense_Mutation_p.P40S|ACADM_uc010orf.2_5'UTR|ACADM_uc009wbp.3_Missense_Mutation_p.P80S|ACADM_uc010org.2_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						GTATCCAGTCCCCCTAATTAG	0.313000														36			10		0	0	0.008291	0	0
DOCK10	55619	broad.mit.edu	37	2	225729274	225729274	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225729274T>A	uc010fwz.1	-	12	1837	c.1598A>T	c.(1597-1599)aAc>aTc	p.N533I	DOCK10_uc002vob.2_Missense_Mutation_p.N527I|DOCK10_uc002vod.1_Missense_Mutation_p.N533I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	533							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTACCTTGTTGGAGTCTGG	0.393000														15			5		0	0	0.000602	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109233	39109233	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:39109233C>T	uc004abi.3	-	14	2528	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	CNTNAP3_uc004abj.3_Silent_p.Q762Q|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.Q763Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	763	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCACAATCTGAGTGACTG	0.463000														8			3		0	0	0.004672	0	0
KLHL4	56062	broad.mit.edu	37	X	86887243	86887243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:86887243C>T	uc004efa.2	+	6	1540	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	KLHL4_uc004efb.2_Missense_Mutation_p.T453I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	453						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GACCTCAGGACCAACAGTTGG	0.388000														29			5		0	0	0.000602	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981304	7981304	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:7981304C>T	uc010sgh.2	-	4	807	c.786G>A	c.(784-786)acG>acA	p.T262T	SLC2A14_uc001qtk.3_Silent_p.T247T|SLC2A14_uc001qtl.3_Silent_p.T224T|SLC2A14_uc001qtm.3_Silent_p.T224T|SLC2A14_uc010sgg.2_Silent_p.T138T|SLC2A14_uc001qtn.3_Silent_p.T247T|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	247					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ACTCACTCCGCGTAGCATTCT	0.423000														34			9		0	0	0.006214	0	0
RGS6	9628	broad.mit.edu	37	14	72926360	72926360	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:72926360G>A	uc001xna.4	+	5	886	c.363G>A	c.(361-363)tcG>tcA	p.S121S	RGS6_uc021rvv.1_Silent_p.S86S|RGS6_uc010ttn.2_Silent_p.S121S|RGS6_uc021rvw.1_Silent_p.S121S|RGS6_uc021rvx.1_Silent_p.S121S|RGS6_uc021rvy.1_Silent_p.S121S|RGS6_uc021rvz.1_Silent_p.S121S|RGS6_uc001xmy.4_Silent_p.S121S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S121S|RGS6_uc021rwa.1_Silent_p.S121S|RGS6_uc021rwb.1_Silent_p.S121S|RGS6_uc010ttp.1_Silent_p.S52S|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	121					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCTGGCCTTCGAACTGCTGGG	0.572000														38			14		0	0	0.007413	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:46601349G>A	uc009zkj.1	-	6	1129	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_uc001rpb.3_Silent_p.F148F|SLC38A1_uc001rpc.3_Silent_p.F148F|SLC38A1_uc001rpd.3_Silent_p.F148F|SLC38A1_uc001rpe.3_Silent_p.F148F|SLC38A1_uc010slh.2_Silent_p.F121F|SLC38A1_uc001rpa.3_Silent_p.F148F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	148					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)			CAAAGATTACGAACTTCCCTG	0.413000														72			12		0	0	0.002450	0	0
TLE3	7090	broad.mit.edu	37	15	70348702	70348702	+	Silent	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:70348702G>A	uc002asl.2	-	12	1573	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	TLE3_uc002ask.2_Silent_p.D351D|TLE3_uc010ukd.1_Silent_p.D414D|TLE3_uc010bil.1_Silent_p.D421D|TLE3_uc002asn.2_Silent_p.D412D|TLE3_uc002asm.2_Silent_p.D424D|TLE3_uc002asp.2_Silent_p.D416D|TLE3_uc002aso.2_Silent_p.D419D	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	424	Pro/Ser-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGGGTGAGGGTCAAAACCAA	0.607000														89			21		0	0	0.014323	0	0
ACBD7	414149	broad.mit.edu	37	10	15060055	15060055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:15060055C>T	uc010qby.1	-	4	386	c.77G>A	c.(76-78)gGg>gAg	p.G26E	DCLRE1C_uc021pni.1_Intron			Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	0	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						AGTACCTGCCCCCGGAGTGCA	0.473000														63			9		0	0	0.008291	0	0
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	G	G	rs147063988	by1000genomes	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:27879450T>G	uc011dkw.2	-	0	725	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(2)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443000														44			4		0	0	0.000602	0	0
POF1B	79983	broad.mit.edu	37	X	84585958	84585958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:84585958C>T	uc004eer.2	-	6	997	c.851G>A	c.(850-852)gGa>gAa	p.G284E	POF1B_uc004ees.3_Missense_Mutation_p.G284E	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	284							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACAGTACCTTCCTCCAATTCT	0.358000														27			4		0	0	0.009096	0	0
OGT	8473	broad.mit.edu	37	X	70781690	70781690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:70781690G>A	uc004eaa.2	+	14	2155	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.M629I|OGT_uc004eac.3_Missense_Mutation_p.M500I|OGT_uc004ead.3_Missense_Mutation_p.M258I	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	639					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTGTAAATATGAATGGCTATA	0.373000														22			6		0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11666926	11666926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11666926G>A	uc002gne.3	+	35	7233	c.7165G>A	c.(7165-7167)Gat>Aat	p.D2389N	DNAH9_uc010coo.3_Missense_Mutation_p.D1683N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2389					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATGGTCCAAGATCAGGTAAG	0.463000														20			5		0	0	0.000602	0	0
CD209	30835	broad.mit.edu	37	19	7808055	7808055	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:7808055T>A	uc002mht.2	-	6	1152	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	CD209_uc010xju.1_Missense_Mutation_p.N201I|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Missense_Mutation_p.N338I|CD209_uc002mhs.2_Missense_Mutation_p.N292I|CD209_uc002mhu.2_Missense_Mutation_p.N270I|CD209_uc010dvq.2_Missense_Mutation_p.N356I|CD209_uc002mhq.2_Missense_Mutation_p.N362I|CD209_uc002mhv.2_Missense_Mutation_p.N338I|CD209_uc002mhx.2_Missense_Mutation_p.N318I|CD209_uc002mhw.2_Missense_Mutation_p.N226I|CD209_uc010dvr.2_Missense_Mutation_p.N126I	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	362	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	p.N362N(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTTCCAGCCATTGCCACTAAA	0.512000														161			52		0	0	0.014410	0	0
XIST	7503	broad.mit.edu	37	X	73063933	73063933	+	RNA	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:73063933G>A	uc004ebm.1	-	0		c.8656C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ACCCACTATTGAAAAGAGGTG	0.433000														49			18		0	0	0.006122	0	0
RP1L1	94137	broad.mit.edu	37	8	10468325	10468325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:10468325C>T	uc003wtc.3	-	3	3512	c.3283G>A	c.(3283-3285)Ggc>Agc	p.G1095S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1095					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGCCGGCCCTGCTTGGAG	0.662000														50			19		0	0	0.007413	0	0
DEFA4	1669	broad.mit.edu	37	8	6794348	6794348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:6794348C>T	uc003wqu.1	-	1	125	c.74G>A	c.(73-75)aGa>aAa	p.R25K		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	25					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTCATCACCTCTTGCCTGGAG	0.577000														31			11		0	0	0.008291	0	0
ZNF431	170959	broad.mit.edu	37	19	21365844	21365844	+	Silent	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:21365844C>T	uc010ecr.2	+	4	888	c.741C>T	c.(739-741)acC>acT	p.T247T	ZNF431_uc002npp.2_Silent_p.T246T|ZNF431_uc010ecq.2_Silent_p.T155T	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GGTTCTCAACCCTTACTAGAC	0.358000														19			4		0	0	0.009096	0	0
SPATS1	221409	broad.mit.edu	37	6	44310878	44310878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:44310878C>T	uc021yzz.1	+	1	147	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	TMEM151B_uc003oxg.3_Intron|SPATS1_uc010jzb.3_5'UTR|SPATS1_uc003oxk.3_Missense_Mutation_p.L16F	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	16										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCTGCCGTCTCCCCTCCAT	0.522000														39			5		0	0	0.001168	0	0
ODZ1	10178	broad.mit.edu	37	X	123615780	123615780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:123615780C>T	uc010nqy.3	-	21	3815	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	ODZ1_uc011muj.2_Missense_Mutation_p.D1250N|ODZ1_uc004euj.3_Missense_Mutation_p.D1244N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1244					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			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						GACACAGGGTCCATAGCCAGA	0.418000														52			9		0	0	0.004482	0	0
KCNB2	9312	broad.mit.edu	37	8	73850111	73850111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:73850111G>A	uc003xzb.3	+	2	3109	c.2521G>A	c.(2521-2523)Ggg>Agg	p.G841R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	841					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTAGTGATGGGAGAGACCC	0.527000														47			9		0	0	0.004482	0	0
AFF4	27125	broad.mit.edu	37	5	132232044	132232044	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:132232044delC	uc003kyd.3	-	10	2686	c.2278delG	c.(2278-2280)gttfs	p.V760fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.V438fs|AFF4_uc003kye.1_Frame_Shift_Del_p.V760fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	760					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTTGGAAACTTTTTCTGAG	0.433													---	78	---	---	17	---					
FAM111A	63901	broad.mit.edu	37	11	58919775	58919776	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:58919775_58919776delTG	uc010rkp.2	+	4	861_862	c.634_635delTG	c.(634-636)tgtfs	p.C212fs	FAM111A_uc010rkq.2_Frame_Shift_Del_p.C212fs|FAM111A_uc010rkr.2_Frame_Shift_Del_p.C212fs|FAM111A_uc001nno.3_Frame_Shift_Del_p.C212fs|FAM111A_uc001nnp.3_Frame_Shift_Del_p.C212fs|FAM111A_uc001nnq.3_Frame_Shift_Del_p.C212fs	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	212					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GCGCAAACTCTGTGTTTATGCT	0.386													---	44	---	---	10	---					
HRASLS5	117245	broad.mit.edu	37	11	63257736	63257743	+	Frame_Shift_Del	DEL	TGTTCTAA	-	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:63257736_63257743delTGTTCTAA	uc001nwy.2	-	1	415_422	c.241_248delTTAGAACA	c.(241-249)ttagaacagfs	p.L81fs	HRASLS5_uc001nwz.2_Frame_Shift_Del_p.L71fs|HRASLS5_uc010rmq.1_Frame_Shift_Del_p.L81fs|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	81								p.L81L(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCTTCTGCCCTGTTCTAATGTGCCCGGC	0.486													---	220	---	---	34	---					
HOXB8	3218	broad.mit.edu	37	17	46690839	46690840	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:46690839_46690840insG	uc002inw.3	-	1	691_692	c.456_457insC	c.(454-459)acctacfs	p.T152fs	HOXB7_uc002inv.3_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y153C(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGCGGCTGTAGGTCTGTCGGC	0.639													---	87	---	---	16	---					
KXD1	79036	broad.mit.edu	37	19	18677989	18677990	+	Splice_Site	INS	-	T	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:18677989_18677990insT	uc021uqq.1	+	5	606	c.301_splice	c.e5+1	p.H101_splice	KXD1_uc021uqr.1_Splice_Site_p.H101_splice|KXD1_uc002njo.3_Splice_Site_p.H101_splice|KXD1_uc002njq.3_Splice_Site_p.H101_splice	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	101							protein binding										GCCTTCAGCCGTAAGTGTCACG	0.629													---	11	---	---	5	---